>> HI, EVERYONE.
IT'S PAST 9:00.
WE'RE GOING TO GET STARTED.
WE HAVE A FULL AGENDA TODAY.
I KNOW SOME ARE STILL COMING IN.
TAKE YOUR TIME.
WE'LL KICK OFF THE DAY WITH A
FEW REMARKS.
WE WANTED TO WELL COUPLE TO RARE
DISEASE DAY AT NIH THE FIRST
IN-PERSON COMPONENT IN THREE
YEARS.
THANKS FOR EVERYONE'S PATIENCE
AND UNDERSTANDING AS WE PREPARE
FOR THE 2023 EVENT AND WORK
THROUGH THE NEW CHANGES.
WE'RE AL IS AND AINSLIE AND WE
LEAD THE PLANNING FOR THIS EVENT
WITH A BIG TEAM.
WE ARE FROM THE DIVISION OF RARE
DISEASES RESEARCH INNOVATION
WITHIN THE NATIONAL CENTER FOR
ADVANCING TRANSLATIONAL SCIENCES
AT NIH.
WE WOULD LIKE TO THANK OUR
PLANNING AND OUR CO-SPONSORS
FROM THE NIH CLINICAL CENTER AND
HAD NCI, NHLBI, DRDRI AND USFDA
AND THE CHILDREN'S INN AT NIH,
EVERY LIFE FOUNDATION FOR RARE
DISEASES AND NORD AND UVC.
AS OF THIS MORNING WE HAVE MORE
THAN 2200 PARTICIPANTS -- EXCUSE
ME, 2200 REGISTRANTS IN PERSON
AND ONLINE FROM ALL OVER THE
WORLD.
EVERYONE IS EXCITED TO BRING YOU
A WONDERFUL LINEUP OF SPEAKERS,
PATIENT STORIES, EXHIBITS,
SCIENTIFIC POSTERS AND ARTWORK.
WE'LL NOW GO THROUGH A FEW
HOUSEKEEPING ITEMS AND LOGISTICS
TO HELP YOU NAVIGATE THE DAY.
THE MAIN AGENDA WILL TAKE PLACE
IN THIS AUDITORIUM.
IT CAN BE VIEWED IN THE LOWER
LEVEL OF THE CONFERENCE CENTER
OR FROM THE UPPER LEVEL ON THE
BALCONIES.
WE HAVE PLENTY OF SPACE SO
PLEASE DO NOT HANG OUT BY THE
DOORS OR THE FIRE MARSHAL WILL
COME.
FILMING AND PHOTOGRAPHY IS
TAKING PLACE AT THE EVENT SO IF
YOU DO NOT WISH TO BE FILMED OR
PHOTOGRAPH SEE OUR STAFF AT THE
CHECK-IN DESK.
QUE HAVE OVER FLOW ROOMS FOR
NETWORKING OR YOU CAN VIEW THE
EVENT FROM THOSE AREAS.
YOU CAN SEE ROOMS A, B, C, D, F
AND G ON THE SLIDE AND SEE THE
BATHROOMS AND ELEVATORS LOCATED
ON THE SLIDE ON BOTH LEVELS.
FOR THOSE WHO NEED CLOSED
CAPTIONING YOU CANNING TO OL ON
THIS OPTION -- TOGGLE ON THE
OPTION ON THE NIH VIDEOCAST AND
FOR THOSE IN PERSON YOU CAN ALSO
VIEW LIVE CAPTIONING BY GOING TO
THIS LINK OR SCANNING THE QR
CODE AND WE HAVE A CHANGE FOR
TODAY.
WE HAVE THE EVENT CODE 2824 IF
YOU NEED LIVE CLOSED CAPTIONING
IN PERSON.
IF YOU'RE VIRTUAL THERE'S OTHER
WAYS TO GET THE CLOSED
CAPTIONING TO PLAY AND IF YOU
HAVE QUESTIONS YOU CAN ASK THE
CHECK-IN DESK ABOUT THAT.
WE KNOW OPTIONS ARE A LITTLE
DIFFERENT THIS YEAR AND WE
APPRECIATE YOUR PATIENCE THIS
YEAR.
IF YOU PREORDERED A BOX LUNCH IT
WILL BE READY ON THE CREDENZA ON
THE LOWER LEVEL AROUND NOON.
IF YOU TAKE ADVANTAGE OF THE
SAME-DAY MOBILE ORDERS FOR PICK
UP OR WANT TO WALK OR TAKE THE
SHUTTLE TO BUILDINGS 10, 31 OR
35 AND SEE THE LOCATIONS OF
THESE BUILDINGS RELATIVE TO THE
CONFERENCE CENTER YOU'RE IN
WHICH IS 45.
WE ALSO HAVE SHUTTLE SCHEDULES
OUTSIDE BY THE REGISTRATION DESK
AND MAIN ENTRANCE ON THE UPPER
LEFT LEVEL.
TO CLARIFY, SHUTTLE BUSSES WILL
COME TO THE MAIN ENTRANCE AT THE
CONFERENCE CENTER ON THE UPPER
LEVEL ON THE LEFT AND WE HAVE
SIGNS INDICATING WHERE TO GO FOR
THAT.
YOU'LL NOTICE ON THE UPPER LEVEL
IS AN EXTRA SEATING AREA THOUGH
THE CAFETERIA IN THIS BUILDING
IS CLOSED YOU CAN STILL USED THE
SEATING AREA PAST THE ELEVATORS.
THIS YEAR'S EVENT IS FEATURING
EXHIBITS AND SCIENTIFIC POSTERS
AGAIN.
THIS YEAR WE'RE HOSTING NEARLY
80 TOTAL EXHIBITS AND POSTERS.
THE CIRCLES SHOW WHERE THEY'RE
AT NACHER IN THE UPPER LEVEL
ATRIUM AND THE LOWER LEVEL LOBBY
OUTSIDE THE REGISTRATION DESK AS
WELL AS ROOM E.
FOR THOSE INTERESTED IN VISITING
OUR VIRTUAL EXHIBITS AND
POSTERS, WE'RE GOING INTO MORE
DETAIL ABOUT THAT NEXT.
>> THE EVENT APP CAN BE FOUND BY
SENK FOR HOPIN' OR USE THE
CUSTOMIZED BUTTON ON YOUR
REGISTRATION CONFIRMATION
E-MAIL.
FOR THOSE REGISTERED AND VIEWING
THE EVENT ON VIDEOCAST, THE LINK
PROVIDED HERE IS LOCATED IN THE
DESCRIPTION BELOW AS WELL.
WE'LL NOW GO DETAILS WHEN USING
THE ICON ON THE LEFT.
THIS YEAR YOU CAN EITHER VIEW
THE VIRTUAL LIVE STREAM DIRECTLY
IN THE EVENT APP OR THROUGH
VIDEOCAST.NIH.gov.
WITHIN THE EVENT APP CLICK ON
THE MAIN AGENDA BUTTON ON THE
LEFT NAVIGATION PANE TO WATCH
THE LIVE STREAM.
CLICK ON THE ARROW ON THE BOTTOM
OF THE SCREEN TO GET TO KNOW OUR
SPEAKERS.
TO THE RIGHT OF THE LIVE STREAM
YOU'LL SEE ANOTHER PANE.
CLICK ON MAIN AGENDA TO VIEW THE
CHAT POLL QUESTION, Q&A AND LIVE
UPDATE OF OUR DRDRI TWITTER
ACCOUNT.
YOU CAN CHECK OUT EVENT OR MY
AGENDA.
NEXT LET'S TAKE A LOOK AT
ANOTHER FEATURE ON THE LEFT
NAVIGATION PANE.
DISCUSSIONS.
ANYONE REGISTERED AND LOGGED
INTO THE APP CAN SET UP VIRTUAL
DISCUSSIONS AND BREAKOUTS WITH
OTHER ATTENDEES BY CLICK ON THE
CREATE DISCUSSION BUTTON OR
RESPONDING DIRECTLY TO THOSE
ALREADY CREATED.
FOR A VIRTUAL ATTENDEES THIS IS
A GREAT WAY TO NETWORK AND
CONNECT WITH THOSE IN THE RARE
DISEASE COMMUNITY.
AS WE LEARNED IN THE PREVIOUS
SLIDE, KEEP IN MIND ON THE RIGHT
PANE THERE ARE OTHER TABS TO
CLICK ON.
FOR EXAMPLE, WE'RE IN THE EVENT
TAB RIGHT NOW AND THIS SCREEN
SHOT IS SHOWING THE OPTIONS FOR
Q&A.
QUESTIONS CAN BE SUBMITTED
ANONYMOUSLY.
WE'LL TAKE A LOOK AT THE
NETWORKING TAB.
THERE'S MORE OPPORTUNITIES TO
CONNECT WITH THOSE IN THE
COMMUNITY.
YOU CAN CHOOSE TO JOIN SPEED
NETWORKING WHERE YOU'LL BE ABLE
TO BE MATCHED WITH SOMEONE
RANDOMLY ALSO ONLINE AT THE SAME
TIME AND A VIDEO CHAT WILL
BEGIN.
DON'T FORGET TO UPDATE YOUR
PROFILE SO PEOPLE CAN CONNECT
WITH YOU BASED ON SHARED
INTERESTS.
BELOW SPEED NETWORKING IS A LIST
OF RECOMMENDED CONNECTION AND
ATTENDEES CAN REQUEST A MEETING
AND INVITE OTHERS TO VIDEO CALL
OR SEND A MESSAGE.
THE LAST BUTTON IS PROBABLY WHAT
MOST ARE INTERESTED IN.
THE EXHIBITS AND POSTERS.
COME HERE TO SEE A FULL CATALOG
OF THE EXHIBITERS AND POSTER
PRESENTERS.
THERE'S BUTTONS AT THE TOP TO
FILTER BY WHAT YOU WANT TO SEE
WHETHER THAT'S NIH OR
NIH-FUNDED, IN PERSON EXHIBITS
OR POSTERS.
YOU CAN ALSO ENTER THE FIRST
BOOTH, RARE DISEASE AT NIH 2023
TO FIND INFORMATION ABOUT THE
EVENT AND INFORMATION TO EXPLORE
THE VIRTUAL ART EXHIBITION.
IF YOU SEE THE EVENT AGENDA WE
HAVE A STRONG FOCUS ON RESOURCES
FOR THE RARE DISEASES COMMUNITY.
BECAUSE OF THIS WE WANTED TO
SPECIFICALLY CALL OUT THE BOOTH
HOSTED BY THE NIH NATIONAL
LIBRARY OF MEDICINE.
NLM STAFF ARE LOOK FORWARD TO
TALKING TO YOU AND ANSWERING
YOUR QUESTION.
THEY HAVE A BOOTH HERE IN PERSON
AND VIRTUALLY ON THE HOPIN APP
AND PUT TOGETHER A CUSTOMIZED
PLAY LIST OF VIDEOS BECAUSE WE
HEARD FEEDBACK YOU'D LIKE TO
BETTER SEARCH THE LITERATURE FOR
THE RARE DISEASE OF INTEREST.
SCAN THE QR CODES ON THE SCREEN
TO VISIT THE VIRTUAL BOOTH OR
THEIR TRAINING VIDEOS.
NEXT WE WANTED TO SHARE A FEW
PHOTOS OF THE LIGHT UP FOR RARE
CAMPAIGN.
IN OBSERVANCE OF RARE DISEASE
WEEK, FDA'S BUILDING IN SILVER
SPRING, MARYLAND WILL BE
ILLUMINATED TO DUSK TO DAWN THIS
WEEK AND NIH HAS ILLUMINATED
SOME IN THE PAST IN RECOGNITION
OF RARE DISEASE DAY WITH LIGHTS
PROVIDED BY NORD.
THIS YEAR WE'LL HAVE BUILDING
38A, ACROSS FROM THIS CONFERENCE
CENTER ILLUMINATED THROUGH
TOMORROW MORNING.
WE WANT TO SAY A SPECIAL THANK
YOU TO CHRIS MOUER AND JAMES
TAYLOR WHO LED THE COORDINATION
AT THE EFFORT AT NIH WIN --
WITH THE OFFICE RESEARCH
FACILITIES AND COULDN'T HAVE
DONE IT WITHOUT THEM AND WANTED
TO SHARE THE PHOTO OF THE
LIGHTS.
>> WE WANTED TO REMIND EVERYONE
ALL ATTENDEES BOTH IN PERSON AND
VIRTUAL ARE EXPECTED TO EXERCISE
PROFESSIONALISM, CONSIDERATION
AND RESPECT IN YOUR SPEECH,
POSTINGS AND OTHER ACTIONS.
THANK YOU AND LET'S HAVE A GREAT
2023 EVENT.
NEXT WE WOULD LIKE TO INTRODUCE
DR. JONI RUTTER TO OFFICIALLY
PROVIDE WELCOMING REMARKS TO
KICK OFF THE DAY.
WE ARE THRILLED THAT DR. RUTTER
HAS BECOME THE DIRECTOR OF NCATS
AND IS OUR FEARLESS LEADER IN
THE IMPORTANT WORK NCATS TAKES
PART IN AND PLANS AND EXECUTES
THE COMPLEX AND MULTIFACETED
PROGRAMS AS IT RELATES TO RARE
DISEASE.
LET'S WELCOME DR. RUTTER TO THE STAGE
>>IT'S SO GREAT TO BE HERE.
IT'S BEEN THREE YEARS SINCE
WE'VE BEEN ABLE TO GATHER
TOGETHER TO WELCOME ALL TO ARE
HERE AND ONLINE AND IT'S SUPER
SPECIAL TO BE HERE AFTER THREE
YEARS.
I'M PLEASED TO BE HERE.
I'M JONI RUTTER AND I'M THE
DIRECTOR OF NCATS WHERE OUR
MISSION IN A NUTSHELL IS TO TURN
SCIENCE INTO HEALTH.
AND MY BACKGROUND IS IN
PHARMACOLOGY AND GENETICS.
I THINK A LOT ABOUT HOW TO BRING
THOSE TWO DISCIPLINES TOGETHER.
AND RARE DISEASES ARE AN IDEAL
PLACE.
AS I LOOK FORWARD TO THE DECADE
AHEAD I CAN SUM UP MY VISION IN
THREE SIMPLE OBJECTIVES.
TO BRING MORE TREATMENTS FOR ALL
PEOPLE MORE QUICKLY.
WHEN WE TALK ABOUT THIS WE'RE
TALKING OVER 10,000 DISEASES
AFFECTING 30 MILLION TO 40
MILLION IN THE U.S. AND OVER 350
MILLION WORLDWIDE WITH AN
ECONOMIC BURDEN OF OVER $400
BILLION IN MEDICAL CARE COSTS
PER YEAR AND UPWARDS OF $1
TRILLION IN MEDICAL AND
NON-MEDICAL COSTS PER YEAR.
RARE DISEASES ARE A PUBLIC
HEALTH CHALLENGE.
THAT SAID, WHAT WE'RE DOING IS
WORKING.
OF COURSE WE HAVE MORE WORK TO
DO SO I WANT TO TALK ABOUT A FEW
THINGS ABOUT THAT AND WHAT I
HOPE YOU'LL GLEAN FROM THIS DAY.
ESPECIALLY AS THIS DAY IS ABOUT
PAUSING TO REMEMBER LOVED ONES
WE'VE LOST.
TO CELEBRATE THE BIG AND SMALL
WINS.
TO SUPPORT THOSE WHO WORKED
TIRELESSLY CARING FOR PEOPLE
WITH RARE DISEASES AND TO HONOR
ALL PEOPLE WITH RARE DISEASE AND
RECOGNIZE THAT STRUGGLE AND TO
HEAR ABOUT NEW IDEAS AND
PROJECTS THAT SPELL HOPE.
WE PAUSE ON THIS DAY SO WE CAN
SPEED UP IN THE NEXT DAYS.
AND THERE HAVE BEEN INCREDIBLE
ADVANCES THROUGH ADVOCACY,
THROUGH CONGRESSIONAL LEADERSHIP
THAT HAVE SAVED THOUSANDS OF
LIVES.
THINGS LIKE THE ORPHAN DRUG ACT
AND NEWBORN SCREENING ACT SAVES
LIVES.
THESE HAVE ALL CONTRIBUTED TO
THE SAVING LIVES OF RARE
DISEASES.
AND THE DRAMATIC RISE IN OVER
ALL ORPHAN DESIGNATIONS OVER THE
PAST 40 YEARS SUGGEST WE'LL
CONTINUE TO SEE AN UPWARD TRA
JECT ARE -- TRAJECTORY IN THE
COMING DECADES TOO.
BUT WE SHOULDN'T BE COMPLACENT
AND WE'RE NOT.
MORE HELP IS ON THE WAY.
PETER MARKS HEAD OF THE FDA
CENTER FOR BIOLOGICS AND
RESEARCH SAID AT A CONFERENCE A
COUPLE DAYS AGO HE ENVISIONS THE
NEXT GENERATION OF OPERATION
WARP SPEED IT TAKE AIM AT RARE
DISEASES.
HE SAID HE'S GEARING UP FOR A
PILOT PROGRAM TO CONSIDER
BREAKTHROUGHS OR ADVANCED
THERAPY DESIGNATIONS FOR
THERAPEUTICS THAT HAVE PROMISE.
THIS WILL ALLOW FASTER CLINICAL
DEVELOPMENT WITH MORE REAL TIME
FDA SPONSORED COMMUNICATIONS ON
SHARING POTENTIAL RESULTS WHICH
ALL CAN ULTIMATELY MOVE PRODUCTS
AS FAST AS POSSIBLE THROUGH THE
REGULATORY PIPELINE.
AT NCATS WE'RE ALSO PUSHING
BOUNDARIES.
WE USE APPROACHES OF ADDRESSING
MORE THAN ONE DISEASE AT A TIME,
DEVELOPING PLATFORM-BASED
TECHNOLOGIES TO ADVANCE THE
SCIENCE OF ENABLING MORE
TREATMENTS FASTER.
ONE CASE IN POINT, IN THIS SLIDE
IS THE RECENT DEVELOPMENT OF A
GENE THERAPY.
ALSO KNOWN AS AADC.
THIS RARE DISEASE CAUSES
PROFOUND NEURO DEVELOPMENTAL
FAILURE WITH A LIFE EXPECTANCY
OF 4 TO 8 AND WE LOOKED AT
STUDIES WE HOPE WE'LL SEE BLA
APPROVAL SOON.
PTC THERAPEUTICS ACQUIRED THE
WORK AND RECEIVED EUROPEAN
COMMISSION APPROVAL LAST SUMMER
AND CAN NOW DELIVERING THE GENE
THERAPY TO RESTORE DEFICIENT
LEVELS OF KEY NEURO
TRANSMITTERS.
THIS REPRESENTS THE FIRST GENE
THERAPY DELIVERED DIRECTLY TO
THE BRAIN.
THROUGH THIS PROJECT WE LEARNED
A LOT ABOUT COMPLEXITY AND COST,
MANUFACTURING AND DELIVERY
BARRIERS THAT ARE NOW WE'RE
GOING TO BE ABLE TO APPLY THOSE
TO DEVELOPING OTHER THERAPIES
AND MOVE THAT APPROACH AT SCALE.
THAT'S WHAT TRANSLATIONAL
SCIENCE IS ALL ABOUT.
THESE LESSONS IMPACT OUR WORK IN
THE PLATFORM VECTOR GENE THERAPY
PILOT PROGRAM YOU'LL HEAR ABOUT LATER TODAY
AND THE ACCELERATED MEDICINES
BESPOKE GENE THERAPY CONSORTIUM
THAT HAS A BOOTH OUT THERE IN THE BACK
SO THE BGTC PROGRAM IS
STREAMLINING THE REGULATORY
PROCESSES AND FACILITATE
COST-EFFICIENT AND HIGH-QUALITY
AAV PRODUCTION TO INCREASE
ACCESS FOR PATIENTS WITH RARE
DISEASES.
THESE APPROACHES CAN BE APPLIED
TO OTHER TREATMENT MODALITIES
LIKE GENE EDITING AND NUCLEOTIDE
THERAPIES AND AS WE START TO
TRANSITION TO MORE AND MORE
PRECISION TARGET THERAPIES THESE
CAN BE ENABLED BY THESE KINDS OF
PLATFORM-BASED APPROACHES WE'RE
WORKING ON.
AND NOW THAT WE'VE MADE THE CASE
THAT RARE DISEASES ARE A PUBLIC
HEALTH CHALLENGE, WHAT ARE WE
GOING TO DO NEXT?
NCATS HAS OTHER EFFORTS
INCLUDING INFORMATICS AND
EMPHASIS ON DEI AND BELONGING.
IT'S ABOUT MORE TREATMENTS FOR
ALL PEOPLE MORE QUICKLY.
AND WE HAVE A SESSION COMING UP
ON GUARD AND RARE SOURCE AND
RARE DISEASE ALEFT SYSTEMS AND
WE'LL TALK ABOUT MODERNIZATION
SYSTEMS TO MAKE IT MORE
ACCESSIBLE FOR PATIENTS AND
ENHANCING COLLECTION OF RARE
DISEASE PATIENT DATA AND EXPAND
PATIENT ACCESS TO ADVANCE
DIAGNOSTICS AND SUPPORT
REGISTRIES AND ENHANCE
ELECTRONIC HEALTH RECORD
STRUCTURE TO FACILITATE RESEARCH
AND IMPROVE DIAGNOSES IN VARIOUS
HEALTH CARE SETTINGS.
SO THERE'S A LOT GOING ON AND
LOOKING FORWARD TO MORE AND IF
YOU WANT REFRESHERS ABOUT THE
WORK CHECK OUT THE LANDING PAGE
OR ACCESS THE QR CODE THAT WILL
TAKE YOU TO INFORMATION AND
RESOURCES FOR RESEARCHERS,
PATIENTS AND PATIENT ADVOCACY
GROUPS.
AND FINALLY I'D LIKE TO SAY A
FEW THANK YOUS.
FIRST AND FOREMOST TO ALICE
CHEN, GRADY, AINSLIE TISDALE AND
EVERYONE A PART OF THE TEAMS
LISTED ON THE SLIDE FOR THEIR
PLANNING OF THIS EVENT.
THIS HAS BEEN ESPECIALLY
CHALLENGING AFTER THREE YEARS TO
COME IN PERSON AND HYBRID AND I
APPRECIATE ALL THE WORK YOU'VE
DONE.
YOU'VE PULLED TOGETHER AN AGENDA
THAT'S PACKED AND EXCITING.
THANK YOU SO MUCH FOR BRINGING
IT ALL TOGETHER.
AND THANKS TO ALL OF YOU AND THE
SPEAKERS AND ATTENDEES AND
JOINING US AND SHARING YOUR
POSTERS, DISPLAYING YOUR ART,
WEARING YOUR COLORS AND SHOWING
YOUR STRIPES EVEN WHEN THEY'RE
ON YOUR COWBOY BOOTS.
SO YOUR JOB NOW IS TO USE THE
MEETING TO FIND NEW WAYS TO HELP
ADVANCE THE RARE DISEASES WORK
WE ALL DO TOGETHER.
AND WITH THAT, SPEAKING OF DOING
WORK TOGETHER IN A GREAT
COLLEAGUE, I'D LIKE TO INTRODUCE
JIM GILMAN THE CEO OF THE
CLINICAL CENTER AT THE NIH WHO
IS OUR CO-SPONSOR FOR THIS
ANNUAL EVENT ON RARE DISEASE
RARE DISEASE DAY AT THE NIH.
AND ALSO A DEAR COLLEAGUE.
DR. GILMAN, PLEASE COME TO THE
STAGE.
>> THANKS, JONI.
GOOD MORNING AND WELCOME.
I WANT TO START BY THANKING ALL
OF YOU FOR BEING HERE AND
SPECIAL THANKS TO JONI RUTTER
AND THE FOLKS AT NCATS FOR
PARTNERING WITH THE NIH CLINICAL
CENTER IN THIS FORM AGAIN THIS
YEAR.
THIS IS ACTUALLY ONE OF THE VERY
FEW TIMES I'VE BEEN PHYSICALLY
PRESENT IN NATCHER HERE AT THE
AUDITORIUM SINCE THE START OF
THE PANDEMIC.
WITH ALL DUE RESPECT TO MY
INFORMATION TECHNOLOGY
COLLEAGUES WHO ENABLED OUR
OPERATIONS DURING THE LAST THREE
YEARS THERE ARE SOME OCCASIONS
WHEN PRESENCE AND PHYSICAL
PROXIMITY TO LIKE-MINDED PEOPLE
ARE REALLY IMPORTANT.
FOR US RARE DISEASE DAY IS ONE
OF THOSE SPECIAL OCCASIONS.
THE ECO SYSTEM CONDUCIVE TO
PROGRESS IN THE FIGHT AGAINST
RARE DISEASES IS COMPLEX.
IT INCLUDES SCIENTISTS AND
CLINICIANS SEARCHING FOR A CURE.
ADVOCACY ORGANIZATIONS, PATIENTS
AND FAMILIES SUFFERING WITH THE
DISEASES AND POLICY MAKERS AND
ELECTED LEADERS WHO OFTEN HELP
UNDER WRITE THE BASIC RESEARCH
AND CLINICAL TRIALS.
RARE DISEASE DAY IS UNIQUE IN
THAT IT BRINGS ALL THE
COMPONENTS OF THIS ECO SYSTEM IN
THE SAME ORBIT FOR AT LEAST A
BRIEF PERIOD OF TIME.
IT IS A REMINDER OF WHY WE ARE
ALL IN THIS WORK AND A REMINDER
THAT NONE OF US ARE IN THIS WORK
ALONE.
IT'S A DAY WHEN THE HEAD
ACQUIRES NEW INFORMATION AND
KNOWLEDGE BUT IS ALSO A DAY WHEN
THE HEART RENEWS HOPE AND FINDS
SOURCES OF NEW INSPIRATION.
WHILE THE PATIENT CENSUS HAS
BEEN LOWER DURING THE PANDEMIC
WE HAVE NOT BEEN IDLE OR
COMPLACENT.
WE HAVE INCREASED OUR EMERGENCY
RESPONSE CAPABILITIES FOR ALL
PATIENTS AND TAKEN A NUMBER OF
STEPS PARTICULARLY TO IMPROVE
THE ORGANIZATION OF CLINICAL
RESOURCES USED FOR THE CARE OF
CHILDREN.
TWO YEARS AGO WE PROVIDED CARE
FOR TWO INFANTS PARTICIPATING IN
A GENE THERAPY TRIAL.
THE FIRST TWO INFANTS CARED FOR
IN THE CLINICAL CENTER IN QUITE
SOME TIME.
A SUBSTANTIAL PORTION OF THE
CLINICAL CENTER STAFF SPENT SIX
MONTHS GETTING READY INCLUDING
DIDACTIC AND SIMULATION
TRAINING.
WE'RE PROUD OF THAT EFFORT AND
WANT TO DO MORE WORK LIKE IT IN
THE FUTURE.
THROUGH A PARTNERSHIP WITH
CHILDREN'S NATIONAL HOSPITAL,
THE CARE OF CHILDREN IN OUR ICU
IS NOW PROVIDED BY PEDIATRIC
INTENSIVISTS.
OUR HOPE IS TO ENABLE CLINICAL
TRIALS IN SMALLER CHILDREN
ROUTINELY AND ENGAGED A NUMBER
OF PEDIATRIC THOUGHT LEADERS IN
THE EXTRAMURAL COMMUNITY TO
ADVISE US IN THESE EFFORTS.
IF YOU ARE TO REMAIN THE WORLD'S
FOREMOST CLINICAL RESEARCH
CENTER WITH A FOCUS ON RARE
DISEASES, IT'S TIME TO MOVE
BEYOND NATURAL HISTORY STUDIES
AND COMMIT TO EARLY IN HUMAN
CLINICAL TRIALS.
LAST SUMMER WE OPENED NEW
OUT-PATIENT AND IN-PATIENT
SECTIONS OF OUR PHARMACY AND WE
EXPECT TO OPEN THE NEW STATE OF
THE ART INTRAVENOUS AD MIXTURE
ROOM LATER THIS YEAR.
IN A FEW DAYS CONSTRUCTION
BEGINS ON A NEW WING FOR THE
CLINICAL CENTER TO HOUSE
SURGERY, RADIOLOGY AND MEDICINE.
YOU'RE FORTUNATE YOU JUST MISSED
THE CHANGES AND TRAFFIC PATTERNS
AND PARKING LOCATIONS THIS MAJOR
CONSTRUCTION EFFORT REQUIRES.
THE NEW WING WILL NOT COME
ONLINE UNTIL 2028.
WE HAVE YEARS OF INCONVENIENCE
AHEAD OF US BUT IT'S NECESSARY
INCONVENIENCE AS WE UPGRADE AND
MODERNIZE THE CLINICAL CENTER.
THE NATIONAL CANCER INSTITUTE
AND THE NATIONAL HEART, LUNG AND
BLOOD INSTITUTE WILL OCCUPY
PORTIONS OF THIS NEW
CONSTRUCTION AS WELL.
THERE ARE A NUMBER OF SMALLER
PROJECTS IN THE CLINICAL CENTER
ALSO.
THE NEW WING AND OTHER PROJECTS
REPRESENT THE HARD WORK OF MANY
PEOPLE INCLUDING ADVOCATES AND
POLICY MAKERS.
COMMITTED TO THE MANTRA THAT
WORLD CLASS RESEARCH REQUIRES
WORLD CLASS INFRASTRUCTURE.
I WANT TO CLOSE AS I BEGAN
WELCOMING YOU ONCE AGAIN TO THE
NIH CAMPUS.
BY THE WAY, THE NIH CLINICAL
CENTER HAS NO RESTRICTIONS ON
VISITORS AND IF YOU WANT TO PAY
US A VISIT PLEASE DO SO.
WE ASK YOU MAYBE NOT ALL GO TO
THE COFFEE LINE AT THE SAME TIME
THOUGH.
I'D ENCOURAGE YOU TO TAKE FULL
ADVANTAGE OF THE DAY TO BECOME
MORE UP TO DATE, BETTER INFORMED
AND MORE COMMITTED TO THE FIGHT
AGAINST RARE DISEASES.
THANK YOU.
>> OKAY.
AND NOW I'M GOING TO INTRODUCE A
SERIES OF VIDEOS FOR WELCOMING
REMARKS FROM OTHER FOLKS ON
CAMPUS IN FACT OUR LEADER IN
DR. LARRY TABAK WHO HAS BEEN
PERFORMING THE DUTIES OF THE
DIRECTOR OF NIH SINCE DECEMBER
20, 2021.
PREVIOUSLY FOR MORE THAN 11
YEARS HE SERVED AS THE DEPUTY
ETHICS COUNSELOR AND PRIOR TO
THAT FOR 10 YEARS WAS THE
DIRECTOR OF THE NATIONAL
INSTITUTE OF DENTAL AND
CRANIOFACIAL RESEARCH.
BEFORE JOINING NIH HE WAS A
PROFESSOR AND SENIOR ASSOCIATE
DEAN AT THE UNIVERSITY OF
ROCHESTER IN NEW YORK.
HE'S TRAINED AS A DOCTOR OF
DENTAL SURGERY WITH A Ph.D. IN
ENDODONTICS AND
NOW I'D LIKE TO WELCOME THE
VIDEO OF DR. TABAK.
>> WELCOME TO THE 2023 RARE
DISEASE DAY.
THANK YOU DR. ARE RUTTER AND
GILMAN FOR THE WORK YOU AND YOUR
COLLEAGUES DO AT THE NATIONAL
CENTER FOR ADVANCING
TRANSLATIONAL SCIENCES AND THE
NIH CLINICAL CENTER TO BETTER
UNDERSTAND AND TREAT THE
ENORMOUSLY WIDE RANGING
CONDITIONS CAUSED BY RARE
DISEASES.
A COUPLE WEEKS AGO I WAS PLEASED
TO HOST AN ARTICLE ON THE NIH
DIRECTOR'S BLOG ON RARE DISEASES
FROM DR. RUTTER.
AS SHE POINTED OUT, MORE THAN
10,000 RARE DISEASES AFFECT MORE
THAN 30 MILLION PEOPLE IN THE
UNITED STATES AND NEARLY 400
MILLION PEOPLE WORLDWIDE.
COLLECTIVELY, THESE TOTALS DWARF
THE NUMBERS AFFECTED BY MANY
COMMON DISEASES.
PEOPLE WITH RARE DISEASES OFTEN
STRUGGLE FOR YEARS TO RECEIVE AN
ACCURATE DIAGNOSIS AND WHEN THEY
DO FEW FIND THEY HAVE TREATMENTS
AVAILABLE TO THEM.
A PERSISTENT PROBLEM IS THAT WE
AREN'T VERY GOOD ABOUT TRACKING
RARE DISEASES.
MANY ARE TOO RARE TO EVEN HAVE A
CODE THAT IDENTIFIES THEM IN
ELECTRONIC HEALTH RECORD.
AT NIH WE ARE COMMITTED TO
BUILDING NEW WAYS TO TAKE ON THE
CHALLENGE OF RARE DISEASES.
VIRTUALLY ALL OF THE 27 NIH
INSTITUTES AND CENTERS HAVE SOME
INVESTMENT IN RARE DISEASE
RESEARCH AND 10 INSTITUTES AND
CENTERS PARTICIPATE IN THE RARE
DISEASES CLINICAL RESEARCH
NETWORK WHICH IS LED BY NCATS.
THE NETWORK ALLOWS SCIENTISTS TO
WORK WITH RARE DISEASE
ORGANIZATIONS AND PATIENT
ADVOCACY GROUPS TOWARD A BETTER
UNDERSTANDING OF HOW TO PROCEED
IN OUR RESEARCH EFFORT.
NIH IS COMMITTED TO ADVANCING
RESEARCH ON THERAPEUTICS FOR
RARE DISEASES AND I WANT TO
BRIEFLY TELL YOU ABOUT THREE
PROGRAMS.
ALL THREE EFFORTS TAKE INTO
ACCOUNT THE FACT THAT MISTAKE
RARE DISEASES ARISE FROM A
DEFECT IN A SINGLE GENE SO GENE
THERAPY IS POTENTIALLY A
POWERFUL APPROACH FOR TREATING A
WIDE RANGE OF RARE DISEASES
INCLUDING THOSE CURRENTLY VIEWED
AS TOO RARE FOR COMMERCIAL
DEVELOPMENT.
FIRST, NIH IS INVOLVED IN THE
ACCELERATING MEDICINES
PARTNERSHIP BESPOKE GENE THERAPY
CONSORTIUM.
THE PARTNERSHIP BRINGS TOGETHER
PUBLIC PRIVATE AND NON-PUBLIC
ORGANIZATIONS TO BRING TOGETHER
CUSTOMIZED GENE THERAPIES.
THE EFFORT WAS LAUNCHED IN
OCTOBER 2021 AND AIMS TO
OVERCOME THE OBSTACLES TO CREATE
GENE THERAPIES AND PLANS TO
CREATE A PROTOCOL BOOK TO HELP
MAKE THE PROCESS OF DEVELOPING
GENE THERAPIES FOR RARE
CONDITIONS MUCH MORE EFFICIENT.
SECOND, WE HAVE A PROGRAM WHICH
SUPPORTS HIGH-RISK INNOVATIVE
ENDEAVORS WITH THE POTENTIAL FOR
EXTRAORDINARY IMPACT.
THE PROGRAM IS TO DEVELOP TOOLS
TO PERFORM AND ASSESS GENE
EDITING IN THE CELLS OF THE
BODY.
THE RESEARCH TOOLS THIS PROGRAM
WILL BE MADE AVAILABLE TO THE
RESEARCH COMMUNITY TO REDUCE THE
TIME AND COST OF DEVELOPING NEW
THERAPIES.
LASTLY THE THIRD NIH INITIATIVE
IN THIS AREA IS THE PLATFORM
VECTOR GENE THERAPY PROGRAM.
THE PROGRAM AIMS TO STREAMLINE
THE DEVELOPMENT OF GENE THERAPY
AND CLINICAL TESTING BY USING
THE SAME MANUFACTURING METHOD
AND SAME GENE DELIVERY SYSTEM IN
CLINICAL TRIALS THAT AIM TO
TREAT FOUR DIFFERENT RARE
DISEASE GENETIC DISEASES.
THE NATIONAL INSTITUTES OF
HEALTH IS THE WORLD'S LARGEST
FUNDER OF BIO MEDICAL RESEARCH
AND WITH THESE INNOVATIVE
APPROACHES WORKING IN TANDEM, I
AM HOPEFUL WE WILL MAKE PROGRESS
THAT WILL IMPROVE LIVES.
BEFORE CLOSING, I WANT TO POINT
OUT THAT A PRINCIPLE FOCUS FOR
NIH LEADERSHIP IN THE LAST FEW
YEARS HAS BEEN AN EFFORT TO
ADDRESS DIVERSITY, EQUITY,
INCLUSION AND ACCESSIBILITY.
WE LAUNCHED THE NIH UNITE
INITIATIVE ALMOST TWO YEARS AGO
AS A CONCERTED EFFORT TO CREATE
EQUITY ACROSS BIO MEDICAL
SCIENCE.
AS WE DEVELOP TREATMENTS FOR
RARE DISEASES IT WILL BE
IMPORTANT TO BE ALERT TO
POTENTIAL INEQUITIES AND
DISPARITIES IN ACCESS TO
TREATMENTS INCLUDING
GENE-TARGETED THERAPIES.
I AM PLEASED TO SEE THERE WILL
BE A SESSION TODAY AFTER LUNCH
TOUCHING ON THIS ISSUE.
THE WORK OF IMPROVING LIFE FOR
PEOPLE WITH RARE DISEASES WILL
TAKE THE CONCERTED AND FOCUSSED
EFFORTS OF ALL OF US,
SCIENTISTS, CAREGIVERS AND
PATIENT ADVOCATES WITH BOTH
PUBLIC AND PRIVATE INVESTMENT.
THANK YOU FOR DOING ALL THAT YOU
CAN IN ADVANCING THIS CAUSE.
>> NEXT WE'LL SHOW A FEW VIDEOS
FROM SENATOR WICKER, CONGRESSMAN
BILIRAKIS AND MATSUI CO-CHAIRS
OF THE RARE DISEASE
CONGRESSIONAL CAUCUS.
UNFORTUNATELY THEIR SCHEDULES
DID NOT ALLOW THEM TO JOIN US
TODAY BUT WE'RE VERY GRATEFUL
THEY'RE ABLE TO SEND US THEIR
REMARKS AND IF YOU'RE INTERESTED
YOU CAN READ SOME OF THEIR BIOS
ON THE RARE DISEASE EVENT APP.
SENATOR KLOBUCHAR HOPED TO
PARTICIPATE IN PERSON BUT WAS
NOT ABLE TO ATTEND.
WE DO HOWEVER, APPRECIATE HER
CONTINUED SUPPORT AS WELL.
I'D ALSO LIKE TO ACKNOWLEDGE THE
SPORT OF THE RARE DISEASE
CONGRESSIONAL CAUCUS AND ITS
MEMBERS AND ALL THE MEMBERS OF
CONGRESS.
WHENEVER NCATS AND I GET THE
PRIVILEGE TO MEET WITH MEMBERS
OF CONGRESS THEY ALMOST ALWAYS
TELL US ABOUT CONSTITUENTS OR
FAMILY MEMBER WITH RARE DISEASE
AND HELPING TO DO WHAT THEY CAN
AND FURTHER PROOF RARE DISEASES
ARE NOT RARE.
WE APPRECIATE THE BYPRODUCT
SUPPORT OF RARE DISEASES AND I'D
LIKE TO INTRODUCE SENATOR WICK
ER SERVING HIS THIRD TERM AND
REPRESENTED MISSISSIPPI IN THE
UNITED STATES SENATE SINCE
SEPTEMBER 2007.
HE'S THE RANKING MEMBER OF THE
SENATE ARMS SERVICES COMMITTEE
AND A SENIOR MEMBER OF THE
SENATE COMMITTEE ON COMMERCE,
SCIENCE, TRANSPORTATION.
HE IS PART OF THE ENVIRONMENT
AND PUBLIC WORKS AND RULES AND
ADMINISTRATION COMMITTEE.
IN ADDITION TO CO-CHAIRS OF THE
RARE DISEASE CONGRESSIONAL
CAUCUS HE'S ON THE SENATE NIH
CAUCUS AS WELL.
LET'S SHOW THE VIDEO FOR SENATOR
ROGER WICKER.
>> HELLO THIS IS U.S. SENATOR
ROGER WICKER FROM MISSISSIPPI.
AS A CO-CHAIRMAN OF THE SENATE
RARE DISEASE CAUCUS IT'S MY
HONOR TO WORK WITH THE NATIONAL
INSTITUTE OF HEALTH TO FIGHT
RARE DISEASES.
THERE'S MORE THAN 7,000 TYPES OF
RARE DISEASES IN THE UNITED
STATES ALONE MANY OF WHICH
DISPROPORTIONATELY AFFECT
CHILDREN.
THERE ARE 25 MILLION AMERICANS
LIVING WITH RARE DISEASES IN THE
UNITED STATES.
THAT NUMBER GROWS TO 350 MILLION
WORLDWIDE.
WITH SO MANY LIVES AFFECTED
EVERY MEDICAL ADVANCEMENT HAS
THE POTENTIAL TO BRING HOPE TO
MANY.
AS YOU ALL KNOW WELL THE NIH
PLAYS A CRUCIAL ROLE IN PUSHING
THESE FORWARD.
YOUR SCIENTISTS CONDUCT RESEARCH
AND DEVELOP DIAGNOSTICS THAT CAN
LEAD TO TREATMENTS AND SAVE
LIVES.
AS A UNITED STATES SENATOR, I
HAVE CONTINUED TO MAKE THIS WORK
A PRIORITY.
EACH YEAR I SUPPORT INCREASES IN
NIH FUNDING WHICH IS CRITICAL TO
FINDING SOLUTIONS FOR THE
MILLIONS WHO SUFFER FROM
AILMENTS WITH NO APPROVED
OPTIONS FOR TREATMENT.
I'LL ALSO WORK TO SUPPORT SMART
LEGISLATION THAT CAN MAKE A
DIFFERENCE.
THIS CONGRESS I'M RE-INTRODUCING
THE BENEFIT ACT WHICH WOULD
ENSURE PATIENT EXPERIENCES AND
LOOK FOR CONSIDERATIONS IN THE
FDA APPROVAL PROCESS.
THIS BIPARTISAN LEGISLATION
WOULD BENEFIT THE RISK FRAMEWORK
AND A REMAIN COMMITTED TO
PUSHING IT OVER THE FINISH LINE
WITH MY COLLEAGUE SENATOR
KLOBUCHAR.
I SUPPORTED THE LANGUAGE IN THE
LEGISLATION TO EXPAND THE USE OF
ORPHAN PRODUCT GRANT TO FUND
REGULATORY SCIENCE.
THIS POLICY ORIGINATED IN THE
STAT ACT WHICH I LED WITH
SENATOR KLOBUCHAR IN THE SENATE.
IT'S A GREAT MILESTONE 40 YEARS
AFTER THE PASSAGE OF THE ORPHAN
DRUG ACT.
THE FIGHT IS FAR FROM OVER BUT
THE GAINS SHOW THE PROMISE OF
BREAKTHROUGHS TO COME.
I HOPE ONE DAY WE CAN FIND CURES
TO RARE DISEASES.
THANK YOU.
>> NEXT UP OUR VIDEO REMARKS
FROM CONGRESSMAN BILIRAKIS.
HE WAS ELECT IN 2007 AND SERVING
HIS NINTH TERM.
THE CONGRESSMAN SERVES AS A
SENIOR MEMBER OF THE COMMITTEE
THAT OVERSEES NIH AND PART OF
THE DATA SUBCOMMITTEE AND PART
OF THE COMMUNICATIONS AND
TECHNOLOGY SUBCOMMITTEE.
LET'S PLEASE ROLL THE TAPE OF
REPRESENTATIVE BILIRAKIS.
>> I'M HONORED TO PARTICIPATE IN
RARE DISEASE OF 2023.
I'M HONORED AND APPRECIATE ALL
THE ADVOCATES FOR ALL THE WORK
THEY DO.
IT'S THE LORD'S WORK AND I WORK
AS THE SUBCOMMITTEE ON HEALTH AS
WELL AS SERVING AS THE CO-CHAIR
OF THE RARE DISEASE CAUCUS HERE
IN THE UNITED STATES CONGRESS.
AS YOU ALL KNOW RARE DISEASES
ARE NOT A RARE PROBLEM AND THERE
ARE AN ESTIMATED 7,000 RARE
DISEASES WHICH AFFECT MORE THAN
30 MILLION AMERICANS.
AND YET 95% OF THESE CONDITIONS
HAVE NO KNOWN TREATMENT OR CURE
UNFORTUNATELY.
WITH EACH RARE DISEASE IMPACTING
SMALLER PATIENT POPULATIONS
THERE ARE CHALLENGES IN GETTING
THE RESOURCES AND ATTENTION
OF -- REALLY THE ATTENTION AND
RESEARCH THAT PATIENTS DESERVE.
WE HAVE TO SOLVE THIS PROBLEM,
FOLKS, AND I KNOW YOU KNOW THIS
BETTER THAN ANYONE.
FOR THIS REASON I'VE BEEN A HUGE
PROPONENT OF FEDERAL GOVERNMENT
RESEARCH THAT CAN PROVIDE HOPE
AND POTENTIAL FOR CURES FOR MANY
OF THESE RARE DISEASES.
NOW, WE WANT TREATMENTS IF WE
CAN'T FIND CURES.
I'M PROUD THE MOST RECENT BUDGET
WE PASSED INCLUDES A SUBSTANTIAL
INCREASE IN FUNDING BY $2.5
BILLION FOR THE NIH AS WELL AS
FUNDING FOR THE CONGENITAL HEART
DISEASE RESEARCH FOR THE
DEVELOPMENT OF THE NATIONAL
NEUROLOGICAL CONDITIONS
SURVEILLANCE SYSTEM AND FOR THE
NATIONAL ALS REGISTRY AND BIO
REPOSITORY.
BIO MEDICAL RESEARCH SAVES LIVES
FOLKS AND I THINK YOU KNOW THAT.
I'M GLAD TO SEE THIS CRITICAL
FUNDING AT NIH HAS CONTINUED.
IT WILL CONTINUE TO BE AN ISSUE
THAT BRINGS TOGETHER MEMBERS OF
CONGRESS IN A BIPARTISAN
FASHION.
IN PARTICULAR I WANT TO
RECOGNIZE THE WORK THE NATIONAL
CENTER FOR ADVANCING
TRANSLATIONAL SCIENCES OR THE
NCATS IS DOING TO ADVANCE GENE
THERAPY SCIENTIFIC RESEARCH AND
OTHER RARE DISEASE THERAPEUTICS.
THIS IS CRITICAL IN PUSHING FOR
ADDITIONAL TREATMENT AND CURES
AND TO GET TO CLINICAL TRIALS.
WHILE I APPRECIATE ALL THE
RESEARCH THAT HAS BEEN DONE
UNDER THE NIH, I DO REMAIN
CONCERNED ABOUT THE ABILITY FOR
THAT BASIC SCIENCE TO ENTER INTO
THE DRUG DEVELOPMENT PIPELINE
AND ULTIMATELY GET TREATMENTS
APPROVED AND THE HANDS OF THE
RARE DISEASE PATIENTS THAT NEED
IT AS SOON AS POSSIBLE.
IS OF THE ESSENCE.
THIS YEAR WE CELEBRATE THE 40th
ANNIVERSARY OF THE ORPHAN DRUG
ACT AND I PARTICIPATE IN THAT
AND HONORED TO DO SO.
AGAIN, THE ORPHAN DRUG ACT WHICH
HAS LED TO SIGNIFICANT
INNOVATION IN THE PRIVATE
SECTOR.
PRIOR TO THE ORPHAN DRUG ACT'S
PASSAGE IN 1983, ONLY 38
TREATMENTS WERE FOOD AND DRUG
ADMINISTRATION APPROVED FOR
INDIVIDUALS WITH RARE DISEASES.
ONLY 38.
NOW 40 YEARS LATER OVER 1100 NEW
ORPHAN INDICATIONS HAVE BEEN
APPROVED BY THE FDA.
AN ASTOUNDING INCREASE THAT'S
PROGRESS AND ASTOUNDING INCREASE
IN THE NUMBER OF SAFE AND
EFFECTIVE PRODUCTS FOR RARE
DISEASE PATIENTS WHO PREVIOUSLY
HAD NO OTHER OPTIONS.
DESPITE THIS PROGRESS, MUCH WORK
NEEDS TO BE DONE AND I REMAIN
COMMITTED TO THE COMMISSION FOR
POLICY REFORMS AT THE FDA TO
ACCELERATE DEVELOPMENT OF
TREATMENTS AND CURES ACROSS THE
SPECTRUM OF RARE DISEASES AND
DISORDERS.
I LOOK FORWARD TO WORK ACROSS
THE AISLE AS WE HAVE ALL THESE
YEARS TO DEVELOP SOLUTIONS TO
ACCELERATE THE FRAMEWORK AND
CONTINUE TO SPUR INNOVATIVE
IDEAS IN THE PUBLIC AND PRIVATE
SECTOR.
AGAIN, THANK YOU FOR INVITING ME
TO SPEAK.
WHAT A GREAT HONOR.
THANK YOU AGAIN FOR INVITING ME
TO SPEAK FOR THE RARE DISEASE
DAY 2023.
IT IS TRULY A PRIVILEGE.
IT REALLY IS.
I ALSO APPRECIATE HEARING FROM
CONSTITUENTS AND PATIENTS AND I
HAVE MANY FRIENDS ADVOCATING FOR
YEARS AND MAKING A GREAT DEAL OF
PROGRESS.
I'VE ALWAYS FOUND IT IS THE
PERSONAL INDIVIDUAL STORIES THAT
TRULY MAKE THE BIGGEST IMPACT
AND IT'S SO TRUE.
IT WILL HELP GARNER THE MUCH
NEEDED SUPPORT FOR LEGISLATIVE
CHANGES WE'RE HOPING TO MAKE.
THANK YOU FOR GETTING OUTSIDE
YOUR COMFORT ZONE AND EDUCATING
OUR GOVERNMENT OFFICIALS HOW
CONGRESS AND OTHER FEDERAL
STAKEHOLDERS CAN MAKE A POSITIVE
DIFFERENCE IN THE LIVES OF THOSE
LIVING WITH RARE DISEASES.
I KNOW YOU'LL DO GREAT WORK.
WE'VE BEEN WORKING TOGETHER FOR
SO MANY YEARS AND MAKING A GREAT
DEAL OF PROGRESS.
I KNOW YOU'LL CONTINUE THAT
GREAT WORK.
AGAIN, THANK YOU FOR
PARTICIPATING TODAY AND THANK
YOU FOR YOUR SUPPORT FOR THIS
WORTHWHILE ENDEAVOR.
>> I COULDN'T HELP BUT NOTICE
HIS CALENDAR THERE THINKING WOW,
HE WORKS 24/7.
AND I'M SURE THAT'S THE SAME FOR
ALL THESE CONGRESSMEN AND WOMEN
WHO ARE SPEAKING TO US TODAY.
WHAT A THRILL TO HAVE THEM JOIN
US FOR RARE DISEASE RESEARCH.
AND FINALLY REMARKS FROM DORIS
MATSUI WHO REPRESENTED THE CITY
OF SACRAMENTO IN THE 7th
DISTRICT OF CALIFORNIA SINCE
2005.
THIS IS HER 10th TERM.
AS A SENIOR MEMBER OF THE HOUSE
ENERGY COMMITTEE SERVES ON THE
CLIMATE AND GRID SECURITY
COMMITTEE AND VICE CHAIR OF THE
COMMUNICATIONS AND TECHNOLOGY
SUBCOMMITTEE AND BEEN A TIRELESS
SUPPORTER OF THE NIH CHILDREN'S
INN DOWN THE ROAD.
CONGRESSWOMAN MATSUI IS PART OF
THE RARE DISEASE CAUCUS TAKING
THE POSITION THIS CONGRESS.
I LOOK FORWARD TO HEARING
REMARKS FROM CONGRESSWOMAN
MATSUI.
THANK YOU.
>> THANK YOU FOR JOINING US FOR
RARE DISEASE DAY AT NIH.
AS A NEW CO-CHAIR OF THE RARE
DISEASE CONGRESSIONAL CAUCUSES
IT EXCITING TO SPEAK TO YOU
TODAY.
I WANT TO GIVE A SPECIAL THANK
YOU TO ALL THE NIH STAFF AND
PARTNERS WHO MADE THIS EVENT
POSSIBLE EVERY YEAR.
I ALSO WANT TO THANK EACH OF YOU
FOR TAKING THE TIME TO BE WITH
US TODAY FROM RESEARCHERS WHO
HAVE COMMITTED THEIR LIVES TO
FINDING CURES FOR RARE DISEASES
TO PATIENTS, FAMILIES AND
CAREGIVERS.
YOUR DEDICATION TO IMPROVING THE
LIVES OF THE RARE DISEASE
COMMUNITY IS FOUNDATIONAL TO THE
WORK WE DO IN CONGRESS.
RARE DISEASE WEEK IS AN
IMPORTANT TIME TO HAVE
DISCUSSIONS LIKE THE ONE WE ARE
HAVING TODAY TO THINK BIGGER,
LEARN FROM EACH OTHER AND CHART
A PATH FORWARD.
THIS YEAR WE'RE CELEBRATING 40
YEARS OF THE ORPHAN DRUG ACT
WHICH HAS BEEN CRUCIAL TO
ENCOURAGE PHARMACEUTICAL
COMPANIES TO DEVELOP DRUGS FOR
THE RARE DISEASE COMMUNITY.
IT HAS BEEN A KEY DRIVER FOR
DECADES OF INNOVATION.
AND THAT LEGISLATION CONTINUES
TO BE VITALLY IMPORTANT BUT WE
MUST ALSO KNOW WE MUST BUILD ON
THAT PROGRESS DESPITE THE
SUCCESS OF THE ORPHAN DRUG ACT
OF 7,000 KNOWN RARE DISEASES
MORE THAN 10% HAVE A TREATMENT.
AND THE DEMANDS OF RARE DISEASES
WE MUST CONTINUE TO PUSH
FORWARD.
AND THAT'S WHY DAYS LIKE TODAY
ARE SO IMPORTANT TO SHARE
STORIES, TO ENGAGE PRODUCTIVE
DIALOGUE ABOUT THE FUTURE.
MY COLLEAGUES AND I KNOW WE'VE
TALKED ABOUT THE NEXT 40 YEARS.
ABOUT THE COLLECTIVE WORK WE'LL
DO TO HELP CLOSE INNOVATION GAP
FOR THOUSANDS OF RARE DISEASES
THAT HAVE NO FDA APPROVED
TREATMENT.
WE KNOW THAT ACCESS TO THE BEST
MEDICAL CARE IS CRUCIAL FOR
PATIENTS LIVING WITH RARE AND
ULTRA RARE DISEASES.
THAT'S WHY I'VE LONG MADE IT A
PRIORITY TO WORK ON POLICIES
THAT ADVANCE THE SCIENCE OF RARE
DISEASE THERAPIES AND EXPAND
ACCESS TO CARE.
THIS CONGRESS I'VE RE-INTRODUCED
THE ACT TO BENEFIT PATIENT
ENGAGEMENT IN THE DRUG
DEVELOPMENT PROCESS.
I'M ALSO PROUD TO LEAD THE
ACCESS TO RARE DISEASE
INDICATIONS ACT TO SUPPORT
PATIENTS WITH RARE AND ULTRA
RARE DISEASES IN GETTING
EVIDENCE-BASED MEDICALLY
NECESSARY CARE COVERED BY THEIR
HEALTH INSURANCE.
AS WE MOVE FORWARD IN A NEW
CONGRESS, I LOOK FORWARD TO
WORKING TOGETHER WITH MY CAUCUS
COLLEAGUES AND THE RARE DISEASE
COMMUNITY TO FOCUS ON HOW WE CAN
STRENGTHEN AND PROTECT THE
ORPHAN DRUG ACT INCENTIVES AND
MAKE IMPORTANT PROGRESS TOWARD
OUR COLLECTIVE GOAL TO IMPROVE
THE LIVES OF PATIENTS AND
FAMILIES.
TODAY IS ABOUT THE ACTIONS WE'LL
TAKE FOR TOMORROW AND THE DAY
AFTER THAT AND THE YEARS AHEAD
TO ADVANCE EFFORTS THAT SUPPORT
INNOVATIVE THERAPIES AND
EVENTUALLY CURES TO FOREVER
CHANGE THE OUTLOOK FOR LIVING
WITH RARE DISEASES.
I TRULY BELIEVE THE TREMENDOUS
ADVANCEMENTS WE HAVE MADE IN
RESEARCHING AND UNDERSTANDING
THESE DISEASES WILL ONLY
CONTINUE TO GROW.
I LOOK FORWARD TO CONTINUING OUR
WORK TOGETHER AND THANK YOU
AGAIN FOR BEING HERE TO SUPPORT
THE RARE DISEASE COMMUNITY.
>> I'D LIKE TO INTRODUCE PG
BROOKS FOR OUR FIRST SESSION OF
THE DAY.
THE SESSION IS A WAY FOR US TO
HIGHLIGHT OUR MANY NCATS RARE
DISEASE PROGRAMS AND RESOURCES.
PJ IS OUR ACTING DIRECTOR OF THE
DIVISION RARE DISEASES RESEARCH
INNOVATION AND HE WILL NOW
PROVIDE AN OVERVIEW OF THE
SESSION.
>> THANK YOU.
IT'S WONDERFUL TO BE BACK AND
SEE EVERYBODY IN PERSON.
LOTS OF OLD FRIENDS AND NEW
FRIENDS AND LOTS OF ZEBRA ATTIRE
IS INSPIRING TO SEE.
I'LL GIVE A BRIEF INTRODUCTION.
A COUPLE THINGS HAVE HAPPENED IN
THE LAST FEW YEARS.
THREE YEARS AGO WE WERE HERE
THERE WAS SOMETHING CALLED THE
ORDR UPDATE FOR THE OFFICE OF
ARE RARE DISEASES RESEARCH.
IN THE INTERVENING TIME WE'VE
GONE FROM AN OFFICE TO DIVISION.
NOW WE'RE DRDRI AND I REALIZE
THE SIGNIFICANCE OF THAT MAY NOT
BE OBVIOUS TO MANY OF YOU BUT A
DIVISION IS BIGGER THAN AN
OFFICE SO THAT'S AN INDICATION
OF THE POESHS -- IMPORTANCE OF
NCATS AND NIH PLAYS ON RESEARCH
AND SOME PROGRAMS HAVE CONTINUED
AND WE HAVE THEM LISTED HERE.
I'M NOT GOING TO GO THROUGH ALL
BECAUSE IT WOULD TAKE TOO MUCH
TIME.
MANY WILL BE HIGHLIGHTED IN THE
TALKS HERE AND IN SOME OF THE
BOOTHS.
I DO WANT TO PARTICULARLY
HIGHLIGHT THOUGH TWO PROGRAMS
THE TOOL KIT FOR
PATIENT-FOCUSSED THERAPY AND THE
REGISTRY PROGRAM.
THESE ARE TWO WE PLAN TO UPGRADE
IN THE NEXT YEAR AND WE'RE VERY
INTERESTED IN HEARING
IMPRESSIONS FROM THE COMMUNITY
ON THE EFFORTS.
LINDA HO FROM MY TEAM HAS A
BOOTH AND IF YOU WANT TO SPEAK
TO HER ABOUT IT IT'S A GREAT
OPPORTUNITY.
THERE'S A FEW THINGS I FIND LESS
INTERESTING THAN THE
ORGANIZATIONAL CHART OF A
FEDERAL GOVERNMENT ACTIVITY.
IN THIS CASE I PUT THIS UP HERE
FOR A PARTICULAR REASON WHICH IS
TO INDICATE THAT THE SUPPORT FOR
RARE DISEASE AT NCATS IS NOT
LIMITED TO THE RARE DISEASE
RESEARCH INNOVATION AND I PUT
THE STARS TO INDICATE THE
DIVISION PROVIDE RESEARCH AND
ALL HAVE AT LEAST SOME ACTIVITY
THAT SPECIFICALLY CALLS OUT AND
TARGETS RARE DISEASE RESEARCH.
THE OTHER ENTITIES DON'T
DIRECTLY SUPPORT RESEARCH BUT
THEY SUPPORT -- THEY DON'T
SUPPORT THEM FINANCIALLY BUT
SUPPORT
THE FIRST IS BY ERIC SID TO TALK
ABOUT THE GUARD INFORMATION
CENTER AND LIZ WILL TALK ABOUT
RARE SOURCE AND QIAN WILL TALK
ABOUT THE SYSTEM AND THEY'RE
MEANT TO BE INTERLOCKING AND
INTERRELATED SO THEY ALL
COMMUNICATE AND AS WE BRING IN
NEW INFORMATICS PROGRAMS THEY'LL
BE CONNECTED WITH THE OTHER
ONES.
AFTER THOSE INFORMATICS PROGRAMS
WE'LL HEAR A TALK FROM RICHA
LOMASH AND WILL GIVE AN UPDATE
ON THE PAVE-GT PROGRAM AND WE'LL
HAVE THOSE TALKS IN A ROW AND
THEN COME DOWN IN THE COMFY
CHAIRS AND HAVE QUESTIONS.
FIRST TO ERIC.
-- IT CAN TAKE 6.3 YEARS ON
AVERAGE ONCE SYMPTOMS START TO
GET A DIAGNOSIS.
THERE'S MANY REASONS BEHIND A
TIMELY DIAGNOSIS WITHIN RARE
DISEASES.
I WON'T EXPLORE ALL THESE IS
FROM A DLA REPORT AND I'LL FOCUS
ON ONE, LACK OF KNOWLEDGE ABOUT
DISEASE.
WHAT LIMITS THE USE OF EXISTING
RARE DISEASE KNOWLEDGE WE'RE
TALKING ABOUT SIGNS AND
SYMPTOMS, CLINICAL COURSE,
NATURAL HISTORY OF THE DISEASE,
CAUSE OR ETIOLOGY AND WHICH
MEDICAL SPECIALISTS SUPPORT IT
AND ISSUES SUCH AS STATISTICS
SUCH AS POPULATION ESTIMATES.
THIS INFORMATION AND RESEARCH
INFORMATION CAN OFTEN TIMES BE
HARD TO ACCESS, RETRIEVE OR
INTERPRET AND OFTEN IN FORMATS
AND TERMS THAT AREN'T USED DAY
TO DAY.
NEW RESEARCH INFORMATION IS
CONSTANTLY PUBLISHED OR UPDATED
AS TWO EXAMPLES FOR ONE DISEASE
SPECIFIC WE HAVE DATA SHOWING
EVERY YEAR HUNDREDS OF ARTICLES
COME OUT AND PUBLICATIONS THAT
DESCRIBE THE DISEASE AND LOOKED
AT A COLLECTIVE WITH OVER 5,000
DISEASE WE FOUND OVER 160,000
PUBLICATIONS IN HISTORY.
WHAT THIS MEANS IS AS A WHOLE WE
CAN'T ADDRESS INDIVIDUAL
DISEASES ONE BY ONE WHEN WE'RE
TRYING TO UNDERSTAND THEM.
WE NEED TO THINK ABOUT
COMMONALITIES AND THINK ABOUT
MANY DISEASES AT A TIME OR
PLATFORM APPROACHES.
THIS GOES INTO NCATS' MISSION TO
TURN RESEARCH OBSERVATIONS INTO
HEALTH SOLUTIONS THROUGH
TRANSLATIONAL SCIENCE.
WHEN WE THINK ABOUT HOW TO DO
THAT WE HAVE TO THINK WHERE THE
SOURCES OF INFORMATION ARE.
THERE ARE MANY DIFFERENT
RESOURCES FOR BOTH RARE DISEASES
AS WELL AS COMMON DISEASES FOR
KNOWLEDGE.
SOME ARE LISTED HERE BUT THERE'S
MANY MORE OUT THERE AS WELL.
ONE THING IS A NUMBER OF THE
RESOURCES ARE TALKING ABOUT THE
SAME DISEASE OVER 6300 DISEASE
PRESENT IN THREE OR MORE
RESOURCES BUT THEY'RE UNIQUE TO
ONLY ONE SOURCE.
THIS AGAIN IS A PROBLEM.
WE DON'T WANT TO SILO
INFORMATION IN EFFORTS AROUND
TRYING TO MAKE DISCOVERIES IN
RARE DISEASES.
IF WE THINK ABOUT THE
TRANSLATIONAL SCIENCE
OPPORTUNITIES IN RARE DISEASES
WE WANT TO FOCUS ON TWO SPECIFIC
PRINCIPLES.
GENERALIZABLE SOLUTIONS AND A
FOCUS ON UNMET NEEDS.
YOU NEED TO CREATE SOLUTIONS TO
ADDRESS MANY DISEASES AT A TIME
SO WE'RE NOT TALKING ABOUT ONE
OR A HUNDRED OR A DOZEN.
YOU NEED TO THINK UP TO
THOUSANDS OF DISEASES TOGETHER.
IN ADDITION WE NEED TO BUILD ON
EXISTING KNOWLEDGE SOURCES AND
THINKING ABOUT OTHER TYPES OF
QUESTIONS AND UNMET NEEDS THAT
MAY NOT HAVE BEEN EXPLORED YET.
I'LL START BY TALKING A LITTLE
BIT ABOUT THE GARD INFORMATION
CENTER AND THESE ARE RELATED.
AND RATHER THAN TRYING TO DO THE
SAME EXACT QUESTION OR
UNDERSTAND THE SAME TYPE OF
INFORMATION THREE DIFFERENT
TIMES, WE'RE TRYING TO FUNNEL
THIS THROUGH A SINGLE APPROACH
TO TAKE INFORMATION AND THINK
THE DIFFERENT WAYS TO EXPLORE
AND MAKE USE OF THAT
INFORMATION.
FOR THE GARD INFORMATION CENTER
THIS IS THE GENETIC AND RARE
DISEASE INFORMATION CENTER.
THE GOAL IS TO PROVIDE
UNDERSTANDABLE INFORMATION ON
RARE DISEASES TO PATIENTS,
CAREGIVERS AND PUBLIC.
IT MANAGES PUBLIC WEBSITE FOUND
AT RARE DISEASES.INFO.NIH.gov
AND SUPPORT FOR ANYONE WITH RARE
DISEASE TO FIND ACCESS TO
INFORMATION.
WHEN WE TALK ABOUT THE DIFFERENT
EXISTING KNOWLEDGE SOURCES I
WANT TO FOCUS ON TWO.
ONE IS A RESOURCE CALLED
ORPHANET AND THE TARGET IS
CLINICIANS AND RESEARCHERS WITH
THOUSANDS OF INFORMATION POINTS
IN TERMS OF DISEASES SUCH AS
RARE CANCERS AND WHAT SYMPTOMS
THEY'RE ASSOCIATED WITH OR
ORGANS AND TISSUES AND CODES
AVAILABLE FOR HEALTH CARE
SYSTEMS, AGE OF ONSET
INFORMATION AND MUCH MORE.
ANOTHER EXAMPLE RESOURCE TAR
GETTING CLINICIANS AND
RESEARCHERS IS THE OMIN RESEARCH
WITH THOUSANDS OF INFORMATION ON
DISEAS
DISEASES RELATED AND GENE
MUTATION.
THEY HAVE HUNDREDS OF CONCEPTS
UNDERSTOOD AND ADDED TO THE
DATABASE.
HOW CAN WE BUILD ON TOP OF THAT
RATHER THAN DOING THE SAME THING
AND BEING REDUNDANT?
FOR GARD, ONE OF OUR FOCUS IS
THINKING HOW TO REPURPOSE THIS
RESEARCH INFORMATION AND HOW WE
MIGHT BE ABLE TO USE THAT FOR
CONSUMER HEALTH.
WE'RE TRYING TO THINK OF HOW TO
TAKE THE INFORMATION THEY'VE
CONSTRUCTED AND USING IT TO PUSH
INFORMATION FOR PATIENT AND
CAREGIVER AUDIENCES.
AS ONE EXAMPLE HERE YOU CAN SEE
THE WEBSITE.
THIS IS VERY MUCH IN
DEVELOPMENT.
IT'S NOT REPRESENTATION OF A
FINAL PRODUCT.
IT'S A STARTING POINT AND PART
OF THIS HAS TO DO WITH WHAT WE
WANT TO DO IS WORK WITH THE
COMMUNITY TO BETTER UNDERSTAND
WHAT YOU WANT TO USE THIS
INFORMATION FOR AND THINK HOW WE
CAN THEN PUT IT IN A FORMAT THAT
MAKES SENSE TO CAREGIVERS AND
PATIENTS ONLINE.
HOW DO WE DO THIS FOR THOUSANDS
OF DISEASES?
WE'RE PULLING IN INFORMATION
FROM THOSE RESOURCE TO THINK OF
QUESTIONS SUCH AS AGE OF ONSET
SPECIFICALLY WHEN DO SYMPTOMS OF
A DISEASE BEGIN?
HOW CAN WE PERHAPS USE THE
INFORMATION TO THEN UNDERSTAND
TO UNDERSTAND RESOURCES BETTER
TARGETED TOWARDS PETE TRICK
PATIENTS OR CHILDREN?
AS AN EXAMPLE OF WHAT WE'RE
DOING WE'RE JUST TRYING TO PULL
IN THE INFORMATION FROM THOSE
DIFFERENT SYSTEMS.
YOU'LL SEE STUFF THAT DOESN'T
LOOK LIKE WHAT WE WANT SHARE IN
THE END BUT CREATE DIALOGUE STO
WE UNDERSTAND WHAT YOU NEED TO
KNOW TO UNDERSTAND THIS?
IS THIS A SIGN OR SYMPTOM A
DOCTOR HAS MENTIONED IN THE
OFFICE WITH THEM AND NOW HAVE TO
THINK WHAT INFORMATION WE SHOULD
PROVIDE?
IMAGES, PLAIN TEXT, DESCRIPTION
AND UNDERSTAND THAT IN
CONVERSATIONS WITH YOUR MEDICAL
TEAM.
ON TOP OF THAT WE'RE THINKING
ABOUT HOW WE CAN SCALE THIS OUT.
ONE OF THE THINGS JONI MENTIONED
EARLIER AND BROUGHT UP BY OTHERS
WAS THE NEED FOR EQUITY.
OFTEN TIMES WHEN YOU LOOK FOR
INFORMATION ONLINE FOR RARE
DISEASES YOU'LL FIND A LOT OF
INFORMATION ABOUT A COUPLE
HUNDRED AND USUALLY THOSE ARE
DISEASES WE MOST UNDERSTAND AND
HAVE THE HIGHEST NUMBER OF
PEOPLE THAT ARE AFFECTED BY
THEM.
WHAT WE WANT TO BE THINKING
ABOUT IS ALL 10,000 DISEASES AND
THINKING OF ALL THE WAYS WE NEED
TO PULL INFORMATION AND THINK
WHAT WE NEED TO PUT ON TO
BASICALLY SEARCH RESULTS WHEN A
PATIENT'S TRYING TO LOOK FOR
THAT.
AS PART OF THAT THIS MAY BE
ANSWERING SIMPLE QUESTIONS JUST
TRYING TO UNDERSTAND WHEN YOU'RE
TALKING TO A DOCTOR AND THEY'RE
MENTIONING YOU HAVE A GENETIC
DISEASE, WHAT'S THAT MEAN?
WHAT'S IT MEAN TO GET A GENETIC
TEST?
WHAT'S IT MEAN TO UNDERSTAND
INHERITANCE OR ISSUES THAT
AFFECT A FAMILY BECAUSE OF THAT?
I THINK OF THIS ALMOST LIKE
YOU'RE BUILDING A HOUSE.
WE CREATED A SCAFFOLDING AND
SAID HOW MANY ROOMS ARE
AVAILABLE IN THE FIRST FLOOR AND
SECOND FLOOR AND HAVEN'T FILLED
IN THE WALL PAPER OR APPLIANCES
AND THAT'S WHAT WE NEED NEXT
WITH YOUR HELP.
I STARTED THE FOCUS ON THE
DIAGNOSTIC ODYSSEY AND LOOKING
AT OTHERS ORGANIZATIONS
INFORMATION AROUND RARE DISEASE
AROUND CLINICAL SYSTEMS AND
CODING AND WE'VE STARTED TO
THINK CAN WE USE THAT TO THEN
SAY WHEN A PATIENT STARTS THEIR
DIAGNOSTIC PROCESS AND THEIR
FIRST STEP AFTER TALKING TO
PRIMARY CARE, WHICH SPECIALIST
DO WE NEED TO SEE?
MAYBE A GENETICISTS OR
NEUROLOGIST.
HERE'S A LINK TO AMERICAN
COLLEGE OF MEDICAL GENETICS AND
GENOMICS WHERE TO FIND THAT
GENETICISTS.
AGAIN, THIS IS TO THE WAY WE WE
ENVISION THIS NOT TRYING TO
REINVENT THE WHEEL BUT THINKING
WHAT IT IS PATIENTS ARE LOOKING
FOR AND HOW TO USE EXISTING
RESEARCH INFORMATION TO HELP
SUPPORT THEM IN THEIR JOURNEY.
I WANT TO NOTE WE'RE ONLY JUST
GETTING STARTED.
MANY CHANGES WILL BE COMING AND
AGAIN MUCH OF THE WORK STILL
NEEDS TO BE DONE ON THIS WE'RE
WORKING ON A LARGE UPLOAD OF NEW
DATA.
CURRENTLY ON THE WEBSITE WE ONLY
ARE USING SOME OF THAT DATA TO
REPRESENT 2500 DIFFERENT DISEASE
PAGES.
WE'LL ALMOST DOUBLE THAT IN THE
COMING MONTHS AND EXPECT TO BE
ABLE TO DO MORE AS WE THINK
ABOUT ALL THE OTHER QUESTIONS WE
NEED TO ANSWER AND WHERE THERE
MAY BE DATA RESOURCES OR
INFORMATION TO HELP SUPPORT
THAT.
UNFORTUNATELY IN THE MEANTIME
WHAT THAT'S GOING TO MEAN IS
YOU'LL SEE PAGES THAT LOOK LIKE
THIS WHERE YOU'LL SEE THIS
SECTION IS CURRENTLY IN
DEVELOPMENT.
OUR GOAL IS WE'RE APPLYING USER
EXPERIENCE AND HEALTH LITERACY
BEST PRACTICES IN OUR WEBSITE.
WE'RE BUILDING IT OUT AS WE GO
NOT WITH THE IDEA OF MAKE IT
PERFECT FROM THE START BUT MAKE
SURE WE'RE ADDRESSING YOUR NEEDS
AND COMMUNITY'S NEEDS AT A
WHOLE.
EXPECT TO SEE CHANGES.
VISIT THE GARD BOOTH FOR A SNEAK
PEEK OF WHAT WE'RE STARTING TO
DO AND SHARE YOUR INPUT AND HELP
US UNDERSTAND HOW TO PUT THE
INFORMATION TOGETHER IN A WAY
THAT MAKES SENSE FOR NEW
PATIENTS WITH RARE DISEASE
STARTING OUT THEIR DIAGNOSTIC
ODYSSEY.
AGAIN, THIS IS ONE OF SEVERAL
EFFORTS HERE AT NCATS AND WITHIN
THE NIH AS A WLOEL.
I WANTED TO NOTE SOME ARE
RELATED.
THANK YOU.
I'LL NOW HAND IT OFF TO
COLLEAGUES TO TALK ABOUT ANOTHER
PROGRAM RARE SOURCE.
>> WELCOME WE'RE HAPPY TO
BE ABLE TO CONNECT AGAIN.
IT'S GREAT TO BE BACK AND SEE
EVERYBODY.
TODAY, WE WANTED TO TALK
ABOUT -- I'M ELIZABETH OTTINGER
THE ACTING DIRECTOR OF OUR
THERAPEUTIC DEVELOPMENT BRANCH
WHICH IS AN INTRAMURAL BRANCH
WHERE WE WORK WITH VARIOUS
PARTNERS FROM ACADEMICS,
INDUSTRY AND GOVERNMENT TO MOVE
THERAPEUTIC DEVELOPMENT THROUGH
THE PRE-CLINICAL DEVELOPMENT
PIPELINE.
AND I'M HERE TO INTRODUCE AND
WE'RE EXCITED TO SHOW EVERYONE
VERSION 1 OF WHAT WE BUILT, RARE
SOURCE AN INTEGRATED BIO
INFORMATIC RESOURCE.
I'LL DO A FEW SLIDES TO
INTRODUCE THE CONCEPT AND HOW WE
STARTED THE DEVELOPMENT AND THEN
HAND IT OVER TO UMA MUDINURI AT
IN THE COLLABORATIVE EFFORT.
AS WE SAID EVERYTHING WE DO AT
NCATS IN A COLLABORATIVE AND
INTEGRATIVE MANNER TO WORK
TOGETHER.
THERE'S A RARE DISEASE PUBLIC
HEALTH CHALLENGE WE'RE WORKING
ON TOGETHER AND WE'RE WORKING
TOGETHER TO SPEED UP THE SEARCH
FOR SOLUTIONS.
HOW CAN WE MAKE IT EASIER AND
MORE EFFICIENT TO MAKE ACCESS
AND USE AVAILABLE DATA TO
DISCOVER TREATMENT FOR RARE
DISEASES?
AS YOU KNOW, THE MAJORITY OF
RARE DISEASES HAVE A GENETIC
ETIOLOGY AND SO BEING ABLE TO
HAVE ACCESS TO GENOMIC,
MOLECULAR, PHENOTYPIC AND
FUNCTIONAL DATA IS CRITICAL.
HOWEVER, THERE'S CHALLENGES
BECAUSE MUCH OF THIS DATA IS
OFTEN DISTRIBUTED OVER A WIDE
RANGE OF AREAS AND DATA SETS AND
IT'S HOW DO WE BRING THOSE
TOGETHER.
HOW CAN WE BRING THAT DATA
TOGETHER?
AGAIN, IT'S BEING ABLE TO ACCESS
THAT DATA WHICH IS VERY CRITICAL
AND THEN UTILIZE, INTEGRATE AND
HARMONIZE THE DATA.
AGAIN, HOW DO WE USE THE DATA IN
ORDER TO GAIN INSIGHTS ABOUT
RARE DISEASES AND FURTHER OUR
ABILITY TO DEVELOP NEW
THERAPIES?
SO IF YOU LOOK, DATA IS THE
FOUNDATION.
IT'S THE BEGINNING BUILDING
BLOCK YOU HAVE IN ORDER TO KEEP
BUILDING VALUE IN YOUR SYSTEM
UNTIL YOU GET MORE INFORMATION,
KNOWLEDGE AND THEN FURTHER
INSIDE INTO RARE DISEASES.
SO AGAIN, WE'RE HOPING TO BUILD
A SOLUTION THAT WE CAN WORK WITH
RESEARCHERS OR COMMUNITY OR
WHOLE RARE DISEASE COMMUNITY
CLINICIANS AND AGAIN RARE
PATIENT ADVOCATES IN ORDER FOR
THEM TO HAVE MORE ACCESS AND
AVAILABILITY TO THIS DATA.
HOW DID WE GO ABOUT THIS
DEVELOPMENT OF THIS INTEGRATIVE
BIOINFORMATICS RESEARCH AND THE
VERSION ONE IS A WORK IN
PROGRESS.
WE WANT FEEDBACK AND INTERACTION
WITH THE COMMUNITY TO UNDERSTAND
HOW THIS CAN BE A BETTER
RESOURCE FOR ALL OF YOU.
WHAT OUR GOAL WAS TO CREATE A
SEARCHABLE, ACCESSIBLE AND
USER-FRIENDLY RESOURCE AND
INTERFACE.
THE WAY WE WENT ABOUT IT IS WE
FIRST DID A TRAINING.
WE USED A COUPLE OF IN-HOUSE
PROJECTS WHERE WE'RE DOING DRUG
DEVELOPMENT AND TRANSPORTER
DISEASE AND USED IT THROUGH
MANUAL CREATION OF THE KNOWN ALL
RIGHT -- LITERATURE AND WE ARE
NOT REINVENTING THE WHEEL BUT
BRINGING TOGETHER AND
INTEGRATING INFORMATION THAT
ALREADY EXISTS.
WE'D LIKE TO APPLY NATURAL
LANGUAGE PROCESSING TO AUTOMATE
AND EXTRACT THE INFORMATION FROM
THE LITERATURE AND OUR ULTIMATE
GOAL IS HOW DO WE EXPAND IT AND
SCALE IT TO THE THOUSANDS OF
RARE DISEASES?
IF YOU LOOK ON THE RIGHT, THIS
IS THE WEBSITE YOU WILL COME TO
IF YOU GO TO OUR WEBSITE AND
AGAIN THIS IS A WORK IN PROGRESS
WE'RE BUILDING BUT OUR ULTIMATE
GOAL IS TO HOPE TO UNLOCK NOVEL
INSIGHTS INTO RARE DISEASE
COMMONALITIES THROUGH THIS
MULTIMODAL DATA INTEGRATION.
HERE'S THE WEBSITE ON THE TOP
AND THIS IS THE TYPE OF
INFORMATION WE STARTED WITH THE
GENOMIC WITH OUR GENES AND THE
VARIANTS AND UNDERSTANDING THE
PROTEINS IN THE DISEASE AND
BRINGING THOSE TOGETHER.
WE'LL FOCUS ON THE LINK TO
LITERATURE EFFORTS AND WHY THAT
CAN BE CRITICAL AND HELP IN RARE
DISEASE WITH GENETIC ETIOLOGY
AND THE RARE DISEASES GENES AND
HOW THE SYSTEM CAN HOPEFULLY
MAKE IT EASIER FOR PEOPLE TO
ACCESS THAT INFORMATION.
IT HAS CURATION OF THE GENE
VARYING ASSOCIATIONS FROM THE
LITERATURE AND DATABASES AND
IMPACT ANALYSIS PREDICTIONS.
THAT HAS BEEN INTEGRATED WITH
3-D PROTEIN STRUCTURE TO
VISUALIZE THE ANNOTATED
VARIANTS.
AGAIN THIS IS PROGRESS WE'LL
CONTINUE TO BUILD TO ADD MORE
INFORMATION IN THE CHEMISTRY,
PHENOTYPE, FUNCTIONAL ASPECTS OF
ALL THE INFORMATION SO AGAIN TO
FIND NEW WAYS TO FIND
THERAPEUTICS FOR RARE DISEASES.
OVER TO UMA.
>> IN MY PART OF THE
PRESENTATION I'LL GOING TO FOCUS
ON WHAT LIZ WAS POINTING TO HOW
WE GOT HERE FOCUSSING AND
TALKING ABOUT THE LITERATURE
MAINLY AND FOR US WE'RE
FOCUSSING ON RARE DISEASES THAT
HAVE A GENETIC ASSOCIATION
MEANING ONE OR MORE CHANGES IN
THE GENOME IS CAUSING THE RARE
DISEASE AND WE'RE TRYING TO
UNDERSTAND HOW THOSE CHANGES ARE
IMPACTING US.
HOW DO WE GET FROM THIS CHANGE
TO THE DISEASE ITSELF AND AS LIZ
SHARED IN HER FIRST SLIDE WAS
THE FIRST STEP FOR US IS TO BE
ABLE TO GET TO ALL THE
INFORMATION AND DATA OUT THERE
AND FILTER THE DATA SETS TO OUR
SPECIFIC GENES OF INTEREST.
WE'RE JUST LOOKING AT THOSE
ASSOCIATED WITH RARE DISEASES
AND THEN WE SAID NOW WE HAVE ALL
THESE MILLIONS OF VARIANTS, WHAT
DO THEY MEAN?
WE LOOKED AT OPEN SOURCE TOOLS
TO GET INFORMATION ON EACH
VARIANTS.
WHERE IS IT LOCATED AND
INTEGRATED ALL THE DATA AND
PRESENTED IT ON THE WEBSITE AS
3-D VISUALIZATIONS AND AS WE
LOOKED THROUGH WE KNOW MOST THE
INFORMATION WILL BE BURIED IN
PUBLISHED LITERATURE BECAUSE
MOST OF US AS RESEARCHERS WHEN
WE FIND SOMETHING THERE'S A NEW
EXPERIMENT AND A NOVEL FINDING
WE FIRST PUBLISH IT AS A
PEER-REVIEWED ARTICLE.
WHAT IF THE INFORMATION IS
BURIED OVER THERE AND WE DON'T
HAVE ACCESS THROUGH AN EASY TO
DOWNLOAD INTERFACE.
SOME HAVE ASKED THIS AND
DEVELOPED TOOLS TO GATHER
INFORMATION FROM THE LITERATURE.
WE LOOKED AT THOSE TOOLS AND
TRYING TO UNDERSTAND WHAT THEY
CONTAIN AND THEN WE DID A PILOT
STUDY WITH DISEASES.
AND OUR CURATOR LOOKED THROUGH
THE ARTICLES AND THE DISEASE IS
STILL ONGOING AND WE COMPARED
WITH THE EXISTING KNOWN
INFORMATION AND ARE THESE GAPS
VIABLE FOR US TO GO AND EXPLORE.
THIS IS A REAL NEED FOR THE
COMMUNITY AND YES, THERE'S STILL
A NEED TO EXPLORE THAT AND SCALE
THE EFFORT THROUGH THE THOUSANDS
OF RARE DISEASES OUT THERE AND
WE DID REACH OUT TO THE NATIONAL
LIBRARY OF MEDICINE BECAUSE
THEY'RE THE EXPERTS IN THIS
FIELD.
WE FOUND SOME COLLABORATIONS
OVER THERE AS WELL.
AND NOW WE'VE IMPLEMENTED THE
LANGUAGE MODELS WHERE WE LOOKED
AT THE NOVEL MODELS WHERE THEY
CAN IDENTIFY DISEASES AND GENES
FROM ANY KIND OF TITLE AND
ABSTRACTS THROUGH THE ENTIRE
MEDLINE.
WE INTEGRATED WITH GARD BECAUSE
THEY'RE DOING ALL THE DISEASE
HARMONIZATION FOR US AND
INTEGRATED TO GET THE GENE NAMES
AND THEN USING THESE RESULTS WE
NOW HAVE A LITERATURE A.I.
FEATURE AVAILABLE.
I'M GOING TO RUN THROUGH A FAST
PACE THE BROWSE FEATURE IS WHERE
YOU CAN ACCESS THE LITERATURE
A.I. YOU CAN SEARCH USING A RARE
DISEASE NAME OR GENE NAME AND
SEE THE ASSOCIATED RESULTS WHERE
THE TITLE ITSELF IS AVAILABLE
AND LINKED BACK TO PUB MED AND
YOU CAN READ THROUGH THE ARTICLE
IF THAT'S OF INTEREST AND SHOW
TRENDS ON THE PARTICULAR GENE OR
DISEASE OVER THE YEARS AS WELL
AS THE TALK JOURNALS WHERE THE
LITERATURE FOR THAT PARTICULAR
GENE OR DISEASE HAS BEEN
PUBLISHED.
THE SAME IS ALSO AVAILABLE IN A
COMBINATION SO YOU CAN SAY IF
I'M INTERESTED IN A RARE DISEASE
OR GENE WHAT ARE THE ASSOCIATED
DISEASES OR GENES?
YOU CAN EXPORT OUT THE TABLE AND
LOOK AT THE ALGORITHMS AND
MODELS AND DATABASE QUERIES.
OUR CURRENT STATUS IN ACTIVE
DEVELOPMENT WE'LL LOVE ALL THE
FEEDBACK THAT WE CAN GET.
WE'RE LOOKING TO CONTINUOUSLY
IMPROVE AND BECAUSE WE HAVE
COLLABORATIVE MEETINGS WE HAVE
242 RARE DISEASES WITH A GENETIC
ASSOCIATION AS WELL AS CLOSE TO
3,000 GENES TO BE EXPLORED
THROUGH THE RESOURCE.
WE ARE PLANNING TO RELEASE ALL
THE FEATURES PERIODICALLY.
FOR OUR FUTURE PLANS NEAR TERM
IS INTEGRATING THE MINING
ALGORITHMS DEVELOPED BY NLM AND
TRYING TO IMPLEMENT MODELS FOR
MINING THE CLINICAL AND
FUNCTIONAL CONTEXT ITSELF FROM
THE ARTICLE.
AND THIS IS OUR WONDERFUL TEAM.
THERE'S A BIG EFFORT HERE IN 10
MINUTES OF A PRESENTATION.
THERE'S A THERAPEUTIC
DEVELOPMENT BRANCH WITH A POSTER
AND FOR RARE DISEASE WE'RE
PLANNING TO DO LIVE DEMOS AT THE
BOOTH.
IF YOU CAN GIVE IT A TRY AND
GIVE US YOUR OPINION ON THE
FEATURE AND WHAT WE CAN DO TO
MAKE IT BETTER.
THANK YOU.
>> HELLO.
I'M QIAN ZHU I'M PART OF THE
CLINICAL INNOVATION TEAM.
YOU HAVE ALREADY HEARD ABOUT THE
CHALLENGE IN RARE DISEASE SPACE.
FOR INFORMATICS ASPECT WE
REVIEWED THE CHALLENGES AND
INFORMATION AND WE HAVE COME UP
WITH A NEW SYSTEM FOR PATIENTS
AND CLINICIANS AND SCIENTISTS TO
EMPOWER THE EFFORTS AND PROVIDE
EDUCATIONAL RESOURCE.
OUR PROJECT IS TO INTEGRATE THE
LATEST DATA IN A STRUCTURED,
STANDARDIZED WAY.
BY THE END OF THE DAY RARE
DISEASE WILL BE RARE DISEASE
WILL BE THE MAIN FEATURE
INCLUDING INTEGRATING DIVERSE
INFORMATION FROM DIFFERENT
RESOURCES.
THE CURRENT VERSION IS FOCUSSING
ON THE ARTICLES FROM PUB MED AND
THE CLINICAL TRIAL DATA AND THE
NIH-FUNDED GRANT DATA.
IN ORDER TO MAKE THE SYSTEM MORE
INCONNECTED WITH OTHER RESOURCES
AND USE AND STANDARDIZATION.
FOR EXAMPLE ALL THE DATA OR
CONCEPT IN OUR SYSTEM WILL
STANDARDIZE WITH THE WELL KNOWN
RARE DISEASE BEST CONTROL
VOCABULARY WITH GARD AND
ORPHANET AND WILL SEND OVER TO
THE SUBSCRIBERS AND HAVE A
USER-FRIENDLY INTERFACE AND API
TO ACCESS THE DATA.
TO IMPLEMENT THE MAIN FEATURES
I'LL QUICKLY GO THROUGH THE
ARCHITECTURE OF THE SYSTEMS.
FOR THE FIRST STEP WE CONNECT
THE DATA LIKE I MENTIONED BEFORE
TO CONNECT THE DATA FROM PUB MED
FROM NIH-GRANT FUNDING DATA AND
OPEN DATA AND IF YOU HAVE A
SUGGESTION WITH ANOTHER RESOURCE
WE CAN FURTHER INTEGRATE WE'RE
HAPPY TO HEAR THAT.
ONCE WE COLLECT THE DATA WE GO
THROUGH THE NEXT STEP TO
ANNOTATE THE DATA FROM THE
ORIGINAL RESOURCES.
AND TRANSLATE IT INTO A
MACHINE-READABLE FORMAT FOR
IMPROVEMENT.
WE DEVELOP MODELS BASED ON DEEP
LEARNING AND MACHINE LEARNING
AND ANALYZE THE DATA FROM THE
ORIGINAL RESOURCE.
ONCE THE DATA HAS BEEN PREPARED
WE USE CONTROLLED VOCABULARIES
TO REPRESENT THEM.
FOR THE DISEASE CONCEPT WE FOCUS
ON GARD, ORPHANET AND PHENOTYPE
ONTOLOGY AND FOR OTHER CONCEPTS
LIKE GENES WE SELECT DIFFERENT
VOCABULARIES TO HARMONIZE THEM.
ONCE THE DATA HAS BEEN PREPARED
AND GO THROUGH THE FIRST STEP.
WE DEFINE A DATA MODEL TO
CAPTURE ALL THE MEANINGS OF EACH
OF THOSE CONCEPTS TO CONNECT AND
THE RELATIONSHIP PRESENT BETWEEN
THE TWO CONCEPT.
BASED ON THE DATA MODEL WE
INTEGRATE ALL THE INFORMATION IN
A CENTRALIZED DATA REPOSITORY.
WE'RE USING A GRAPH PROVIDER
REPRESENTING THE INDIVIDUAL
CONCEPT AND THE RELATIONSHIP IS
REPRESENTED BETWEEN THE TWO TO
HELP US TO UNDERSTAND HOW THE
RELATIONSHIP BETWEEN THE
CONCEPTS.
WITH THE DATA FOUNDATION HAS
BEEN SET UP NOW WE DEVELOP THE
WORK FOR USERS TO SEARCH OR
BROWSE THE INFORMATION WE
CONNECT AND ONCE A NEW UPDATE
COMES UP WE'LL SEND IT TO THE
USER.
THIS IS OUR BETA VERSION OF THE
RDAS.
SO THE RIGHT-HAND SIDE IS GARD
DISEASE CLASSIFICATION TREE TO
ALLOW YOU TO NAVIGATE ALL THE
HIERARCHICAL STRUCTURES FOR THE
DISEASE OF INTEREST AND ONCE YOU
CAN USE THE SEARCH TO SEARCH
WHATEVER DISEASE YOU'RE
INTERESTED IN AND LIKE I SAY IF
YOU WANT TO RECEIVE THE ALERTS
YOU ARE REQUIRED TO SIGN UP TO
THE TOOL.
ONCE YOU SIGN IN YOU'LL BE ABLE
TO SUBSCRIBE FOR ANY ALERTS YOU
WANT TO RECEIVE FOR EACH
INDIVIDUAL INTEREST OF DISEASE
AND IT'S CLICKABLE.
ONCE YOU CLICK YOU WILL BE ABLE
TO NAVIGATE TO THE INDIVIDUAL
DISEASE PAGE.
THIS IS A PAGE YOU'LL BE ABLE TO
SEE.
WE HAVE A MAIN TAP.
A
AND YOU CAN CLICK ON THE TAB FOR
ARTICLES AND THIS IS BASED ON
DEEP LEARNING MODEL AND EACH
ARTICLE YOU'LL SEE THE
INFORMATION AND THE ANNOTATIONS.
YOU'LL SEE THE INFORMATION
YOU'RE LOOKING FOR AND FOR EACH
OF THOSE SUBPROJECTS YOU'LL SEE
THE ANNOTATIONS AND YOU DON'T
HAVE TO JUST LOOK THROUGH THE
ENTIRETY BUT GO THROUGH THIS TO
FIND THE INFORMATION YOU'RE
LOOKING FOR.
IF YOU GO THROUGH THE CLINICAL
TRIAL YOU CAN FIND SIMILAR
INFORMATION AND THEN BREAK DOWN
DIFFERENT TABS TO BROWSE ALL THE
INFORMATION.
ALSO IF YOU'RE INTERESTED STOP
BY POSTER 46 AND BESIDES THIS
INFORMATION YOU CAN FIND THE ULI
AND DO THE RESEARCH ANALYSIS.
THESE ARE TWO CASE STUDIES TO
SHOW HOW WE USE THE DATA WE
CONNECT TO SUPPORT LANDSCAPE
ANALYSIS.
ON THE RIGHT-HAND SIDE PLOT
SHOWS THE FUNDING GENERATED BY
THE FUNDING GRANT DATA WE
CONNECT FOR THE RARE DISEASES IN
THE PAST 20 YEARS.
FROM THE CHART AND OVER YEARS
THE FUNDING HAS INCREASED.
ALSO THE RIGHT-HAND SIDE IS
SHOWING HOW WE CAN USE THE TRIAL
DATA WE CONNECT TO CATEGORIZE
THE TRIAL BY INTERVENTION TYPE.
THE GREATEST NUMBER OF TRIALS
HAS BEEN DEDICATED TO DESIGN.
I THINK THIS IS ENCOURAGING.
WE CAN EXPECT SOME OF THIS
COMING UP IN THE NEAR FUTURE.
AND WHAT IS INTERESTING TO
DISCUSS OR HEAR MORE CASE
STUDIES WITH OUR DATA PLEASE
STOP BY OUR POSTER.
SO WE HAVE A SOFT RELEASE FOR
INTERNAL USE TO SEEK FEEDBACK
FROM NIH STAFF.
I WANT TO REITERATE THE GOAL IS
TO UPDATE ALL BIO MEDICAL DATA
AND PROVIDE EDUCATIONAL RESOURCE
AND ADVANCING RESEARCH IN RARE
DISEASE.
OUR TARGET USER IS VERY WIDE
RANGE.
WE HOPE THE PATIENT FAMILIES AND
CURATORS CAN USE THIS AS AN
EDUCATIONAL RESOURCE AND
CLINICIANS AND SCIENTISTS WILL
BE ABLE TO USE THE DATA TO
SUPPORT THEIR OWN RESEARCH.
LOOK OUT AND WE'LL HAVE A PUBLIC
RELEASE BY JULY 2023.
I HAVE A HUGE AMOUNT OF PEOPLE
AND WITHOUT THE DEDICATED EFFORT
I WON'T BE ABLE TO INTRODUCE
THIS AND WE HAVE HAD TRAINEES
THAT ADDED TO THE EFFORT AND
COLLEAGUES AND SUPPORT FROM
OTHERS AND THIS RESEARCH WAS
SUPPORTED BY INTRAMURAL AND
EXTRAMURAL PROGRAM AND DATA SETS
FROM OFFICE OF DATA SCIENCES
STRATEGIES TO FUND THE PROJECT
AND WE HAVE THIS NEW RARE
DISEASE INFORMATICS SCIENTIFIC
INTEREST GROUP SET UP SO IF
YOU'RE INTERESTED PLEASE JOIN UP
TO WORK TOGETHER ADVANCE THE
TRANSLATIONAL RESEARCH IN RARE
DISEASE.
THANK YOU.
>> THANK YOU FOR MAKING THE TRIP
TO D.C. FOR THE RARE DISEASE
DISEASE AND WOULD LIKE TO SHARE
THE PLATFORM VECTOR GENE THERAPY
PROGRAM WITH YOU ALL.
WE'RE ALL AWARE OF THE DIFFERENT
CHALLENGES IN THE FIELD OF GENE
THERAPY SUCH AS THE HIGH COST OF
MANUFACTURING AND THE LIMITED
ACCESS TO EXPERTISE AND
RESOURCES.
SO PAVE-GT IS AN EXPERIMENTAL
PROGRAM WHERE WE'RE TRYING TO
TEST THE HYPOTHESIS WHETHER
USING A PLATFORM VECTOR APPROACH
CAN INCREASE THE EFFICIENCY IN
PRE-CLINICAL TESTING AS WELL AS
CLINICAL TRIAL START-UP.
WE HAVE SELECTED FOUR RARE
DISEASES FOR WHICH WE HAVE
DEVELOPED GENE THERAPIES USING A
PLATFORM AAV VECTOR.
WE'LL DEVELOP THROUGHOUT THE
PRECLINICAL DEVELOPMENT STEPS
AND LOOK AT PROCESSES AND
ANALYTICAL METHODS AND STUDY
DESIGNS AS WELL AS ADOPTING THE
SAME REGULATORY PATHWAY.
ONCE WE GET TO THE TRIALS WE'D
LIKE TO USE COMMON CRITICAL
PROTOCOL ELEMENTS WHEREVER
POSSIBLE AND THE OVER ALL AIM IS
TO IDENTIFY REDUNDANCIES IN THE
DIFFERENT DEVELOPMENT STEPS AND
ALSO LOOK INTO THE ABILITY WHERE
WE MIGHT BE ABLE TO LEVERAGE
DATA AS WE MOVE FROM ONE PRODUCT
ON TO THE NEXT.
AND AS WE ARE DOING ALL OF THIS
WE WOULD LIKE TO MAKE OUR DATA
PUBLICLY AVAILABLE.
PAVE-GT IS A HUGE TEAM EFFORT
AND PARTNERSHIP BETWEEN
DIFFERENT NIH INSTITUTES.
THE NCATS TEAM IS LED BY
DR. ELIZABETH OTTINGER DOING THE
PRE CLINICAL DEVELOPMENT WORK
AND DR. BROOKS AT THE DRDRI AND
NINDS IS BEING ALSO INVOLVED.
I'D LIKE TO ACKNOWLEDGE THE
SIGNIFICANT CONTRIBUTION EACH
AND EVERY MEMBER OF THIS TEAM IS
MAKING TOWARDS THE EFFORT.
SO WE HAVE FOUR RARE DISEASES TO
ORGANIC ACIDEMIAS AND THEY'RE IN
DIFFERENT STAGES OF THE
DEVELOPMENT PATHWAY.
SOME ARE IN THE EARLIER PHASE
AND ONE GROUP IS DOING THE PROOF
OF CONCEPT AND LEAD CANDIDATE
OPTIMIZATION STUDIES.
AND WORK INITIATED IN THE GROUP
AT NHERI LEAD OPTIMIZATION
STUDIES AND CURRENTLY THE NCATS
THERAPEUTIC DEVELOPMENT BRANCH
IS DOING THE DEVELOPMENT WORK
FOR THESE.
AND THIS IS THE FURTHEST ALONG
OF ALL THE FOUR CANDIDATES AND
IT IS GOING TO BE THE MAIN FOCUS
FOR THE UPDATES TODAY.
WHAT YOU CAN SEE HERE IS A
REGULATORY SNAPSHOT OF THE
REGULATORY PATHWAY WE HAVE
ADOPTED FOR THE FIRST PRODUCT OF
THE PAVE-GT PROGRAMS FOR
AAV9HPCCA A GENE THERAPY
TREATMENT FOR THE INDICATION
PROPIONIC ACIDEMIA RESULTING
FROM A DEFICIENCY OF PCCA.
WE HAD AN EARLY ENGAGEMENT WITH
THE FDA AND UTILIZING THE
FEEDBACK WE'RE ANTICIPATING A
MEETING THIS SUMMER AND WILL
SUBMIT TO FDA FOR REVIEW AND
AFTER THAT THE FIRST IN HUMAN
CLINICAL TRIALS WILL BE
INITIATED AT THE NIH CLINICAL
CENTER.
WE'VE ALSO TAKE ADVANTAGE OF THE
INCENTIVE PROGRAMS FOR ORPHAN
DRUG DEVELOPMENT AND THE PRODUCT
HAS BEEN DESIGNATED AN ORPHAN
DRUG DESIGNATION AS WELL AS
QUALIFIES AS A DRUG FOR RARE
PEDIATRIC DISEASE.
DIVING DEEPER INTO THE INTERACT
MEETING, NON-BINDING BUT THE
MEETING ARE A GREAT WAY TO
ENGAGE WITH THE FDA EARLIER ON
IN THE DEVELOPMENT OF ANY
PROGRAM AND GET FEEDBACK.
THEY AGREED WITH A PROOF OF
CONCEPT DATA IN ANIMAL MODELS
AND PROVIDED FEEDBACK AND
GUIDANCE HOW TO GO ABOUT THE
IMMUNOGENICITY STUDIES NEEDED
FOR THE PROGRAMS.
IMPORTANT OF ALL FDA SHARED WE
MAY BE ABLE TO USE THE CAPSID
BIO DESCRIBE USING DATA MOVING
FROM ONE PRODUCT ON TO THE NEXT.
SO THIS IS A GREAT LESSON
LEARNED FOR OUR TEAM AS WE FEEL
THIS MAY BE AN AREA WE CAN
PROBABLY CREATE EFFICIENCIES
USING THE PLATFORM VECTOR
APPROACH.
SO WE'LL BE SHARING THIS
INFORMATION AFTER FDA REVIEWS
OUR PACKAGE AND WE REACH THAT
STAGE.
WE WERE IN THE EARLIER STAGE OF
CMC MANUFACTURING.
WE DID NOT ADD MUCH INFORMATION
TO OUR PACKAGE FOR THE FDA TO
REVIEW.
STILL THE AGENCY WAS REALLY
HELPFUL AND THEY SHARED RELEVANT
GUIDANCES THAT COULD HELP US
WITH THE PROCESS DEVELOPMENT,
GMP MANUFACTURING, QUALITY
ATTRIBUTES NEEDED AND THE TYPES
OF POTENCY ASSAY.
WE BELIEVE TO GET VALUABLE
FEEDBACK ON FDA IT'S IMPORTANT
TO HAVE COMPLETE PACKAGE
AVAILABLE AT THAT STAGE OF
DEVELOPMENT.
AND FDA REVIEWED CLINICAL TRIAL
DESIGN AND GAVE US FEEDBACK AND
ALSO SUGGESTED BEST WAYS HOW TO
SELECT PATIENT FOR TRIALS FOR
RARE DISEASES WHICH INVOLVE THE
PEDIATRIC POPULATION.
IN A NUTSHELL THIS WAS A
VALUABLE EXPERIENCE FOR OUR TEAM
AND WE RECOMMEND EVERYONE TO
HAVE AN INTERACT MEETING AND
ENGAGE WITH THE FDA EARLY ON.
GETTING A LITTLE BIT INTO THE
INCENTIVE PROGRAMS, WAY BACK IN
1983, CONGRESS PASSED THE ORPHAN
DRUG ACT AS YOU'VE BEEN IN THE
VARIOUS TALKS AND EVER SINCE
THEN FDA HAS APPROVED OVER 1100
TREATMENT FOR RARE DISEASES.
THERE'S INCENTIVE PROGRAMS SUCH
AS THE ORPHAN DRUG DESIGNATION
AND THE TWO WE HAD TAKEN
ADVANTAGE OF AND THESE
DESIGNATIONS PROVIDE SUBSTANTIAL
FINANCIAL INCENTIVES.
I'M HAPPY WE HAVE THESE
DESIGNATIONS BUT WHAT WE ARE
REALLY HAPPY ON THE 40th
ANNIVERSARY OF THE ORPHAN DRUG
ACT THE PAVE-GT IS RELIEVING THE
REGULATORY DOCUMENTATION FOR
RARE PEDIATRIC DISEASE
DESIGNATION.
WE ALSO DRAFTED A WHITE PAPER
WHICH IS LOOKED AT A STEP WISE
MANNER HOW TO USE THE RESOURCES
AND GUIDANCES OUT THERE TO GO
AND COMPILE OUR APPLICATION SO
AT THIS POINT IN TIME THE
TEMPLATES HAVE BEEN RELEASED ON
THE WEBSITE AND IT'S IN PRESS
AND DUE IN THE COMING DAYS.
AS WE MOVE AHEAD WITH THE
PLATFORM WE'D LIKE TO
DISSEMINATE THE INFORMATION AND
DATA FROM THE LEARNINGS OF THIS.
THE OVER ALL AIM IS WE SHARE THE
LESSONS LEARNED AND ANY
EFFICIENCIES GAINED THROUGH THE
PRE-CLINICAL AND REGULATORY AND
CLINICAL SPACE.
WE'D LIKE TO PAVE THE WAY FOR
MORE GENE THERAPY DEVELOPMENTS
AND I'D URGE EVERYONE TO
SUBSCRIBE TO THE WEBSITE FOR
UPDATES AND VISIT AND TALK MORE
IN DETAIL ABOUT THE REGULATORY
PATHWAY AND THE PAVE-GT
PLATFORM.
THANK YOU, EVERYONE.
>> CAN YOU ADDRESS THE FIRST
QUESTION.
>> NOT YET BUT WE WOULD LIKE TO.
TO GO INTO MORE DEPTH ON THAT
ONE.
SO ALPHA FOLD IS A PROTEIN
STRUCTURE MODELLING ALGORITHM
RECENTLY RELEASED AND THEY'VE
DONE A REALLY GOOD JOB AT
PREDICTING SOME OF THE PROTEINS
SEQUENCES NOT WITH ALL OF THEM
YET BUT MANY.
AND WE MAY CHANGE THE STRUCTURE
AND THE ALGORITHM IT SOLVE
DOESN'T CAPTURE ALL THE DETAILS
YET.
AND WE ARE LOOKING AT THE NEWER
ALGORITHMS COMING OUT TRYING TO
DO EXACTLY THAT SO THERE ARE
VARIANT MODELLING ALGORITHMS
THAT MULTIPLE GROUPS ARE LOOKING
AT AND WE'RE ACTIVELY LOOKING AT
THEIR RESEARCH AND THEIR RESULTS
TO BE ABLE TO INTEGRATE.
NOT YET BUT HOPEFULLY IN THE
NEAR FUTURE.
>> GREAT, THANK YOU.
WE'LL TRY TO GO THROUGH AS MANY
QUESTIONS.
FIRST ONE DOWN HERE.
>> I HAVE A COMMENT AND A
QUESTION.
MY COMMENT IS THAT I'M AMAZED
WHEN YOU TALKED ABOUT THE
DIAGNOSTIC JOURNEY AND PATIENTS
LIVING WITH RARE DISEASE.
THEIR STORY SOUNDS LIKE UNDER
REPRESENTED GROUPS.
SOMETHING I'D ASK OF THIS GROUP
IS THAT THESE RESOURCES ARE
PHENOMENAL AS YOU'RE DEVELOPING
THEM.
I'D LIKE TO ASK YOU TO SPEND
JUST AS MUCH AS ENERGY ON THE
COMMUNICATION PLAN AS DEVELOPING
IT BECAUSE THE PEOPLE WHO NEED
TO KNOW ABOUT IT AND CONTRIBUTE
TO IT AND ENSURE IT'S
REPRESENTATIVE IT WON'T WORK
WITHOUT HAVING THAT
REPRESENTATION BUT IF THEY DON'T
KNOW ABOUT IT THEY CAN'T GET TO
IT.
THAT'S MY COMMENT.
MY QUESTION RELATE TO APPLYING
THIS IN A CLINICAL TRIAL.
IT'S NOT SPECIFICALLY TO YOU BUT
KIND OF IN GENERAL.
ONE OF MY ISSUES WHICH ERIC ALSO
RAISED IS THAT RARE DISEASES I'M
RESPONSIBLE FOR ARE VERY
HETEROGENOUS AND IT'S LIKELY THE
CLINICAL MANIFESTATION OF A
PATIENT MAY LOOK LIKE OTHER
DISEASES THAN OTHER PEOPLE WHO
HAVE THAT CONDITION BUT CLINICAL
TRIALS HAVE SMALL PATIENT
POPULATIONS AND THE BIGGEST
CONCERNING IS HAVING 10 PEOPLE
AND SAYING THESE ARE
REPRESENTATIVE OF EVERYBODY WITH
THIS CONDITION.
HOW DO YOU GUYS AVOID THAT OR
ENGAGE WITH INVESTIGATORS AND
SAY BE CAREFUL ABOUT SAYING THIS
SAY GENERALIZABLE RESPONSE WHEN
THERE'S SO MUCH HETEROGENEITY
AMONG RARE DISEASE.
>> I'LL RESPOND TO THE COMMENT
AND SEE IF ANYONE WANTS TO ADD.
I'M A MEMBER OF THE NIH UNITE
INITIATIVE DR. TABAK MENTIONED
THINKING ABOUT DIVERSITY,
EQUITY, INCLUSION AND
ACCESSIBILITY AND WITHIN OUR
BIOMARKER STRUCTURE.
SPECIFICALLY FOR RARE DISEASES I
THINK THE SAME ISSUE.
IT'S SMALL POPULATIONS IS THE
DIFFICULTY.
AND SMALL POPULATIONS YOU CAN
THINK OF IT FROM A RARE DISEASE
STANCE AND SAME WHEN YOU THINK
OF ETHNIC AND RACIAL GROUPS AND
AGE GROUPS AND OTHER WAYS TO
THINK OF UNDER SERVED
POPULATIONS.
THERE'S OVERLAP.
IT REQUIRES INTENTIONAL THINKING
ABOUT OUR APPROACH AND WE'RE
TRYING TO START WITH ASKING
QUESTIONS.
WHAT DATA'S AVAILABLE?
WHAT DO WE KNOW?
UNTIL WE CAN START TO COLLECT
THIS ALL AND SEE WHERE THE GAPS
ARE, WE'RE NOT GOING TO ADDRESS
THE TYPES OF QUESTIONS YOU AND I
HAVE ABOUT THESE POPULATIONS.
WITHIN CLINICAL TRIALS I THINK
IT GOES AND OUR DIVISION OF
CLINICAL INNOVATION HAS THE
TRIAL INNOVATION NETWORK WHICH
LOOKS AT ISSUES LIKE THIS
ENSURING AS YOU THINK OF
RECRUITMENT, HOW'S IT AFFECT
ISSUES WHEN YOU THINK OF SMALL
POPULATIONS AND ESPECIALLY UNDER
SERVED POPULATIONS.
AND WITHIN THE RARE DISEASE
CLINICAL RESEARCH NETWORK
THERE'S A GROUP FOCUSSED ON DEI
DEIA ISSUES.
>> IN THE PRECLINICAL SPACE WE
HAVE AN EFFORT INITIATED BY OUR
THERAPEUTIC DEVELOPMENT BRANCH
TO LOOK AT A LANDSCAPE ANALYSIS
AND UNDERSTAND THE UNDER
REPRESENTED POPULATIONS AND
TRYING TO DO DRUG DEVELOPMENT SO
WE'RE INTERESTED IN THAT.
CHECK OUT THE SESSION ON DEI AND
GENE TARGETED THERAPIES.
>> I HOPE THIS IS APPROPRIATE,
IF NOT LET ME KNOW.
IN REGARDS TO CURES UNTIL WE
HAVE ONE I WANT TO TALK ABOUT
SYMPTOMOLOGY.
MANY RARE DISEASES ARE
ACCOMPANIED BY PAIN.
IN 2016 THE CDC GUIDELINES AND
THE POPULATION THAT I WORK WITH
THAT ARE IMPACTING MY KIDS,
PANCREATITIS AND WE HAVE A HUGE
ISSUE WITH OUR PEDIATRIC
PATIENTS NOT BEING ABLE TO
ACCESS ADEQUATE PAIN MANAGEMENT.
I'M VERY CONCERNED ABOUT THAT.
IT'S NOT JUST OUR POPULATION,
SICKLE CELL A NUMBER OF
POPULATIONS AND A LOT OF RARE
DISEASES HAVE STIGMA TO IT AND
OPIOIDS HAVE STIGMA AND WE SEE
TRAUMA WITH OUR KIDS
TRANSITIONING FROM 18 TO 20, 21
IN REGARDS TO THE STIGMA, RARE
DISEASE AND IS THERE ANYTHING
BEING DONE IN REGARDS TO THAT
SYMPTOM OF PAIN THAT ACCOMPANIES
OR IS THAT NOT AN APPROPRIATE
QUESTION?
[TECHNICAL DIFFICULTIES]
-- IT'S THE INFORMATION
CLINICIANS ALSO HAVE AS WELL.
TO US IT'S WHAT WE'RE ALL
LOOKING TOWARDS.
WE DON'T WANT TO SILO EFFORTS AS
A PATIENT LEADER YOU HAVE TO GO
TO EACH GROUP INDIVIDUALLY TO
UPDATE INFORMATION.
PART OF WHAT WE NEED TO DO IS
THINK WHAT HELPS IMPROVE THE
INFORMATION FOR RARE DISEASES AS
A WHOLE AND HOW TO WE GAIN
ACCESS FOR EVERY EFFORT TO HAVE
AN IDEA.
>> I'VE WORKED WITH THE
RESEARCHERS AND I GOT MY VARIANT
OF UNKNOWN SIGNIFICANCE TO
LIKELY PATHOGENIC.
I'VE BEEN THROUGH THE ROAD AND
DR. BERG TOLD ME SOMETIMES THEY
DON'T WANT TO PUBLISH DATA ON
RESEARCH ON THESE ULTRA RARE
DISEASES BECAUSE THEY'RE NOT AS
POPULAR AS SOME OF THE MORE
POPU
POPULAR SPINOBELLARATAXIA AND IF
THEY DON'T GET PUBLISHED THE
RESEARCH DOESN'T GET FUNDED.
>> I THINK WE HAVE TO END THE
SESSION BUT I SUGGEST YOU GO UP
TO THE GARD BOOTH AND TALK TO
ERIC AND THE TEAM OF GETTING
THAT INFORMATION INTO GARD.
I ENCOURAGE ALL OF YOU TO DO
THAT.
MANY PRESENTATIONS HERE THERE'S
BOOTH OUTSIDE TO FOLLOW-UP.
>> THANK YOU FOR ANSWERING MY
QUESTION.
I APPRECIATE.
>> THANK YOU.
MANY OF THE PROGRAMS WE TALKED
ABOUT IN SESSION 1 DO HAVE
BOOTHS OR POSTERS AND OUR STAFF
WILL BE HERE THE WHOLE DAY.
TRYING TO FIND THEM AND ENSURE
THEY CAN ANSWER QUESTIONS.
>> I WANT TO INTRODUCE NIKITA
CURRY IN THE CLINICAL CENTER.
A CO-SPONSOR OF THIS EVENT.
THANK YOU.
>> I'M NIKITA CURRY IN THE
OFFICE OF PATIENT RECRUITMENT
UNDER OFFICE OF COMMUNICATION
AND MEDIA RELATIONS.
MY OFFICE EDUCATES PATIENTS AND
HEALTHY VOLUNTEERS.
WE TALK TO PEOPLE ALL OVER THE
WORLD ABOUT THEIR DISEASES.
WE TRY TO PROVIDE THEM RESOURCES
TO HELP THEM AND GUIDE THEM AND
GIVE THEM THE BEST GUIDANCE TO
MOVE FORWARD WITH THE
APPROPRIATE CARE THEY NEED TO
HELP THEM GET THROUGH THE
TROUBLING TIMES OR GET TO A
STUDY OR IF THEY NEED
INFORMATION ON A CLINICAL TRIAL
MY OFFICE HELPS THEM AND OPEN
MONDAY THROUGH FRIDAY 8:00 TO
4:00.
WE USE SEVERAL RESOURCES.
I'LL GO OVER A FEW TODAY TO
SHARE WITH YOU HOW WE FIND THE
CLINICAL TRIALS AND HOW YOU CAN
FIND THE CLINICAL TRIALS.
IF YOU HAVE TROUBLE USING OUR
WEBSITES THAT'S WHY WE'RE THERE.
YOU CAN CALL US AND WE'LL HELP
YOU FIND THE INFORMATION YOU
NEED.
WE HAVE DIFFERENT CONTRACTORS
THAT CAN HELP US WITH THOSE WHO
SPEAK DIFFERENT LANGUAGES SO
DON'T BE AFRAID TO CONTACT US IF
YOU SPEAK A DIFFERENT LANGUAGE
WE CAN HELP YOU.
THIS IS A WEBSITE WE USED CALLED
SEARCH TO STUDIES.
IT WAS REVAMPED LAST YEAR AND
TRIED TO MAKE IT MORE USER
FRIENDLY AND SEVERAL DROP DOWNS
FOR DIFFERENT CHILDREN'S STUDIES
AND REMOTE STUDIES.
THE OPTIONS WEREN'T THERE A YEAR
AGO.
YOU CAN LOOK BY SEX OR INSTITUTE
AND IT'S FOR ALL THE STUDIES
THAT HAPPEN HERE FOR NIH.
THE OTHER WEBSITE -- I HAD THE Q
CODES TO TAKE YOU DIRECTLY TO
THE WEBSITES.
I THOUGHT THAT'D BE A GREAT
RESOURCE TO SHARE.
THIS OTHER WEBSITE IS CLINICAL
TRIALS.gov.
THEY HAVE STUDIES THROUGHOUT THE
WHOLE COUNTRY ABOUT 50 STATES
AND 221 COUNTRIES.
IT'S THE SAME AS THE SEARCH THE
STUDIES OTHER THAN IT CAN SHARE
INFORMATION FOR STUDIES ANYWHERE
AROUND THE WORLD.
WE CAN ALSO DO THIS INFORMATION
FOR YOU WHEN YOU CALL US.
WE CAN GIVE YOU THIS INFORMATION
OVER THE PHONE AND GO OVER THE
STUDY AND QUESTIONS AND CONCERNS
YOU HAVE ABOUT THE STUDY.
MY TEAM IS THERE TO HELP SUPPORT
YOU AND GET YOU THROUGH WHAT IS
NEEDED.
YOU HAVE THE WEBSITE AND WE'LL
BE THERE TO HELP YOU.
YOU CAN SEND AN E-MAIL AND ALL
THE INFORMATION IS IN THE DECK.
I'LL SHARE THAT INFORMATION
TODAY AS WELL.
OFTEN TIMES WE DO HAVE PEOPLE
WHO CALL US AND DON'T HAVE THE
DISEASE AND WE HAVE AN
UNDIAGNOSED DISEASE NETWORK.
THIS IS A GREAT WEBSITE WE USE
ON A DAY TO DAY TO HELP PEOPLE
PROVIDE THEM WITH RESOURCES TO
SHARE IF THE CAN'T FIND --
THEY'RE HAVING SYMPTOMS AND
DON'T KNOW WHAT THE DISEASE IS.
SO WE KIND OF GO THROUGH THE
WEBSITE WITH THEM WHEN THEY'RE
ON THE PHONE WITH US OR IF THEY
SEND US THE E-MAIL WE CAN SHOW
THEM HOW TO USE THE WEBSITE.
IT'S VERY BENEFICIAL AND HELPFUL
TO THOSE EXPERIENCING SYMPTOMS
BUT DON'T KNOW WHERE TO START.
THIS IS ONE OF THE FIRST
WEBSITES WE CONNECT PEOPLE WITH
WHEN THEY COME TO US AND DON'T
HAVE -- THEY ARE EXPERIENCING
PAIN AND HAVING SYMPTOMS AND
DON'T KNOW WHERE TO GO.
I WANTED TO SHARE THIS WEBSITE
WITH THE AUDIENCE.
IT'S HELPED INDIVIDUALS WHO
CONTACTED US IN THE PAST AND I'M
PROUD OF THE WORK THEY'RE DOING
AND IT'S A GREAT RESOURCE TO
HAVE.
AND ANOTHER HELPFUL HINT AND MY
COLLEAGUE WILL SPEAK IN MORE
DETAIL ABOUT THIS BUT I WANTED
TO SHARE INFORMATION ON THE
CHILDREN'S END.
WE HAVE CHILDREN'S STUDIES HERE.
A LOT OF PEOPLE DON'T KNOW THAT
AND WE WANT PEOPLE TO KNOW WE'RE
HERE IF YOU HAVE A CHILD ON A
STUDY -- YOU HAVE TO BE ON A
STUDY, WE CAN'T JUST CALL UP.
IT'S NOT LIKE A NORMAL HOTEL
WHERE YOU SHOW UP AND ASSUME
THEY'LL TAKE YOU.
AISHA WILL GO OVER THAT IN MORE
DETAIL BUT PHENOMENAL STAFF AND
PHENOMENAL PLACE AND GREAT
RESOURCE WE LIKE TO SHARE WHEN
WE'RE SPEAKING WITH PATIENTS AND
THEIR FAMILY MEMBERS ABOUT THE
STUDIES AT THE NIH AND THEY'RE
COMING FROM AFAR.
SAME FOR THE SAFRA LODGE.
TYPICALLY WHEN YOU'RE ON A
STUDY, WE WILL CONNECT YOU WITH
A SOCIAL WORKER AND THEY'LL SET
UP ALL THIS INFORMATION FOR YOU
SO HAVE YOU A RESOURCE AND
CONTACT THAT WILL HELP YOU GET
THROUGH ANYTHING YOU NEED DURING
YOUR TIME HERE ON A CLINIC
STUDY.
AND I WANTED TO TALK ABOUT FOR A
RARE DISEASE IF YOU KNOW SOMEONE
PERSONALLY OR COMING WITH YOUR
FAMILY MEMBER AND HERE FOR AN
EXTENDED PERIOD OF TIME.
WE NEED HEALTHY VOLUNTEERS.
THEY PLAY A VITAL ROLE TO SOME
OF THE RARE DISEASES WE HAVE
GOING ON HERE.
I WANTED TO SHARE THE
INFORMATION HOW TO REGISTER AND
WE HAVE A LIST SERVE ON STUDIES
AND YOU CAN CALL US ANYTIME.
LAST YEAR WE PUT TOGETHER OUR
FIRST HEALTHY VOLUNTEER REGISTRY
ONLINE.
YOU DON'T HAVE TO CALL.
IT'S BEEN SUCCESSFUL TO HAVE
PEOPLE GO ONLINE AND REGISTER
THEMSELVES AND WE CONTACT THEM
IF WE HAVE QUESTIONS BUT IT'S
BEEN VERY USEFUL.
I DID WANT TO PUT THAT
INFORMATION OUT.
COMPENSATION MAY BE PROVIDED FOR
SOME STUDIES IF YOU CHOOSE TO
BECOME A HEALTHY VOLUNTEER.
I ALSO WANTED TO PUT THE
INFORMATION OUT HOW TO FIND US.
WE'RE RECENTLY ON INSTAGRAM AS
OF APRIL THIS YEAR WILL BE A
YEAR.
WE'RE ON FACEBOOK AND TWITTER.
WE'RE TRYING TO STAY SOCIALLY
CONNECTED AND BE INVOLVED AND
MEET PEOPLE WHERE THEY ARE.
WE KNOW NOT EVERYONE WILL BE ON
EVERY PLATFORM BUT WE WANT TO
TAKE THE OPPORTUNITY TO GAUGE
DIFFERENT AUDIENCES AND MEET
THEM WHERE THEY ARE SO WE CAN
STAY INVOLVED WITH THE
COMMUNITY.
I WANTED TO SHARE PICTURES OF MY
TEAM BEFORE THE PANDEMIC WE WERE
EVERYWHERE.
WE ARE WANTING TO GET BACK TO
BEING EVERYWHERE.
IF YOU'RE AWARE OF AN
ORGANIZATION OR EVENT YOU THINK
WOULD BE GOOD FOR US TO GET OUR
FEET ON THE GROUND, LET US KNOW.
WE'RE LOOKING FOR THOSE TYPES OF
EVENTS NOW AND HOPEFULLY THINGS
HAVE CALMED DOWN WIN COVID.
-- WITH COVID.
WE'RE A TEAM AND HERE TO HELP
YOU PROVIDE RESOURCES.
I TELL MY TEAM, WHEN PEOPLE CALL
US WE DON'T WANT TO LEAVE THEM
EMPTY HANDED.
WE WANT TO GIVE THEM SOMETHING,
SOME BIT OF HOPE WHEN THEY REACH
OUT TO OUR OFFICE.
E-MAIL US, WRITE US ON SOCIAL
MEDIA WE'LL RESPOND TO YOUR
COMMENTS.
WE DON'T DELETE THEM.
WE'LL RESPOND AND READ THEM AND
SHARE THEM AND COLLABORATE
TOGETHER WITH OUR OTHER
COLLEAGUES AT NIH.
THANK YOU SO MUCH FOR YOUR TIME.
IF YOU DON'T HAVE A QUESTION
RIGHT NOW THAT'S FINE.
SHE HAS A BOOTH.
WE'RE PLEASED TO SHARE ALL THE
RESOURCES ON CLINICAL TRIALS
FROM THE NIH CLINICAL CENTER.
NOW WE'RE GOING TO JUMP INTO THE
RESOURCES THAT THE CHILDREN'S
INN OFFERS FOR PATIENTS AND
FAMILIES.
AISHA CAMPBELL IS THE DIRECTOR
OF RESIDENT SERVICES AND FAMILY
PROGRAMMING AT THE INN.
THANK YOU.
>> HELLO, EVERYONE.
AS MENTIONED I AM AISHA CAMPBELL
DIRECTOR OF RESIDENT SERVICES
AND FAMILY PROGRAMS AT THE
CHILDREN'S INN.
WHAT THAT MEANS IS MYSELF AND MY
TEAM ARE THE PEOPLE, TEAMS, THAT
DIRECTLY INTERACT WITH THE
MEDICAL TEAMS BUT ALSO THE
FAMILIES.
A LITTLE BIT ABOUT THE INN.
THE CHILDREN'S INN WAS
ESTABLISHED IN 1990.
IT IS THE PRIVATE NON-PROFIT
RESIDENCE FOR SERIOUSLY ILL
CHILDREN, TEAMS, YOUNG ADULTS
AND THEIR FAMILIES PARTICIPATING
IN CLINICAL RESEARCH STUDIES AT
THE NIH.
THE INN HAS A UNIQUE
PUBLIC-PRIVATE PARTNERSHIP WHILE
WE'RE ON THE FEDERALLY FUNDED
CAMPUS OF THE NIH WE'RE A
PRIVATE-NONPROFIT.
WE RELY SOLELY ON CONTRIBUTION.
NO MEDICAL TREATMENTS OCCUR AT
THE CHILDREN'S INN.
ALL OF THE APPOINTMENTS ARE AT
THE CLINICAL CENTER.
OUR MISSION IS TO MEET THE NEEDS
OF CHILDREN'S AND FAMILY
PARTICIPATING IN GROUNDBREAKING
RESEARCH AT THE NIH.
WE STRIVE TO ONE, RESPOND TO
EVOLVING FAMILY SUPPORT NEEDS
FOR PEDIATRIC RESEARCH AND
CLINICAL CARE.
TWO, PROVIDE A FREE
FAMILY-CENTERED PLACE LIKE HOME.
IF YOU'RE SAYING WITH US AT THE
CHILDREN'S INN IT'S AT NO COST.
EVERYTHING PROVIDED TO YOU IS
FREE OF CHARGE.
THREE, REDUCE THE BURDEN OF
ILLNESS THROUGH THERAPEUTIC
HEALTH AND WELLNESS AND
RECREATIONAL PROGRAMS.
SINCE OPENING OUR DOORS IN 1990,
THE CHILDREN'S INN HAS SERVED
OVER 16,000 PATIENTS AND
FAMILIES.
IT REACHES 160 COUNTRIES AND
FROM 2022 TO 2023 CHILDREN'S,
TEENS AND YOUNG ADULTS 0 TO 29
HAVE PARTICIPATED IN CLOSE TO
500 CLINICAL RESEARCH STUDIES
REPRESENTING ADVANCES IN CANCER,
BONE AND GROWTH DISORDERS,
ILLNESS AND GENETIC CONDITIONS
AND OTHER SERIOUS HEALTH ISSUES.
RESIDENTS AT THE INN ARE TREATED
AT 14 OF THE 27 RESEARCH
INSTITUTES AND CENTERS HERE AT
TO THE NIH WITH 60 FAMILY
BEDROOMS, THREE COMMUNITY
APARTMENTS AND MULTIPLE PROGRAM
SPACE.
WE OPERATE 24 HOURS A DAY, 365
DAYS A YEAR.
TO STAY AT THE CHILDREN'S INN
YOU HAVE TO BE PARTICIPATING IN
A PEDIATRIC CLINICAL TRIAL, BE
BETWEEN THE AGES OF BIRTH AND
YOUR 30th BIRTHDAY BUT ALSO YOUR
MEDICAL TEAM HAS TO MAKE YOUR
FIRST APPOINTMENT.
APPOINTMENTS AFTER THAT CAN BE
MADE BY THE FAMILY.
WITH WORKING TO REDUCE THE
BURDEN OF ILLNESS THROUGH A
SUPPORTIVE ENVIRONMENT, WE OFFER
FAMILIES FINANCIAL SUPPORT IN
THE FORM OF AN EMERGENCY FUND
FOR PAST-DUE BILLS, A
SCHOLARSHIP PROGRAM TO SUPPORT
CHILDREN'S EDUCATIONAL
THERAPEUTIC NEEDS AT HOME.
AS FAR AS ACTIVITIES WE OFFER
S.T.E.M. BASED ACTIVITIES,
TUTORING SERVICES AND LIFE SKILL
LESSONS AND NUTRITION AND
EXERCISE CLASSES AND AC YOU
PRESSURE AND PROVIDE
COMPLIMENTARY MEALS EACH DAY TO
EASE THE FLOW OF THE DAY DUE TO
THEIR APPOINTMENTS AND PROVIDE
THE CONVENIENCE OF ARRIVING TO
WHAT WE CONSIDER AS THEIR HOME
TO A PREPARED MEAL.
AS FAR AS FIELD TRIPS WE TAKE
FAMILIES TO D.C., BOWLING,
KARAOKE AND MOVIE TRIPS.
ONE THING ABOUT THE CHILDREN'S
INN, ONE, WE BELIEVE IN
COMMUNITY AND WANT IT TO BE A
FULFILLING EXPERIENCE FOR THE
FAMILY.
WHAT WE CONSIDER THE CHILDREN'S
INN, FAMILIES HAVE CONSIDERED US
AS GREAT AS DISNEY WORLD, WHICH
IS A PLUS AND ALSO WE LIKE TO
THINK WE'RE MEETING ALL THE
NEEDS OF THE FAMILIES AS SOON AS
THEY WALK THROUGH THE DOOR.
SO STRIVING FOR THAT IS LIKE
PERFECTION FOR US AND WE PROVIDE
TRANSPORTATION FOR FAMILIES, TO
AND FROM THE AIRPORT AND A LIMO
AWAITS AT THE DESIGNATED TRAVEL
TIME AND THE DRIVER TRACKS THE
FLIGHT FOR DELAYS.
THIS IS A SERVICE FAMILIES USED
BASED ON THE FACT THE SERVICES
CATER TO THEIR TRANSPORTATION
NEEDS AND SCHEDULE PLUS SOMEONE
HOLDS A SIGN AS YOU ARRIVE LIKE
YOU'RE A CELEBRITY SO THAT'S A
PLUS.
HERE'S A FEW OF OUR SPACES.
THE PLAY ROOM IS ON THE TOP LEFT
AND GAME ROOM ON THE RIGHT WITH
GAMES WHERE YOU CAN FIND MOST
TEENS AND ADULTS AND ON THE LEFT
IS BISTRO ACTIVITIES AND THE
LOWER RIGHT IS THE LOUNGE.
WE'RE CALLED THE CHILDREN'S INN
AND THIS IS WHERE TEENS AND
ADULTS CAN HAVE PRIVACY
ESPECIALLY IF A LOT OF CHILDREN
ARE IN HOUSE.
HERE'S ADDITIONAL SPACES.
THE TOP LEFT IS OUR ART GALLERY
HALLWAY WE HAVE ARTWORK
COMPLETED BY OUR FAMILIES AND
TOP RIGHT IS OUR BOOK NOOK OR
ALL AGES THROUGHOUT OUR SPACES.
OUR SPORT COURT ON THE LOWER
LEFT WITH DIFFERENT SPORTING
EQUIPMENT FOR FAMILIES TO ENJOY
AND OUR COMPUTER ROOM ON THE
LOWER RIGHT WHERE FAMILIES CAN
SURF THE NET, MOST TEENAGERS
WATCH YOUTUBE AND THESE SPACES
ARE SPECIAL TO US AND THE
FAMILIES BECAUSE THEY ALLOW FOR
THEM TO BE WHICH IS REALLY NICE.
FEEL FREE TO REACHOUS TO --
REACH OUT TO ME FOR ADDITIONAL
QUESTIONS YOU HAVE ABOUT THE
CHILDREN'S INN OR QUESTIONS YOU
MAY HAVE.
THANK YOU.
>> SO THANK YOU FOR ALL YOUR
WORK AND ALL THE WORK ON
RECRUITING.
MY COMMENT IS FOR COLLEAGUES AT
THE NIH.
AND MEREDITH MANNING I'M WITH A
MANUFACTURER.
WE HAVE A HUGE ISSUE WITH
CLINICAL TRIALS POST THE
PANDEMIC.
MANY EPIDEMIC CENTERS DON'T HAVE
THE STAFF TO RUN THE CLINICAL
TRIAL.
WE WORK WITH RARE BLOOD CANCER
AND IT'S TAKING SIX MONTHS TO A
YEAR TO GET CLINICAL TRIALS UP
AND RUNNING AND OUR PATIENTS
DON'T HAVE TIME TO WAIT THAT
LONG.
I DON'T KNOW IF THERE ARE ANY
ADDITIONAL RESOURCES BUT IT
SEEMS LIKE THERE'S A LOT OF NEED
TO HELP RECRUIT PEOPLE TO GO RUN
THE CLINICAL TRIALS AND HELP
THEM GET UP AND RUNNING AND
TRAINED.
DON'T KNOW IF THERE'S ANY
INITIATIVES BUT I THINK IT'S A
HUGE ISSUE THAT WE HAVE ACROSS
MANY THERAPEUTIC AREAS AND
DISEASE STATES.
THANK YOU.
>> WOULD YOU MENTION THE WISH
LIST THE CHILDREN'S INN HAS ON
AMAZON.com, PLEASE.
>> THANK YOU.
WE DO OPERATE A WISH LIST.
I CAN SEND THE LINK TO THE STAFF
HERE OR YOU CAN GO TO OUR
WEBSITE AND I THINK IT'S GETTING
INVOLVED IS THE TAB AND YOU
CLICK ON THAT AND YOU'LL SEE
WISH LIST.
WE DEFINITELY KEEP IT UPDATED
BECAUSE WE HAVE VERY OPINIONATED
TEENS AND YOUNG ADULTS.
THEY KNOW WHAT THEY WANT.
IF YOU'D LIKE TO SUPPORT THE INN
YOU CAN DO THAT AND YOU CAN ALSO
CALL US.
ANY OTHER QUESTIONS ABOUT THIS
WONDERFUL PLACE?
OKAY.
THANK YOU, EVERYONE.
>> THANKS EVERYONE.
WE MADE IT TO OUR FIRST BREAK.
WE WANT TO THANK ALL THE SPEAKER
WE HEARD FROM THIS MORNING.
PLEASE BE BACK FROM THE BREAK AT
11:40.
>> IT IS PAST 11:40 SO WE'RE
GOING TO MOVED AHEAD IS NEXT IS
SESSION 2, MEETING THE NEEDS AND
ADOLESCENTS OF YOUNG ADULT AND
YOU'LL HEAR THE ACRONYM AYA.
THE MODERATOR IS ABBEY SANDLER
OF THE MY PEDIATRIC AND ADULT
RARE TUMOR NETWORK AND SITS
WITHIN THE INTRAMURAL BRANCH AT
THE NATIONAL CANCER INSTITUTE
WITH NIH.
WELCOME.
>> GOOD MORNING I'D LIKE TO ECHO
THE SENTIMENTS OF MANY SPEAKERS
BEFORE AND HOW GREAT TO BE BACK
IN PERSON AND HAVING SO MANY
PEOPLE PARTICIPATE ONLINE AS
WELL.
WELCOME TO THE SECOND SESSION OF
RARE DISEASE DAY.
I WANT TO THANK THE ORGANIZERS
FOR ALLOWING US TO HOLD THIS
SESSION ON AYAs, ADOLESCENT AND
AYOUNG ADULT.
I HAVE THE PRIVILEGE AND
OPPORTUNITY TO WORK WITH BOTH
RESEARCHERS AND ADVOCACY
ORGANIZATIONS TOWARD OUR SHARED
GOALS OF IMPROVING THE
EXPERIENCE FOR THOSE FACING RARE
CANCERS.
I'M ALSO TO BE PROUD AS MY ROLE
OF A MOTHER OF A CHILD THAT GOT
DIAGNOSED WITH A RARE CANCER AND
JUST FINISHED TREATMENT.
AYAs WITH CANCER ARE A SPECIAL
POPULATION WITH UNIQUE NEEDS.
I HOPE YOU'LL SEE MANY OF THOSE
UNIQUE NEEDS OUR PANELISTS WILL
TELL YOU ABOUT PROGRAMS OR
RESOURCES THEY CREATED FOR AYAs.
AFTER THE SHORT TALKS WE'LL HAVE
A SHORT DISCUSSION AND HAVE TIME
FOR A FEW QUESTIONS FROM THE
AUDIENCE.
THE FIRST SPEAKER FOR THE
MORNING SPEAKER IS HILARY GAN
FOR TEEN CANCER AMERICA.
SHE'S JOINING US REMOTELY SO
THROUGH THE MAGIC OF AV THEY'LL
BRING HER UP AND I'LL TURN IT
OVER FOR HER REMARKS.
>> THANKS, ABBEY.
HELLO, EVERYBODY.
IT'S A PLEASURE TO BE HERE WITH
YOU.
I WISH I WOULD I WAS THERE IN
PERSON BUT I'M NOT HERE.
I'M HERE IN LOS ANGELES,
CALIFORNIA.
SO THIS MORNING I WANTED TO
SHARE A LITTLE BIT WITH THE
ADOLESCENT AND YOUNG ADULT
POPULATION COMMONLY REFERRED TO
AS AYA AND THE CHALLENGES THAT
FACE YOUNG PEOPLE GOING THROUGH
TREATMENT.
I'LL ALSO BRIEFLY TOUCH ON HOW
HEALTH CARE SYSTEMS CAN CHANGE
TO BETTER MEET THE NEEDS OF THIS
GROUP AND HOW TEEN CANCER
AMERICA HELPS HOSPITALS DO THAT.
>> APOLOGIES, HILARY, CAN YOU
START YOUR VIDEO, PLEASE.
AND YOU'RE MUTED.
>> ALL RIGHT.
HELLO.
IT'S A PLEASURE TO BE HERE WITH
YOU.
TODAY I WANTED TO SHARE WITH YOU
ABOUT THE ADOLESCENT AND YOUNG
ADULT CANCER POPULATION COMMONLY
REFERRED TO AS ABBEY SAID AS AYA
AND THE CHALLENGES THEY FACE AS
YOUNG PEOPLE GOING THROUGH
TREATMENT.
I'M ALSO GOING TO BRIEFLY TOUCH
UPON HOW HEALTH SYSTEMS CAN
CHANGE TO BETTER MEET THE NEEDS
OF THIS GROUP AND HOW CANCER
AMERICA WORKS WITH THE
POPULATION AND MY FOCUS WILL BE
ON YOUNG PEOPLE WITH CANCER I
KNOW SOME CHALLENGES I MENTION
WILL RESONATE WITH THOSE WHO
DON'T HAVE CANCER BUT OTHER RARE
DISEASES.
SO PERHAPS THINK OF THIS AS A
MODEL FOR WHAT ALL YOUNG PEOPLE
DESERVE FROM THE HEALTH CARE
SYSTEM.
SO WHO ARE AYA CANCER PATIENTS
AND WHY ARE THEY UNIQUE?
AYA CANCER PATIENT IS DIAGNOSED
BETWEEN 15 AND 39 YEARS OLD.
THERE'S ALMOST 90,000 NEW
DIAGNOSES OF AYA PER YEAR.
UP UNTIL THE PAST YEARS THIS AGE
GROUP HAD NOT SEEN IN
IMPROVEMENT IN THEIR SURVIVAL AS
OLDER AND YOUNGER PATIENTS IN
ALMOST 30 YEARS.
LUCKILY THAT IS CHANGING.
CURRENTLY, AYAs DON'T FIT IN THE
HEALTH SYSTEM AS IT EXISTS AND
IT'S BROKEN DOWN TO TWO MAIN
GROUPS, CHILDREN AND YOUNG
ADULTS.
AYAs ARE IN THE STATE OF
TRANSITION AND CHANGE AND MOVING
FROM ADULTHOOD TO CHILDHOOD.
WHEN DIAGNOSED WITH CANCER THE
ATTENTION IS SHIFT FROM MORE
TYPICAL THOUGHTS LIKE WHERE WILL
I GO TO COLLEGE OR WHAT AM I
DOING FOR HIGH SCHOOL
GRADUATION, CAREER, FRIENDSHIPS
AND ROMANTIC RELATIONSHIPS AND
FORCED TO THINK ABOUT THINGS
LIKE TREATMENT AND MORTALITY AND
SURVIVAL.
70% OF THE AYA POPULATION DON'T
GO TO LARGE ACADEMIC HOSPITALS
INITIALLY.
MORE ON OFTEN THEY DO TO
COMMUNITY HOSPITALS BECAUSE
ACCESS TO HEALTH CARE IS OFTEN
INSURANCE DRIVEN SO PEOPLE CAN'T
ALWAYS PICK WHERE THEY'RE
TREATED AND SOMETIMES CAN'T EVEN
DECIDE WHAT SERVICES THEY HAVE
ACCESS TO.
OR CAN AFFORCE.
IN THE U.S., PEOPLE LOSE ACCESS
TO THEIR PARENTS' HEALTH
INSURANCE AT 26 YEARS OLD AND
HAVE TO START OVER.
FOR MANY WHO HAVE GONE THROUGH
TREATMENT, LONG-TERM SIDE
EFFECTS CAN IMPACT THEIR
PHYSICAL, SOCIAL AND EMOTIONAL
WELL BEING.
DISPARITIES IN HEALTH CARE SUCH
AS PROXIMITY TO A HOSPITAL,
RACIAL, SOCIO ECONOMIC STATUS
AND NEED FOR FERTILITY CARE,
GENDER IDENTITY, LIMITED ACCESS
TO CLINICAL TRIALS AND SO MUCH
MORE INCREASE THE CHALLENGES
FACED BY YOUNG PEOPLE AND EVEN
IMPACT THEIR OUTCOMES.
TO ENSURE ALL AYAs ARE GETTING
WHAT IS NEEDED, THERE ARE EIGHT
PILLARS OF AYA CANCER CARE WE
LIKE TO SEE ALL PROGRAMS
CONSIDER.
AGE-APPROPRIATE CLINICAL CARE
AND ENVIRONMENT, CLINICAL TRIALS
IN RESEARCH, FERTILITY
COUNSELLING, PRESERVATION,
SEXUAL HEALTH, HEALTH INSURANCE,
FINANCIAL COUNSELLING, EDUCATION
AND OCCUPATIONAL SUPPORT,
PSYCHOSOCIAL SUPPORT,
SURVIVORSHIP, TRANSITIONAL CARE
AND PALLIATIVE AND END OF LIFE
CARE.
TO BETTER SERVE THIS POPULATION,
TEEN CANCER AMERICA IS HELPING
HOSPITALS CREATE SPECIALIZED
PROGRAMS JUST FOR THE AYA CANCER
POPULATION.
AND AS YOU CAN SEE FROM THE
SLIDE, TCA HAS CREATED A PATHWAY
FOR PATIENTS AS THEY ENTER
THEIAC SYSTEM.
-- THE HEALTH CARE SYSTEM TO
ENSURE AYAs HAVE EQUITABLE
ACCESS TO CANCER CARE NO MATTER
KIND OF HOSPITAL YOU'RE TREATED
AT AND WHAT DOOR YOU ENTER,
PEDIATRIC OR ADULT SIDE.
TCA WANTS TO SEE THAT ALL THE
PILLARS LISTED FROM THE PREVIOUS
SLIDE ARE REGULARLY ADDRESSED
THROUGHOUT TREATMENT.
AND TCA IS WORKING TO HELP BUILD
COMMUNICATION BETWEEN PEDIATRIC
AND ADULT TEAMS TO ENSURE THE
SHARING OF KNOWLEDGE AND
EXPERTISE IS ROBUST.
PATIENTS DON'T OFTEN KNOW WHAT
TO ASK NOR WHAT TO EXPECT FROM
THEIR CANCER EXPERIENCE.
IT'S THE HEALTH CARE
PROFESSIONAL'S JOB TO GUIDE THEM
AND BE HONEST AND COMMUNICATE
CLEARLY.
WE MUST PROVIDE PATIENTS WITH
THE EDUCATION AND SERVICES THEY
ALL DESERVE.
AS WE LIKE TO SAY AT TEEN CANCER
AMERICA, IT IS THE PERSON THAT
COMES FIRST.
AND THE DISEASE THAT COMES
SECOND.
PLEASE KNOW THAT CHANGE IS HARD
AND SLOW PARTICULARLY IN A
HEALTH CARE SYSTEM.
AND HOSPITALS CAN'T DO
EVERYTHING WHICH IS OKAY.
BECAUSE THERE ARE MANY GREAT
REGIONAL AND NATIONAL
ORGANIZATIONS OUT THERE TO
PROVIDE ADDITIONAL RESOURCES.
THANK YOU.
>> THANK YOU, HILARY FOR YOUR
COMMENTS.
OUR NEXT SPEAKER IS GOING TO BE
ALISON SILBERMAN FROM STUPID
CANCER.
WELCOME.
>> GOOD MORNING.
I'M ALISON SILBERMAN THE CEO OF
STUPID CANCER.
I WANT TO THANK NIH FOR HAVING
US HERE AND FOCUSSING ON THE
UNDER SERVED AND INCREDIBLE
COMMUNITY OF AYAs.
STUPID CANCER IS A NATIONAL
NONPROFIT WHO IS MISSION IS TO
HELP EVERYONE BY ENDING
ISOLATION AND BUILDING
COMMUNITY.
WE WERE FOUNDED IN 2007 BY AN
AYA BRAIN CANCER SURVIVOR.
AT THE AGE OF 21 WHILE MATT WAS
GOING THROUGH HIS TREATMENT HE
NOTICED THAT THERE WERE NO
PROGRAMS FOR AYAs.
HE LIKE MANY AYAs FELL INTO THIS
PURGATORY.
A SPACE WHERE HE WASN'T AN ADULT
OR PEDIATRIC AND LEFT IN THE
MIDDLE NOT FITTING IN.
THE SYSTEM FAILED TO UNE
RECOGNIZE THIS STAGE OF LIFE AND
STUPID CANCER STARTED AS A
YOUTUBE SHOW AND PODCAST
BRINGING TOGETHER THE VOICES OF
INNOVATORS IN THE HEALTH CARE
SPACE, PHARMA PROVIDERS,
PATIENTS AND ELEVATING THE VOICE
OF THIS UNDER SERVED POPULATION.
OVER THE PAST 15 YEARS WE'VE
GROWN THROUGH OUR AWARD-WINNING
AND EVIDENCE-BASED PROGRAMS TO
CHANGE THE LANDSCAPE OF AYA
CARE.
STUPID CANCER FOL THE DEFINITION
OF AYAs 15 TO 39-YEAR-OLDS AND
OF THE NEARLY 90,000 PATIENTS
DIAGNOSED EVERY YEAR ADD THOSE
LIVING WITH METASTATIC DISEASE,
THOSE LIVING INTO SURVIVORSHIP
AND MULTIPLY THAT BY THE FRIENDS
AND FAMILIES PART OF THEIR LIVES
TAKING CARE OF THEM.
WE'RE TALKING ABOUT MILLIONS OF
PEOPLE.
SIMILARLY TO THE RARE DISEASE
DISEASE IT ISN'T JUST ABOUT THE
PATIENT BUT EVERYBODY INVOLVED.
WHEN WE TALK ABOUT PATIENTS WITH
RARE DISEASE WE'RE TALKING ABOUT
THE SAME THING WITH AYAs AND
DON'T SEE THEMSELVES IN
MARKETING OR IN THE WAITING
ROOMS.
THEY NEED A.J. SPECIFIC TARGETED
SUPPORT TO ADDRESS THEIR UNIQUE
CHALLENGES.
THE LIST HILARY HAD UP ON THE
SCREEN.
I WANT TO ADDRESS THE NEED.
MANY FEEL LOST WHEN OUT OF THE
CARE OF THEIR ONCOLOGIST AND
DEAL WITH ANXIETY OR FALLOUT
FROM TREATMENT WHETHER IT'S
MENTAL HEALTH ISSUES, FINANCES
OR GETTING BACK IN THEIR CAREERS
AND EDUCATION.
IT'S IMPORTANT TO INCLUDE THESE
CAREGIVERS AND FRIENDS.
STRONG SUPPORT NETWORK EQUALS
SUCCESS.
THAT MEANS CARING FOR EVERYBODY
INVOLVED.
SO STUPID CANCER HAS A VERY
DIVERSE COMMUNITY.
WE ARE 65% AYAs.
WE ALSO ARE CAREGIVERS AND
PROVIDERS AND LOVED ONE AND 70%
LGBTQ AND BIPOC AND SLOWLY
REACHING THE UNDER SERVED.
WE'RE REACHING COMMUNITY MEMBERS
THROUGH SOCIAL MEDIA.
WE HAVE OVER 400,000 FOLLOWERS
ACROSS OUR PLATFORMS AND IT'S A
GREAT WAY TO SHARE INFORMATION
AND CONNECT.
WE HAVE ROBUST ATTENDANCE ACROSS
OUR PROGRAMS WHICH IS IMPORTANT
BECAUSE WE NEED TO GIVE THEM
LOTS OF DIFFERENT WAYS OF
INTERACTING WITH US.
VERY QUICKLY WE'LL SHARE SOME OF
THOSE PROGRAMS TO GIVE YOU AN
IDEA OF THE DIFFERENT WAYS WE
TRY AND LET PEOPLE KNOW ABOUT
THE RESOURCES THAT WE HAVE AND
THE EDUCATION THAT'S IMPORTANT
TO THEM.
OUR FIRST OF COURSE IS OUR
FLAGSHIP PROGRAM AND WE BRING
TOGETHER HUNDREDS OF MEMBERS OF
THE AYA COMMUNITY TO LEARN,
SHARE AND CONNECT.
OUR STUPID CANCER MEETUPS ARE A
SPACE FOR THE COMMUNITY CAN COME
TOGETHER IN A CASUAL SETTING,
HAVE FUN, HAVE THOSE HEAVY
CONVERSATIONS BUT ALSO HAVE A
LOT OF LAUGHS.
THE SUCCESS IN THE PROGRAM IS WE
CAN CREATE A SAFE SPACE WHERE
EVERYONE IS WELCOME WITH LOW
BARRIERS TO ENTRY.
THEY CAN JOIN ONLINE OR IN
PERSON AND HAVE TOPIC SPECIFIC
MEETUPS AND QUELL ANXIETY ABOUT
TALKING UP TO STRANGERS.
OUR HEALTH DISPARITY TOWN HALL
IS A STRATEGIC INITIATIVE WHERE
WE ARE DEVELOPING AN ACTION PLAN
TO ADDRESS THE NEEDS OF AYAs IN
HISTORICALLY MARGINALIZED
COMMUNITIES.
WE'VE BEEN SUCCESSFUL WITH THE
PROGRAM BECAUSE IT'S BEEN
COMMUNITY DRIVEN.
THE COMMUNITY HAS COME TOGETHER
IN WORKSHOPS AND FOCUS GROUPS TO
IDENTIFY PROBLEMS ACROSS
AUDIENCE TYPES WHETHER IT'S
PROVIDERS, NON-PROFIT SUPPORT,
OTHER PATIENT CAREGIVERS AND
DEVELOP THOSE CORRESPONDING
SOLUTIONS.
OUR STUPID CANCER STORIES ALLOWS
MEMBERS OF OUR COMMUNITY TO
SHARE THEIR EXPERIENCES AND
CONNECT THROUGH THE POWER OF
STORY TELLING.
AND YOU CAN READ ABOUT OTHERS'
EXPERIENCES AND CONTRIBUTE THEIR
OWN STORIES AND WRITING OR VIDEO
OR A LIVE OPEN MIC BUT ALLOWS
PEOPLE TO INTERACT AND ENGAGE IN
WAYS THAT ARE MEANINGFUL TO THEM
AND ALWAYS ENDS IN CONNECTION.
FINALLY OUR LEARN AND SHARE
SESSIONS.
THESE ARE EDUCATION-BASED
SESSIONS AND OUR DISCUSSIONS
ALLOW PARTICIPANTS TO GAIN
INFORMATION AND FACILITATE IN A
SETTING FROM EXPERTS AND OF
COURSE WE HAVE OUR WEBINARS THAT
ARE LED BY EXPERTS AND
EVERYTHING'S CATALOGED ON OUR
WEBSITE AND ALWAYS ACCESSIBLE
WHEN NEEDED.
THE SUCCESS IN THESE PROGRAMS
HAS BEEN WE'RE ACTIVELY TARGETED
MEANINGFUL INFORMATION AND
STAYING ON TOP OF WHAT IS MOST
IMPORTANT TO AYAs TODAY.
SO WHAT I'M HOPING TO SHARE IN
THIS QUICK CHAT SOMETHING I'M
SURE YOU ALL KNOW, IT DOESN'T
END ONCE YOU LEAVE THE HOSPITAL.
ISOLATION CAN BE CRIPPLING AND
AFFECT ADHERENCE TO TREATMENT OR
MENTAL IMPACT AND BY PROVIDING
AGE-SPECIFIC RESOURCE TO MEET
THE NEEDS OF THE PATIENT NO
MATTER HOW UNIQUE CAN HAVE
LASTING POSITIVE IMPACTS ON OUR
PATIENT SURVIVORSHIP.
WHEN WE'RE TALKING ABOUT AYAs
WE'RE TALKING ABOUT A LONG RUN
LINE.
I'LL LEAVE YOU WITH A FEW QUOTES
FROM OUR COMMUNITY THAT CAN SAY
BETTER THAN I CAN HOW IMPORTANT
IT IS TO HAVE THE CONNECTIONS
AND SAFE SPACES TO MEET AND
CONNECT.
>> THANKS, ALLISON.
OUR LAST SPEAKER FOR THIS
MORNING'S SESSION IS DR. WIENER
THE DIRECTOR OF THE PSYCHOSOCIAL
SUPPORT AND RESEARCH PROGRAM AND
CO-DIRECTOR OF THE BEHAVIORAL
HEALTH CORPS IN THE NATIONAL
CANCER INSTITUTE PEDIATRIC
ONCOLOGY BRANCH HERE ON THE NIA
CAMPUS.
THANK YOU FOR BEING HERE WITH US
TODAY.
I WISH I WAS HERE TALKING ABOUT
NEW CURE AND WE KNOW THE CURE
ISN'T ALWAYS POSSIBLE.
DISCUSSING END OF LIFE CARE IS
ONE OF THE MOST DIFFICULT
ASPECTS AND YET WE KNOW THE
MAJORITY OF THE FAMILIES WANT TO
HAVE CONVERSATIONS WITH THEIR
CHILDREN ABOUT PREFERENCE FOR
CARE AND HOW THEY WANT TO BE
SUPPORTED AND COMFORTED AND QUA
IF TREATMENT DOESN'T WORK.
THE ACADEMY OF PEDIATRICS AND
THE WORLD HEALTH ORGANIZATION,
THEY ALL RECOMMEND INVOLVING
YOUTH IN DECISIONS REGARDING
THEIR CARE AS THEY ARE
DEVELOPMENTALLY AND EMOTIONALLY
READY.
WE KNOW ADOLESCENTS AND YOUNG
ADULTS HAVE A LOT OF PREFERENCES
FOR WHAT THEY WANT AND DON'T
WANT AND YET THEY VIEW A LACK OF
INFORMATION GIVEN TO THEM AS A
BARRIER.
AND THERE ARE SO FEW RESOURCES
AVAILABLE TO HELP THEM AT THAT
AGE.
WITH AN ADVANCED CARE PLANNING
GUIDE BE HELPFUL?
WOULD THEY WANT THAT?
WE BEGAN BY LOOKING AT FOCUS
GROUPS AND ASKING YOUTH THAT
QUESTION AND ALL OF THEM THOUGHT
THAT WOULD BE HELPFUL AND TOOK
AN EXISTING DIRECTIVE CALLED
FIVE WISHES DEVELOPED FOR PEOPLE
65 AND OLDER AND EVALUATE THE
CONCEPTS, WOULD YOU LIKE THIS OR
NOT LIKE THAT.
WHAT WOULD YOU LIKE TO HAVE
INCLUDED?
AND THEY HAVE A LOT OF OPINIONS
OF WHAT SHOULD STAY AND BE
INCLUDE AND WE LEARNED WHAT WAS
MISSING.
AND WHAT I WANT AS MY END OF
LIFE IS NEAR AND THE CLOTHES I
WANT TO WEAR AND MY MOM WILL PUT
ON THE BLACK SUIT AND I WANT MY
BASEBALL CAP AND THE FRIENDS AND
FAMILY I WANT TO COME AND NOT
COME AND THE PEOPLE I WANT TO
HAVE MY BELONGS.
HOW I WANT TO BE REMEMBERED TO
KNOW MY LIFE REALLY MATTERED, ON
MY BIRTHDAY AND SPECIAL HOLIDAYS
AND A PLACE I CAN WRITE LETTERS
OR POEMS OR LEAVE THINGS FOR
PEOPLE.
WE TOOK WHAT WE LEARNED FROM THE
FOCUS GROUPS IN THAT EARLY STUDY
AND CREATED A NEW DOCUMENT
CALLED MY THOUGHTS, MY WISHES,
MY VOICE AND ADDRESSED THE
IMPORTANCE OF FAMILY AND PEER
RELATIONSHIPS AND INDEPENDENT
DECISION MAKING AND OPENED IT UP
TO ANOTHER SITE AND HAD PEOPLE
REVIEW DOCUMENTS AND GIVE US
INFORMATION AND WHAT THEY
THOUGHT IT SHOULD LOOK LIKE AND
OPEN-ENDED QUESTIONS, COLORS,
DESIGN, CHECK MARKS AND WHAT WE
LEARNED OVER AND OVER AGAIN IS
THE IMPORTANCE OF IDENTITY,
MEANING, SPIRITUALITY, FAMILY,
FRIENDS, AUTONOMY, CONTROL,
BEING REMEMBERED.
THE KEY DEVELOPMENTAL ISSUES.
SO AGAIN WE WENT BACK TO WHAT WE
HEARD FROM THE FOCUS GROUPS AND
WHAT WE LEARNED FROM THE
DIFFERENT PHASES OF STUDY AND
CREATED A DOCUMENT CALLED
VOICING MY CHOICES.
IT'S A PLACE WHERE THEY CAN SAY
WHAT MAKES YOU FEEL SUPPORTED,
WRITE WHAT DECISIONS BRING YOU
PEACE, A PLACE TO CHOOSE WHAT
PROVIDES YOU THE MOST COMFORT
AND A PLACE TO VOICE YOUR
THOUGHTS AND NEEDS.
WE SIGNED A MATERIAL TRANSFER
AGREEMENT AND WERE SURPRISED BY
HOW PEOPLE PEOPLE -- PEOPLE
MANY PEOPLE WANTED THIS AND
SHOWED UP ON THE FRONT NEWS OF
THE NEW YORK TIMES AND PEOPLE
SAID YOU MUST BE SO GLAD PEOPLE
WANT THIS BUT IT MADE ME
CONCERNED BECAUSE WE NEVER
STUDIED THIS THE WAY WE STUDIED
EARLIER ITERATIONS.
I DIDN'T KNOW DOES THIS HELP IN
COMMUNICATION WITH FAMILY
MEMBERS OR MEDICAL PROVIDERS OR
FRIENDS.
DOES IT INCREASE OR DECREASE
ANXIETY OR HELP ACCEPTANCE OF
ILLNESS AND WE ENTERED THE PHASE
OF THE STUDY TO ANSWER OR THE
QUESTIONS WE STARTED WITH 18 TO
39 WITH CANCER OR CHRONIC
ILLNESS AND RARE CONDITIONS AND
THEY COMPLETED MEASURES FOR THE
DIFFERENT DOMAINS AND COMPLETED
A MINIMUM OF THREE-PAGES ON
THEIR OWN AND FOLLOWED UP A
MONTH LATER AND SAID DID YOU
SHARE THIS WITH ANYONE?
IF THEY DID WE ASKED WHO AND
WHAT IT WAS LIKE FOR THEM AND IF
WE CAN TALK TO THAT PERSON AND
IF THEY DIDN'T WE ASKED WHY NOT
TO UNDERSTAND THE BARRIERS.
WE HAD SEVEN SITES INVOLVED IN
THIS PHASE OF THE STUDY AND HAD
129 PARTICIPANTS WHO REVIEWED
BASELINE AND FOLLOW-UP MEASURES
AND WHAT WE FOUND IS HALF HAD
NEVER HAD A CONVERSATION ABOUT
THEIR PREFERENCES FOR CARE IF
THEY BECAME ILL WITH A FAMILY
MEMBER.
A MONTH LATER, 65% OF THOSE
SHARED THEIR PAGES.
THE MAJORITY, 79% HAD NOT
PREVIOUSLY DISCUSSED THEIR
WISHES WITH THEIR HEALTH CARE
PROVIDER AND UNFORTUNATELY VERY
FEW DID A MONTH LATER.
TO BE FAIR, COMMENTS LIKE THIS I
HAVEN'T HAD AN OPPORTUNITY TO
HAVE THIS CONVERSATION YET.
MORE OFTEN WE HEARD THINGS LIKE
THIS.
I THINK THEY SHOULD RAISE IT
WITH ME NOT THE OTHER WAY
AROUND.
WHAT OFTEN HAPPENS IS THE
PROVIDER FEELS LIKE I'LL
INCREASE THEIR ANXIETY AND THE
FINDING US ANXIETY AROUND END OF
LIFE PLANNING DECREASED AFTER
REVIEWING IT AND A MONTH LATER.
I WAS GLAD OVER 90% OF THE
PEOPLE REPORT THE ITEMS WERE
HELPFUL BUT THEY SUGGESTED
SEVERAL CHANGES.
SO ONE OF THE CHANGES WAS
IMPORTANT AND WE HEARD HOW
IMPORTANT PAIN CONTROL IS AND
THEY WANT THAT UP FRONT.
WERE TWO ITEMS FOR THE KIND OF
LIFE SUPPORT THEY WANT AND DON'T
WANT.
BOTH WERE ABOUT END OF LIFE WAS
GOING TO BE NEAR.
THEY WANTED A HIERARCHY OF
DIFFERENT KINDS OF INTERVENTIONS
TO RELATE TO AND OPTION IF
TREATMENTS WERE AVAILABLE THAT
MAY CURE OR IMPROVE MY DISEASE
OR DISORDER WHAT THEY WOULD
WANT.
AS WELL AS IF THEY WERE
SERIOUSLY ILL OR WANTED
EVERYTHING TO BE DONE BUT
NOTHING WAS WORKING SAY A MONTH
OR TWO LATER TO HAVE A SAY AT
THAT POINT IN TIME.
THEY ALSO WANTED TO BE ABLE TO
KNOW THEIR WISHES WOULD BE NOT
ONLY HONORED BUT THEY WOULD BE
REMEMBERED, SOCIAL MEDIA WAS
VERY IMPORTANT AND PAST WORK WAS
IMPORTANT AND WANTED TO SAY IF I
PARTICIPATED INFERTILITY
PRESERVATION AND UNABLE TO USE
THE WANT AND IF THEY HAD
CHILDREN OF THEIR OWN AND WANTED
A SPECIAL PAGE FOR THAT.
RIGHT NOW WE'RE COMPLETING
ANOTHER PHASE COMPARING THE
ORIGINAL TO THE NEW VERSION SO
STAY TUNED.
THE NEXT FEW MONTHS THERE'LL BE
A NEW VERSION AVAILABLE.
AND WE HAVE AN APPROPRIATE
ADAPTATION.
IN BRAZIL, AUSTRALIA AND
BEIJING.
IN BRAZIL MAYBE THEY DON'T HAVE
A CELEBRATION OF LIFE THAT'S
DIFFERENT AND IN AUSTRALIA
THERE'S A DIFFERENT POPULATION
THE BLUES AND GREENS AND DRAGON
FLIES DIDN'T RESONATE WITH THEM
AND WANTED DIFFERENT COLORS AND
THINGS BAY BUCKET LIST AND IN
BEIJING YOU SEE THE BACKGROUND
OF THE DEER AND IN CHINESE
MYTHOLOGY A DEER IS A GOD, AN
AUSPICIOUS BEAST.
IN SUMMARY, ADOLESCENT AND YOUNG
ADULTS WITH RARE AND SERIOUS
CONDITIONS WANT TO DISCUSS
PREFERENCE FOR CARE IF THEY
BECOME VERY ILL AND FIND BENEFIT
IN DOING SO.
ENGAGING IN ADVANCED CARE
PLANNING IS SHOWN TO HAVE A
DECREASE IN ANXIETY SURROUNDING
END OF LIFE PLANNING AND THEIR
PREFERENCES FOR CARE, HOW THEY
WANT TO BE SUPPORTED IF
TREATMENT IS NOT WORKING.
AND INTERVENTIONS ARE NEEDED AND
EDUCATION IS NEEDED TO ENHANCE
PROVIDER COMFORT BECAUSE THAT'S
WHERE WE FALL SHORT WITH
INITIATING THESE VERY COURAGEOUS
AND IMPORTANT CONVERSATIONS.
THANK YOU.
>> THANK YOU, LORI AND THANK YOU
TO ALL OF OUR SPEAKERS FOR THOSE
POWERFUL PRESENTATIONS.
HILARY'S GOING TO COME BACK AND
JOIN US VIRTUALLY AND WE'RE
GOING TO HAVE A SHORT
DISCUSSION.
WE HAVE ALISON AND LORI AND
MYSELF UP ON STAGE.
WE'LL MOVE OVER TO THE CHAIRS.
A QUICK REMINDER FOR LORI AND
ALLI
ALLISON, YOU HAVE TO SPEAK IN
THE MICROPHONE TO PICK UP FOR
THE ONLINE AUDIENCE.
BEING BEING MINDFUL OF THE TIME
BECAUSE I WANT TO MAKE SURE WE
HAVE TIME SO I'LL ASK YOU TO
KEEP ANSWERS BRIEF OUT I'LL ASK
EACH OF TO YOU ADDRESS
CHALLENGES IN SETTING UP YOUR
PROGRAMS.
WHAT'S THE BIGGEST OBSTACLE YOU
DEAL WITH HOSPITALS IN SETTING
UP THE AYA PROGRAMS?
>> TRYING TO GET EVERYBODY ON
THE SAME PAGE.
MANY HOSPITALS HAVE LOTS OF
DIFFERENT PIECES OF THE PUZZLE
THAT WOULD CONSTITUTE A
COMPREHENSIVE AYA PROGRAM.
IT'S GETTING THE RIGHT PEOPLE IN
THE ROOM FROM REPRESENTATION
FROM PEDIATRIC AND ADULT
ONCOLOGY TO SIT TOGETHER AND
UNDERSTAND WHAT CURRENTLY EXISTS
IN THE HOSPITAL AND WHAT'S
NEEDED TO CREATE AN AYA PROGRAM
AND WORK TOGETHER TO ENSURE THAT
HAPPENS IN THEIR INSTITUTION.
>> ABOUT WHAT ABOUT YOU ALISON?
>> I THINK THE BIGGEST CHALLENGE
WE FIND IS THAT A LOT OF TIMES
AYAs DON'T KNOW AYA'S A THING.
THEY'RE OFTEN FEEL ISOLATED AND
ALONE LIKE THE ONLY ONE GOING
THROUGH WHAT THEY'RE GOING
THROUGH SO IT'S ABOUT GETTING
THE WORD OUT TO PEOPLE WHETHER
IT'S THE PROVIDERS OR PATIENTS
OR CAREGIVERS THAT THERE ARE
AGE-APPROPRIATE RESOURCES
AVAILABLE TO THEM.
THAT AYA IS A THING.
THEY'RE NOT ALONE AND ABOUT THE
COMMUNITY THAT'S OUT THERE.
WE ALWAYS SAY IT'S PROVIDING THE
RESOURCES YOU DIDN'T KNOW YOU
NEEDED.
>> I CAN RELATE TO THAT WITH MY
OWN FAMILY'S EXPERIENCE.
THAT RESONATES.
LORI, EVERYTHING YOU'RE DOING IS
HARD BUT WHAT HAVE YOU GONE
THROUGH IN DEVELOPING MY VOICES?
>> IN TERMS OF DEVELOP PROGRAM I
ECHO EVERYTHING YOU HAD SAID BUT
WHEN THEY'RE IN A HOSPITAL NOW
MOST PATIENTS HAVE THEIR OWN
ROOM, THE DOOR'S CLOSED AND
THEY'RE GETTING THEIR TREATMENT,
THEY MAY BE SLEEPING.
THEY DON'T HAVE AN OPPORTUNITY
TO MEET OTHER PEOPLE.
WHILE THEY'RE THERE WE DON'T
HAVE A SPACE AND HILARY KNOWS
I'VE BEEN WORK ON THIS MANY
YEARS TO HAVE A SPACE FOR AYA TO
BE ABLE TO GO TO BUT IT'S QUITE
A GIFT WHEN YOU DO.
WHEN YOU GET OUT OF THE HOSPITAL
THE LAST THING THEY MAY WANT IS
TO DEAL MORE WITH THE ILLNESS.
THEY WANT TO BE WITH THEIR
FAMILY AND FRIENDS OR JUST BE
ABLE TO FORGET WHAT WAS GOING
ON.
BEING AWARE OF THE DIFFERENCE
RESOURCES KNOWING THERE ARE
OTHER PEOPLE THEY CAN CONNECT
WITH AND KNOWING THEY CAN DO
THINGS THAT ARE NOT HOSPITAL
BASED SOME PROGRAMS AND SOME
TRIPS SOME OTHER ACTIVITIES
GOING ON THAT'S NOT JUST TALKING
ABOUT THEIR ILLNESS, IS
TREMENDOUS.
THAT REALLY DOES HELP BREAK DOWN
BARRIERS.
IN TERMS OF VOICING MY CHOICES,
IF YOU HAVE AN HONEST AUTHENTIC
CONVERSATION THEY GIVE AN HONEST
AND AUTHENTIC RESPONSE BACK.
I HAVEN'T FOUND THAT TO BE A
PROBLEM.
THE PROBLEM IS NO ONE KNOWS THE
RIGHT TIME TO DO THAT.
OFTEN TIME FOR ADOLESCENTING
ADULTS DON'T WANT TO RAISE THE
ISSUES BECAUSE THEY DON'T WANT
THEIR FAMILY TO THINK THEY'RE
HAVING NEGATIVE THOUGHTS.
PARENTS DON'T NECESSARILY WANT
TO RAISE IT WITH THEM BECAUSE
THEY DON'T WANT THEM TO THINK
THEY'RE HAVING NEGATIVE THOUGHTS
AND WIND UP IN ISOLATION AT A
TIME WHEN IT WOULD BRING
TREMENDOUS COMFORT TO KNOW IT'S
A SAFE THING TO TALK ABOUT TO
PAVE THE ROAD SO IF THEY WANTED
TO COME BACK AND HAVE THE
CONVERSATIONS THEY CAN.
BUT DON'T NEED TO.
>> THANKS.
I'LL GO BACK TO WHAT ALISON SAID
ABOUT INCREASING THE KNOWLEDGE
ABOUT THE FACT THAT AYE IS A
THING.
I THINK IT'S FOR ALL RARE
DISEASES.
LET'S MOVE IN A POSITIVE
DIRECTION.
I'LL ASK YOU GUYS WHERE YOU SEE
THE BIGGEST OPPORTUNITIES OVER
THE NEXT FEW YEARS TO HELP
AMPLIFY THE MESSAGE OF AYA BEING
A THING AND WHERE THERE'S
OPPORTUNITIES TO HELP THAT GROW?
>> I SEE ONE OF THE GREATEST
OPPORTUNITIES AND I THINK TCA IS
MAKING GREAT ADVANCES IS THE
COORDINATION OF CARE SPILLING
OUT TO SUPPORT GROUPS LIKE
STUPID CANCER AND BRINGING THAT
THROUGH LINE CLEARER FOR THE
PATIENT.
>> HILARY, DO YOU WANT TO ADD TO
THAT?
>> I THINK IT'S IMPORTANT TO
BRING THE EXPERIENCE THROUGH
TREATMENT FROM THE HOSPITAL OUT
TO THE COMMUNITY AND IT'S SUCH A
GREAT COMMUNITY AND THERE ARE
WONDERFUL ORGANIZATIONS OUT
THERE AND MAKE SURE PEOPLE ARE
KNOWLEDGEABLE AND KNOWING THE
SUPPORT THEY CAN GET FROM
ORGANIZATIONS WILL BE IMPORTANT.
>> AND IT'S HARD WHEN YOU'RE IN
THE POSITION OF GOING THROUGH
TREATMENT AND IT'S AN
OVERWHELMING EXPERIENCE.
AGAIN, YOU DON'T ALWAYS THINK
ABOUT -- I DON'T KNOW WHAT
RESOURCES I NEED.
NOT EVEN SURE WHAT TO LOOK FOR.
LORI WHAT WOULD YOU ADD FOR
OPPORTUNITIES?
>> HAVING AN AYE NAVIGATOR OR
PERSON MEET THEM ON THEIR FIRST
VISIT, LETTING THEM KNOW WHAT
PROGRAMS ARE AVAILABLE AND NOT
ALONE IS HUGELY HELPFUL.
MORE PLACES ARE CONSIDERING
HAVING AYA SPACES SO EVERYONE
AROUND THEM IS GOING TO BE
SOMEBODY THEIR AGE.
SOMEBODY THAT HASN'T COME UP YET
IS ALL THE LEADERSHIP
OPPORTUNITIES.
WHEN YOU HAVE SURVIVED OR GONE
THROUGH TREATMENT OR WHATEVER
SPACE YOU ARE AND HAVE THE
OPPORTUNITY TO MENTOR OR HELP
SOMEBODY ELSE FACING WHAT YOU
WERE FACING MAYBE MONTHS OR
YEARS AGO, THAT'S ALSO A
TREMENDOUS AND QUITE A GIFT.
I THINK YOU'LL HEAR FROM SOME
PEOPLE DOING JUST THAT THE REST
OF THE TODAY.
>> I DON'T KNOW IF THAT'S PART
OF YOUR PROGRAMS WITH SO MANY
SURVIVORS THAT HAVE BEEN THROUGH
IT IF THAT'S A PART OF WHAT YOU
GUYS DO AS WELL.
>> I WOULD AGREE.
HAVING THAT VISION OF WHAT THE
OTHER SIDE LOOKS LIKE CAN BE
INCREDIBLY INSPIRATIONAL FOR
FOLKS.
WE KNOW THERE'S SOME AYAs THAT
WANT TO CLOSE THE DOOR ON CANCER
AND NEVER TALK ABOUT IT
REALISTICALLY OR NOT AND
ENCOURAGE PEOPLE TO USE THEIR
VOICES WHETHER IT'S SHARING
THEIR OWN STORY OR HOLDING
SOMEONE'S HAND OR BEING
AVAILABLE CAN CHANGE THE
TRAJECTORY FOR PEOPLE.
>> AND BEING ON GROUPS.
>> AND ALL HOSPITALS BUILDING
AYA CANCER PROGRAMS HAVE AYAs ON
THE BOARD TO THINK ABOUT WHAT
THE PROGRAM NEEDS AND HOW IT
WILL WORK BECAUSE THEY KNOW THE
EXPERIENCE BEST.
>> THAT'S A GREAT POINT.
WE TALK ABOUT PATIENT-CENTERED
CARE AND IF YOU DON'T ASK THE
PATIENT WILL BENEFIT FROM IT YOU
CAN'T ASSUME TO KNOW WHAT THEY
WANT.
IT'S NOT ONE SIZE FITS ALL.
YOU'LL GET A RANGE OF OPINIONS
BECAUSE EVERYBODY'S COMING AT
THE RARE DISEASE OR RARE CANCER
EXPERIENCE FROM A DIFFERENCE
PLACE.
>> AND TO CONTINUE TO ASK THEM.
WHAT YOU THINK YOU NEED ONE
YOU'RE FIRST DIAGNOSED WITH AN
CONDITION WILL BE DIFFERENT TWO
MONTHS, THREE MONTHS, THREE
YEARS DOWN THE ROAD SO DON'T
ASSUME BECAUSE SOMEONE DIDN'T
WANT TO ENGAGE EARLY ON IS THE
SAME.
CONTINUE TO ASK AND ASSESS AND
CONTINUE TO INVITE.
>> GREAT POINT.
I KNOW WE'RE RUNNING TOWARD THE
END OF THE SESSION AND I WANT TO
SAVE A FEW MINUTES IN CASE
THERE'S QUESTIONS FROM THE
AUDIENCE.
EVEN ONLINE.
>> WE HAVE A QUESTION FROM AN
ONLINE VIEWER.
HOW DO YOU IDENTIFY WHEN IT'S AN
APPROPRIATE TIME TO RAISE A PLAN
FOR CHILDREN AND ADOLESCENTS?
>> IT'S AN INCREDIBLY IMPORTANT
QUESTION.
I BELIEVE IT'S IMPORTANT TO
RAISE THESE ISSUES EARLY ON
WITHIN A FAMILY.
IT'S AN IMPORTANT QUESTION TO BE
ABLE TO HAVE FOR ALL FAMILY
MEMBERS REGARDLESS OF HAVING AN
ILLNESS OR NOT AND TO BE ABLE TO
DO IT IN A WAY THAT BROACHING IT
I HOPE YOU'LL DO WELL AND WE'LL
BE BY YOUR SIDE AND WE'LL
SUPPORT YOU AND HOPE YOU'RE
LIVING A LONG LIFE BUT HAVEN'T
GIVEN THOUGHT TO WHAT'S
IMPORTANT TO YOU IF YOU BECAME
SERIOUSLY ILL DEPENDING ON THE
AGE OF THE PERSON.
I THINK ALSO JUST TALKING TO
SOMEBODY ABOUT WHEN YOU CLOSE
YOUR EYES AT NIGHT AND HAVE
THOSE WHAT-IFs.
WHAT ARE THOSE?
TALKING ABOUT SOMETHING DOESN'T
MAKE IT HAPPEN.
I THINK A LOT OF PEOPLE THINK IF
THEY DO SAY IT OUTLOUD THEN IT
CAN HAPPEN.
TELL ME ABOUT SOME OF THOSE
WHAT-IFs.
SO YOU CAN ADDRESS IT AND THEY
DON'T HAVE TO BE ABLE TO CARRY
THAT WITH THEM AND THEY CAN TAKE
THAT ENERGY AND WORRY AND
ANXIETY AND USE THAT TO GET WELL
AND LIVE THEIR LIFE TO THE
FULLEST.
>> I'M GOING TO COME OVER TO THE
SIDE FOR THE NEXT QUESTION.
>> THANK YOU SO MUCH.
THIS IS SO NEEDED.
IT'S SO GOOD TO HEAR WHAT YOU
GUYS ARE DOING.
ONE OF MY CONCERNS HAS BEEN FOR
A NUMBER OF YEARS THAT I SEE
CHILDREN WITH RARE DISEASES THAT
TAKE ABOUT 6.5 YEARS.
SOME KIDS GOU THROUGH HORRENDOUS
PROBLEMS AND I MENTION THE PAIN
AND THEN YOU HAVE NOW PEOPLE
SAYING WELL, IT'S BECAUSE YOU
HAVE THIS TRAUMA.
YOU HAVE THIS ILLNESS OR THE
PAIN'S BECAUSE OF THIS TRAUMA.
INSTEAD OF RECOGNIZING THIS
TRAUMA IS BECAUSE WE HAVE A
PRETTY BRUTAL HEALTH CARE
SYSTEM.
THERE'S NO NEGATIVITY THERE.
I THANK GOD FOR THE PHYSICIANS
WORKING IN THE SYSTEM.
I'M JUST HIGHLY CONCERNED FOR
OUR YOUTH AND YOUNG ADULTS RIGHT
NOW BECAUSE WHAT A SEE IS SOME
OF THOSE STAYING AWAY AND HAVING
CRISES.
I DON'T WANT TO GO BACK TO A
DOCTOR BECAUSE THEY DON'T LISTEN
OR CARE ABOUT ME AND I SEE
DIAGNOSES LIKE BORDERLINE TRAUMA
AND HOW DO WE BECOME SENSITIVE
SO WE DON'T HAVE KIDS LEAVING
ONCE THEY'RE 18 AND GETTING IN
CRISES AND COMING BACK?
IT'S A VICIOUS CYCLE.
CAN YOU SPEAK TO THAT?
>> TRAUMA-INFORMED CARE.
IT'S SO CRITICALLY IMPORTANT.
AND TO BE ABLE TO HAVE SOMEBODY
THAT'S GOING TO BE WITH YOU
THROUGH THAT JOURNEY TO BE ABLE
TO KNOW SOME OF THE THINGS WE DO
IN A MEDICAL SETTING CAN BE
TRAUMATIZING.
AND TO BE ABLE TO IDENTIFY THAT.
SOMETHING THAT WASN'T ALSO
RAISED EARLIER THE IMPORTANCE OF
PALLIATIVE CARE.
I THINK PEOPLE STILL THINK OF IT
AS BEING HOSPICE CARE BUT
PALLIATIVE PROVIDERS IS ABOUT
DISTRESSING SYMPTOMS INCLUDING
PAIN OR ANXIETY OR SHORTNESS OF
BREATH.
AND WORKING WITH A PALLIATIVE
CARE PROVIDER COULD BE
INSTRUMENTAL TO IMPROVE THE
QUALITY OF YOUR LIFE AND TO BE
ABLE TO HAVE THAT VOICE TO TAKE
YOU THROUGH YOUR CARE TREATMENT
SO THAT IT DOESN'T BECOME
INCREASINGLY TRAUMATIZING YOU
DON'T WANT TO GO BACK TO THE
HOSPITAL.
YOU FEEL LIKE YOU HAVE NOT BEEN
HEARD OR --
>> PHYSICIANS WITH PALLIATIVE
CARE IS HOSPICE CARE.
>> EDUCATION IS NEEDED BUT WE
NEED MORE PALLIATIVE CARE
PROVIDERS AND SEE HOW IMPORTANT
THEY ARE TO BE PART OF THE TEAM
AND BE INTRODUCED NOT AT END OF
LIFE BUT EARLY ON LIKE YOU
INTRODUCE A SOCIAL WORKER OR
PSYCHOLOGIST OR CHILD LIFE
SPECIALIST.
>> A QUESTION FROM THIS SIDE.
>> -- AND COLLABORATING WITH
PEDIATRIC PHYSICIAN CLINICS.
IF YOU HAVE AN ORGANIZATION
INVOLVED IN THIS WE WELCOME YOU
AND CONTINUE THE CONVERSATION
AFTER THIS CONFERENCE.
THANKS.
>> THAT'S FANTASTIC.
>> WHAT ROOM ARE YOU MEETING IN?
>> THE PEDIATRIC CANCER
PREDISPOSITION COALITION.
>> WHAT ROOM?
>> CONFERENCE ROOM F1.
DIRECTLY BEHIND US.
>> GREAT.
FOR THOSE INTERESTED I AM SORRY.
I THINK WE'RE OUT OF TIME WE'LL
HAVE TO MOVE TO THE NEXT SESSION
BUT PLEASE TRY TO CATCH UP WITH
US DURING THE BREAKS TO ANSWER
YOUR QUESTIONS.
>> NO PROBLEM.
JUST SOMETHING TO HAVE YOU THINK
ABOUT.
>> THANK YOU TO OUR WONDERFUL
SPEAKERS AND PANELISTS AND FOR
THE OPPORTUNITY TO SHARE WITH
YOU THIS MORNING.
>> I WANT TO ECHO THANK YOUs AND
MENTION THAT WE ARE CONTINUING
THIS TOPIC FOR ADOLESCENT AND
YOUNG ADULT PATIENTS.
I'M TRYING TO TALK AND NAVIGATE.
I SHOULD PROBABLY FOCUS.
>> NEXT I WANT TO INTRODUCE OUR
FIRST RARE STORY SPEAKER.
HER NAME IS ABBEY HAUSER.
A YOUNG ADULT RARE DISEASE
ADVOCATE AND PATIENT AND THE
TITLE OF HER TALK IS BECOMING
THE CAPTAIN.
MY EXPERIENCE TRANSITIONING FROM
PEDIATRIC TO ADULT HEALTH CARE.
>> HI, MY NAME IS ABBY HOUSER
AND A YOUNG ADULT RARE DISEASE
ADVOCATE.
TODAY I'LL TALK ABOUT MY
TRANSITION INTEREST PEDIATRIC TO
ADULT HEALTH CARE AND I CALL
THIS BECOMING THE CAPTAIN.
MY PRESENTATION TODAY WILL BE A
LITTLE BIT OF A MIX OF MY
PERSONAL STORY, A METAPHOR FOR
THE TRANSITION AND IDEAS HOW TO
IMPACT THESE DECISIONS.
MY FIRST MEMORY OF RARE DISEASE
IS ONE FILLED WITH FEAR AND
UNCERTAINTY.
I WAS 6 YEAR OLD IN THE PHOTOS
AND HOURS PRIOR I HAD JUST
DISLOCATED MY KNEE FOR THE FIRST
TIME WHILE PLAYING WITH TOYS IN
MY BED.
YOU'D THINK THE PAIN WOULD BE
THE FIRST MEMORY I HOLD ON TO
FROM THIS DAY BUT INSTEAD THE
FEAR DOMINATES.
WHEN THIS HAPPENED I WAS HOME
ALONE.
ONCE ONE SECOND I WAS PLAYING,
THE NEXT I SHIFTED MY LEG AND MY
KNEECAP SLID OUT OF PLACE AND I
FROZE FEAR GRIPPING ME.
MY PARENTS, SIBLINGS AND PARENTS
AND NEIGHBORS WERE OUTSIDE AND
HAVING A GARAGE SALE.
I GOT HOT AND ASKED FOR
PERMISSION TO GO INSIDE TO PLAY.
IN THIS SEEMINGLY SIMPLE ACTION
TURNED INTO SOMETHING MORE WHICH
I KNOW IS AN EXPERIENCE MANY
RARE DISEASE PATIENTS AND
FAMILIES HOLD.
I VIVIDLY REMEMBER THIS DAY AND
THIS INTERNAL PEP TALK I GAVE
MYSELF IN THAT MOMENT REMINDING
ME NOT TO PANIC.
USING LANGUAGE I KNOW TODAY I
MUST HAVE BEEN SUBLEXING MY
KNEECAP OR PARTIALLY DISLOCATING
IT MANY TIMES PRIOR TO THE
MOMENT.
I REMEMBER THINKING IF I JUST
STAYED CALM EVENTUALLY IT'D
SHIFT ON AND MOVE ON WITH MY
DAY.
I GOT THAT IDEA FROM A PAST
SITUATION BUT I DIDN'T HAVE THE
LANGUAGE AT 6 YEARS OLD TO
EXPLAIN THIS PHENOMENON
HAPPENING TO MY PARENTS OR
ANYONE ELSE.
THAT DAY THE FEELING DID NOT
PASS AND THE FEELING ONLY
INTENSIFIED.
MY LITTLE KID PEP TALK NO LONGER
WORKED AND I STARTED PANICKING.
I REMEMBER CRYING AND YELLING
FOR HELP BUT NO ONE CAME.
I COULDN'T MOVE AND MY KNEE HURT
IN A WAY ALMOST INDESCRIBABLE IN
WORDS.
I DIDN'T KNOW WHAT WAS HAPPENING
TO ME AND I WAS ALONE.
THUS BEGAN WHAT I CALL MY
OFFICIAL START OF MY RARE
DISEASE JOURNEY.
UNFORTUNATELY IT WOULD NOT BE
THE LAST TIME I FEEL ALONE OR
EXPERIENCE UNCERTAINTY IN THE
DIAGNOSIS.
THAT DAY BACK IN 2002 I WILL
NEVER KNOW HOW LONG I WAS CRYING
FOR HELP FOR BUT EVENTUALLY A
NEIGHBOR WALKED IN AND HEARD ME.
AFTER THAT THEY GATHERED MORE
NEIGHBORS, PARENTS AND FRIENDS
AND MORE PEOPLE WERE INVOLVED IN
GETTING ME INTO THE CAR TO GO TO
THE E.R. IN THE HOSPITAL THAN MY
SHY, LITTLE KID HEART WOULD HAVE
WANTED.
I QUICKLY LEARNED AT THAT AGE IT
WAS NOT THE CAPTAIN OF MY SHIP.
AND IN THINKING ABOUT MY STORY
THE REFERENCE OF BEING CAPTAIN
OF MY SHIP KEPT COMING TO MY
MIND.
A NAUTICAL REFERENCE FOR RARE
DISEASE FEELS NATURAL TO ME.
BACKGROUND OF ME, I'M FROM
MINNESOTA KNOWN AS THE LAND OF
10,000 LAKES.
WE HAVE WATER ALL AROUND.
I GREW UP ON AND AROUND WATER MY
ENTIRE LIFE AND WAS A CAPTAIN ON
THE UNIVERSITY OF MINNESOTA
ROWING TEAM FOR FOUR YEARS SO I
SPENT 4 YEARS OF MY LIFE ON THE
MISSISSIPPI RIVER AND A LIKE
BOATS.
BECAUSE OF THIS INTEREST LAST
SEPTEMBER I FOUND MYSELF
VISITING THE USS MIDWAY MUSEUM
IN SAN DIEGO WHEN IN TOWN FOR A
RARE DISEASE CONFERENCE.
IT'S A RESTORED AIRCRAFT CARRIER
YOU CAN TOUR.
I CAME ACROSS THE READY ROOMS
THEY'D USE FOR PRE AND POST
FLIGHT BRIEFS AND PROBABLY
BECAUSE I WAS JUST AT A RARE
DISEASE CONFERENCE MY MIND
IMMEDIATE MY SAW THE SETUP AND
THOUGHT, HUH, I WONDER IF
EVERYONE INVOLVED IN MY RARE
DISEASE CARE COULD ALL SIT
TOGETHER AND BE WITH THEM IN A
MEETING.
WHICH THEN BECAUSE I'M A WRITER
AND MY MIND IS WIRED FOR STORY I
THOUGHT OF HOW PERFECTLY IT
WOULD BE FOR THE TRANSITION FROM
PEDIATRIC TO ADULTHOOD.
I THINK OF IT LIKE THIS.
THE RARE DISEASE YOU A OR
UNDERCHILD HAS IS THE BOAT.
ALL THE PEOPLE INVOLVED IN THEIR
CARE LIKE THEIR PRIMARY CARE
PHYSICIANS, SPECIALISTS,
PHARMACISTS, EDUCATORS,
EMPLOYEES, AND MANY MORE ARE ALL
HAVING DIFFERENT ROLES AND
EVERYONE'S BOAT OPERATES
DIFFERENTLY.
THESE PEOPLE ARE IN CHARGE OF
KEEPING THE BOAT FUNCTIONING AND
FLOATING AND IDEALLY THRIVING.
AS A KID, AT THE HELM OF THE
OPERATION, IS YOUR PARENTS.
THE CAPTAINS.
THE KID IS OWNER OF THE BOAT BUT
NOT IN CHARGE.
THEY'RE ROLE CAN VARY.
SOME ARE SECOND IN AND SOME ARE
SAILOR FURTHER BACK IN THE RANKS
AND OTHER PASSENGERS.
THE MOMENT YOU TURN 18 IN A LOT
OF INSTITUTIONS AND LEGALLY, YOU
BECOME THE CAPTAIN WHETHER YOU
WANT THE ROLE OR NOT IT BECOMES
YOURS.
YET THE TRANSITION OBVIOUSLY
WORKS BETTER FOR SOME THAN
OTHERS.
WE IMAGINE THE TRANSITION FROM
SECOND IN COMMAND TO CAPTAIN IS
A SMALLER JUMP THAN PASSENGER TO
CAPTAIN.
WHERE YOU SIT IN THE CHAIN OF
COMMAND AS A KID IS GOING TO
INFLUENCE YOUR OUTCOMES WHEN YOU
FINALLY BECOME THE CAPTAIN.
CIRCLING BACK TO MY STORY, I WAS
DIAGNOSED A YEAR AFTER THE
PICTURE WAS TAKEN.
TO PUT IT MILDLY MY RARE DISEASE
BOAT WAS INEFFICIENTLY RUN MOST
OF MY CARE.
I LIVED 45 MINUTES FROM MY
PEDIATRICIAN BECAUSE WE COULDN'T
FIND ANOTHER ONE AFTER WE MOVED
AWAY AS KNOWLEDGEABLE IN MY
CONDITION.
BECAUSE OF THAT WE RARELY SAW
HIM EXCEPT FOR CHECKUPS
THROUGHOUT THE YEAR.
THE CHAIN OF COMMAND IN MY BOAT
WAS CONFUSING AND WHILE WE
MANAGED TO KEEP MY BOAT AFLOAT
BECAUSE I'M STILL HERE TODAY, IT
WAS NOT SMOOTH SAILING.
AND FAST FORWARD 12 YEARS WE
LAND HERE.
I LOVE THE SYNCHRONICITY OF THE
TWO PHOTOS FROM MY CHILDHOOD TO
WHEN I TURNED 18 BECAUSE SIX
DAYS AFTER I TURNED 18 I HAD
SURGERY ON THE SAME KNEE THAT
START THE JOURNEY.
UNFORTUNATELY THAT DAY WAS ALSO
FILLED WITH ALMOST THE SAME
AMOUNT OF FEAR AND UNCERTAINTY
AS 6 YEARS OLD.
ALL THE APPOINTMENTS I WAS 17,
MY PARENTS WERE SIGNING THE
DOCUMENTS.
I WAS INVOLVED IN THE DISCUSSION
AND THINGS THAT LED UP TO IT BUT
NOT THE ONE SIGNING ALL THE
DOCUMENTS.
YET I SHOW UP ON THE DAY OF
SURGERY, SIX DAYS AFTER I TURN
18 AND I'M SUDDENLY RESPONSIBLE
FOR SIGNING MY LIFE AWAY FOR THE
FIRST TIME FOR A MEDICAL
PROCEDURE.
I WAS ALSO IN CHARGE OF MORE OF
MY CARE THAT DAY AND HAD A
COMPUTER SYSTEM KICK ME OUT OF
THE PEDIATRIC WING AND REASSIGN
ME TO THE ADULT WING BECAUSE OF
SIX DAYS.
I BECAME THE CAPTAIN OFFICIALLY
AT ONE OF THE MOST VULNERABLE
TIMES AS A HUMAN, BEFORE YOU GO
TO SURGERY.
IT WAS NOT READY.
THIS IS NOT HOW THE TRANSITION
SHOULD HAVE OCCURRED.
HOWEVER, DURING MY SURGERY
RECOVERY TIME BECAUSE I AM
SOMEONE THAT LIKES TO BE
PREPARED AND EDUCATED I TOOK IT
UPON MYSELF TO BECOME THE BEST
ADVOCATE I COULD AND BECOME THE
BEST CAPTAIN.
I WAS TAKING OVER A SHIP FILLED
WITH CHAOS IN ITS RANKS WHERE I
WANTED ORDER.
I USED MY VERY FRESH ADULT LEGAL
POWERS TO REQUEST ALL MY
CHILDHOOD MEDICAL RECORDS FROM
ALL MY INSTITUTIONS AND STARTED
ORGANIZING THEM AND GATHERING
THEM TO FULLY UNDERSTAND
EVERYTHING I HAD BEEN THROUGH AS
A KID.
WITHIN THIS CHAOS THE TRANSITION
WAS NATURALLY ROCKY.
THERE'S NO WAY IT COULD HAVE
GONE SMOOTHLY.
BECAUSE CLASSICAL EDS AFFECTS SO
MANY BODY SYSTEMS I'VE SEEN A
LOT OF SPECIALISTS OVER THE
YEARS.
SOME INCONSISTENTLY AND SOME
ANNUALLY.
BECAUSE I DIDN'T KNOW WHAT ELSE
TO DO MY SYSTEM BECAME
INTOLERABLE ENOUGH TO SEEK OUT
CARE.
AT THAT POINT I BLINDLY PICKED A
SPECIALIST FROM GOOGLE AND START
THE PROCESS ALL OVER AGAIN.
I SLOWLY BUILT UP MY ENTIRE
HEALTH CARE SYSTEM THIS WAY.
DIDN'T ALWAYS GO WELL AND ALSO
MEANT I RE-EXPLAINED MY
CONDITION A LOT.
I HAD A LOT BAD APPOINTMENTS.
I TRIED MULTIPLE SPECIALISTS TO
GET TO PLACES.
I WAS MET WITH BLANK STARES WHEN
MY CONDITION WAS NAMED AND GOT
UNHELPFUL RESULTS.
BUT IT ALSO MEANT THAT I --
[NO AUDIO]
I WAS A FRESH ADULT DOING MY
BEST.
THIS IS HOW A LOT OF YOUNG
PATIENT'S TRANSITIONS GO AND I
HOPE AS WE CONTINUE DIALOGUE
LIKE TODAY WE ARE GOING TO BE
ABLE TO CHANGE HOW WE INTERACT
WITH THIS IN THE FUTURE.
IF THERE AREN'T COORDINATED
CLINICS OR OTHER AVENUES OF
SUPPORT, A LOT OF MEDICAL CARE
CAN GO NEGLECTED WHEN THE
PATIENT BECOMES THE CAPTAIN.
I WISH HAD ALL THE ANSWERS.
BUT I KNOW MY PERSONALITY AND
INNATE DRIVE SAVED ME BUT I'M
LUCKY I AM WHO I AM.
I BELIEVE A PATIENTS'S
PERSONALITY SHOULD NOT DETERMINE
THEIR OUTCOME.
JUST BECAUSE THIS HAPPENED GOING
FORWARD I THINK AS WE CONTINUE
IMPROVING OUR DIALOGUE THESE ARE
SOME THINGS THAT I THINK COULD
HAVE HELPED ME WHEN I BECAME THE
CAPTAIN.
SOME THINGS TO HELP A CHILD
WOULD BE TO EDUCATE THEM EARLY
AND OFTEN IN THEIR CONDITION
ESPECIALLY AS THEY GROW OLDER
AND YOU CHANGE THE DIALOGUE AT
AGE-APPROPRIATE LEVELS.
STARTING THE PROCESS EARLY IS
VERY IMPORTANT BECAUSE IT LE%S
THE PROCESS STAY ON THE MINDS OF
THE PARENTS AND PATIENTS AS THEY
GO THROUGH PRETEEN TO TEENAGER
AND BEYOND.
ALSO BE PREPARED TO WHAT WILL
CHANGE IN YOUR CLINIC WHEN YOU
TURN 18.
SOMETIMES IT'S JUST YOU'RE
SIGNING THE LEGAL DOCUMENT.
THE CARE MAY NOT CHANGE UNTIL
YOUR 23, 24, 26 BUT IT'S
DIFFERENT FOR EVERY CLINIC SO BE
PREPARED SO YOU'RE NOT
BLINDSIDED LIKE I WAS SIX DAYS
BEFORE I TURNED 18.
PEDIATRIC PROVIDERS KNOW SOMEONE
TO RECOMMEND OR WORK WITH THEM
IN THIS TRANSITION.
AND PARENTS, THIS ONE'S TRICKIER
BUT FOLLOW YOUR CHILD'S
LEADERSHIP STYLE ONCE THEY TAKE
OVER AS CAPTAIN.
IT'S THEIR BOAT NOW.
THEY'RE IN CHARGE AND THEY GET
TO CHOOSE WHAT POSITION YOU HAVE
IN THIS ROLE.
RESPECT THIS.
AND LASTLY REMEMBER THERE'S NO
RIGHT WAY TO TRANSITION HEALTH
CARE.
WE'RE NOT TRYING TO FIND THE ONE
STANDARD.
WE'RE JUST TRYING TO FIND WAYS
THAT ARE BENEFITING MANY
PATIENTS AND AVOIDING THESE
UNHELPFUL WAYS THAT HAVE LASTING
NEGATIVE HEALTH IMPLICATIONS FOR
PARENTS.
BECOMING THE CAPTAIN OF YOUR
RARE DISEASE BOAT DOESN'T NEED
TO BE AN EXPERIENCE FILLED WITH
FEAR AND UNCERTAINTY LIKE MINE
DOES.
WE CAN HELP THE KIDS OF THE
FUTURE BECOME STRONG LEADERS IN
THEIR CARE AND IT'S DISCUSSIONS
LIKE THESE WE'RE HAVING TODAY
THAT ARE GOING TO MAKE THAT
HAPPEN.
THANK YOU.
>> I CAN BE CONTACTED AT ANY OF
THESE PLACES.
I'M ALWAYS WILLING TO CHAT BUT
WE HAVE A BIT OF TIME IF ANYONE
HAS ANY QUESTIONS.
[OFF MIC]
>> GOOD QUESTION.
FOR WHATEVER REASON, AGE 12
STANDS OUT TO ME.
THERE'S NO SCIENTIFIC DATA
BEHIND IT BUT I THINK IT'S YOUNG
ENOUGH YEAR STARTING TO ENGAGE
THAT EVENTUALLY YOU'LL BE IN
CHARGE OF YOUR HEALTH CARE AND
BE IN AN APPOINTMENT --
[OFF MIC]
>> ARE WE GOOD?
[OFF MIC]
>> ABBEY THANK YOU SO MUCH FOR
BEING UP THERE RIGHT NOW.
>> WE'LL LET AV FIGURE THAT OUT
>> OUR NEXT SPEAKERS YOU CAN SEE
THE TITLE OF THE TALK AS WELL AS
SOME OF THEIR CREDENTIALS AND IT
WILL BE UNIQUE IN THAT THEY'RE
PROVIDING A PROVIDER AND PATIENT
PERSPECTIVE AND WELCOME CARY
HARDING AND BRITTANY HOLMES.
>> I'M A PEDIATRICIAN IN
CLINICAL AND MOLECULAR BIO
CHEMICAL GENETICIST IN PORTLAND,
OREGON AND AN INVESTIGATOR FOR A
CONSORTIUM THAT MOSTLY
CONCENTRATES ON PKU THAT CAUSES
ELEVATED BLOOD PHENYLALANINE AND
JOINED BY BRITTANY HARDING IS A
UNIQUE RARE DISEASE PATIENT AND
PRACTITIONER.
SHE HAS MORE EXPERTISE SO I'LL
RACE THROUGH MY PART AND LET HER
GIVE YOU HER PERSPECTIVE.
WE HAVE DISCLOSURES MOSTLY IN
REGARD TO NOVEL THERAPIES FOR
MOSTLY PHENYLALANINE UREA
DISORDERS.
WE'LL TALK FROM THE PERSPECTIVE
OF PROVIDER AND PATIENTS AND
DISCUSS IMPROVING THE
TRANSITION.
WE DON'T HAVE MIRACLE ANSWERS TO
THOSE QUESTIONS.
ONE OF THE ISSUES WE HAVE IS
THAT THERE ISN'T TRANSITION FOR
OUT OF MY CLINIC BUT THEY DO
HAVE TRANSITIONS STILL THAT WE
NEED TO BE COGNIZANT OF.
I HAVE TO CONSTANTLY REMIND
MYSELF THEY'RE BECOMING ADULTS
AND WE HAVE TO BE REMINDED
THEY'RE TRANSITIONS WE NEED TO
DID EVEN THOUGH THEY'RE STILL
COMING FROM THE PEDIATRIC
CHILDREN'S HOSPITAL.
AND THERE ARE CHALLENGES AS A
PROVIDER I HAVE TO REMAIN
COGNIZANT OF AS THE ADOLESCENT
BECOMES INDEPENDENT THEY HAVE TO
FACE THESE CHALLENGE.
FROM A PROVIDER PERSPECTIVE, I
AS A PEDIATRIC THOUGH I'M
TRAINED AS A GENETICIST AND THAT
HANDLES THE LIFE SPAN I DON'T
UNDERSTAND A LOT OF ADULT ONSET
DISEASE AND I NEED HELP AS
PATIENTS BECOME ADULTS AND START
HAVING ADULT ONSET DISORDERS AND
HAVE TO RELY ON ADULT MEDICINE
COLLEAGUES AND I HONESTLY DON'T
KNOW THE ADULT COLLEAGUES THOUGH
MY INSTITUTION IS EMBEDDED
WITHIN A LARGER MEDICAL CENTER
AND I DON'T HAVE AS GOOD AS
CONNECTIONS WITH MY ADULT
COLLEAGUES SO THAT'S A BIT OF A
PROBLEM FOR ME AND IF I NEED SUB
SPECIALITY THERE'S LIKE 30 REF
NEPHROLOGISTS AND I DON'T HAVE
THE SAME CONNECTION IN THE
PEDIATRIC WORLD AS ADULT WORLD
SO THAT'S AN ISSUE.
I DON'T HAVE PRIVILEGES TO THE
ADULT HOSPITAL.
I NEED ASSISTANCE WITH THE
HOSPITAL SERVICE IF ONE OF MY
ADULT PATIENTS NEEDS TO BE
ADMITTED AND OVER ALL I HAVE
DIFFICULTY COORDINATING OUT
PATIENT CARE FOR MY ADULT
PATIENTS.
AND LOOKING AT THIS FROM THE
ADULT WORD I FIND TO BE
CHALLENGING.
>> I'M A PATIENT WITH A RARE
DISEASE BUT UNFORTUNATE TO NOW
BE A PROVIDER IN THE SAME PLACE
I WAS DIAGNOSED AND WHERE I GOT
CARE MOST OF MY LIFE.
I'VE BEEN ABLE TO SEE THE SYSTEM
FROM BOTH SIDES.
JUST A LITTLE BIT MORE ABOUT THE
PROVIDER PERSPECTIVE BEFORE I GO
ON TO THE PATIENT PERSPECTIVE.
WE HAVE A LITTLE BIT DIFFERENT
PERSPECTIVES BECAUSE I'M IN A
FREE-STANDING CHILDREN'S
HOSPITAL.
I DON'T HAVE ACCESS TO ADULT
PROVIDERS OR ADULT HOSPITAL IN
OUR DIRECT SYSTEM.
SO THAT CAN DEFINITELY MAKE IT
CHALLENGES AS YOU CAN IMAGINE.
SOME OF THE ISSUES ARE
REFERRALS.
IF I HAVE A PATIENT THAT WE NEED
TO SEE ANOTHER SPECIALIST AND
THEY'RE AN ADULT WE DON'T HAVE
ADULT ENDOCRINOLOGY OR OTHER
SPECIALISTS IN THE HOSPITAL.
WE HAVE TO HAVE THEM ASK FOR A
PRIMARY CARE FOR A REFERRAL TO
THE HOSPITAL.
THERE'S LOTS OF HOSPITALS IN THE
AREA.
WE HAVE THE ISSUE OF HAVING TO
ADMIT PATIENTS.
WE'RE A PEDIATRIC HOSPITAL AND
WERE ADMITTING ADULTS TO THE
PEED RICK HOSPITAL BUT THERE'S
DIFFERENT ADULT CHALLENGES THE
PEDIATRIC FLOORS WERE NOT
EQUIPPED TO DEAL WITH AND IT
BECAME A PROBLEM AND TRYING TO
ADMIT THEM TO A HOSPITAL THAT
CAN TAKE CARE OF THE ADULT
CONCERNS AND THE CHALLENGE IS
ALSO PROVIDING THEIR RARE
DISEASE CARE REMOTELY OR BY
PHONE IF THERE'S NO PROVIDER
THERE AND FOR ME I'M UNABLE TO
ORDER TESTING.
I CAN ORDER LABS BUT IF I HAVE
PATIENTS I FOLLOW PART OF THEIR
RARE DISEASE MONITORING WE CAN
NO LONGER IMAGING ON ADULTS
THAT'S SOMETHING I'D ALSO HAVE
TO ASK TO REQUEST THEIR PCP TO
DO ANOTHER REFERRAL.
THAT CAN MAKE THINGS FRAGMENTED.
PATIENTS CARE IN DIFFERENT
CENTERS.
SOMETIMES WE DON'T GET THE NOTES
BACK OR SOMETIMES IT'S DELAYED.
THAT CAN PRESENT DIFFERENT
CHALLENGES ESPECIALLY OF TRYING
TO MANAGE PATIENTS WITH COMPLEX
NEEDS.
THERE'S BEEN PROTOCOLS AND I'LL
USE PKU AS A BIG EXAMPLE BECAUSE
THAT'S THE RARE DISEASE I HAVE
BUT WITH PKU REQUIRES RESTRICTED
FOOD AND FORMULA AND THERE ISN'T
A GREAT PROTOCOL OF WHEN SHOULD
THESE CHILDREN BEING ABLE TO MIX
THEIR FORMULA ON THEIR OWN.
WHEN SHOULD THEY BE ABLE TO DO
X, Y, Z ON THEIR OWN AND MAKE
THEIR FOOD AND THERE'S NOT MUCH
GUIDANCE.
IT VARIES FROM CLINIC TO CLINIC.
THERE'S NOT CONSISTENCY OR
GUIDANCE AND LATER WE'LL TALK
ABOUT THE PATIENT PERSPECTIVE.
THERE'S ALSO INADEQUATE
RESOURCES FOR YOUNG ADULTADULTS.
A LOT OF PATIENTS WE HAVE NEURO
COGNITIVE DEFICITS AND WE'RE
EXPECTING THEM TO REMEMBER ALL
THESE THINGS WHEN THEY HAVE A
LOT OF DIFFERENT SPECIALISTS
THEY HAVE TO SEE OR THINGS TO DO
FOR THEIR CARE AND THERE'S JUST
NOT A LOT OF WRITTEN RESOURCES
FOR THINGS LIKE THAT.
IT VARIES CLINIC TO CLINIC.
SOME DEVELOPED THEIR OWN BUT
THERE'S REALLY NOTHING THAT'S
BEEN DEVELOPED THAT CAN BE GIVEN
TO PATIENTS AND BE CONSISTENT
MESSAGING.
AND THE SUPPORT RESOURCES TOO.
I'VE SEEN ADULT PATIENTS
STRUGGLE WITH AFFORDING A
MEDICATION AND THERE WAS SUPPORT
SERVICES BUT FOR PEDIATRICS BUT
NOT FOR ADULT.
SOMETIMES WE DON'T HAVE AS MANY
OPTIONS FOR THE SUPPORT SERVICES
ONCE PATIENTS GET IN THE ADULT
STAGE.
THE TRANSITION CAN BE DIFFICULT.
WHEN PATIENTS TURN 18 WE HAVE TO
GET RELEASE FORMS TO DISCUSS
THINGS WITH PARENTS AND MANY
PARENTS AT THIS STAGE ARE STILL
DOING MAJORITY OF THE CARE AND
THIS COULD BE CHALLENGING TO
MAKE SURE THE PATIENT
UNDERSTANDING ALL THIS IF THE
PATIENTS ARE DOING MOST THE
TALKING AT THE VISIT AND ON THE
PHONE.
WITH PATIENTS WITH
NEURODEVELOPMENT DISABILITY OR
COGNITIVE DEFICITS AND IN
ADDITION TO OTHER THINGS WE
TALKED ABOUT IS THE NEED FOR
CONCEPT.
WHEN WE HAVE TREATMENT OPTION OR
IMAGING OR THINGS LIKE THAT
WE'RE NAVIGATING THIS
CHALLENGING TIME OF CONSENT IF
THERE'S NO APPROPRIATE
GUARDIANSHIP OR CONSERVATORSHIP
IN PLACE.
THAT'S ONE DIFFICULT THING TO
MAKE SURE IS DONE WITHOUT
DELAYING CARE AND HAVING THE
CONVERSATION CAN BE DIFFICULT.
WE'RE FORTUNATE TO HAVE SOCIAL
WORK BUT NOT EVERY PATIENT HAS
THIS.
ADULT MOTIVATION IS ANOTHER
THING.
PARENTS ARE DOING A LOT OF THE
MANAGING BUT IN RARE DISEASE WE
HAVE A LOT OF OUR DISORDERS
DON'T HAVE GREAT TREATMENTS.
AGAIN I'LL USE PKU AS AN
EXAMPLE.
THE DATA SHOWED 88% OF ADULTS
ARE UNABLE TO ADHERE TO THEIR
RESTRICTED DIET.
WE COME TO THE ISSUE OF WHEN
THEY GET TO ADULTHOOD THEY SAY
IF I CAN'T MAINTAIN THIS, WHAT'S
THE POINT OF COMING TO CLINIC
AND WE HAVE A LARGE POPULATION
OF WHAT WE CALL LOSS TO
FOLLOW-UP.
WE DON'T HAVE ADULTS BECAUSE
IT'S HARD TO KEEP THEM MOTIVATED
TO STAY IN CLINIC IF THEY DON'T
FEEL THEY HAVE PROPER TREATMENT
OPTIONS.
SO BACK TO OUR PATIENT
PERSPECTIVE.
SO THE FACT THERE'S REALLY FEW
ADULT MEDICINE TRAINED
SPECIALISTS CAN BE DIFFICULT
FROM THE PROVIDER SIDE AS WELL.
PATIENT OFTEN SEEN IN A PETE
TRICK CENTER ESPECIALLY FROM THE
DISORDERS WE FOLLOW.
I CAN'T TELL YOU HOW MANY TIMES
I CALLED TO MAKE AN APPOINTMENT
AND THEY SAID WHAT'S YOUR
CHILD'S NAME.
I SAY I'M THE 30-YEAR-OLD CHILD,
THANKS FOR ASKING.
THAT HAPPENS A LOT.
PATIENT SEEN IN A PEDIATRIC
CENTER AND WE HAVE TINY LITTLE
CHAIRS AND IT DOESN'T FEEL LIKE
THEY ARE BEING SEEN AS AN ADULT.
IT CAN ALSO BE FRAGMENTED AND
MORE CHALLENGING FOR THE PATIENT
LIKE I TALKED ABOUT EARLIER.
THEY HAVE TO THEN GET A REFERRAL
FROM THEIR PRIMARY CARE PROVIDER
AND GO BE SEEN SOMEWHERE ELSE
AND NOW IT'S AN EXTRA VISIT AND
STEP AND ADULT VISIT CONCERNS
MAY RECEIVE EXTRA ATTENTION IF
THEY'RE NOT ADULT TRAINED
PROVIDERS, THOSE THINGS MAY BE
MORE DIFFICULT TO RECEIVE CARE.
FOR THOSE WHO CAN TRANSITION TO
AN ANY CENTER THAT'S ADULT
FOCUSSED IT'S STILL A CHALLENGE.
FOR ME IT'S A DISCUSSION THEY
WERE TRYING TO SEE IF WE COULD
FIND AN ADULT FOCUSSED CENTER
BUT I WAS AFRAID OF THAT BECAUSE
I WAS AT THE SAME PLACE SINCE I
WAS BORN AND TRUSTED THE HEALTH
CARE TEAM I HAD AND THERE'S
CULTURAL DIFFERENCES BETWEEN
PEDIATRIC AND ADULT PROVIDERS
THAT CAN BE UNEXPECTED FOR
PEOPLE AND IN PEDIATRICS THERE'S
A LOT OF SUPPORT AND HELPING
PEOPLE WHEN YOUR STRUGGLING.
WITH ADULT AREA YOU'RE AN ADULT
NOW AND PATIENTS ARE MORE ON
THEIR OWN.
THIS IS NOW YOUR RESPONSIBILITY.
AND THE INSURANCE CHALLENGES IN
RARE DISEASE IT'S A NIGHTMARE.
I'M SURE MANY PEOPLE WITH RARE
DISEASE HAD TO FIGHT WITH
INSURANCE.
AND NOT ONLY SIGNIFICANT
CHALLENGES BUT LACK OF EDUCATION
AND SUPPORT.
HOW DO WE PICK INSURANCE.
HOW DO WE KNOW TO MAKE SURE OUR
THINGS ARE COVERED AHEAD OF
TIME.
ALL THE THINGS WE DON'T HAVE
SUPPORT FOR.
YOU CAN SEE THIS A LOT ON
SUPPORT GROUPS.
DOES ANYONE KNOW IF ANYONE
COVERS THIS AND THERE'S NOT A
LOT OF GUIDANCE FOR THAT.
AND TRANSITION TO INDEPENDENCE
FROM THE PATIENT SIDE FROM
PARENTS MANAGING CARE TO YOU AS
THE PATIENT MANAGING CARE.
THERE'S INSUFFICIENT GUIDANCE
FROM CLINIC.
THERE'S NOT GREAT PROTOCOLS AND
NOT GREAT INFORMATION WHEN WE
SHOULD START DOING THESE THINGS.
ONCE YOU GET IN THE ADULTHOOD
STAGE THERE'S LESS SUPPORT.
YOU'RE MADE TO FEEL LIKE YOU'RE
AN ADULT NOW AND RESPONSIBLE FOR
YOUR CARE.
I HEARD THIS TOO IN A
PRESENTATION THE DISEASE
EDUCATION IS SO IMPORTANT.
WE GIVE THAT FROM THE PROVIDER
SIDE TO THE PARENTS AT THE TIME
OF DIAGNOSIS BUT IF THE CHILD IS
YOUNG THEY BECOME AN ADULT AND
WE ASSUME YOU ALREADY KNOW YOUR
DISEASE BY NOW.
I DID NOT KNOW.
I THOUGHT I HAD A GREAT
UNDERSTANDING OF PKU BUT DID NOT
REALIZE HOW MUCH MORE I NEEDED
TO UNDERSTAND UNTIL I STARTED
WORK IN METABOLISM.
DON'T GET THAT DETAILED IN DEPTH
CONVERSATION YOU USUALLY GET AND
IF YOU'RE A CHILD YOU DON'T
USUALLY GET THAT CONVERSATION.
THE CHALLENGE WITH MAINTAINING
TREATMENT FROM THE PROVIDER AND
PATIENT SIDE IF YOU DON'T FEEL
LIKE YOU HAVE GREAT OPTIONS,
THIS CAN BE A REAL STRUGGLE.
SO WRAPPING IT UP, WHAT DO WE DO
ABOUT THIS?
HOW DO WE IMPROVE THIS?
FIRST IMPROVEMENT ARE PROTOCOLS
AND GUIDELINES WOULD BE HELPFUL.
NOT TO SAY THIS IS GOING TO BE
APPLICABLE TO APPROACH BECAUSE
PATIENTS ARE DIFFERENT BUT HAVE
MORE GUIDANCE FOR PROVIDERS AND
PATIENTS WOULD BE BENEFICIAL.
THERE ARE PEDIATRIC FOCUSSED
CENTERS AND ADULT FOCUSSED
CENTER IS NOT AN OPTION, EXPAND
ALTERNATIVE OPTIONS SUCH AS
PARTNERING WITH ADULT CENTERS OR
OFFERING OUTREACH CLINICS SO
PATIENTS DON'T ALWAYS FEEL LIKE
THEY ARE COMING TO A PEDIATRIC
HOSPITAL.
MORE RESEARCH IS ALWAYS NEEDED
FOR THINGS LIKE ADULT
COMORBIDITIES, THE
NEUROCOGNITIVE OUTCOMES AND THE
LONG-TERM OUTCOMES AND HAVING
THAT CONVERSATION TO KEEP
PATIENTS ENGAGED AND MOTIVATED
AND THE WANT TO STAY IN CLINIC
IS IMPORTANT.
AND ASSISTANCE AND RESOURCE FOR
PATIENTS WHEN THEY TRANSITION.
HAVING THINGS IN WRITING AND
HAVING A PLAN IN PLACE FOR THAT
TRANSITION WHETHER YOU'RE
STAYING IN PEDIATRIC CENTER OR
WHETHER YOU'RE GOING SOMEWHERE
ELSE HAVING A PLAN FOR
TRANSITION IN PLACE CAN BE
BENEFICIAL.
OF COURSE, CONTINUED RESEARCH
FOR MORE TREATMENT OPTIONS.
THIS IS OBVIOUSLY VERY IMPORTANT
FOR EVERYONE WITH RARE DISEASE
AND TO KEEP PEOPLE MOTIVATED AND
I THINK IT'S IMPORTANT TO POINT
OUT ALL THESE THINGS SHOULDN'T
REALLY FALL IN ONE SPECIFIC
ORGANIZATION BUT COLLABORATIVE
APPROACH BETWEEN THE CLINICS,
RESEARCHERS AND PATIENT ADVOCACY
GROUPS.
THANK YOU VERY MUCH.
THESE ARE THE DATA USED FOR
OPTIMIZING THE DESIGNS FOR JEAN
TARGETED THERAPIES AND THE
ACCURACY OF GENETIC TESTING
TECHNOLOGIES.
THE UNDER REPRESENTATION OF
MINORITIES COULD BE THE CAUSE OF
AN UNEQUAL PERFORMANCE OF THESE
GENETIC TECHNOLOGIES.
A CLEAR DRIVER OF INEQUITY IS
RELATED TO THE DISTRIBUTION OF
WEALTH IN THISY COUNTRY.
ONE OF THE FANTASTIC ADVANTAGES
OF GENE-TARGETED THERAPIES, IT
MAY ONLY TAKE A 7-FIGURE
INVESTMENT TO HAVE EXPERIMENTAL
THERAPY READY FOR HUMAN TRIALS.
THIS IS AN AMAZING REDUCTION
FROM THE TYPICAL NINE-FIGURE
ESTIMATES OF TRADITIONAL
MODALITIES.
IT'S A REDUCTION THAT ALLOWED
SINGLE FAMILIES OR SMALL GROUPS
OF FAMILIES TO SPEARHEAD
DEVELOPMENT OF THERAPEUTICS.
THESE FEATS ARE REMARKABLE AND
WIDELY ADMIRED.
BUT WE CAN ALSO ASK, WHICH
FAMILIES HAVE THE RESOURCES TO
TAKE THAT JOURNEY?
WHICH PATIENTS GET TO
PARTICIPATE IN THOSE RESEARCH
OPPORTUNITIES?
IT IS ONLY IN THE GENE TARGETED
THERAPY SPACE THAT THERAPEUTIC
DEVELOPMENT FUNDERS, FUND A
CLINICAL TRIAL FOR THEIR CHILD
AND CHILDREN LIKE THEM IN THAT
ORDER.
HIGH-STAKES IN MANY
GENE-TARGETED THERAPIES, NOT
ONLY BECAUSE OF CONCERNS ABOUT
DISEASE PROGRESSION BUT BECAUSE
THERE IS SOMETIMES NO CLEAR PLAN
FOR HOW TO CONTINUE THE STUDY
AFTER THE FIRST 6-12 PATIENTS.
COMPOUNDING UNEQUAL DISTRIBUTION
OF RESOURCES, WHAT ABOUT THE
EMPATHY GAP?
IN THE SUCCESS STORIES OF RARE
DISEASE RESEARCH, IT IS
SEEMINGLY COMMONPLACE FOR
PHYSICIANS, RESEARCHERS, FUNDERS
AND INDUSTRY TO GO BEYOND THE
CALL OF DUTY AFTER GREETING A
PATIENT IN NEED OF A CHAMPION.
WHOSE LIVES INSPIRE THAT
RESPONSE AND WHOSE LIVES DO NOT?
A COMMON REASON FOR UNDER
REPRESENTATION IN GENE TARGETED
THERAPY IN CLINICAL TRIALS S HOW
EASY IT IS TO RATIONALIZE THE
LACK OF DIVERSITY INSTEAD OF
INVESTING IN DIVERSITY.
FOR MOST COMMON DISEASES, THERE
IS A SOLID EVIDENCE BASE FOR WHO
IS AFFECTED BY A GIVEN DISEASE.
IN MANY RARE DISEASE
COMMUNITIES, PATIENT GROUPS AND
RESEARCHERS ARE LEFT TO SQUINT
AT A HOMOGENOUS PATIENT
POPULATION WITH NO IDEAS IF IT
IS REFLECTIVE OF THE CARRIER
DISTRIBUTION OR WHO HAD THE
PRIVILEGE OF GETTING DIAGNOSED
AND BECOMING ENGAGED.
THIS IS TREMENDOUSLY IMPORTANT
BECAUSE OF HOW COMMON IT IS TO
JUSTIFY DISPROPORTIONATELY
WHITE, PATIENT ENROLLMENT IN
GENE TARGETED THERAPY STUDIES
BECAUSE OF THE POSSIBILITY OF
RACIAL OR ETHNIC CONCENTRATION
DESPITE THE FACT THAT MAJORITY
OF CHILDREN IN THIS COUNTRY ARE
NOT WHITE AND THE MAJORITY OF
RARE DISEASES IN THIS KOREAN,
EFFECT CHILDREN.
FINALLY, THERE IS THE
COMMONLY-RAISED ISSUE OF TRUST
AND MISTRUST.
DURING TODAY'S SESSION, I INVITE
THE AUDIENCE TO STOP THINKING
ABOUT THE SOURCES OF MISTRUST AS
ENTIRELY HISTORICAL AND TO
REFLECT ON WHETHER THE PRESIDENT
IS EQUITABLE ENOUGH TO DESERVE
TRUST TO BE IN AN ENVIRONMENT
WHERE WE CAN SUSPECT THERE IS
INEQUITABLE DIAGNOSIS, CARE,
SUPPORT SYSTEMS, OPPORTUNITIES
TO PARTICIPATE OR TESTING
RESULTING IN TRUST.
IF THE ANSWER ISN'T A
FULL-THROATED YES, THEN SHOULD
THE DISCUSSION OF TRUST BEGIN
WITH HOW WE WILL CHANGE THE
STATE OF AFFAIRS SO WE EARN
TRUST INSTEAD OF DISCUSSION OF
HOW TO OBTAIN IT BEFORE IT IS
DUE?
HAVING INTRODUCED A SMALL
CONTEXT ABOUT THE CURRENT STATE
OF INEQUITY, IT IS IMPORTANT TO
NOTE THAT SINCE THE MURDER OF
GEORGE FLOYD, THERE HAS BEEN A
LARGE INCREASE OF AWARENESS AND
EFFORT TO ADDRESS DEI ISSUES
BROADLY AND ALSO IN THE SPECIFIC
CONTEXT OF HEALTH AND MEDICINE.
MANY KEY ORGANIZATIONS ACROSS
THE RARE DISEASE COMMUNITY ARE
ENCOURAGING DIALOGUE, ORGANIZING
EDUCATIONAL CONFERENCES,
CREATING POSITIONS AND FUNDING
EQUITY AND HEALTH DISPARITY
GRANTS.
THERE IS INCREASED AGREEMENT
THAT SOMETHING MUST BE DONE TO
MAKE SURE THAT GENE-TARGETED
THERAPIES AREN'T JUST FOR THE
WEALTHY AND WELL CONNECTED,
INCLUDING ORGANIZATION THAT IS
HAVE BEGUN DEVELOPING
EXPERIMENTAL THERAPEUTICS FOR
PATIENTS REGARDLESS OF ABILITY
TO PAY.
THE FEDERAL GOVERNMENT STEPPED
UP TO THE PLATE WITH IMPORTANT
INITIATIVES INCLUDING EXECUTIVE
ORDERS TO ADVANCE RACIAL EQUITY,
THE NATIONAL ACADEMY'S RECENT
REPORT ON ADVANCING ANTI-RACISM
AND DEI IN STEM ORGANIZATIONS
AND NIH'S UNITE INITIATIVE,
DEVELOPMENT OF RACIAL AND EQUITY
PLANS ACROSS NIH ICs AND MORE.
OUR SPEAKERS EACH REPRESENT THE
PROMISE FOR A BRIGHTER AND MORE
EQUITABLE FUTURE.
I'M PLEASED TO INTRODUCE TODAY'S
SPEAKERS IN THE ORDER THEY WILL
SPEAK.
TSHAKA CUNNINGHAM, IS A
CO-FOUNDER AND CHIEF SCIENTIFIC
OFFICER AT POLARIS GENOMICS.
A LEADING VOICE IN ADVOCATING
FOR REPRESENTATION IN THE FIELD
OF GENOMICS AND A VOLUNTEER
LEADER OF NOON PROFIT STEM USE
PROGRAMMING FOR UNDER SERVED
COMMUNITIES.
HE PREVIOUSLY WORKED AT THE V.A.
HEADQUARTERS OVERSEEING A LARGE
NEURODEGENERATIVE DISEASE
RESEARCH PROGRAM AND SERVED AS
SUBJECT MATTER EXPERT FOR THE
V.A.'S GENOMIC MEDICINE
IMPLEMENTATION PROGRAM.
MOTIVATED BY THE TIMELY NEED FOR
ADVANCEMENTS IN PRECISION
MEDICINE, DR. CUNNINGHAM IS
DEDICATED TO IMPROVE PEOPLE'S
LIVES THROUGH THE POWER OF
GENOMICS.
HE RECEIVED HIS BA FROM
PRINCETON UNIVERSITY AND PH.D.
FROM ROCKEFELLER UNIVERSITY.
COMPLETED POSTDOCTORAL TRAINING
AT THE PAS TOUR INSTITUTE IN
PARIS, FRANCE.
SHENGDAR TSAI IS AT ST. JUDE'S
CHILDREN REACH HOSPITAL FOCUSING
ON GENOME EDITING TECHNOLOGIES
FOR THERAPEUTICS, INCLUDING
METHODS TO DEFINE THE
GENOME-WIDE SPECIFICITY OF CHRIS
PER KAS NUCLEASES AND EDITING
HEMATOPOIETIC STEM CELLS, FOR
TREATMENT OF HEMOGLOBINOPATHIES,
SUCH AS T-CELLS OR CANCER
IMMUNOTHERAPY.
HE WAS CHOSE AN AS OUTSTANDING
INVESTIGATOR.
HE RECEIVED HIS BS IN
BIOCHEMISTRY AND CHEMISTRY FROM
THE UNIVERSITY OF MICHIGAN AND
MS IN BIOINFORMATIC AND PH.D. IN
FUNCTION AT GENOMICS FROM THE
NORTH CAROLINA STATE UNIVERSITY
AND COMPLETED BOTH POSTDOCTORALS
AT NATIONAL HOSPITAL AT HARVARD
MEDICAL SCHOOL.
MARIO ESTEVEZ IS AN ORGANIZER
WITH THE RACIAL EQUITY INSITUTE
WHERE HE FACILITATES TRAININGS
THAT BRING AWARENESS AND
ANALYSIS TO ROOT CAUSES OF
RACIAL DISPARITIES AIMING TO
CREATE RACIALLY-EQUITABLE
ORGANIZATIONS AND SYSTEMS.
HE IS CURRENTLY WORKING TO BRING
RARE DISEASE INSTITUTIONS TO A
MORE COMPREHENSIVE UNDERSTANDING
OF WHAT INSTITUTIONAL AND
STRUCTURAL RACISM LOOKS LIKE AND
THE WAYS IN WHICH THEY CAN HELP
FOSTER MORE EQUITABLE OUTCOMES.
IN ADDITION, FOR THE LAST SIX
YEARS, Mr. EVAPORATEY SAYS
SERVED ON THE BOARD OF --ESTY
SAYS -- HUNTER SYNDROME RESEARCH
AND ADVOCACY FOUNDATION.
HE HAS WORKED TO ADD RARE
DISEASES TO THE PANEL FOR
NEWBORN SCREENING AND NEGOTIATED
DONATED MEDICINE FOR CHILDREN
WITH HUNTER SYNDROME IN THE
DEVELOPING WORLD.
PROJECT ALIVE, A NONPROFIT, IS
CURRENTLY FINDING A TRIAL THAT
LOOKS TO CURE HUNTER SYNDROME.
HE RECEIVED HIS BA IN HISTORY
AND AFRICAN-AMERICAN STUDIES
FROM THE UNIVERSITY OF CENTRAL
FLORIDA AND WILL BE JOINING
UNITED STATES AS A DIGITAL
PRESENTER TODAY.
WITH THAT, IT'S MY PLEASURE TO
BRING DR. CUNNINGHAM TO THE
STAGE.
>> TSHAKA CUNNINGHAM: THANK YOU.
THANK YOU FOR THAT GREAT
INTRODUCTION.
IT'S HUMBLING TO BE STANDING ON
THIS STAGE.
I TRAINED AS A POSTDOC.
I DID TWO POSTDOCS HERE AT THE
NIH AT THE NATIONAL CANCER
INSTITUTE AND AT THE NATIONAL
INSTITUTE OF ALLERGIES AND
INFECTIOUS DISEASES.
NIH IS LIKE A HOME TO ME.
AS A YOUNG SCIENTIST OF COLOR,
REALLY GETTING MY START HERE AND
INS OPERATION HERE TO CONTINUE A
CAREER IN SCIENCE.
SO I'M HOPING TO SEE MORE OF
THAT HERE AS NIH SEEKS TO
DIVERSIFY THE SCIENTIFIC STAFF
AND THAT'S A VERY IMPORTANT
ENDEAVOR.
SO FOR TODAY'S TALK, I'M GOING
TO GO THROUGH SOME SLIDES VERY
QUICKLY.
I WANT TO HURRY UP AND GET
THROUGH THESE TO GET TO THE END,
WHICH IS THE PART I'M MOST
EXCITED ABOUT.
BUT I'M VERY EXCITED TO BE PART
OF THIS CONVERSATION, BECAUSE
THIS IS A VERY IMPORTANT TOPIC
FOR OUR FIELD.
NOT JUST A FIELD OF RARE
DISEASE, BUT IT'S ALL OF
MEDICINE.
STRUGGLING WITH THIS DIVERSITY
PROBLEM SO IT WILL BE IMPORTANT
TO UNDERSTAND HOW WE CAN ADDRESS
IT.
SO I'LL TALK TO YOU TODAY ABOUT
MY EXPERIENCE BOTH AS A
SCIENTIST OF COLOR, SOMEONE WHO
WORKED A LOT NOVEMBER COMMUNITY
TRYING TO REACH OUT TO UNDER
REPRESENTED POPULATIONS AND AS
SOMEONE WHO REALLY CARES ABOUT
THIS ISSUE THAT IS AFFECTING ALL
OF US.
I'M A SCIENTIST.
SO AS A MOLECULAR BIOLOGIST,
PH.D., FOR ME IT'S ALWAYS BEEN
ABOUT THE DNA.
THERE IS A VERY POPULAR SONG
WHEN I WAS A YOUNG COLLEGE
STUDENT CALLED, ALL ABOUT THE
BENJAMIN'S BABY.
IT'S ALL ABOUT THE DNA, BABY.
SO THIS AMAZING MOLECULE, WHICH
IS UNIQUE TO EACH OF US THAT WE
GOT FROM OUR PARENTS.
AND UNDERSTANDING THAT UNIVERSE
OF 3.2 BILLION ATCs AND Gs,
IT MAKES EACH OF US UNIQUE IS SO
IMPORTANT TO HELPING US
UNDERSTAND HOW TO BEST PRESERVE
OUR HEALTH IN THE FUTURE.
AND WE ARE ABLE TO DO THIS AT AN
AMAZING PACE DUE TO ADVANCES IN
DNA SEQUENCING TECHNOLOGY THAT
I'LL DISCUSS.
WHY IS DIVERSITY IMPORTANT?
SO SOME BASIC FACTS IS THAT
EARLY HUMANS EVOLVED OUT OF THE
CONTINENT OF AFRICA.
I WAS AT A GENETIC RESEARCH
CONFERENCE RECENTLY WHERE I
LEARNED THAT LESS THAN 2% OF ALL
OF THE DNA EVER SEQUENCED WAS
FROM AFRICA.
THAT DOESN'T REALLY MAKE SENSE
TO US IN A SCIENTIFIC CAPACITY
BECAUSE EVERYBODY EVOLVED FROM
THE CONTINENT OF AFRICA.
SO IT WOULD BEHOOVE US TO
UNDERSTAND AFRICAN GENOMES
PROBABLY MORE THAN ANY OTHERS.
BUT FOR REASONS THAT HAVE
PERSISTED FOR DECADES HERE,
AFRICAN AND AFRICAN-AMERICAN
GENOMES ARE UNDERSTUDIED.
IT'S SOMETHING WE REALLY WANT TO
ADDRESS AS WE MOVE FORWARD AND
IT HELPS US REALIZE THAT
DIVERSITY AND GENOMICS IS NOT
JUST GOOD FOR THE AFRICAN
POPULATION.
IT'S GOOD FOR ALL OF US SINCE
FOUNDER POPULATIONS OF HUMANS
EMERGED OUT OF AFRICA.
SO UNDERSTANDING MORE ABOUT
AFRICAN GENOMES IS SOMETHING I
HOPE TO SEE HAPPENING NOT ONLY
AT THE NIH BUT AT EVERY PLACE
THAT DOES GENOME RESEARCH.
IT'S EVEN MORE IMPORTANT TO
THINK ABOUT THE GROWING
DIVERSITY OF OUR COUNTRY.
SO RIGHT NOW THE UNITED STATES,
WE ARE AMONG A MAJORITY-MINORITY
POPULATION UNDER THE AGE OF 16.
SO SOME OF THE KIDS I'M GOING TO
TALK ABOUT THAT I TRAIN THAT ARE
IN THE TEENAGED YEARS, THEY ARE
THE MAJORITY OF THE POPULATION
NOW FROM A DIVERSITY
PERSPECTIVE.
SO GENOMICS AND RARE DISEASE
RESEARCH IS GOING TO KEEP PACE
WITH THIS GROWING DIVERSITY.
AND THIS IS PARTICULARLY
IMPORTANT GIVEN THE FACT THAT
SEQUENCING IS GOING TO BE MORE
ACCESSIBLE BECAUSE THE COST OF
SEQUENCING IN OUR CAPACITY TO
SEQUENCE HUMAN GENOMES HAS GONE
DOWN DRAMATICALLY SINCE THE
FIRST HUMAN GENOME WAS SEQUENCED
OVER 20 YEARS AGO.
NOW WE ARE AT THE 100 GENOME,
WHICH IS VERY EXCITING.
WE CAME FROM THE 3 BILLION
DOLLAR GENOME TO THE 100 DOLLAR
GENOME.
IT IS GOING TO DEMOCRATIZE
ACCESS TO GENETIC TECHNOLOGY FOR
EVERYBODY.
AND THAT SHOULD BE VERY EXCITING
TO ALL OF US.
THAT MEANS WE ARE GOING TO HAVE
MORE SEQUENCING DATA WHICH IS
GOING TO ALLOW US TO UNDERSTAND
MORE ABOUT INDIVIDUALS AND THE
DISEASES THAT THEY SUFFER FROM
AND HOW TO TAILOR TREATMENTS FOR
THEM.
SO WE ARE AT THAT INFLECTION
POINT.
WE ARE IN THE GENOME ERA.
SO THIS IS A VERY EXCITING PIECE
THAT WILL EFFECT NOT ONLY RARE
DISEASE, BUT ALL OF MEDICINE AND
I'M HAPPY THAT OUR GOVERNMENT,
THE NIH AND OTHER AGENCIES HAVE
MADE BIG INVESTMENTS IN GENOMICS
AND PRECISION MEDICINE.
THIS IS A SLIDE FROM THE NIH
WEBSITE ON THE PRECISION
MEDICINE INITIATIVE.
AND FOR ALL OF THIS IS TO GET US
FROM THIS SORT OF ONE SIZE FETES
ALL MEDICINE THAT HAVE BEEN
PRACTICED FOR DECADES --
ONE-SIZE-FITS-ALL -- TO PRE
PRECISION WHERE WE UNDERSTAND
EVERYTHING ABOUT IT
INDIVIDUALLY.
GENOMICS, LIFESTYLE, FAMILY
HISTORY, TO TAILOR TREATMENTS
AND HOW THEY UNDERSTAND TO
DIFFERENT TREATMENTS.
SO WE'RE NOT ONLY GOING TO GET
AN IDEA OF WHO IS SUSCEPTIBLE
FOR WHAT RARE DISEASE BUT WHO
WILL RESPOND BEST TO WHAT
TREATMENT.
AND THAT IS THE REAL PROMISE
HERE.
AND THAT IS WHY IT IS IMPORTANT
WE HAVE THIS INFORMATION FOR
EVERYONE.
WE HAVE A LOT OF WORK TO DO IN
THIS FIELD BECAUSE BIAS IS
PERSISTENT AND IT'S BEEN AROUND
FOR A LONG TIME.
WELL DOCUMENTED.
THIS IS SOME KIND OF OLD DATA
NOW BUT EVEN IF YOU LOOK BACK IN
THE YEAR 2009, THERE WERE OVER
ONE HADN'T 7 MILLION SAMPLE
STUDIED GENETICALLY AND 96% ARE
FROM EUROPEAN ANCESTRY.
2016, THAT PERCENT ANNUAL GOT A
LITTLE BETTER WITH THE ADVENT OF
MORE LATINOS BEING STUDIED IN
INDIA AND CHINA BUT YOU HAVE
LESS THAN 4% FROM
AFRICAN-AMERICAN AND LATINO AND
OTHER POPULATIONS.
SO THAT IS A DISPARITY WE HAVE
TO CHANGE.
AND WHEN WE REALLY BREAKDOWN THE
ROOT CAUSES OF THAT, THERE IS A
LOT OF PSYCHOSOCIAL REASONS FOR
THIS.
THERE IS A LOT OF LACK OF TRUST
IN THE MEDICAL ESTABLISHMENT,
MEANING THAT PEOPLE DON'T WANT
TO PARTICIPATE AND PROVIDE
SAMPLES.
AND THIS IS SOMETHING THAT WE
ARE ALL GOING TO HAVE TO ADDRESS
FOR ALL OF US PROGRAMS TO REALLY
BENEFIT ALL OF US.
SO WHEN IT COMES TO THIS MEDICAL
RESEARCH, THE ENTIRE FIELD TRUST
IS LACKED.
WE HEARD IT OVER AND OVER AGAIN.
AND I'LL GIVE YOU THREE
EXHIBITS.
EXHIBIT A FOR WHY TRUST IS
LACKING PARTICULARLY FOR
AFRICAN-AMERICANS, THE COMMUNITY
I COME FROM.
WE ALL HEARD ABOUT THE TUS
KEYINGY STUDY.
IT WAS LANDMARK EXAMPLE OF
MEDICAL MALPRACTICE THAT LED TO
THE MODERN -- A GOOD THING CAME
OUT OF THAT BUT IT WAS PAINFUL
AND STILL A PSYCHOLOGICAL SCAR
FOR MANY AFRICAN-AMERICANS WHO
REMEMBERS WHAT HAPPENED THERE.
EXHIBIT B IS INDIVIDUALS LIKE
HENRIETTA LACKS.
WE HEARD HER STORY WHERE HER
CELLS WERE TAKEN FROM HER
WITHOUT HER PERMISSION AND USED
TO GO USED IN RESEARCH WITHOUT
HER PERMISSION AND WITHOUT
BENEFIT TO HER OR HER FAMILY.
SO THAT IS ANOTHER INSTANCE THAT
LED TO AN EROSION OF TRUST.
AND MOST IMPORTANTLY, IS IN
EVERYDAY LIFE, THE AVERAGE
AFRICAN-AMERICAN EXPERIENCES IN
THEIR HEALTH CARE INTERACTIONS
FEELING LIKE THEY ARE NOT
GETTING THE MOST OUT OF THE
SYSTEM, LEADS TO THAT
DESTRUCTION.
THEY ARE NOT BEING TAUGHT TO BY
HEME WHO LOOK LIKE THEM OR NOT
BEING ENGAGED PROPERLY.
THESE ARE THE THINGS WE NEED TO
ADDRESS IF WE ARE GOING TO MOVE
FORWARD.
THIS IS SOME OF THE WORK WE DO
IN THE COMMUNITY THROUGH MY
NON-PROFIT ORGANIZATION.
WE WORK WITH CHURCHES AND OTHER
CIVIC GROUPS TO TALK TO
INDIVIDUALS IN CHURCH ABOUT
GENOMICS AND PRECISION MEDICINE.
THE REASON WHY I FEEL LIKE THAT
IS A VERY POWERFUL APPROACH IS
BECAUSE FOR AFRICAN-AMERICANS,
THE CHURCH IS ALWAYS BEEN A SAFE
PLACE.
IF YOU GO ALL THE WAY BACK TO
THE DAYS OF SLAVERY, PLACES
WHERE AFRICAN-AMERICANS CAN
SAFELY GATHER WERE RARE BUT THE
CHURCH WAS ONE OF THEM.
IT'S NO COINCIDENCE TO ME THE
CIVIL RIGHTS MOVEMENT IS ROOTED
OUT OF THE CHURCH AND LED BY A
PREACHER.
BECAUSE THESE ARE TRUSTED VOICES
IN THE COMMUNITY.
SO I THINK THAT WE ARE GOING TO
NEED TO CONTINUE TO ENGAGE
TRUSTED VOICES IN THE MEDICAL
COMMUNITY WITHIN THE CONTEXT OF
THE CHURCH AND CREATE THESE
HONEST BROKERS.
THAT'S WHAT WE CALL THE FOLKS
WHO ARE COMMUNICATING FOR US.
SCIENTISTS OF COLOR WHO ARE ALSO
IN MANY CASES PEOPLE OF FAITH,
WHO ARE FROM THE COMMUNITIES
THEY ARE TALKING TO.
WE FOUND THAT THAT HAS BEEN A
VERY EFFECTIVE STRATEGY FOR
REBUILDING TRUST IN THE
COMMUNITY.
CURRENTLY WE ARE DOING AN
OUTREACH PROJECT WITH THE NIH
ALL OF US PROGRAM, WHERE WE ARE
SHARING INFORMATION ABOUT
GENETICS AND HEALTH AND
ENCOURAGING ALL OUR MINORITY
CITIZENS TO PARTICIPATE IN THE
PROGRAM.
STAY TUNED FOR THAT AND I'LL
SHARE MORE INFORMATION LATER.
SO WHAT ARE SOME STRATEGIES ON
HOW WE CAN REALLY OVERCOME THIS
DISTRUST?
THAT IS SOMETHING I SPEND A LOT
OF TIME UP AT NIGHT THINKING
ABOUT.
SOME OF THE THINGS I LEARNED
FROM THE DIFFERENT EXPERIENCES
I'VE HAD, IS IF WE HIGHLIGHT THE
HEALTH BENEFITS THAT MINORITY
PATIENTS HAVE SEEN THUS FAR DUE
TO ADVANCES IN SCIENCE AND
BIOMEDICAL RESEARCH, THEN WE
MIGHT START TO BEGIN TO
UNDERSTAND WHY PEOPLE SHOULD
PARTICIPATE.
I ALWAYS FEEL LIKE AS A
SCIENTIST OR A DOCTOR, JUST
ASKING YOU FOR YOUR SAMPLE IS
SOMETHING THAT IS VERY COLD.
WHEREAS IF I SAY THAT, I WANT TO
DO RESEARCH THAT IS GOING TO
IMPROVE YOUR HEALTH AND HERE ARE
SOME EXAMPLES OF HOW THAT HAS
HAPPENED, THAT'S A DIFFERENT AND
MORE WARM APPROACH.
OUR APPROACH THAT I FEEL HAS
BEEN VERY EFFECTIVE IS TO
PROVIDE WHAT WE CALL, CULTURALLY
CONGRUENT HONEST BROKERS THAT
CAN BE TRUSTED SOURCES OF
SCIENTIFIC INFORMATION FOR
AFRICAN-AMERICANS AND OTHER
MINORITIES WHO LACK TRUST.
LITERALLY HAVING PEOPLE THAT
LOOK LIKE YOU THAT ARE FROM THE
COMMUNITY THAT ARE SCIENTISTS
AND DOCTORS TALKING TO YOU AND
SHARING INFORMATION IN A WAY
THAT MAKES YOU FEEL MOST
COMFORTABLE.
THAT IS VERY EFFECTIVE.
AND THEN FINALLY THE PIECE I'M
MOST EXCITED ABOUT AND I'M GOING
TO END ON, TRAINING A NEW
GENERATION OF DIVERSE SCIENTISTS
WHO WILL COME AND HELP US
ADDRESS RACISM AT THE HIGHEST
LEVELS OF ACADEMIA, INDUSTRY AND
GOVERNMENT TO CREATE A TRULY
LEVEL PLAYING FIELD.
KEEPING IN MIND MAJORITY
MINORITY UNDER THE AGE OF 16
NOW.
WE ARE COUNTING ON THE FUTURE
TO -- FUTURE GENERATIONS TO HELP
US INVOLVE THIS PROBLEM.
SO HOW ARE WE DOING THAT?
THIS IS THE PART THAT MAKES ME
THE MOST EXCITED AND I'LL END ON
THIS.
TRAINING THE NEXT GENERATION OF
MINORITY SCIENTISTS IS SOMETHING
THAT WE SHOULD ALL BE ENGAGED IN
AND I HAVE TO SAY IT'S BEEN A
GREAT PRIVILEGE AND PASSION OF
MINE TO BE SOMEONE WHO HAS BEEN
ABLE TO REACH BACK TO THE
YOUNGER GENERATIONS AND BEGIN TO
TRAIN THEM ON HOW TO DO THE KIND
OF REACH THAT WILL SOLVE THE
CURES FOR TODAY'S RARE DISEASES
AND TOMORROW'S RARE DISEASES.
THESE ARE MINUTURE KINGS.
OUR FUTURE KINGS BIOMEDICAL
TRAINING PROGRAM, MY YOUNG MEN
HERE IN THE DC AREA.
IT'S A BIOMEDICAL RESEARCH
TRAINING PROGRAM THAT GOES
THROUGHOUT THE YEAR.
WE MEET EVERY OTHER SATURDAY AND
THESE YOUNG MEN, MY STAR
RESEARCHERS HERE WHO ARE DOING
GENETICS-BASED RESEARCH.
THEY ARE IN A GENETICS LAB.
THIS IS MY SON, HE CAN'T EVEN
FIT IN HIS LAB COAT.
HE IS 12 YEARS OLD, THE YOUNGEST
GUY.
THEY ARE DOING RESEARCH ON RARE
DISEASE RIGHT NOW.
AND I'M GOING TO TELL YOU ABOUT
SOME OF THE THINGS THAT THEY ARE
DOING.
THEY ARE DOING NEXT-GENERATION
SEQUENCING AND RUNNING
BIOINFORMATIC ANALYSIS AND THESE
ARE ALL KIDS AGES 12-18.
SO IF WE ARE STARTING THE NEXT
GENERATION OFF ON THIS PATH,
THEN WE ARE GOING TO BE IN MUCH
BETTER SHAPE AS I GET OLDER.
THIS IS A PROJECT THAT THE YOUNG
MEN CAME UP WITH.
PROJECT HELP MARCELES.
I HAVE MARCELES HERE IN THE
AUDIENCE.
HE IS ONE OF THE YOUNG FUTURE
KINGS.
HE STRUGGLED WITH A RARE
DISEASE.
CAN YOU STAND UP SO EVERYBODY
CAN SEE YOU?
[ APPLAUSE ]
MARCELLUS AND HIS MOM ARE HERE.
BUT WHEN HE WAS TALKING TO HIS
FELLOW FUTURE KINGS ABOUT HIS
ISSUE, THEY SAID, CAN'T WE HELP
HIM?
CAN WE COME UP WITH A RESEARCH
PROJECT TO HELP HIM?
I'M LIKE SURE WE CAN.
SO WE HIT A JOURNAL CLUB AND
PRESENTED THIS PAPER THAT TALKED
ABOUT GENES ASSOCIATED WITH
THIS.
ONE OF THE GENES WE DECIDED TO
CLONE WAS THE TSLP GENE.
PART OF THE PROJECT THEY CAME UP
WITH IS THEY ARE GOING TO CLONE
THIS GENE AND TRY TO CHANGE ITS
EXPRESSION INSIDE OF CELLS TO
SEE IF THEY CAN COME UP WITH A
BASIS.
AND THAT'S EXACTLY WHAT WE ARE
DOING.
WE ARE CLONING ONE OF THESE
GENES THAT IS INVOLVED IN THE
IMMUNOLOGICAL PATHWAY THAT LEADS
TO THIS DISEASE.
AND THEY ARE GOING TO BE DOING
THIS AS THEIR RESEARCH PROJECT
THIS YEAR.
THE STUDENTS WILL BE DESIGNING
LENTIVIRAL VECTORS EXPRESSING
DIFFERENT ISOFORMS AND TARGET
SHRNAs TO KNOCK DOWN THIS GENE
AND THEN PARTNER WITH LABS HAVE
AND THOSE VECTORS MADE AND THEN
MEASURE THEIR LEVELS, THE CHANGE
OF GENE EXPRESSION.
SO MY BOYS ARE ALL GOING TO
LEARN THIS AS PART OF A RESEARCH
TEAM TO HELP MARCELLUS.
SO PLEASE WISH US WELL ON THIS
PROJECT TO HELP MARCELLUS.
[ APPLAUSE ]
AND AN EXAMPLE OF WHAT WE CAN DO
WHEN WE INVEST IN OUR YOUTH AND
EXPOSE THEM TO SCIENCE EARLY.
I'M SO PROUD OF PROGRAMS LIKE
FUTURE KINGS BECAUSE IT HELPS US
RECRUIT THESE YOUNG MEN TO THESE
DIFFERENT STEM CAREERS TO DESIGN
PROGRAMS THAT MEET THEIR NEEDS
IN LEARNING AND AUGMENT WHEN
THEY ARE LEARNING IN SCHOOL AND
PRODUCING THE NEXT GENERATION OF
SCHOLARS.
OUR KIDS ARE GOING TO SOME
AMAZING SCHOOLS WHEN THEY
GRADUATE.
YALE, JOHNS HOPKINS, BCU,
MOREHOUSE AND THEY WERE LABELED
AT RISK.
SO MY MESSAGE TO US IS INVEST IN
PROGRAMS LIKE THIS AND CONTINUE
THE GREAT WORK IN THE COMMUNITY
NOT ONLY TO IMPROVE DIVERSITY IN
GENOMICS BUT OUR UNDERSTANDING
OF RARE DISEASE.
THANK YOU ALL.
[ APPLAUSE ]
>> THANK YOU VERY MUCH.
IT'S REALLY AN HONOR AND
PLEASURE TO BE HERE SPEAKING
TODAY.
MY TOPIC IS CONSIDERING IMPACT
ON GENETIC VARIATION ON SAFETY
AND OFF-TARGET ACTIVITY OF
GENOME EDITORS.
HERE IS MY QUICK CONFLICT OF
INTEREST DISCLOSURE SLIDE.
MY LAB WORKS ON GENOME EDITING
TECHNOLOGIES.
THE GOAL OF THIS IS TAKING THE
GENOMES OF LIVING CELLS AND THE
DNA.
HERE IS EDITING OR UNDERSTANDING
THE DNA.
AND ONE ASPECT IS FOR WHICH WE
AND MANY OTHERS HAVE BEEN
EXCITED ABOUT IS THE POTENTIAL
FOR CURATIVE GENETIC THERAPIES.
SO FOR CONDITIONS YOU MIGHT SEE
HERE ON THE LEFT COMMON GENETIC
CONDITIONS AND THEN WE HAVE A
LOT OF FOCUS AT ST. JUDE ON
CURATIVE FOR SICKLE CELL
DISEASE.
PRETTY COMMON GENETIC DISORDER
OR CANCER THERAPIES.
WE ARE IN A REALLY INSPIRING ERA
OF GENOMIC MEDICINES.
HERE IS SOME EXAMPLES OF THIS
FOR CONDITIONS LIKE SICKLE CELL
DISEASE AND FROM A NUMBER OF
DIFFERENT COMPANIES.
YOU CAN SEE HERE.
I'M SHOWING YOU HERE ON THE LEFT
THE PHOTO OF VICTORIA GRAY, ONE
OF THE FIRST PATIENTS DOSED ON A
THERAPY FOR SICKLE CELL DISEASE
FOR CRISPR THERAPEUTICS.
THIS IS SHOWING REMARKABLE
EFFICACY SO.
THIS IS THE FIRST OF A NUMBER OF
PROMISING TREATMENTS THAT ARE
DEVELOPING.
SO WE ARE ALSO TRYING TO MOVE
FORWARD IN CLINICAL TRIAL FOR
TREATMENT OF SICKLE AT ST. JUDE.
BUT THERE ALSO REMAIN UNMET
NEEDS FOR PATIENTS WITH OTHER
RARE DISEASES.
PATIENTS WITH SEVERE DISEASE AND
GENETIC MUTATIONS OFTEN FROM
UNDER SERVED POPULATIONS WITHOUT
AVAILABLE ALLOGENEIC STEM CELL
TRANSPLANTS.
SOME OF THE THINGS WE ARE
THINKING ABOUT IS BONE MARROW
DISORDERS AND OTHER NON
MALIGNANT CONDITIONS.
AND I THINK ONE OF THE ASPECTS
THAT IS FRUSTRATING TO US AND
MANY OTHER CARETAKERS THIS IDEA
YOU KNOW THE DISEASE-CAUSING
MUTATIONS AND THAT THERE IS NOT
REALLY CLEAR THINGS YOU CAN DO
ABOUT IT YET.
SO WHAT ARE THE THINGS WE MIGHT
BE ABLE TO DO?
AND SO PERSONIDES GENOME EDITING
IS AN IDEA THAT YOU MIGHT BE
ABLE TO CORRECT USE PATIENT'S
SPECIFIC DISEASE MUTATIONS.
THIS THE IS A GOAL WE ASPIRE TO
WITH THE SKY PROJECT CALLING
PARADIGM.
WE WILL DO THIS IN THE NEXT FEW
YEARS.
THE ASPECT OF THIS IDEA THEY CAN
BE PROGRAMMED USING MOLECULESY
SO YOU MIGHT BE ABLE TO SIMPLY
CHANGE THIS MOLECULE TO TARGET
NEW DISEASE MUTATIONS.
APPROACHES TARGETING CELL TYPES.
WE MY BE ABLE TO COMBINE OUR
UNDERSTANDING ABOUT EDITORS IN A
EFFICIENT REGULATORY PATH TO
ACHIEVE THESE TYPES OF GENOME
EDITING THERAPIES.
ONE IMPORTANT QUESTION IS HOW DO
WE ENSURE THAT THESE TYPES OF
GENOMIC THERAPIES ARE SAFE FOR
EVERYONE?
SO WE OFTEN HAVE EX-VIVO OR
IN-VIVO TYPE OF APPROACHES WHERE
HUNDREDS OF MILLIONS OF CELLS
MIGHT BE MODIFIED.
SYSTEMATIC LOW FREQUENCY
OFF-TARGET OR UNINTENDED
MUTATIONS MIGHT BE RELEVANT IF
THEY INCREASE GROWTH IN
ONCOGENIC RISK.
AND AGAIN, AS HAS BEEN
MENTIONED, EVERYONE'S GENOME IS
DIFFERENT.
MILLIONS OF DIFFERENCES FROM
INDIVIDUAL TO INDIVIDUAL.
SO HOW DO WE ACCOUNT FOR THAT IN
THESE THERAPIES?
AND SO, THAT'S WHAT MOTIVATED US
TO DEVELOP THESE GENOME SCALE
APPROACHES TO UNDERSTANDING WHAT
GENOME EDITORS DO.
WE ARE INTERESTED IN THIS
QUESTION, WHAT HAS CHANGED WITH
GENOME EDITING?
WE WANT TO AVOID OBSERVATIONAL
BIAS WHICH IS THE STREET LIGHT
EFFECT AND REPRESENTATION BIAS.
THE STREET LIGHT EFFECT IS THIS
VERY NATURAL TENANCY FOR HUMANS
AND SCIENTISTS AS HUMANS, TO TRY
TO LOOK WHERE THE LIGHT IS
BETTER.
YOU MIGHT MARGIN LOOKING FOR
YOUR KEYS IN A PARKING LOT,
YOU'RE LIKELY TO LOOK HERE BUT
YOU MIGHT MISS YOUR KEYS THERE.
SO IF YOU IMAGINE THE PARKING
LOT, THEN A LOT OF OUR APPROA
APPROACHES IS LIKE MIGHT BE
BIAS.
ANOTHER TYPE OF BIAS THAT MIGHT
BE LESS OBVIOUS IS
REPRESENTATION BIAS WHERE A LOT
OF THE GENOMES FOR PEOPLE OF
EUROPEAN DECENT.
MAYBE THEY ARE REPRESENTATION IN
THESE GENOMIC SEQUENCES MIGHT
LEAD TO OTHER TYPES OF
SEQUENCES.
IT'S REALLY IMPORTANT TO LOOK
BEYOND PRE CONCEIVED ASSUMPTIONS
IN WORKING ON THESE THERAPIES.
SO THESE UNBIASED -- AIM TO
ADDRESS TWO POSSIBLE BLINDSPOTS
IN OUR UNDERSTANDING OF SAFETY.
ONE IS WHAT ARE THE UNINTENDED
OFF-TARGET MUTATIONS THAT ARE
INTRODUCED BY GENOME EDITORS, ON
OTHER SPOTS IN THE GEGENOME.
AND THEN ALSO, HOW OFTEN AND HOW
MUCH DOES INDIVIDUAL GENETIC
VARIATION CHANGE THIS OFF-TARGET
ACTIVITY?
SO, I'M SHOWING YOU HERE A CHART
FROM THE HOLLYWOOD DIVERSITY
PROJECT WHERE THEY ARE LOOKING
AT THE REPRESENTATIONS GAP IN
THE FILM.
YOU LOG ON TO NETFLIX AND YOU
SEE THINGS LIKE REPRESENTATION
PATTERNS.
I THINK YOU FEEL THAT -- EVEN IN
THE LAST FEW YEARS, YOU'RE
SEEING BROADER REPRESENTATION IN
FILMS.
THIS CHART SHOWS THAT THERE IS
BROADER REPRESENTATION BY
MINORITY ACTORS COMING
UP-AND-COMING.
BUT YOU CAN SEE THE CHART ON THE
RIGHT, GENOME ASSOCIATION
STUDIES HERE.
SO YOU CAN SEE THE GLOBAL
POPULATION IN BILLIONS HERE.
STILL VASTLY OVERREPRESENTED FOR
EUROPEAN GENOMIC GWAS STUDIES
AND THEN LESS FOR OTHER
INDIVIDUALS -- INDIVIDUALS FROM
OTHER COUNTRIES.
SO THIS LACK OF REPRESENTATION
INCREASES THE RISK OF UNKNOWNS
FOR THESE UNDER REPRESENTED
POPULATIONS.
SO THE APPROACH WE AND MANY
OTHERS USED TO UNDERSTAND
GENOME-WIDE ACTIVITY SERVED IN
SILICO PREDICTION AND TARGETED
SEQUENCING.
IT'S A VERY SIMPLE IDEA WHERE
YOU MIGHT COMPUTATIONALLY
PREDICT SITES THAT ARE SIMILAR
TO YOUR TARGET SEQUENCE.
YOU CAN FIND SOME SPACE BUT THE
DISADVANTAGE IS THAT IT'S BIASED
BY YOUR INITIAL ASSUMPTIONS AND
ALSO THE GENOME REFERENCE AND
REPRESENTATION IN THE SEQUENCES
THAT ARE GOING INTO IT.
SO AS I MENTIONED, WE FOCUSED ON
DEVELOPING EXPERIMENTALLY
UNBIASED METHODS TO DEFINE
OFF-TARGET ACTIVITY.
INCLUDING METHODS LIKE CHAIN
SEEK ON THE LEFT AND GUIDE SIKH
ON THE RIGHT.
A FOCUS ON GUIDE SEEK ON THE
RIGHT WHERE WE TAKE EDITED
CELLS, ADD A SMALL DNA TAG.
THIS GETS INCORPORATED IN DNA
THAT ARE CUT BY GENOME EDITORS.
SO IT'S A LITTLE BIT LIKE AIR
TAG FOR YOUR KEYS BUT INSTEAD
FOR DNA.
SO YOU CAN USE THESE METHODS TO
DEFINE THE EFFECTS OF JULY
VENETIC VARIATION.
THIS IS A STUDY WE HAVE IN
PROGRESS.
96 PEOPLE FROM 1000 GENOMES
PROJECT.
FOUR DIFFERENT COMPUTATIONS
INCLUDING EUROPEAN ANCESTRY,
CHINESE, AFRICAN-AMERICAN AND
MEXICAN-AMERICAN.
WE ARE TAKING THESE
LYMPHOBLASTOID CELL LINES, CELLS
FROM ALL THESE DIFFERENT PEOPLE,
EDITING THEM AND ADDING THIS
SHORT DNA TAG.
AND WE ARE GOING TO DO SIX
REPRESENTATIVE TARGETS.
GUIDE SEQ2 IS PART OF THE GENOME
EDITING CONSORTIUM TO STREAMLINE
AND LOOK AT A LARGE NUMBER OF
SAMPLES AND UNDERSTAND THE
GLOBAL GENOME-WIDE ACTIVITY.
WE FOUND IT IS COMPARABLE TO OUR
EARLIER APPROACHES.
AND SO HERE WE HAVE TWO AND WE
ARE STARTING TO SEE THE TARGET
LANDSCAPE OF INDIVIDUALS FROM
THE THOUSAND GENOMES PROJECT.
SO ON THE X AXIS HERE, IF I CAN
GET THIS POINTER TO WORK.
ON THE X AXIS WE HAVE THE NUMBER
OF DIFFERENT OFF-TARGET SITES
AND ON THE Y AXIS, ARE DIFFERENT
INDIVIDUALS.
WHAT CAN YOU SEE BROADLY FROM
THIS HEAT MAP, VARYING LEVELS OF
ACTIVITY.
SPOTS THAT JUMP OUT THAT ARE
DARKER OR YELLOW SPOTS.
INCREASED OR DECREASED
OFF-TARGET ACTIVITY FOR A PERSON
AT A PARTICULAR POTENTIAL
OFF-TARGET SITE.
WHEN WE ANALYZE THIS USING VIDEO
MODEL, WE CAN FIND THAT THERE
ARE SITES THAT ARE SIGNIFICANT
INCREASE.
OVERALL THIS STUDY SHOWS AROUND
18% OF OFF TARGETS CONTAIN
GENETIC VARIATION WITHIN OUR
POPULATION.
THAT AROUND -- EFFECT ACTIVITY
FOR SITES THAT CONTAIN THE
VARIATION.
3.4% OF VARIANTS ACTIVITIES.
WE ALSO TOOK A LOOK AT THIS IN
EDITED HUMAN T-CELLS.
HERE ARE SOME EXAMPLES WHERE YOU
CAN SEE ACTIVITY.
EDITORS ACROSS TWO DIFFERENT
AREAS.
YOU SEE IN GENERAL IT'S MOSTLY
THE SAME ACROSS ALL THESE
DIFFERENT SITES BUT THERE IS ONE
SITE WHERE IT'S QUITE OFF,
DIAGONAL.
THAT SITE I'M SHOWING YOU HERE
ON THE RIGHT IS -- IN THE BOX IS
A POINT OF POTENTIAL GENETIC
VARIATION DIFFERENCES.
THESE ARE TWO POINTS WHERE A
GENETIC VARIANT OR A SNP AT THE
TARGET CENTER.
THAT CAUSES TARGET ACTIVITY TO
INCREASE BY AROUND 3 DOZEN-FOLD.
SO IN SUMMARY, I TOLD YOU ABOUT
SENSITIVE EXPERIMENTALLY
UNBIASED METHODS FOR GENOME
ACTIVITY.
CELLULAR AND BIOCHEMICAL METHODS
THAT CAN USE TO FIND THE BEST
EDITORS AND TARGETS FOR
COMPUTATIONS.
THAT SMALL GENETIC DIFFERENCES
CAN SIGNIFICANTLY EFFECT OUR
TARGET ACTIVITY AND POTENTIALLY
THE SAFETY OF THESE EDITORS.
WE OBSERVED IN OUR INITIAL
STUDY, CHANGES.
OVERALL IT IS IMPORTANT TO
CONSIDER THE FEATH OF THIS
GENETIC VARIATION ESPECIALLY IN
RESPECTIVE POPULATION THAT MAKE
SAFE AND EFFECTIVE MEDICINES.
AND I'D LIKE TO THANK OUR
FUNDING SOURCES.
AND THOSE WHO PARTICIPATED IN
THESE STUDIES, AND MY LAB.
AND THANK YOU.
[ APPLAUSE ]
>> WE HAD A LITTLE BIT OF A
CHANGE IN OUR FINAL PANEL AS WE
MENTIONED.
HE IS JOINING US VIA ZOOM TODAY
SO WE ARE GOING TO GET HIM
PULLED UP.
MARIO, YOU CAN SHARE YOUR SLI
SLIDES.
MARIO, CAN YOU TEST YOUR AUDIO?
>> MARIO ESTEVEZ I'M HERE.
CAN YOU HEAR ME?
I DIDN'T CATCH THAT.
I'M HOPING YOU ALL CAN HEAR ME.
SO, MARIO,EST SAYS, ORGANIZER
AND TRAINER AND A RARE DISEASE
PARENT AND ADVOCATE TO MY SON,
SEBASTIEN.
AND SO, VERY EXCITED TO BE HERE.
I APOLOGIZE THAT I'M NOT THERE
IN PERSON.
I HAD SOME MEDICAL ISSUES THIS
MORNING.
REALLY THANKFUL TO THE NIH TEAM
FOR ALLOWING ME TO ADD MY VOICE
TO THIS SPACE.
JUST BY THE DIFFICULTIES THAT I
FACED THIS MORNING.
I WILL SAY THAT I FIND MYSELF AT
THE INTERSECTION OF RARE
DISEASES, RACE AND EQUITY BY WAY
OF MY SON'S DIAGNOSIS, MY OWN
RACIALIZED EXPERIENCE IN THIS
COUNTRY AND THE WORK I DO AS A
TRAINER AND ORGANIZER FOR THE
RACIAL EQUITY INSTITUTE.
WHAT I OFTEN SAY IN THIS SPACE
IS THAT MAKES SENSE IS THAT IN
THE SAME WAY THAT I REFUSE TO
SIT IDLY BY AND WATCH MY SON
SUCCUMB TO A DEADLY DISEASE, I
ALSO REFUSE TO STILT'SY BY AND
WATCH THIS ADOPTIVE NATION OF
MINE THAT I LOVE SUCCUMB TO THE
DISEASE OF RACE ITCH.
AND SO -- RACISM.
THE RARE DISEASE SPACE IS AN
ALREADY INEQUITABLE SPACE.
WE FIND OURSELVES MINORITY OFTEN
OVERLOOKED AND SOMETIMES EVEN
EXPLOITED.
AND SO I HAVE A 3-FOLD OBJECTIVE
WHERE I'M GOING TO HIGHLIGHT
SOME OF THE SYSTEMIC FAILURES
FACED BY THOSE OF US THAT
ALREADY OCCUPY THIS UNFORTUNATE
SPACE, WITH A PARTICULAR FOCUS
ON THE TWO MOST PRESSING ISSUES,
BIOGINOSIS AND TREATMENT.
AND THEN BRIEFLY DISCUSS THE
COMPOUNDING EFFECT THAT RACE
PLAYS FOR PEOPLE OF COLOR WITHIN
RARE DISEASES.
AND THEN FINALLY, LOOK AT THE
HISTORICAL AND SCIENTIFIC ROOTS
OF THIS THING AND MAYBE WHAT
NEEDS TO BE DONE THE VERY FIRST
THING THAT NEEDS TO BE DONE IF
WE ARE REALLY TRYING TO ACHIEVE
EQUITY.
SO, THIS IS MY SON, SEBASTIEN.
HE WAS DIAGNOSED WITH HUNTER
SYNDROME WHEN HE WAS 2.5 YEARS
OLD.
ABOUT A WEEK AFTER HIS DIAGNO
DIAGNOSIS, WE CALLED THE
NATIONAL NPS SOCIETY LOOKING FOR
GUIDANCE.
I REMEMBER THE WOMAN ON THE
PHONE SOUNDING ALMOST DISTRACTED
AND EXCITED.
I THINK SHE MUST HAVE SENTENCED
MY FRUSTRATION BECAUSE SHE
PAUSED FOR A SECOND AND
APOLOGIZED AND SHE SAID, IT'S
KIND OF CRAZY OVER HERE.
TODAY WAS THE FIRST DAY THAT A
PATIENT WITH NPS WAS DOSED WITH
GENE THERAPY.
THIS IS A REALLY IMPORTANT DAY
FOR THE COMMUNITY YOU'RE NOW
UNFORTUNATELY A PART OF.
WHAT SHE SAID BARELY REGISTERED
IN THE MOMENT.
SHE DID GIVE ME SOME INFORMATION
ABOUT THE NPS CONFERENCE COMING
UP A COUPLE OF MONTHS AWAY AND
SUGGESTED MY FAMILY ATTEND.
AT THAT CONFERENCE, WE MET
MELISSA HOGAN, FORMER PRESIDENT
AND FOUNDER OF -- AN INCREDIBLY
BRILLIANT WOMAN AND ADVOCATE FOR
HER SON, CASE.
AND THERE WE LEARNED OF A GENE
THERAPY TRIAL THAT HAD
INCREDIBLE PROMISE.
HUNTER SYNDROME WAS MONOGENETIC
AND A MUTATED GENE HAD BEEN
IDENTIFIED AND A CORRECTED COPY
OF THAT GENE COULD BE
MANUFACTURED TO PRODUCE WHAT
AMOUNTS TO AS CURATIVE MEDICINE.
AND THAT THE ONLY THING THAT
STOOD IN OUR WAY WAS MONEY.
AND SO WE HAD OUR MARCHING
ORDERS.
WENT BACK TO SOUTHERN FLORIDA,
JOINED PROJECT ALIVE AND BECAME
THE FUNDRAISING CHAIR AND OUR
FAMILY GOT TO THE WORK OF
RAISING MONEY.
WE RAISED OVER A MILLION DOLLARS
IN SOUTHERN FLORIDA HOSTING
FUNDRAISERS, PARTNERING WITH
SCHOOLS AND LOCAL BUSINESSES AND
PARISHES FROM ACROSS THE GLOBE
WHO HAD A SINGULAR FOCUS WITH
RESPECT TO FUNDING THIS CURE.
AND IN 2017, WE REACHED A MAJOR
MILESTONE.
WE RECEIVED FDA APPROVAL FOR OUR
TRIAL.
THIS IS AN INCREDIBLE MOMENT FOR
OUR ORGANIZATION.
AND YET, HERE WE ARE IN 2023 AND
NOT A SINGLE CHILD DOSED.
NOW, I HAVE TO BE VERY CAREFUL
HOW I CHOOSE MY WORDS HERE
BECAUSE UNFORTUNATELY THERE
COULD BE LEGAL RAMIFICATIONS.
WHAT I WILL SAY IS THIS.
WE WERE MET WITH SYSTEMIC
FAILURES.
WE HAD DONE OUR PART AND ON THE
PART OF INDUSTRY, THEY DID NOT
KEEP THEIR PROMISE.
WE UNFORTUNATELY LOST INVALUABLE
TIME AND MONEY, UNFORTUNATELY.
WE WERE FORCED TO BREAK TIES,
CREATE NEW ONES AND THE TRIAL IS
STILL ONLY ALIVE BECAUSE OF VERY
CAREFUL AND CALCULATED
NEGOTIATION ON OUR PART TO
ENSURE THAT IT IS STILL A
REALITY.
OUR HOPE IS THAT WE WILL DOSE
THE FIRST PATIENTS WITH WHAT WE
BELIEVE TO BE CURATIVE MEDICINE
IN 2024.
WHEN OUR FAMILY WAS FIRST
LEARNED OF OUR SON'S DISEASE,
THIS MANTRA THAT THREATENED OUR
CHILD AND THE VERY NATURE OF OUR
ENTIRE FAMILY, I NEVER IMAGINED
MAYBE NAIVE EVELY, THE
INCREDIBLE CHALLENGES WE WOULD
FACE FROM THE VERY SYSTEMS AND
INSTITUTION THAT IS WE WOULD
HAVE TO RELY ON IN ORDER TO TRY
TO SAVE OUR KIDS.
NOW TO THAT END, I WANT TO TALK
ABOUT TRIALS THAT ARE CURRENTLY
IN THE CLINIC THAT SHOW
INCREDIBLE PROMISE.
THIS IS TECHNOLOGY THAT ALLOWS
FOR WEEKLY INTERVENOUS INJECTION
THAT GETS TRANSFORMATIONAL
TREATMENTS TO ALL PARTS OF THE
BODY, INCLUDING THE BRAIN.
NOW THESE TREATMENTS WILL
FOREVER CHANGE THE COURSE OF THE
DISEASE AND REALLY BECOME THE
NEW STANDARD OF CARE.
THAT'S INCREDIBLE NEWS.
IT REALLY IS SUCH GREAT NEWS FOR
OUR COMMUNITY.
WE BELIEVE THESE TREATMENTS ARE
GOING TO PROVIDE A BRIDGE TO
GENE THERAPY.
THE BAD NEWS, PUTTING IT MILDLY,
IS THAT THIS TECHNOLOGY IS
NEARLY A DECADE OLD.
AND SO WHAT IN THE HELL IS
STOPPING THIS TECHNOLOGY FROM
COMING OUT SOONER?
UNFORTUNATELY, IT'S SYSTEMIC
FAILURE AND GREED.
MAJOR BIOTECH COMPANY BOUGHT THE
RIGHTS TO THAT TECHNOLOGY WITH
THE PROMISES OF PUSHING IT TO
THE CLINIC.
THEY DID THE EXACT OPPOSITE.
THEY PURCHASED THOSE RIGHTS,
SHELVED THAT TREATMENT BECAUSE
THEY HAD A COMPETING TECHNOLOGY.
AND IN THAT DECADE OF STOLEN
TIME, THE DISEASE CONTINUED TO
PROGRESS TO THE BODIES OF OUR
CHILDREN.
AND IN KIDS WHO DID NOT NEED TO
DIE, DID.
THAT, FOLKS, IS THE MOST IN
HUMANE EXAMPLE I CAN GIVE OF
INSTITUTIONAL AND SYSTEMIC
FAILURES ON THE PARTS OF THE
VERY INSTITUTIONS WHO STATED
OBJECTIVE IT WAS TO SAVE
CHILDREN SUFFERING FROM RARE
TERMINAL DISEASES.
BRIEFLY JUST TALK ABOUT OUR
DIAGNOSTIC ODYSSEY WITH RESPECT
TO OUR SON.
AT 9 MONTHS OLD HE WAS DIAGNOSED
WITH HYDROSELFIS.
BECAUSE HUNTER SYNDROME IS NOT
SCREENED FOR AT BIRTH, WE DIDN'T
KNOW WHAT WE WERE DEALING WITH.
AND WE WERE MAKING DECISIONS
TREATING WHAT WE THOUGHT WAS THE
ROOT CAUSE OF THIS ISSUE HE HAD
WITH RESPECT TO HYDROSELFIS,
EXCESS CEREBRAL SPINAL FLUID IN
THE BRAIN.
WE SOUGHT OUT A WORLD RENOWNED
NEOSURGEON.
-- WE WERE TRYING TO AVOID
MULTIPLE BRAIN SURGERIES.
WE SOUGHT OUT THIS NEUROSURGEON
AT THE BOSTON CHILDREN'S
HOSPITAL TO HAVE WHAT WE SAID
WOULD BE A SIMPLE SURGERY.
WE WOULD BE THERE FOR A WEEK AND
GO HOME.
WHAT ENDED UP HAPPENING IS WE
WERE THERE FOR ALMOST A MONTH.
SEBASTIEN HAD TO UNDERGO THREE
BRAIN SURGERIES AND ENDED UP
WITH A SHUNT NONETHELESS.
NOW, AGAIN WE THOUGHT WE WERE
MAKING THE BEST DECISIONS FOR
OUR SON BUT WE LACKED VITAL
INFORMATION WHICH WOULD HAVE
ALLOWED US TO MAKE BETTER
DECISIONS WITH RESPECT TO HIS
HEALTH.
NOW THE HUNTER SYNDROME
COMMUNITY REALLY DOES OCCUPY
PRIVILEGED SPACE.
WE ARE IN THE MINORITY OF RARE
DISEASES THAT ACTUALLY HAS AN
FDA APPROVED TREATMENT AND HAS
SINCE 2006.
AND YET, THAT TREATMENT FINDS
ITSELF IN SEARCH OF PATIENTS.
IT'S NOT A TYPO.
YOU THINK IT'S PATIENTS IN
SEARCH OF TREATMENT?
IT'S TREATMENTS IN SEARCH OF
PATIENTS.
HUNTER SYNDROME WAS JUST LAST
YEAR ADDED TO THE REST.
THE RECOMMENDED UNIFORM
SCREENING PANEL FOR RARE
DISEASES.
AND THAT VICTORY CAME BY WAY OF
ORGANIZING.
OTHER NONPROFITS WITHIN OUR
SPACE.
THE DOCTORS AND CLINICIANS WHO
WORKED VERY HARD TO HAVE US
ADDED TO THE RUSP.
NOW THE KEYWORD WE ARE LOOKING
AT IS THE WORD, RECOMMENDED.
BECAUSE NOW WE FACE A
STATE-BY-STATE FIGHT TO HAVE
HUNTER SYNDROME BE ONE OF THE
CONDITIONS SCREENED FOR AT
BIRTH.
SO THAT PARENTS CAN REALLY START
FIGHTING THIS DISEASE BEFORE IT
DOES IRREPARABLE DAMAGE.
I WANT TO PUNCH THIS POINT.
AND THAT IS THAT EVEN IF YOU ARE
FORTUNATE TO HAVE TREATMENT,
YOU'RE LIKELY TO FACE SERIOUS
DELAYS FOR THAT TREATMENT
BECAUSE YOU'LL NOT BE PRIVY TO
THE VITAL INFORMATION WHEN YOUR
CHILD IS BORN.
I CAN'T THINK OF A BETTER
EXAMPLE OF SYSTEMIC FAILURE.
I UNDERSTAND THE DIFFICULTY
ASSOCIATED WITH ADDING DIFFERENT
DISEASES TO NEWBORN SCREENING
AND THE COST, LOGISTICS OF IT.
BUT IF THERE IS TREATMENT FOR
DISEASES, THEY SHOULD CERTAINLY
BE SCREENED FOR IT AT BIRTH.
THE NEWBORN SCREENING SAVES
LIVES REAUTHORIZATION ACT.
IS OBVIOUSLY KEY.
WE TALKED ABOUT THE DISPARITIES
WITH RESPECT TO FOLKS OF COLOR
AND THE LENGTH OF THEIR
DIAGNOSTIC ODYSSEY VERSUS THAT
OF PATIENTS OF EUROPEAN DECENT.
THE NEWBORN SCREENING SAVES
LIVES REAUTHORIZATION ACT WOULD
OBVIOUSLY HELP WITH THAT.
VERY BRIEFLY I WANT TO TALK
ABOUT THE COMPOUNDING AFFECT OF
RACE.
SOME OF THE THINGS I ALREADY
MENTIONED HERE.
EVEN THOUGH PEOPLE OF COLOR MAKE
UP 40% OF THE POPULATION, THEY
ONLY MAKE UP 16% OF RESEARCH
STUDY PARTICIPANTS.
AND ON AVERAGE, THAT 5-7 YEARS
DIAGNOSIS FOR RARE DISEASES IS
LONGING FOR COMMUNITIES OF COLOR
BECAUSE THE DISPARITIES THEY SEE
WHEN CONFRONTING THE HEALTH CARE
SYSTEM OVERALL.
THE QUESTION FOR US IS, HOW DID
WE GET HERE?
ARE THE EXPERIENCES OF PEOPLE
WITH COLOR IN THE RARE DISEASE
SPACE ANY DIFFERENT WHEN
CONFRONTED WITH OTHER FORMAL
SYSTEMS AND INSTITUTIONS IN THIS
COUNTRY?
AND DR. CUNNINGHAM MENTIONED
THIS.
THE REALITY IS THAT IT'S NOT.
WHETHER WE ARE TALKING ABOUT THE
EDUCATION SYSTEM, THE CRIMINAL
INJUSTICE SYSTEM, OR THE BANKING
AND LENDING SYSTEM.
ALL THESE DIFFERENT SYSTEMS, WE
JUST SEE THESE INEQUITIES.
I THINK IT IS IMPORTANT FOR US
TO ACKNOWLEDGE THE INCREDIBLY
SIGNIFICANT ROLE THAT THREE VERY
POWERFUL ENTITIES PLAYED IN
REALLY CEMENTING THE RACIAL
DIVIDE THAT FINDS ITSELF SO
DEEPLY ROOTED IN THE UNITED
STATES THAT IT IS TRULY A PART
OF THE GENETIC MAKE UP OF THIS
COUNTRY.
NOT BEING GOVERNMENT,
RELIGION -- THAT BEING
GOVERNMENT, RELIGION AND
SCIENCE.
NOW, WITH RESPECT TO SCIENTIFIC
RACISM, EUGENICS THEN AND NOW --
I'M NOT GOING TO SHARE SOME OF
THE DATE A WANTED TO SHARE FOR
THE PURPOSE SYSTEM OF TIME.
THE AMERICAN SOCIETY OF HUMAN
GEET INICS, LARGEST
CONGLOMERATION OF GENETICISTS
LAST MONTH APOLOGIZED FOR THE
PARTICIPATION OF SOME OF ITS
EARLY LEADERS IN THE EUGENICS
MOVEMENT.
AS WELL AS THE GROUP'S FAILURE
TO ACKNOWLEDGE AND OPPOSE OTHER
PAST HARMS AND INJUSTICES IN THE
FIELD OF GENETICS.
I'LL JUST SAY REALLY BRIEFLY SO
YOU GET A SENSE OF HOW PROFOUND
THE IMPACT OF SCIENTIFIC RACISM
HERE IN THE UNITED STATES WAS
THE WORLD OVER.
MADISON GRANT WAS AN AMERICAN
UJEN ASSIST, LAWYER, VERY
PROMINENT INDIVIDUAL.
RAN INTO VERY ELITE CIRCLES.
HUNG OUT WITH FORMER PRESIDENTS
DURING HIS TIME.
HE WROTE A BOOK, THE PASSING OF
THE GREAT RACE.
HE RECEIVED A NOTE, THIS BOOK
WAS TRANSLATED INTO DIFFICULT
LANGUAGES.
RECEIVED A NOTE FROM SOMEONE,
PROMINENT WORLD FIGURE WHO
BASICALLY SAID THIS BOOK IS MY
BIBLE.
I LOVE THIS BOOK.
IT IS MY BIBLE.
AND THAT PERSON WAS ADOLF HIT
HITLER.
SO WE GET A BASIC UNDERSTANDING
OF REALLY HOW AGAIN, THE VERY
SIGNIFICANT ROLE THAT SCIENCE
HAS PLAYED NOT JUST IN THE
UNITED STATES BUT THE WORLD
OVER.
AND SO THE ACKNOWLEDGMENT OF THE
AMERICAN SOCIETY OF HUMAN
GENETICS, OF THE ROLE OF THE
SCIENTIFIC COMMUNITY, THAT IT
HAS PLAYED REALLY SHOULD BE
APPLAUDED.
THE QUESTION THAT REMAINS IS
WHAT NEEDS TO BE DONE TO
READDRESS SOME OF THOSE
INJUSTICES?
THEN LASTLY, I WANT TO TALK
ABOUT THE ELEPHANT IN THE ROOM.
WHEN WE GET INTO THESE SPACES,
AND WE'RE HAVING CONVERSATIONS
ABOUT EQUITY AND DIVERSITY AND
INCLUSION.
I THINK FOLKS ARE VERY
COMFORTABLE TALKING ABOUT
IMPLICIT BIAS AND I THINK WE USE
THIS -- WHAT I WOULD ARGUE IS
MAYBE SOMETIMES SANITIZED
LANGUAGE TO REALLY KIND OF MAKE
US FEEL COMFORTABLE.
BUT, IF WE ARE TO GET AT THIS
THING, AT THE ROOT OF THIS
THING, WE NEED TO TALK ABOUT
WHITE SUPREMACY AND RACISM.
NOW, IF THOSE TWO WORDS MADE YOU
FEEL UNCOMFORTABLE, I FEEL YOU.
YOU'RE MY PEOPLE.
I FELT UNCOMFORTABLE JUST SAYING
THEM.
BUT I THINK IF WE ARE TRYING TO
GET AT EQUITY, THEN WE HAVE TO
DEAL WITH THE ELEPHANT IN THE
ROOM.
WHEN WE HAVE THESE DISCUSSIONS
IN THE TRAIN I THINK SO WE
CONDUCT AND WE HAVE FOLKS, WHAT
ARE THE THINGS THAT COME TO MIND
WHEN YOU HEAR THE WORD RACISM OR
WHITE SUPREMACY?
THEY WILL TELL US, HATRED OR BIG
TREE, MEAN SPIRITEDNESS, MAYBE
THE CLAN, NEONAT SEES, TIKI
TORCH CARRYING INDIVIDUALS,
ET CETERA.
AND THE SOLUTION TO THE
INEQUITIES WE SEE IS POSSIBLY
GETTING RID OF THESE RACIST
INDIVIDUALS.
BUT THEN HISTORICAL EVIDENCE
WOULD SUGGEST OTHERWISE.
THE UNDERLYING MISCONCEPTION IS
WE HAVE NOT SEEN THE GAINS WE
ANTICIPATED AFTER THE CIVIL
RIGHTS MOVEMENT BECAUSE OF THESE
BAD APPLES THAT ANCHOR CERTAIN
SYSTEMS AND INSTITUTIONS HOLDING
BACK THE PROGRESS THAT WE WOULD
HAVE OTHERWISE SEEN.
THE REALITY IS THAT THE
COLLECTIVE CONSCIOUSNESS OF THE
NATION NEEDS TO SHIFT FROM THE
UGLY INDIVIDUAL MANIFESTATIONS
OF THIS THING TO A SYSTEMIC
ANALYSIS.
I JUST WANT -- HEAR ME ON THIS.
THE MAJOR HURDLE WE FACE IS THAT
WHEN IT COMES TO THE DISEASE OF
RACISM, WE HAVE YET TO RENDER A
PROPER DIAGNOSIS.
AND THAT IS THAT SYSTEMS OF
INEQUITY ORBIT ON THEIR OWN
AXIS.
AND THE IF WE ARE TRULY TO GET
AT EQUITY, WE NEED SYSTEMS,
CHANGE AGENTSMENT.
WE CANNOT RELY ON OUTSIDE
AGITATORS.
WE NEED FOLKS WITHIN THE SYSTEMS
AND INSTITUTIONS THAT HOLD
INCREDIBLE POWER TO START TO
COLLECTIVIZE THAT POWER AND TRY
TO CHANGE THOSE SYSTEMS FROM
WITHIN.
NOW LIFTERN, SOME MIGHT AND, WHY
CAN'T WE JUST LOOK INTO THE
FUTTOWER HELP PATIENTS WITH A
MORE -- TO HAVE ACHIEVE EQUITY?
I BELIEVE YOU CAN'T CHANGE THE
SYSTEM IF YOU CAN'T SEE HOW IT
OPERATES.
AND YOU CAN'T SEE HOW IT
OPERATES UNLESS YOU LOOK AT ITS
HISTORY.
HOW IT WAS FORMED AND SHAPED
OVER TIME BECAUSE SYSTEMS
OPERATE UNDER THE SURFACE.
THROUGH INVISIBLE CODES AND
NORMS THAT OFTEN GO UNSEEN OR
TAKEN FOR GRANTED.
THAT INDEED THE WAY FORWARD IS
BACK THROUGH.
THEREFORE WE HAVE TO LOOK AT THE
HISTORICAL AND CULTURE ROOTS OF
THIS THINGS IF WE ARE TO BRING
ABOUT A MORE EQUITABLE SOCIETY,
WHETHER IN THE RARE DISEASE
SPACE, IN GENOMICS OR IN ANY OF
THE OTHER FORMAL SPACES THAT
FOLKS COME IN CONTACT WITH ON A
REGULAR BASIS.
THE SYSTEMIC AND STRUCTURAL
FAILURES I HIGHLIGHTED ARE NOT
UNIQUE TO RARE DISEASES OR
PEOPLE OF COLOR.
BUT ARE SIMPLY INDICT ITCH OF
THE REALTIES PHASE BY
MARGINALIZED GROUPS WHO CONFRONT
SYSTEMS THAT WERE NOT
CONSTRUCTED WITH THEM IN MIND.
AND THE SAME WAY THAT SYSTEMS
AND INSTITUTIONS NEED TO CHANGE
THEIR PRACTICINGS TO BRING ABOUT
EQUITY AND CARE TO RARE DISEASE
PATIENTS, ALL OF OUR SYSTEMS AND
INSTITUTIONS NEED CHANGING IF WE
ARE TO ROOT OUT THE SEISMIC
NATURE OF THE INEQUITIES THAT
ARE HURTING US ALL.
BUT BECAUSE WE HAVE YET TO
RENDER A PROPER DIAGNOSIS, WE
ARE SIMPLY TREATING THE SYMPTOMS
OF THIS THING AS OPPOSED TO ITS
ROOT CAUSES.
I REALLY APPRECIATE THE TIME AND
THE ATTENTION, THE OPPORTUNITY
TO SPEAK TRUTH TO POWER, DESPITE
MY BEING ILL THIS MORNING.
THE WORK THAT THE NIH DOES IS
INCREDIBLY IMPORTANT NOT JUST TO
THE RARE DISEASE COMMUNITY, BUT
TO THE UNITED STATES AND THE
GLOBAL COMMUNITY AT LARGE.
THANK YOU VERY MUCH FOR ALLOWING
ME TO ADD MY VOICE TO THIS SPA
SPACE.
>> THANK YOU VERY MUCH TO OUR
SPEAKERS TODAY FOR YOUR
INCREDIBLY POWERFUL AND
IMPORTANT TALKS.
SO, I SUPPOSE WE'LL OPEN UP AND
SEE IF THERE ARE QUESTIONINGS
FROM THE AUDIENCE.
IF NOT, I SUMMERY HAVE QUESTIONS
FOR THE PANEL.
>> AUDIENCE MEMBER: SO, THANK
YOU ALL FOR THIS CONVERSATION
AND MARIO, FOR YOUR STORY.
I THINK THAT ONE THING I WANT TO
SAY IS, I SEE PEOPLE INTERCHANGE
AND UNDER SERVED AND UNDER
REPRESENTED SO I'M GOING TO TELL
YOU HOW I DEFINE IT.
UNDER SERVED ARE PEOPLE WHO HAVE
BARRIERS AND LACK OF RESOURCES
WHEREAS UNDER REPRESENTED IS
ABOUT IDENTITY.
AND SO WHAT I FOUND IS THE MORE
POWERFUL STORIES ARE PEOPLE WHO
ARE UNDER REPRESENTED WHO HAVE
GREAT INSURANCE AND ACCESS BUT
THEY STILL HAVE THESE ISSUES.
AND SO I THINK THE STORIES LIKE
SERENA WILLIAMS ALMOST DYING
HAVING A BABY, IS A VERY GOOD
EXAMPLE OF THAT.
AND THE THINGS THAT I THINK DOES
HELP WITH THIS PROCESS, AND WE
TALKED ABOUT THIS THIS MORNING
ABOUT HOW PATIENTS ARE SIMILAR
TO WHAT MARIO WAS SAYING AND
THOSE FROM UNDER REPRESENTED
GROUPS HAVE SIMILAR EXPERIENCES,
BUT ONE THING THAT I FIND THAT
HELPS A LOT IS UNDERSTANDING THE
PATIENT JOURNEY.
SO EVEN WHEN HE TALKED ABOUT
FROM THE SYMPTOM TO THE
DIAGNOSIS, THIS IS WHAT
HAPPENED.
THERE IS NO ONE PATIENT JOURNEY.
AND SO, ONCE WE UNDERSTAND WHAT
ARE THE DIFFERENT WAYS THAT
PEOPLE FIND OUT HOW THEY -- WHAT
THEY HAVE AND THEN WHERE CAN WE
ACCELERATE THAT PROCESS SO THAT
IT'S NOT AN ODYSSEY?
IT'S A JOURNEY.
SO I'M WONDERING IF YOU CAN
SPEAK TO THAT.
LIKE, WHAT CAN WE DO TO FIX EVEN
THE FIRST PART, WHICH IS
DIAGNOSIS VERSUS TREATMENT?
>> THAT'S A REALLY, REALLY
EXCELLENT QUESTION AND I'LL PLUG
THAT ON MARCH 1, UNIVERSITY OF
MINNESOTA IS HAVING A RARE
DISEASE DAY EVENT.
EXCLUSIVELY ON THE DEI ISSUES
RELATED TO DIAGNOSIS AND NEWBORN
SCREENING.
SO I THINK THAT THERE IS AN
ENTIRE WORKSHOP TOMORROW ON
THAT.
BUT WITH THAT, I'LL OPEN IT UP
TO OUR PANELISTS.
I DON'T KNOW IF YOU HAVE
COMMENTS.
>> SURE, HONESTLY WHEN IT COMES
TO DIVERSE COMMUNITIES, SINCE
THEY HAVE BEEN SO UNDER STUDIED,
WE DON'T KNOW WHAT WE DON'T KNOW
YET.
SO THERE ARE TONS OF VARIANTS OF
SIGNIFICANCE FOR US TO DISCOVER.
AND THAT IS WHY I'M HOPEFUL THAT
THE NIH AND ALL THE OTHER
ORGANIZATIONS THAT FUND AND
PROMOTE THIS KIND OF RESEARCH
WILL REALLY LEAN IN ON A
DIVERSITY FUND TO MAKE SURE THAT
WE UNDERSTAND IT.
I LOVE MARIO'S COMMENTS.
I WAS ACTUALLY ON THAT TASK
FORCE FOR THE AMERICAN SOCIETY
FOR HUMAN GENETICS THAT
DELIVERED THAT REPORT.
WE WORKED IF 18 MONTHS TO GET AT
AND DO THE KIND OF ESSAY, THE
DIRTY WORK, TO UNDERSTAND THE
UGLY HISTORY OF RACISM IN THAT
ORGANIZATION.
AND REALLY GET TO A POINT OF, I
CALL IT RECONCILIATION.
I'M HOPING THAT WE CAN DO THAT.
RICK LARGE AND THE MEDICAL
COMMUNITY, WILL MAKE A LOT OF
MINORITY UNDER SERVED AND UNDER
REPRESENTED INDIVIDUALS MORE
LIKELY TO PARTICIPATE.
BUT THAT IS SOMETHING THAT --
THAT'S AN ALL HANDS ON DECK
EFFORT.
SO EVERYBODY, WHETHER YOUR FROM
THE MINORITY GROUP OR UNDER
REPRESENTED GROUP, EVERYBODY HAS
A STEAK IN THAT AND I'M HOPING
WE CARRY THAT MESSAGE AND MAKE
IT HAPPEN.
>> WE HAVE TWO MINUTES, ALL
RIGHT.
>> AUDIENCE MEMBER: I PROBABLY
DON'T FULLY UNDERSTAND, BUT SO
YOU HAVE INEQUITY AND THEN YOU
ALSO HAVE THESE RARE DISEASES
THAT ARE RARE.
AND SO WE UNDERSTAND, AT LEAST
WHERE I WORK, THAT WE NEED MORE
VOICES.
BUT WE'RE HAVING TROUBLE GETTING
THOSE VOICES.
AND I LISTEN TO TALKS LIKE THESE
AND I'M LIKE, I KNOW WHAT I
NEED, BUT HOW?
WE CAN'T JUST WALK OUT AND DO
COMMUNITY EVENTS BECAUSE THERE
MIGHT NOT BE ANYONE IN THE
COMMUNITY THAT HAS OUR SPECIFIC
DISEASE THAT ALSO IS UNDER
REPRESENTED.
AND SO HOW DO THESE SMALL
GRASSROOTS ORGANIZATIONS WITH
LIMITED BUDGETS GET THE
INVOLVEMENT THAT WE NEED?
AND NO ONE EVER REALLY SEEMS TO
HAVE MUCH OF AN ANSWER.
>> YES, I MIGHT JUST LEAD OFF BY
SAYING THERE IS A LOT OF DRIVERS
THAT LEAD TO THAT OUTCOME OF NOT
HAVING A REPRESENTATIVE GROUP AT
THE TABLE.
AND I UNDERSTAND A LOT OF THOSE
DRIVERS ARE DAUNTING.
HOWEVER, WITHIN COMMUNITIES, YOU
CAN IDENTIFY ARE THERE EFFORTS
THAT YOU CONTRIBUTE TO IMPROVE
EQUITABLE DIAGNOSIS FOR YOUR
CONDITION?
YOU CAN LOOK IN TERMS OF -- IT
IS BUILT OFF SOME OF THE IDEAS
THAT MARIO BROUGHT UP, BUILDING
COALITIONS AND BUILDING
COMMUNITIES SO THAT WHEN THERE
ARE TOPICS THAT ARE LARGER THAN
ONE RARE DISEASE, CAN THE ENTIRE
RARE DISEASE COMMUNITY ADDRESS
THEM IN WHOLE?
AND ALSO ADVOCATING FOR THE
SMALL THINGS.
I THINK OFTEN IN THESE KIND OF
WORKSHOP ENVIRONMENTS, WE HEAR A
LOT OF THE POTENTIAL MEASURES
THAT CAN BE TAKEN TO IMPROVE
REPRESENTATION AND ENGAGEMENT,
WHETHER THAT'S TRANSLATING YOUR
WEBSITE, WHETHER THAT'S MAKING
SURE THAT YOU'RE HAVING FREE
REGISTRATION OPTIONS SO THAT
MONEY IS NOT A BARRIER TO
ATTENDING YOUR EVENTS.
AND SO FORTH.
BUT TRYING TO LOOK INTO THOSE
SORT OF PRE-IDENTIFIED MEASURES
IS ALSO ANOTHER WAY THAT
COMMUNITIES CAN DRIVE THIS
FORWARD.
I DEFINITELY RECOGNIZE AND HEAR
WHAT YOU'RE SAYING BUT BECAUSE
THESE ARE MULTI-LAYERED
PROBLEMS, THERE IS NOT A SILVER
BULLET SOLUTION.
IT'S COMMITTING TO 20 TO 30
SOLUTIONS TO SEE THE OUTCOME
THAT YOU WANT.
I'M INTERESTED IN MARIO'S
THOUGHTS ON THAT QUESTION.
>> MARIO ESTEVEZ: OUR BOARD IS
REALLY DIVERSE.
AND AM I NOT ON AUDIO?
CAN YOU HEAR ME?
>> I CAN HEAR YOU, MARIO.
I'M NOT SURE IF THEY CAN IN THE
AUDITORIUM.
>> I THINK LIKE TO ME, THERE IS
LIKE TWO CONCEPTS THERE AT PLAY.
I THINK AT FIRST IT'S ONE OF
FEASIBILITY AND THEN EVENTUALLY
EQUITY.
SO I THINK THAT IN LIKE MANY
YEARS AGO FOR EXAMPLE FOR GENE
THERAPIES AND GENOME EDITING, IT
WASN'T TECHNICALLY FEASIBLE TO
BE ABLE TO ADDRESS
[ INAUDIBLE ]
IF IT BECOMES POSSIBLE TO HAVE
MORE PATIENTS AND MUTATIONS, CAN
WE DO THIS IN A WAY THAT IS
BROADLY EQUITABLE?
>> I'LL ADD ONE COMMENT ABOUT
THE DIVERSITY PIECE BECAUSE THE
DISEASE YOU WORK ON, SICKLE CELL
DISEASE IT'S A GENETIC DISORDER.
WE KNOWN IT FOR A LONG TIME AND
PRE DOMESTIC LET EFFECTS PEOPLE
OF AFRICAN DECENT.
IT WILL BE CURED IN OUR
LIFETIME.
I'M BANKING ON YOUR WORK.
BUT WHAT IS REALLY EXCITING FOR
ME IS THAT, THAT WILL BE AN
EXAMPLE OF US CURING A GENETIC
DISEASE.
I DON'T KNOW IF YOU CALL IT AS
RARE -- I GUESS IT STILL IS.
BUT IN A MINORITY POPULATION
THAT IS AFFECTED AND THAT SHOULD
GIVE PEOPLE OF COLOR VERY
EXCITED AND IT SHOULD MAKE YOU
WANT TO KNOW WHAT YOUR STATUS
ASK.
RIGHT?
SO INACCURATING MORE EXAMPLES
LIKE THESE AND THEN ALSO MAKING
SURE THAT AS THAT RESEARCH CURSE
AND NEW GENERATIONS OF IT GET
DONE -- OCCURS, PEOPLE ARE OF
COLOR ARE INVOLVED THROUGHOUT
THE MESSAGE AND IT WILL FORCE
MULTIPLY THAT MESSAGE.
>> AND I DO THINK WE ARE OUT OF
TIME NOW.
I WISH WE COULD TAKE YOUR
QUESTIONS.
THANK YOU ALL SO MUCH.
IT WAS A REAL PLEASURE.
[ BREAK ]
WE ARE GOING TO KEEP MOVING
FORWARD.
WE ARE ON NUMBER 3.
I'M WHERE THERE IS RESEARCH
THERE IS HOPE.
MARCELLA IS A STAFF CLINICIAN
HERE AT NIAMS NIH AND MICHAEL IS
THE DIRECTOR AND VICE-CHAIR OF
THE RE-- FOUNDATION.
RELAPSING POLYCHONDRITIS
FOUNDATION.
>> I'M VERY HAPPY, EXCITED TO BE
HERE TODAY TO GIVE YOU THIS
TALK.
AGAIN MY NAME IS MARCELA
FERRADA.
I'M A STAFF CLINICIAN AT NYE
ALPS AND I ALSO HAVE A RARE
DISEASE.
-- NIAMS.
I'M TRULY HONORED.
SO THE TITLE OF OUR TALK IS,
WHERE THERE IS RESEARCH, THERE
IS HOPE.
AND MOST IMPORTANTLY IS THAT WE
HAVE RESEARCH.
I HAVE NO FINANCIAL DISCLOSURES
BUT I DO WANT TO SAY, I AM
EMOTIONALLY ATTACHED TO THIS
INSTITUTION AND YOU'RE GOING TO
SEE WHY THROUGH MY PRESENTATION.
SO THAT'S SUPPOSED TO BE ME
STANDING THERE AT THE END OF THE
STORM.
SO I FINISHED MY TRAINING IN
CRITICAL CARE AND INFECTIOUS
DISEASES AND THEN I WAS JUST
THINKING YOU KNOW, YOU GO ON
WITH YOUR LIFE, YOU'RE DONE WITH
ALL OF THIS YEAR'S TRAINING BUT
UNFORTUNATELY, THERE WAS A BIG
STORM COMING AFTER ME AND THE
NAME OF THAT STORM IS RELAPSING
POLYCHONDRITIS.
AND IT IS A RARE DISEASE THAT
LIKE MANY OTHER PEOPLE IN FACT,
MORE THAN 30 MILLION AMERICANS
EXPERIENCE.
THERE IS MORE THAN 10 MILLION
RARE DISEASES.
SO THIS STORM THAT COME AFTER US
IS SOMETHING THAT IS GOING TO
CHANGE HOW OUR LIVES ARE
FOREVER.
OUR LIVES AND THE LIVES OF OUR
FAMILY MEMBERS AND EVERYBODY
THAT IS AROUND US.
AND CARE FOR US.
SO I WANTED TO TAKE THE
OPPORTUNITY, OF COURSE, BECAUSE
WE HAVE OUR RARE DISEASE, THEN
YOU WANT EVERYBODY TO KNOW ABOUT
YOUR DISEASE, RIGHT?
SO THEN YOU WILL BE IN AT LEAST
LIKE A LITTLE BIT OF KNOWING
YOU.
LIKE IF I'M IN AN AIRPORT OF
AIRPLANE, I WILL SAY DO YOU WANT
TO KNOW ABOUT RELAPSING
POLYCHONDRITIS.
IT IS SYSTEMIC INFLAMMATORY
DISEASE THAT IS RARE THAT
EFFECTS THE CARTILAGE AND IT HAS
DIFFERENT SYMPTOMS BETWEEN THE
PATIENTS.
THAT MEANS THAT THE CLINICAL
REPRESENTATIONS ARE VERY
VARIABLE AND THE PROBLEM WITH
THIS IS THAT THE DIAGNOSIS IS A
CLINICAL DIAGNOSIS AND BECAUSE
THE SYMPTOMS ARE SO DIFFERENT IS
THAT THEY ARE DIFFICULT TO MAKE
LIKE MANY RARE DISEASES.
YOU GUYS PROBABLY HAVE THE SAME
EXPERIENCE.
AND THEN BASED ON THIS, WE ALSO
SINCE THE BEGINNING WHEN WE
START STUDYING THE DISEASE, WE
REALIZE THAT THIS WAS ALREADY
MORE THAN ONE CONDITION.
LIKE THE CAUSE OF THE DISEASE
WAS LIKE MORE THAN ONE.
AND IN HERE, I WANT TO SHOW YOU
THE ORGAN INVOLVEMENT IN
RELAPSING POLYCHONDRITIS IN
GENERAL T EFFECTS THE CARTILAGE.
SO IN THE EAR AND THE NOSE AND
THE AIRWAY BECAUSE YOU HAVE A
LOT OF CARTILAGE IN THE AIRWAY.
THE INNER EAR, WHICH IS GOING TO
GIVE YOU HEARING LOSS.
THE EYES AND THE JOINTS IN ALL
OF YOUR BODY.
NOW THESE ARE THE MAIN SYMPTOMS
BUT AS I WAS SAYING BEFORE, THE
CLINICAL MANIFESTATIONS COULD BE
VERY DIFFERENT AND THEN IT IS
VERY SYSTEMIC.
SO IT CAN EFFECT MANY OTHER
ORGANS THAT WE ARE DISCOVERING.
SO, WHAT HAPPENS WHEN YOU HAVE
RARE DISEASE?
SO BEFORE YOU HAVE A RARE
DISEASE, WE ALL HAVE
EXPERIENCES.
OR HAVE YOU NO IDEA WHAT IS
GOING ON.
HOW I HAVE THESE SYMPTOMS?
NOBODY CAN TELL YOU WHAT IT IS?
ALL THE DOCTORS GIVE YOU
DIAGNOSIS AND THEN ANOTHER ONE
AND THEN HAVE YOU NO IDEA WHO IF
GOING TO TREAT YOU.
OR DIE.
OR YOU HAVE NOTHING, THIS IS ALL
IN YOUR HEAD.
WHAT HAPPENS WHEN YOU GET
DIAGNOSIS, IT'S KIND OF LIKE THE
SAME EXPERIENCE WITH THE ERRORS
BECAUSE YOU GET A DIAGNOSIS AND
YOU'RE LIKE, OKAY, FINALLY, I
HAVE A DIAGNOSIS.
CRATE.
AND THEN YOU GO AND LOOK IT UP
AND THEN YOU REALIZE THAT THIS
IS A RARE DISEASE.
AND THEN YOU'RE LEFT OKAY, NOW
WHAT DO I DO WITH IT?
NOW I HAVE A RARE DISEASE.
THERE IS NO OTHER RESEARCH.
WE DON'T KNOW WHAT TO DO ABOUT
IT.
HOW DO YOU TREAT IT?
HOW MANY DOCTORS IN THE WORLD
THAT CAN TREAT MY RARE DISEASE?
WHERE DO I GO FROM HERE?
HERE I POSTED SOME RESOURCES
THAT I THINK THAT ARE VERY
USEFUL WHEN YOU GOET
DIAGNOSEDDED WITH A RARE
DISEASE.
OF COURSE I AM EMOTIONALLY
BIASED SO I HAVE TO PUT IT
FIRST.
ALSO VERY, VERY USEFUL.
AND THEN THE FOUNDATIONS.
SO IF YOU HAVE A RARE DISEASE, I
BET THERE IS GOING TO BE A
FOUNDATION AND IF NOT, THEN YOU
CAN CREATE ONE BECAUSE IT'S
EXTREMELY HELPFUL FOR THE
PATIENTS AND FOR THE OVERALL
UNDERSTANDING OF THE DISEASE IN
TEACHING AWARENESS AND
EVERYTHING.
THIS IS AN EXAMPLE TO ME
VASCULITIS FOUNDATION OF A VERY
GOOD FOUNDATION.
AND THEN THE OTHER PART THAT IS
VERY IMPORTANT FOR RESEARCH IS
THAT THE ONLINE SUPPORT GROUPS.
AND THAT FOR ME, WAS SUPER
HELPFUL BECAUSE THEN YOU CAN
RELATE TO OTHER PEOPLE THAT HAVE
YOUR SAME EXPERIENCE.
BEFORE DOING ANYTHING, YOU'RE AT
NEW LINE.
SO SO MANY THINGS ARE GOING
THROUGH YOUR HEAD DESPITE HAVING
THE KNOWLEDGE, DESPITE KNOWING
WHAT IS GOING TO HAPPEN, YOU
WOULD BE MEETING PEOPLE THAT
HAVE GONE THROUGH THE SAME
PROCESS THAT CAN GUIDE YOU AND
CAN TEACH YOU AND MAKE YOU FEEL
BETTER.
SO THEN AFTER YOU GET
DIAGNOSEDDED WITH A RARE DISEASE
THEN WHAT HAPPENS?
I THINK YOU GO THROUGH THE
GRIEVING PROCESS.
AND IN MY OPINION, YOU NEED TO
HAVE MORE THAN FIVE THINGS TO BE
ABLE TO MOVE FORWARD.
SO YOU GO -- THIS IS WHERE THEY
TEACH YOU IN MEDICAL SCHOOL.
THEY SAY DENIAL, WHY ME?
AND THEN ANGER.
I HATE THE WORLD!
AND THEN WHY IS THIS HAPPENING?
I PROMISE I'LL DO THIS AND DON'T
EAT CHOCOLATE AND YOU TAKE THE
DISEASE AWAY FROM ME.
AND THEN DEPRESSION, WHICH IS
EXTREMELY HARD AS A PATIENT TO
GO THROUGH ALL YOUR EMOTIONS AND
EVERYTHING THAT IS HAPPENING.
PLUS YOU KNOW, I TOOK THE
EMOTIONS OF HAVING A RARE
DISEASE, STEROIDS.
AND THEN TELL ME HOW DID THE
DEPRESSION PHASE GO?
THEN YOU GO INTO ACCEPTANCE.
AND THEN YOU ACCEPT THAT YOU
HAVE THE DISEASE BUT ON TOP OF
THAT, A VERY IMPORTANT ASPECT OF
THIS IS FEAR BECAUSE THE FEAR OF
THE UNKNOWN AND WHAT IS GOING TO
HAPPEN.
AND I THINK THAT IS SOMETHING
THAT WE ALL GO THROUGH.
BUT YOU HAVE TO MOVE FORWARD
BECAUSE YOU NEED TO CONTINUE
WITH YOUR LIFE.
AND THEN, IF IT IS NOT YOU, THE
PERSON THAT HAS THE RARE DISEASE
OR THE PERSON YOU LOVE, YOU ALSO
HAVE TO CONTINUE WITH YOUR LIFE.
HOW ARE YOU GOING TO DO THAT?
YOU KNOW THE DISEASE ISN'T GOING
TO GO AWAY.
IT'S SOMETHING YOU ARE GOING TO
HAVE FOR THE REST OF YOUR LIFE.
SO YOU HAVE TO DEAL WITH IT.
AND DEAL WITH THE BEST YOU CAN
FOR YOU, YOUR FAMILY AND THE
PEOPLE THAT LOVE YOU.
SO IN MY JOURNEY, I FOUND THREE
MAGIC WORDS.
THOSE WORDS ARE HOPE, GRATITUDE
AND PURPOSE.
AND I THINK THAT THIS IS VERY
IMPORTANT ON A DAILY BASIS
BECAUSE WHEN YOU HAVE A RARE
DISEASE, YOU'RE GRIEVING
STAGEOOSE - YOU GRIEF AND YOU'RE
DYING.
THIS HAPPENS ALL THE TIME.
ALWAYS.
AND THEN YOU GET VERY SICK AND
HOSPITALIZED AND THEN YOU GO
AGAIN.
SO IT'S LIKE SOMETHING YOU HAVE
TO THINK ABOUT LIKE ALMOST ON A
DAILY BASIS TO BE ABLE TO MOVE
WITH YOUR LIFE.
TODAY, WE ARE GOING TO TALK
ABOUT HOPE.
AND WHAT IS HOPE?
HOPE IS THE BELIEF THAT THE
FUTURE WILL BE BETTER BECAUSE WE
HAVE THE POWER TO MAKE IT
HAPPEN -- THE POWER WENT AWAY!
SO WE HAVE THE POWER TO MAKE IT
HAPPEN, RIGHT?
WE HAVE THE POWER.
SO THAT IS THE WHOLE THING OF
HOPE THAT YOU HAVE THE POWER AND
YOU CAN MAKE IT HAPPEN.
SO THIS PICTURE IS VERY
IMPORTANT TO ME.
THIS TALK IS VERY IMPORTANT TO
ME OVERALL BECAUSE LIKE A COUPLE
OF WEEKS AGO, I WAS LOOKING AT
ONE OF THE PAGES AND ONE OF THE
BEIGES -- PATIENTS WAS VERY,
VERY SICK.
SHE POSTED A PICTURE WITH HER
FIST LIKE THIS.
AND THAT, TO ME, DEMONSTRATED
STRENGTH.
I'M POWER!
SO I ASK MY FRIENDS TO SEND
PICTURES WITH THE FIST AND THEN
WE ALL HAVE THE POWER.
SO MY POWER, WHAT I DID TO --
WHEN I FINISHED MY CARE IN
INFECTIOUS DISEASES FELLOWSHIP I
DIDN'T KNOW WHAT TO DO.
I GOT DIAGNOSED AND I'M LIKE WE
HAVE TO FIGURE IT OUT.
I REALIZED I NEEDED TO DO
SOMETHING ABOUT IT.
AND THE BEST WAY FOR ME WITH MY
BACKGROUND TO HELP WAS TO HELP
PATIENTS WITH RELAPSING
POLYCHONDRITIS AND DO RESEARCH.
HOW IS IT I'M GOING TO DO THAT?
I'M NOT CRITICAL CARE INFECTIOUS
DISEASE PEOPLE.
I DON'T KNOW ANYTHING ABOUT
JOINTS OR ANYTHING LIKE THAT.
SO I REALIZED THAT I DID NOT
HAVE THE KNOWLEDGE TO DO THIS.
BUT THEN I TOOK WITH THESE
WONDERFUL PEOPLE THAT WERE
EXTREMELY SUPPORTIVE AND
EMPOWERING AND THEY WERE LIKE,
YOU KNOW YOU CAN DO IT.
LET'S DO IT.
AND I WAS OKAY, GO AHEAD AND DO
IT.
AND THEN I WAS EXTREMELY LUCKY
TO BE ABLE TO JOIN THE NATIONAL
INSTITUTE OF ARTHRITIS AND
MUSCULOSKELETAL AND SKIN
DISEASES AND FEEL EXTREMELY
WELCOME IN THAT INSTITUTE.
AND I DECIDED
[ INAUDIBLE ]
SO IF YOU ASK ME WHICH TYPE OF
DOCTOR I AM, GYM GOING TO
ANSWER, IT'S VERY CONFUSING.
-- THROUGH MY JOURNEY I MET
AMAZING PEOPLE THAT THE PERSON
THAT HAS HELPED A LOT WITH THIS
LIKE THE MAIN CHARACTER THAT
MADE ALL OF THIS HAPPEN IS MY
MENTOR.
SO DURING MY FELLOWSHIP UNDER
HIS VASCULAR -- WE WERE ABLE TO
CREATE THE FIRST COHORT OF
PATIENTS WITH RELAPSING
POLYCHONDRITIS.
SO NOW WE HAVE PROUDNESS.
THE FIRST PERSPECTIVE COHORT OF
PATIENTS WITH RELAPSING
POLYCHONDRITIS.
THANK YOU.
AND THEN THIS IS THE MAIN GROUP
BUT OUR COHORT IS
MULTIDISCIPLINARY SO WE HAVE A
LOT OF DIFFERENT SPECIALTIES
WITH OUR PATIENTS BECAUSE THIS
IS A SYSTEMIC DISEASE.
AND THEN WE REALIZED, AND I
THINK THIS IS VERY IMPORTANT
POINT, THAT WE NEED TO WORK AS A
TEAM.
YOU NEED TO WORK AS A TEAM.
SO IT'S -- YOU HAVE TO WORK WITH
OTHER PEOPLE.
INTERNATIONALLY.
BECAUSE THIS IS A RARE DISEASE.
SO WE WERE ABLE TO CREATE THE
INTERNATIONAL RELAPSING
POLYCHONDRITIS RESEARCH NETWORK
AND THEN WE ALSO WITH A LITTLE
HELP, WHERE WE HAVE DIFFERENT
MEETINGS TALKING ABOUT
PARTICULAR PROJECTS THAT ARE
GOING TO HELP US WITH ADVANCING
THE KNOWLEDGE AND RELAPSING
POLYCHONDRITIS AND THEN
COLLECTING DATA FROM UPENN AND
MAYO CLINIC.
AND THIS IS FIRST FROM OUR
COHORT.
BUT WE BASICALLY IDENTIFIED
THREE DIFFERENT TYPES OF
RELAPSING POLYCHONDRITIS BASED
ON THE CLINICAL MANIFESTATIONS
AND ALL OF THEM WERE ON THE TYPE
THREE, THE ONE THAT HAS THE MORE
DIFFERENCES BETWEEN THE CLINICAL
MANIFESTATIONS.
SO THIS IS WHAT HAPPENED.
WE IDENTIFIED A NEW DISEASE, A
NEW DISEASE CALLED VEXAS, WHICH
IS AMAZING.
LET ME TELL BUT THIS.
SO THIS DISEASE -- IN 200020 AND
THE PERSON THAT LED THE
MOLECULAR DISCOVERY OF THIS WAS
DAVID BECK AT NYU BUT HE WAS
WORKING WITH AT NHGRI AND
[ INAUDIBLE ]
BASICALLY, WE DISCOVERED
RELAPSING POLYCHONDRITIS IN 80%
OF THE PATIENTS.
HERE THIS IS ALL THE CLINICAL
MANIFESTATIONS.
SO BASICALLY WITH VEXAS WE WERE
ABLE TO IDENTIFY GENETIC CAUSE
FOR RELAPSING POLYCHONDRITIS,
WHICH IS PRETTY AMAZING
[ INAUDIBLE ]
SO WHAT ARE THE IMPLICATIONS OF
VEXAS?
FINDING MUTATIONS THAT COULD BE
INFLAMMATORY DISEASES IN THE
ADULT POPULATIONS AND MORE
RECENTLY, WE FOUND THAT ONE IN
1000 MEN HAVE VEXAS.
AND SINCE THEN THERE HAS BEEN A
LOT OF INTERESTS INTERNATIONALLY
AND WORKING ACTIVELY IN THESE
PATIENCE AND THEN WE HAVE BEEN
HERE AT NIH AND THEN THIS IS
VERY IMPORTANT.
WE HAVE CLINICAL TRIAL AND THIS
IS THAT TRIAL THAT COULD BE
CURATIVE FOR PATIENTS WITH VEXAS
AND THE THIS IS LED BY -- SO I'M
JUST GOING TO GO BACK AGAIN TO
THE DEFINITION OF HOPE.
THERE IS WAY MORE WAYS TO HAVE
THAT POWER.
THERE ARE OTHER WAYS AND I'M
GOING TO LET MY FRIEND TALK
ABOUT THE OTHER TOOLS THAT YOU
CAN USE FOR POWER.
>> THANK YOU, MARCIE.
SO AS YOU CAN TELL, MARCIE IS
ONE OF THE MOST INSPIRING PEOPLE
THAT I HAVE HAD THE GOOD FORTUNE
TO MEET.
AND I THINK SHE IS JUST AN
EXCELLENT EXAMPLE OF NIH.
SO WHEN YOU GET A DIAGNOSIS,
FAMILY DIAGNOSIS WITH THE RARE
DISEASE, IT IS A SHOCK JUST AS
MARCIE HAD SHOWN.
SO I GOT TO THE SAME PLACE WITH
MARCIE A SLIGHTLY DIFFERENT
ROUTE.
MY SISTER WAS DIAGNOSED.
SHE WAS A RETIRED NURSE AND WE
COULDN'T REALLY FIND ANY
RESEARCH THAT WAS MORE CURRENT
THAN THE 1920s.
AND SO, WE REALIZED WE HAVE TO
DO SOMETHING.
JUST LIKE THE PANELISTS BEFORE
US THAT SAID IT'S VERY DIFFICULT
AND COMPLICATED.
IT IS VERY DIFFICULT AND
COMPLICATED AND THERE IS NO EASY
SOLUTION.
BUT TO DO NOTHING IS NOT
ACCEPTABLE.
SO IT'S ONE STEP AT A TIME.
LIKE CLIMBING A MOUNTAIN, YOU
HAVE TO DO IT ONE STEP AT A
TIME.
WE HAD THE GOOD FORTUNE TO MEET
MARCIE AND TO MEET HER TEAM.
SO WHEN WE STARTED, I GOT TO
HOPE STARTING WITH PURPOSE WHEN
MY SISTER WAS DIAGNOSED.
I SAID BEFORE I DIE, I WANT TO
DO EVERYTHING IN MY POWER TO TRY
TO GET SOME RESEARCH DONE.
OPTIMISTICALLY, I THOUGHT I HAD
ABOUT A 5-10% CHANCE.
THEN I MET MARCIE, DR. GRAYSON
AND THE INCREDIBLE STAFF HERE.
AND THAT GAVE US HOPE.
IF YOU WOULD HAVE TOLD ME FIRST
TIME I WAS HERE WAS 2016.
SO YOU ARE ALREADY IN THE RIGHT
SPOT.
AND THE TALENT HERE IS
EXTRAORDINARY, NOT JUST BETWEEN
THESE WALLS BUT IN THE
COLLABORATION.
SO WHEN WE GOT STARTED, WE FOUND
AMAZING TALENT HERE FROM
TOP-TO-BOTTOM.
WE ALSO FIGURED OUT WHAT DO WE
DO?
HOW DO WE TRY THIS?
HOW DO WE DO TRIAL AND ERROR?
WE FOUND FRIENDS AND PATIENTS OF
NIH.
THEY HELPED US SET UP THE TRAVEL
PROGRAM TO HELP GET PATIENTS
HERE TO DO THE RESEARCH TO GET
THAT LARGE COHORT.
AND I JUST REMEMBER WHEN DR.
DR. GRAYSON AND DR. FERRARI TOLD
US THEY HAD 100 PATIENTS.
IT SEEMED LIKE A MILLION.
WHICH WAS GREAT.
THAT WILL WASN'T THAT MANY YEARS
AGO.
SO YOU'RE IN THE RIGHT SPOT.
AND I THINK THAT EVERYBODY HAS
AN OPPORTUNITY TO DO SOMETHING
THAT COULD BE A SOCIAL MEDIA
POST.
IT COULD BE A FUNDRAISER, A
BIRTHDAY FUNDRAISER, WHATEVER IT
IS.
WE ALL HAVE THE ABILITY TO DO
SOMETHING.
AND WOULD JUST ENCOURAGE YOU,
HAVE YOU ALREADY TAKEN A BIG
STEP.
YOU'RE HERE.
YOU'RE IN THE RIGHT SPOT.
AND SO, WE WENT AND THIS -- THEY
DID WAY MORE THAN THAT.
THEY INTRODUCED US TO PEOPLE ALL
OVER THE WORLD.
THEY INTRODUCED US TO THE PEOPLE
IN THE VASCULITIS FOUNDATION,
THEY INTRODUCED US TO PEOPLE WHO
HELPED US DECIDE HOW DO WE
RECONFIGURE AND SET UP
FOUNDATIONS?
WHAT IS OUR ROLE?
WE HAVE THE RESEARCHER'S ROLE.
WE HAVE THE PATIENT ROLE AND
FAMILY ROLE.
WHAT DO WE DO TO FACILITATE IT?
THIS IS AN EXCELLENT PLACE
BECAUSE AT NIH THEY TURN
DISCOVERIES INTO HEALTH.
AND THAT IS A HECK OF A MISSION.
IT'S A LONG, DIFFICULT MISSION
AND PEOPLE ARE SUFFERING.
BUT, FROM THE TIME THAT WE FIRST
STEPPED IN HERE TO WHAT IS
REALLY HAPPENING, THEY HAVE
PROVEN THEMSELVES.
WE HAVE A LOT OF WOOD TO CHOP.
WE HAVE A LOT OF STUFF TO DO.
BUT THAT WAS LESS THAN THREE
YEARS AGO.
THEY DISCOVERED A BRAND NEW
DISEASE.
THEY ARE ALREADY DOING BONE
MARROW TRANSPLANTS THAT ARE
SAVING LIVES.
SO, I STARTED WITH PURPOSE, THAT
WAS A FAMILY PERSONAL
COMMITMENT, BUT AS SOON AS I MET
MARCIE AND SHE SAID, WHERE THERE
IS RESEARCH THERE IS HOPE.
THAT IS REALLY THE TRUTH.
SO YOU'RE IN THE RIGHT SPOT
HERE.
I'M NOT A RESEARCHER.
YOU MAY NOT BE A RESEARCHER, BUT
THIS IS WHERE THE TALENT IS.
SO WITH THE HELP OF NIH, WE WERE
ABLE TO SET UP THE CENTER AT THE
UNIVERSITY OF PENNSYLVANIA.
WE SET UP DIFFERENT BIOBANKS.
AND WE WERE ABLE TO DO A
TREMENDOUS NUMBER OF OTHER
THINGS.
SO INDICATIVE OF THIS PLACE AND
DR. FERARA, SHE IS GRACIOUSLY
SHARING THE STAGE WITH US.
SHE TAKES PATIENTS AND FAMILY
MEMBERS WITH HER.
SHE IS JUST ONE EXCELLENT
EXAMPLE.
WE HAVE SEEN THE SAME THING WITH
DR. GRAYSON, DR. QUINN, GOOD
SPEED.
THIS IS AN EXTRAORDINARY PLACE.
SO FOR THOSE OF YOU WHO ARE
HAVING A DIFFICULT TIME, I
UNDERSTAND IT.
BUT THERE IS HOPE AND WE BELIEVE
THAT THAT HOPE IS AROUND
PURPOSE.
SO I WANT TO THANK YOU FOR THE
OPPORTUNITY.
I WANT TO GIVE YOU THE
ENCOURAGEMENT.
WHAT WE DID ON THE RP SIDE, WE
BELIEVE IS APPLICABLE TO ANY
RARE DISEASE.
YOU HAVE TO BE NIMBLE.
YOU HAVE TO TRY.
AND I ALSO WANT TO DO -- I JUST
WANT TO THANK MY FELLOW BOARD
MEMBERS, MY SISTER, NANCY, THE
PRESIDENT OF THE FOUNDATION,
DAVID AND OUR NEW MEMBER OF THE
BOARD, WHO IS SUCCESSFUL AND A
GREAT ADDITION.
FRAN SCREENY AS WELL AS I LIKE
TO THANK MY BROTHER-IN-LAW WHO
WHEN WE PUT PROPOSALS FORWARD
AND GOT REJECTED, HE SAID, WHY
DON'T WE DO IT ANYWAY?
I THOUGHT WHAT A MAGICAL WAY TO
DO IT.
IT REMINDS ME OF DR. FER ADDA
AND GRAYSON.
WHERE THERE IS RESEARCH THERE IS
HOPE.
I DON'T KNOW OF ANY PLACE THEY
HAVE MORE RESEARCH THAN HERE.
THANK YOU.
>> WE ARE ALMOST DONE.
I WANTED TO JUST SHOW YOU THE
LIST OF ACCOMPLISHMENTS FROM OUR
TEAM AND COLLABORATION FROM 2017
TO 2023.
SO WE DID THE FIRST PERSPECTIVE
COHORT OF PATIENTS AND THEN WE
HAVE SEEN MORE THAN 100
PATIENTS.
WE ALSO CREATED THE PROGRAM THAT
HAS BEEN FROM THE VASCULITIS
FOUNDATION NETWORK AND THE
FOUNDATION.
WE CREATED THE INTERNATIONAL
RESEARCH NETWORK WHICH WE ARE
WORKING ON OTHER PROJECTS.
WE WERE ABLE TO PARTICIPATE IN
THE VEXAS SYNDROME.
ALSO PARTICIPATING IN THE
POTENTIALLY CURATIVE TREATMENT
HERE AT NIH AND THEN OF COURSE
THE RP FOUNDATION CONTINUES TO
PROMOTE AWARENESS AND RESEARCH
AND EVERYTHING THAT CAN BE
HELPFUL FOR SOME OF THE
PATIENTS.
SO THIS IS A -- I HAVE TWO MORE
SLIDES.
BUT I JUST WANTED TO AGAIN
HIGHLIGHT THAT YOU HAVE THE
POWER.
YOU HAVE THE POWER TO HAVE HOPE
AND THEN YOU CAN MAKE THAT A
REALITY.
AND IT DOESN'T MATTER HOW LITTLE
YOU DO.
YOU COULD BE -- AND I UNDERSTAND
THERE ARE DAYS THAT ARE HORR IB,
LIKE WHAT AM I GOING TO DO
TODAY?
BUT IF YOU JUST DO A LITTLE BIT
ONE DAY, THAT IS SOMETHING YOU
CAN CONTRIBUTE.
AND JUST GUIDE SOMEONE THAT HAS
YOUR SAME DISEASE.
THERE ARE SO MANY THINGS YOU
COULD DO TO MAKE THAT A REALITY.
AND THEN JUST TO HIGHLIGHT THAT
THAT REALITY LOOKS MORE LIKE
THIS.
IT LOOKS LIKE YOU HAVE A TEAM,
AN ARMY, A BUNCH OF PEOPLE THAT
WANT TO WORK WITH YOU AND WANT
TO HELP YOU.
AND THEY ALL WANT TO HELP YOU.
I MEAN, I THINK THAT WE ARE ALL
HUMANS.
WE LIKE TO HELP OTHER HUMANS,
RIGHT?
SO I THINK THAT YOU HAVE THE
POWER.
AND IT'S IMPORTANT TO TAKE
ACTION AND ENGAGE AND
PARTICIPATE IN RESEARCH AND
AWARENESS.
>> THANK YOU, MARCIE.
AS YOU CAN SEE, THIS IS THE
SLIDE OF SOME OF THE PATIENTS WE
LOST MORE RECENTLY.
AND IT'S HARD BUT ANOTHER THING
I LEARNED HERE AT NIH IS EXACTLY
HOW MUCH THE RESEARCHERS TRULY
APPRECIATE THE PATIENTS.
AND DR. GRAYSON LOOKED AT ME A
FEW YEARS AGO AND SAID, AND
MARCIE SAID IT A SLIGHTLY
DIFFERENT WAY.
WITHOUT PATIENTS, THERE ISN'T
ANY RESEARCH.
SO I LOVE THE RESPECT THAT THEY
HAVE FOR PATIENTS AND FOR FAMILY
MEMBERS AND WE APPRECIATE YOUR
SUPPORT HERE TODAY.
THANK YOU NIH, THANK YOU MARCIE.
[ APPLAUSE ]
>> THANK YOU FOR SHARING YOUR
STORY.
THAT WAS REALLY POWERFUL.
WE ARE NOT TAKING ANY QUESTIONS
BECAUSE RUNNING A LITTLE BEHIND
AND WE HAVE TO GET THE AV ISSUE
FIXED FOR OUR SESSION 4.
WE WILL HAVE VIRTUAL SPEAKERS
THERE TOO SO HOPEFULLY EVERYONE
UNDERSTANDS WE ARE GOING TO TAKE
A BREAK UNTIL 3:25.
THANK YOU, EVERYONE.
I'M PANGKONG FOX, THE
SCIENCE ENGAGEMENT DIRECTOR.
A PARENT-LED PATIENT
ADVOCACY GROUPS ESTABLISHED IN
MARCH OF 2020
WE ARE A RELATIVELY YOUNG
ORGANIZATIONS AND WE WERE
ESTABLISHED FOR THOSE LIVING
WITH CACN A1A DISORDERS, RARE
NEUROLOGICAL DISORDERS.
THESE ARE JUST A FEW OF THE --
THESE ARE A FEW SPACES THAT
REPRESENT OUR COMMUNITY.
AND THIS GUY HERE IS MY SON,
ALEX.
AND HE IS 7.
AND HE WAS DIAGNOSED WITH THE
THIS DISORDER IN DECEMBER OF
2021.
HE WAS 6.
SO THAT IS WHEN MY FAMILY'S
JOURNEY INTO THE RARE DISEASE
WORLD BEGAN.
AS A FORMERRER SCIENTIST AND
FORMER EDUCATOR, I HAD THE
OPPORTUNITY TO JOIN THE
LEADERSHIP TEAM AT THE
FOUNDATION JUST LAST SUMMER TO
HELP THEM CARRY OUT THEIR
MISSION.
SO I'M REALLY EXCITED TO BE HERE
TODAY AND SHARE OUR STORY OF HOW
WE ARE ENGAGING OUR PATIENT
COMMUNITY TOW BUILD OUR
PRE-CLINICAL TOOLBOX TO GET TO
THE CLINICAL TRIALS AND GET
TREATMENTS APPROVED FOR OUR
COMMUNITY.
SO WHAT IS THIS?
IT'S A GENE THAT ENCODES FOR A
CALCIUM ION CHANNEL THAT IS
IMPORTANT FOR NEUROTRANSMISSION
OR HAVE NEURONS TALK TO EACH
OTHER USING ELECTRICAL SIGNALS.
AND WHAT IT DOES, IT HANGS OUT
AT THE END OF NEURONS AND
PHYSICALLY OPENS UP AND ALLOWS
CALCIUM IONS IN.
THIS IS REALLY IMPORTANT FOR THE
RAPID TRANSMISSION OF
INFORMATION TO THE NEIGHBORING
NEURONS AND TO THE REST OF THE
BODY.
SO YOU CAN IMAGINE THAT
MUTATIONS OR CHANGES TO THE GENE
REALLY IMPACT COMMUNICATION IN
THE BRAIN.
AND IT LEADS TO NEUROLOGICAL
DISORDERS.
SO IN OUR COMMUNITY, WE HAVE
BOTH LOSS OF FUNCTION OF
MUTATIONS AND GAIN-OF-FUNCTION
MUTATIONS.
THESE ARE SEVERE BOUTS OF SEVERE
ATAXIA, LASTING FROM 30 MINUTES
TO HOURS.
AND THEY CAN BE VERY
DEBILITATING OF THE OUR
GAIN-OF-FUNCTION ARE LINKED TO
MIGRAINES WITH AURA AND THEY ARE
ALSO -- THEY ARE ACCOMPANIED BY
THE PARALYSIS OR LOSS AND
WEAKENING OF ONE SIDE OF THE
BODY.
AND ASSOCIATED WITH SOME REALLY
EXTREME CHANGES IN BRAIN
ACTIVITY.
AND SO, THEY CAN ALSO BE
LIFE-THREATENING BUT THE
IMMEDIATE MEDICAL ATTENTION IS
NOT TAKEN.
OVER THE LAST I'D SAY 5-10
YEARS, THE RESEARCH LITERATURE
HAS REALLY UNCOVERED A LARGER
SECTOR OF NEURODEVELOPMENTAL
DISORDERS, INCLUDING
DEVELOPMENTAL DELAY,
INTELLECTUAL DISABILITY, ASD,
HYPE TONIA, SEIZURES AND
EPILEPSIES INCLUDING THE MORE
SEVERE DEVELOPMENTAL AND
EPILEPTIC ENCEPHALOPATHIES.
ADDING TO A COMPLEXATIVE
PATHWAY, WE ALSO HAVE A LARGE
RANGE OF SEVERITY.
ABOUT A THIRD OF OUR PATIENT
COMMUNITY ARE NON AMBULATORY.
A THIRD OF NON VERBAL AND THE
REST HAVE VARIOUS DEGREES OF
LEVELS OF COMMUNICATION
MOBILITY.
WE ALSO SEE SOME LEVELS OF
CEREBELLAR OR LEVELS OF
NEURODEEN JUDGEERATION IN THE
FORM OF CEREBELLER ATROPHY.
AFFECTING A FEW PATIENTS.
WE ALSO HAVE AMR CHAIN AT
300,000 NUCLEOTIDES GENOMIC
SEQUENCE AND A LARGE CODING
SEQUENCE AND A LARGE NUMBER OF
VARIETIES THAT HAVE BEEN
REPORTED AND SPAN THE ENTIRE
GENOME.
SO BEING A YOUNG ORGANIZATION,
WE HAVE TO BE STRATEGIC ABOUT
WHERE WE ARE INVESTING OUR
FUNDING AND RESOURCES.
WHAT IT REALLY COMES DOWN TO IS
OUR FOCUS HAS BEEN, HOW DO WE
DERISK OUR GENE DISEASE IN
CLINICAL TRIALS?
WHAT CAN WE DO AS AN
ORGANIZATION TO MAKE OURSELVES
ATTRACTIVE TO AN INSTITUTION OR
A COMPANY THAT COULD INVEST IN
US AND HELP US DEVELOP
THERAPEUTICS FOR OUR COMMUNITY?
SO WE HAVE A FOUNDATION THAT HAS
BEEN DOING AS PART OF A CLINICAL
TRIAL READY INNOCENCE ENOUGH
TISH, IS BUILDING A PRE-CLINICAL
TOOLBOX.
I'LL JUST TALK ABOUT THE FIRST
FIVE HERE, INCLUDING NATURAL
HISTORY STUDIES AND CITIZEN AND
BIOBANKING.
WHAT WE HAVE ESTABLISHED THE
STRONG FOUNDATION WITH THE
PRE-CLINICAL TOOLBOX, WE CAN
START INVESTING IN BASIC
RESEARCH LIKE DISEASE RESEARCH.
WE CAN MOVE INTO TRANSLATIONAL
RESEARCH, LIKE THERAPEUTIC
DEVELOPMENT.
AND THEN EVENTUALLY WE WANT TO
GET TO THOSE PROOF-OF-CONCEPT
STUDIES AND THESE ARE THE
STUDIES THAT WILL SHOW OUR
DISEASE AND OUR GENE ARE
AMENABLE TO THE TREATMENTS THAT
WE ARE GOING AFTER AND THAT'S
REALLY IMPORTANT TO THE FDA.
AND OF COURSE WE CAN'T DO THAT
WITHOUT FUNDING FROM OR MONEY
FROM FUNDRAISING AND OUR
COMMUNITY ENGAGING AND GETTING
INVOLVED WITH US.
SO ONE OF THE FIRST THINGS WE
DID IS LAUNCHED A NATURAL
HISTORY STUDY BACK IN 2021.
AND THIS IS WITH DR. WENDY CHUNG
FROM COLUMBIA UNIVERSITY.
THIS IS STILL ONGOING.
IT'S COMPLETELY VIRTUAL.
WE ARE COLLECTING DATA DIRECTLY
FROM PATIENTS AND CAREGIVERS
THROUGH SURVEY DATA, TO REALLY
UNDERSTAND WHAT THE DISEASE IS
ALL ABOUT.
AND THEN THE LAST TWO YEARS, WE
HAVE BEEN TO RECRUIT OVER 150
PARTICIPANTS, PUBLICATION CAME
OUT LAST SUMMER FOR ALL THAT WAS
PUBLISHED IN CLINICAL GENETICS.
I WANT TO SHOW YOU SOME OF THE
DATA THAT CAME OUT OF THAT.
SO IF YOU LOOK UP HERE YOU CAN
SEE THE MAJORITY REPORTED SOME
LEVEL OF DEVELOPMENTAL DELAY
FOLLOWED BY HYPE TONIA, LOW
MUSCLE TONE, CONGENITAL ATAXIA
AND AN EYE MOVEMENT DISORDER,
EPILEPSY AND THEN YOU CAN SEE
MIGRAINES AND EPISODICS THERE
TOO.
WE ALSO HAD A CHANCE TO LEARN
ABOUT VERY RARE BUT VERY SEVERE
NEUROLOGICAL SYMPTOMS SUCH AS
COMA, CEREBRAL EDEMA OR SWELLING
OF THE BRAIN AND STROKE.
AND WE ALSO HAD A GLIMPSE INTO
THE SEIZURE SPECTRUM.
SO THESE NUMBERS ARE STILL SMALL
AT THE MOMENT.
IT WAS JUST FOR A COHORT OF 47.
BUT IT WILL BE INTERESTING TO
SHE HOW THIS DATA CHANGES OVER
TIME AND WITH A MUCH LARGER
PATIENT POPULATION.
AND THE IDEA AT SOME POINT WE
CAN LEVERAGE THIS AND HAVE AN
ATTRACTIVE PARTNER FOR
THERAPEUTIC DEVELOPMENT.
RARE X IS A PLATFORM MADE TO
COLLECT AND SHARE RARE DISEASE
DATA.
AND THAT NUMBER 25 IS WRONG.
THERE ARE OVER 40 RARE DISEASES
REPRESENTED IN THIS PLATFORM.
WE ONLY HAVE 60 PARTICIPANTS.
BUT WE DID THIS TO PULT OUR DATA
IN FRONT OF A DIFFERENT SET OF
EYES.
SO IN MAY, THEY ARE LAUNCHING AN
OPEN SCIENCE DATA CHALLENGE.
THEY ARE GOING TO MAKE THEIR
DATABASE REALLY AVAILABLE TO
SCIENTISTS FROM BOTH ACADEMIA
AND INDUSTRY AND THEY ARE GOING
TO HAVE THE CHANCE TO LOOK AT
THE DATA AND ANALYZE IT,
COLLABORATE AND EVEN APPLY FOR
FUNDING FOR POTENTIAL PROJECTS.
SO, WE ARE EXCITED TO HAVE OUR
PATIENT DATA INCLUDED IN THIS
INITIATIVE.
THIS PUTS THEM ALL INTO ONE
PLACE UNDER THE OWNERSHIP OF THE
PATIENT AND CAREGIVERS.
THIS IS A REALLY GREAT SERVICE
TO OUR COMMUNITY BUT IT CAN ALSO
BE A GREAT SERVICE TO OUR
RESEARCH COMMUNITY AS WELL AS
PATIENTS CONSENT TO SHARE THEIR
DATA.
ONE OF THE THINGS WE ARE EXCITED
ABOUT IS THE BUILDING OF THESE
RETROSPECTIVE NATURAL HISTORY.
WE SEE THIS WAY AS A WAY TO COMP
COMMENT WHAT WE ARE ALREADY
DOING.
AND PUTTING ALL OF THIS TOGETHER
WILL GIVE US THE MOST
COMPREHENSIVE PICTURE OF RELATED
DISORDERS.
WE WANT TO LEVERAGE THIS DATA TO
GET SOMEBODY INTERESTED TO
DEVELOP THERAPEUTICS.
AND NASHA WILL BE SPEAKING RIGHT
AFTER ME AND SHE IS GOING TO BE
TELLING YOU ABOUT CITIZEN IN
MUCH MORE DETAIL.
I'M LOOKING FORWARD TO SHARING
FROM HER BECAUSE WE JUST START
ON BOARDING SO THIS IS STILL
VERY NEW TO US.
ANOTHER THING WE STARTED WAS A
DISEASE CONCEPT MODEL STUDY.
THIS IS IN COLLABORATION WITH
THE DISEASE CENTER AND
UNIVERSITY OF PENNSYLVANIA.
WE ARE FORTUNATE TO HAVE A
GENETIC COUNSELING MASTER
STUDENT USE US FOR HER STUDY AS
HER THESIS.
SO WHAT THIS IS, IT'S A
SYSTEMATIC COLLECTION CODING AND
CURATION OF PATIENT, CAREGIVER
AND CLINICIAN-REPORTED DATA
FOCUSING ON IDENTIFYING THE
DISEASE BURDENS OF THESE
DISORDERS AND THE QUALITY OF
LIFE.
AND THIS IS IMPORTANT BECAUSE WE
ARE GOING TO BE USING THIS DATA
TO PRESENT TO THE FDA DURING
THOSE PATIENT-FOCUSED DRUG
DEVELOPMENT MEETINGS.
SO THOSE FUTURE MEETINGS, WE
WILL HAVE THIS DATA TO SHOW THE
FDA WHAT THESE DISEASES ARE AND
WHAT ARE THE NEEDS AND THE
TREATMENT GAP THAT IS EXIST IN
OUR COMMUNITY.
AND THEN WE ALSO HAVE A
BIOBANKING PROGRAM.
SO WE LAUNCHED THIS BACK IN
NOVEMBER OF 2021 WITH COMBINED
BRAIN, WHICH IS A RARE DISEASE
NEURODEVELOPMENTAL CONSORTIUM
THAT DOES A LOT MORE THAN JUST
BIOBANKING.
AND WE ALSO HAVE SAMPLE
SEPTEMBER TO THE NATIONAL
INSTITUTE OF GENERAL MEDICAL
SCIENCES.
AND SO WHAT THIS IS, THESE
PATIENT DERIVED -- WHY DO WE
CARE ABOUT THEM?
THESE ARE CELLS THAT CAN BE
DERIVED FROM PATIENT BLOOD
SAMPLES.
THEY HAVE THE ABILITY TO TURN
INTO ANY TYPE OF CELL.
SO FOR THIS DISEASE AND DISEASE
RESEARCH, WE CAN TAKE THESE
PATIENT DERIVED IPSCs,
DIFFERENT ENT 8 THEM WITH
NEURONS AND STUDY THE IMPASSE OF
THESE VARIANTS OUTSIDE OF THE
BODY.
WHICH IS EASIER THAN TRYING TO
GET INTO THE BRAIN.
AND SO WE CURRENTLY HAVE THREE
COMPLETED LINES, FIVE MORE IN
DEVELOPMENT AND THEN 7 MORE
COLLECTED.
AND THESE CAN BE OFFERED UP TO A
POTENTIAL COLLABORATORS AS WELL
FOR THERAPEUTIC DEVELOPMENT.
SO, I JUST WENT OVER A FEW OF
THE THINGS THAT WE HAVE DONE AS
A FOUNDATION TO GET READY FOR
CLINICAL TRIALS.
DO YOU NEED ALL OF THIS?
MAYBE NOT BUT WE KNOW FROM OUR
PERSPECTIVE, WE HAVE A LARGE
GENE WITH MANY VARIANTS.
WE HAVE A LOT OF HOMEWORK WE
NEED TO GET DONE BEFORE SOMEONE
WILL COME AND SAY WE WANT YOUR
DISEASE AND WE'RE GOING TO WORK
ON IT.
THAT'S WHAT WE HAVE BEEN TRYING
TO DO.
AND I'LL JUST SAY THIS ABOUT
ANIMAL MODEL DEVELOPMENT.
WE ARE STARTING TO INVEST IN
SOME MOUSE MODELS THAT CARRY
HUMAN PATHOGENIC VARIANTS AND
THEN LATER ON THIS YEAR, WE ARE
HOPING TO LAUNCH AND STUDY TO
IDENTIFY BIOMARKERS AND OUTCOME
MEASURES WHICH ARE IMPORTANT FOR
THOSE PROOF-OF-CONCEPT STUDIES
AS WELL AS CLINICAL TRIALS.
SO BECAUSE OF OUR PRE-CLINICAL
TOOLBOX, WE HAVE BEEN ABLE TO
INVEST IN SOME BASIC DISEASE
RESEARCH SO FAR.
WE ARE STARTING TO STUDY THE
IMPACTS OF ALL THE VARIANTS ON
PROTEIN FUNCTION AND HOW THEY
LEAD TO THE DISEASE PHENOTYPES
WE SEE AND WE ARE DOING A LOT OF
GENOTYPE PHENOTYPE STUDIES.
AGAIN TO UNDERSTAND WHAT THE
VARIANTS ARE DOING.
OUR PURPOSE THEN IS TO TRY TO
BUCKET OUT THESE VARIANTS
ACCORDING TO THE TYPE OF
VARIANT, AND TYPE OF SYMPTOMS
AND THEN WE CAN START TO
IDENTIFY THE MODALITIES OR THOSE
TARGETED APPROACHES THAT MIGHT
WORK FOR THOSE LITTLE CELL
POPULATIONS.
AND SO THIS YEAR WE ARE REALLY
HOPING TO FOCUS ON TRANSLATIONAL
RESEARCH IN THERAPEUTIC
DEVELOPMENT.
WE REALLY LIKE TO INVEST IN OUR
PURPOSING SCREEN AND WE ARE
POSSIBLY LOOKING AT THESE
ANTI-OLIGONUCLEOTIDES WHICH
COULD TARGET BOTH LOSS OF
FUNCTION AND GAIN-OF-FUNCTION
VARIANTS.
AND THEN AGAIN, WE HOPE TO KEEP
EXPANDING OUR BIOBANKING PROGRAM
AND EXPAND OUR ANIMAL MODEL
DEVELOPMENT FOR THOSE KEY
PROOF-OF-CONCEPT STUDIES THAT
WILL COME RIGHT BEFORE WE HIT
THOSE CLINICAL TRIALS.
SO I WANT TO END WITH THIS SLIDE
HERE THAT JUST SUMMARIZES ALL OF
THE DIFFERENT THINGS THAT -- ANY
RARE DISEASE ORGANIZATION WILL
ACCOMPLISH BY ENGAGING THEIR
PATIENT COMMUNITY.
AND WE STILL HAVE A LONG WAY TO
GO.
WE ARE STILL LOOKING FOR
PATIENTS EVERY DAY.
BUT WE KNOW THAT SEEMS WE HAVE
THESE NEWLY DIAGNOSED PATIENTS
COME TO US AND THEY AND THEIR
FAMILIES ARE OVERWHELMED AND
LOST AND THEY DON'T KNOW WHAT TO
DO.
AND I THINK IT'S REALLY
IMPORTANT FOR THEM TO KNOW THAT
THERE ARE THESE SMALL STEPS THEY
CAN TAKE LIKE FILL OUT SURVEYS,
DONATE SOME BLOOD, SIGN UP FOR
CITIZEN, ALL OF THAT CAN MOVE
THE RESEARCH FORWARD AND DEVELOP
THERAPEUTICS FOR THEIR CHILD'S
OR FOR THEMSELVES IF THEY ARE
THE PATIENT.
WE KNOW THAT EVERY PATIENT
COUNTS IN THE RARE DISEASE
COMMUNITY.
EVERY PATIENT CAN ABSOLUTELY
PLAY THEIR PART.
SO I WANTED TO JUST END BY
THANKING NIH AND N CATS FOR
HOSTING THIS EVENT AND THE
INVITATION TO SPEAK.
NINDS FOR FUNDING A LOT OF THE
RESEARCH THAT COVERS THE SPOKE
OF THESE DISORDERS AND A GRANT
TO THE FOUNDATION WHICH ALLOWED
THEM TO BRING ME ON TO THEIR
TEAM.
THANK YOU TO THE FOUNDATION
BOARD, OUR SCIENTIFIC ADVISORY
BOARD AND OUR RESEARCH NETWORK
FOR GETTING US CLOSER TO
TREATMENTS EVERY DAY.
OUR WEBSITE IS ALSO UP THERE AS
WELL.
UNDER THAT IS OUR GENERAL E-MAIL
BUT MINE IS UP THERE AS WELL.
REACH OUT ANY TIME.
WE WOULD LOVE TO CONNECT WITH
PEOPLE AND FAMILIES AND OTHER
PATIENT ADVOCACY GROUPS BECAUSE
THEY ARE SOMETIMES THE BEST
RESOURCES TO HAVE.
WE ALSO HAVE A BOOTH SO STOP BY.
AND LASTLY, THANK YOU TO OUR
COMMUNITY FOR ALL THEY HAVE
DONE.
THEY ARE THE REASON WE ARE HERE.
>> THANK YOU FOR SHARING YOUR
STORY AND LETTING US KNOW ALL
ABOUT YOUR FOUNDATION.
NEXT UP IS ANOTHER RARE STORY.
THIS ONE IS TITLED, CREATING
YOUR NATURAL HISTORY STUDY.
AND WE'RE GOING TO HEAR FROM
NASHA FITTER WHO IS A RARE
DISEASE CAREGIVER AND ALSO THE
CO-FOUNDER AND CEO OF FOX G1
RESEARCH FOUNDATION.
SHE ALSO SERVES AS THE
VICE PRESIDENT OF REAL WORLD
EVIDENCE AND THE CITIZEN
PLATFORM INVITAE.
>>THANK YOU FOR INVITING ME,
ALLISON, THE NIH TEAM.
IT'S REALLY WONDERFUL TO BE HERE
AND I HAVE TO SAY THAT
PRESENTATION BEFORE US, PANGKONG
FOX, THE FOUNDATION HASN'T BEEN
AROUND VERY LONG IF YOU LOOK AT
THE MULTITUDE OF WORK THEY HAVE
DONE.
IF YOU'RE A NEW RARE DISEASE
PARENT -- I REMEMBER COMING TO
THIS PARENT WHEN I WAS ONE.
THAT IS THE ROADMAP TO REALLY
FOLLOW.
SO IT'S JUST LIKE AN AMAZING
JOB.
SO I WORK AT CITIZEN WHICH IS
NOW INVITAE AND I'M THE
CO-FOUNDER OF THE FOX G1
RESEARCH FOUNDATION.
SO THE REASON I DO THIS IS
BECAUSE OF MY DAUGHTER, AMARA,
AND LIKE MANY OF US.
SO HERE ON THIS SIDE OF THE --
ON THE RIGHT SIDE IS HER AT
6-MONTH-OLD WHICH SHE BEGAN
HAVING SEIZURES.
SHORTLY AFTER, WE RECEIVED THE
DIAGNOSIS THAT SHE HAS FOX G1
SYNDROME.
THE PICTURE ON THE OTHER SIDE IS
THREE MONTHS AGO WHEN SHE WENT
THROUGH A PERIOD OF -- BASICALLY
MEANS IT'S A NEVER ENDING
SEIZURE AND YOUR CHILD NEEDS TO
BE PUT IN AN INDUCED COMA.
SO THEY DON'T DIE.
AND THAT WAS ONE OF THE WORST
EXPERIENCES OF MY LIFE AND THAT
PICTURE IN THE MIDDLE IS HER
JUST LAST WEEK ON HER 7th
BIRTHDAY.
AND THIS IS THE PICTURE --
[ APPLAUSE ]
THANK YOU.
THIS IS THE GIRL THAT KEEPS ME
GOING AND PUSHES ME TO WORK
HARDER EVERY DAY TO FIND A CURE
TO TREATMENT.
AND SO, I'M NOT DOING THIS ALONE
AND ONE THING I TELL ALL RARE
DISEASE ADVOCATES IS THIS IS A
TEAM EFFORT.
I DON'T HAVE A SCIENTIFIC
BACKGROUND.
I DON'T HAVE A MEDICAL
BACKGROUND.
BUT FOR ALL OF US, WE ALL HAVE A
BACKGROUND AND THE GOAL IS TO
USE YOUR BACKGROUND AND TO BRING
THE QUALITIES YOU HAVE FORWARD
AND BUILD THE TEAM AROUND YOU TO
SUPPLEMENT WHAT YOU DON'T HAVE.
SO THIS IS OUR CLOSING TEAM OF
SCIENTISTS, OF PARENTS,
CLINICIANS AND WE WORKED
TOGETHER OVER THE LAST NOW FIVE
YEARS TO REALLY BUILD OUR
FOUNDATION AND TO DO THE WORK.
AND SO, WE HAVE DONE ALL OF
THESE DIFFERENT THINGS SO MANY
OF YOU DO.
THE HARDEST ONE DEFINITELY BEING
RAISING MONEY AND HAPPY TO TALK
TO ANYONE ABOUT TIPS ON THAT
LATER.
SO OUR FOUNDATION IS FOCUSED IN
THREE AREAS AND IT DOESN'T MEAN
IF YOU'RE AN ADVOCATE YOU HAVE
TO FOCUS ON ALL THREE AREAS.
THIS IS WHAT WE HAVE DONE.
SO ONE IS THE SCIENCE.
THAT'S A BIG PART OF THE FUNDING
OF GRANTS AND SCIENTISTS,
TRANSLATIONAL WORK, BASIC
SCIENCE WORK.
THEN WE TAKE CARE OF OUR
COMMUNITY.
WE DIDN'T PLAN TO DO THAT BUT WE
REALIZED WE HAD TO DO THAT.
WE DO A LOT OF EVENTS AND
DIFFERENT THINGS FOR OUR PATIENT
COMMUNITY AND THE THIRD AND WHAT
I'LL BE TALKING TO YOU ABOUT
TODAY IS DATA.
DATA IS SO CRITICAL.
YOU CAN NOT CREATE A DRUG
WITHOUT PATIENT DATA AND REALLY
DEEP CLINICAL DATA.
AND HOW DO YOU DO THAT?
SO, THIS IS SOMETHING THAT I
KEPT HEARING FROM BIOPHARMA
COMPANIES WHEN I STARTED THIS
PROCESS.
THAT IF YOU DON'T DO ANYTHING
ELSE, JUST DO A NATURAL HISTORY
STUDY.
AND SO THEN I STARTED TRYING TO
FIGURE OUT, THAT SOUNDS FUN.
HOW DO WE DO A NATURAL HISTORY
STUDY?
AND I LEARNED THAT IT'S ACTUALLY
A PRETTY BIG PAIN FOR RARE
DISEASES, ESPECIALLY ULTRARARE
DISEASES.
YOU HAVE TO STAND UP A CLINICAL
SITE AND ACADEMIC CENTER, STAND
UP USUALLY MORE THAN ONCE.
THIS COSTS YOU MILLIONS OF
DOLLARS.
IF YOU'RE AN ULTRARARE DISEASE,
YOU HAVE A FEW HUNDRED PATIENTS
IF YOU'RE LUCKY.
HOW MANY ARE GOING TO TRAVEL TO
ONE OF THESE ACADEMIC SITES AND
THEN CONTINUE TO TRAVEL TO THESE
SITES EVERY 3 MONTHS, 6 MONTHS,
ONE YEAR?
SO YOU END UP HAVING PATIENTS
THAT START AND END UP DROPPING
OUT.
YOU GOT DATA WAY LOT OF HOLES IN
IT.
MY DAUGHTER WAS A PART OF A
NATURAL HISTORY STUDY AND WHAT I
REALIZED DURING THAT PROCESS, WE
ONLY WENT TO THE FIRST TWO
APPOINTMENTS, IS THAT ALL OF THE
QUESTIONS I WAS BEING ASKED WERE
THE SAME ONES THAT I WAS ALREADY
TALKING TO MY NEUROLOGIST ABOUT
EVERY TIME I TOOK HER FOR AN
APPOINTMENT.
WHICH IS DEFINITELY A MINIMUM OF
EVERY SIX MONTHS BECAUSE WE NEED
THAT TO GET OUR THERAPIES
APPROVED.
SO I JUST THOUGHT, WHY DON'T WE
JUST GET ALL OUR MEDICAL RECORDS
AND PULL THE INFORMATION
TOGETHER.
MY BACKGROUND, THIS IS WHERE MY
BACKGROUND CAME OUT.
I HAVE A TECH BACKGROUND,
ENTREPRENEURIAL.
I SAID LET ME USE THAT TO TRY TO
SOLVE THIS PROBLEM.
SO I WAS LUCKY, VERY LUCKY, I
FOUND A START-UP AT THE TIME
CALLED CITIZEN THAT WAS NEAR
WHERE I LIVED IN NORTHERN
CALIFORNIA.
AND CITIZEN AT THE TIME WAS
FOCUSED ON CANCER PATIENTS.
BREAST CANCER PATIENTS.
AND THE IDEA WAS HEY, LET'S USE
PATIENT'S OWN HIPPA RIGHT OF
ACCESS, SO ALL OF US HADED RIGHT
FEDERALLY TO COLLECT THE
ENTIRETY OF OUR MEDICAL RECORDS.
AND I KNOW MANY OF YOU MAY SAY I
HAVE A PATIENT PORTAL.
YOUR PATIENT PORTAL DOES NOT
HAVE THE ENTIRETY OF YOUR
MEDICAL RECORDS T DOES NOT HAVE
ALL YOUR CLINICAL NOTES, OR MRI
IMAGES.
IF YOU'RE A HEALTHY PERSON
THAT'S FINE.
WHAT IS IN YOUR PORTAL IS
ENOUGH.
BUT IF YOU'RE NOT, YOU NEED ALL
THE REST OF THAT INFORMATION.
SO WHAT CITIZEN DOES, IT USES
THE PATIENT'S HIPPA RIGHT OF
ACCESS TO GO TO EVERY SINGLE
INSTITUTION YOU HAVE BEEN SEEN
AND REQUEST THE ENTIRETY OF YOUR
MEDICAL RECORD AND SCANS THOSE
DOCUMENTS AND FIRST AND FOREMOST
PROVIDES IT BACK TO PATIENTS
BECAUSE THE PATIENTS DESERVE
THEIR OWN DATA.
YOU HAVE YOUR OWN DATA.
YOU CAN DOWNLOAD IT, SHARE IT,
DO WHATEVER YOU WANT WITH IT.
IT'S YOUR DATA.
AND THEN WHAT THE COMPANY DOES
ON THE BACK END IS WHAT I HAD
THOUGHT WAS THE PERFECT IDEA FOR
RARE DISEASES FOR NATURAL
HISTORY STUDIES, WHICH IS CREATE
A DISEASE ONTOLOGY AND THEN
EXTRACT ENDPOINTS AND NORMALIZE
THE DATA AND THEN MAKE THAT
AVAILABLE TO EVERYONE.
PATIENTS, ADVOCACY GROUPS,
RESEARCHERS, BIOPHARMACEUTICAL
COMPANIES, EVERYONE HAS TO WORK
TOGETHER TO CURE A DISEASE.
NO ONE PARTY IS MORE IMPORTANT
THAN ANOTHER.
SO THIS IS A VERY PICTORIAL
EXAMPLE OF EXACTLY WHAT I MEAN.
SO HERE IS A RICH CLINIC NOTE.
THIS NOTE IS FILLED WITH REALLY
IMPORTANT INFORMATION BUT IT'S
COMPLETELY UNSTRUCTURED.
SO WHAT CITIZEN DOES, LITERALLY
GO THROUGH THIS AND TAKE OUT
POINTS THAT THEN GET NORMALIZED.
SO IF YOU LOOK AT THE SECOND
PARAGRAPH, DECREASED TONE
THROUGHOUT.
THAT GETS NORMALIZED TO
GENERALIZE HYPE TONIA, THIS IS
USING A TERMINOLOGY SYSTEM
CALLED SNOMED.
IT'S NOT USING ICD10 AND 9
CODES, WHICH ARE GREAT FOR
BILLING PURPOSES BUT NOT WHEN
YOU'RE TRYING TO TYPE A
CONDITION.
THESE TERMINOLOGIES ARE GREAT TO
DESCRIBE CONDITIONS TO DESCRIBE
DISEASES.
SNOMED ALSO JUST AMAZING AND
ALLOWS FOR HIERARCHAL
RELATIONSHIPS AND ALL TYPES OF
DIFFERENT THINGS THAT,TA ALLOW
FOR GENOTYPE AND PHENOTYPING.
THIS IS AN EXAMPLE OF ONTOLOGY.
WHAT WAS IMPORTANT WHEN WE
CREATED THIS IS WE WERE LOOKING
FOR ENTITIES THAT SHOW DISEASE
PROGRESSION AND ENTITIES THAT
COULD BE MEASURED IN A CLINICAL
TRIAL.
SO THINGS THAT YOU CAN MEASURE
IN THREE MONTHS, SIX MONTHS AND
NINE MONKS.
THE END GOAL IS HOW ARE WE GOING
TO USE THIS DATA FOR DRUG
DEVELOPMENT AND ACCELERATE DRUG
DEVELOPMENT?
SO HERE IS AN EXAMPLE OF A
PATIENT WITH STXBP1 DISORDER.
A SINGLE PATIENT.
YOU SEE THIS PATIENT COMING IN
AT ZERO.
THEY CAME INTO THE HOSPITAL.
THEY HAD EPILEPSY.
PUT ON PHENOBARBITAL.
CONTINUE ON AND HAVE GLOBAL
DEVELOPMENTAL DELAYS.
YOU HAVE MORE SYMPTOMS AND THEN
THEY HAVE A CLUSTER OF HOSPITAL
VISITS, CLUSTER OF E.
Gs AND PUTTA A HOST OF
MEDICATIONS.
AFTER THAT, THIS IS AFTERTWO
YEARS, THEY FINALLY GET THEIR
GENETIC DISORDER AND THEN WE SEE
THAT THEIR SEIZURES BASICALLY
DISSIPATE.
NOW WHEN YOU LOOK AT AN
INDIVIDUAL PATIENT YOU GET A
GOOD IDEA OF THEIR DISEASE
PROGRESSION AND DIFFERENT
CLINICAL SYMPTOMS BUT YOU KIND
OF -- IT POSES SOME INTERESTING
QUESTIONS.
DID THE SEIZURES STOP BECAUSE IN
THIS DISEASE SEIZURES REMIT
AFTER A CERTAIN AGE OR DUE TO
THE DRUGS THEY WERE TAKING OR
WAS THERE SOMETHING ELSE?
SO THEN YOU START PUTTING MORE
AND MORE PATIENT DATA ON TO THIS
TO ANSWER THOSE QUESTIONS.
HERE IS AN EXAMPLE.
SO PANGKONG FOX TALKED ABOUT
PHENOTYPING.
WE FOUND THIS REALLY IMPORTANT
FOR FOX G1 GENES.
WE HAVE SUCH A SPECTRUM OF
PHENOTYPES AND WHAT WE WERE ABLE
TO DO WITH THIS DATA IS LOOK AT
OUR PATIENT POPULATION, LOOK AT
MUTATIONS ON WHERE THEY FALL
WITHIN THE GENE AND THEN MAP
THEM TO A SEVERITY SCORE.
THIS IS HELPING US FIGURE OUT
WHICH THERAPIES ARE GOING TO BE
BEST SUITED FOR DIFFERENT
PATIENTS.
THIS IS ALSO GOING TO HELP US IN
A CLINICAL TRIAL TO KNOW WHICH
ARE THE PATIENTS THAT ARE GOING
TO REACT MORE FAVORABLY TO A
PARTICULAR DRUG?
ALL RIGHT, SO THIS IS ALL GREAT
WORK AND I STARTED DOING THIS
WITH CITIZEN SO WE COULD HAVE A
HISTORY STUDY FOR FOX G1 AND
THEN WE BROUGHT IN MORE GROUPS.
WE HAD A SMALL PILOT AND GOT A
GRANT FROM CZI THAT FAIRY GOD
MOTHERRERS FOR ALL OF US AND WE
GOT THIS WORK DONE.
WHAT WAS VERY EXCITING FOR US IS
PRACTICE PRECISION MEDICINE,
THEY HAVE CEO WHO IS A VISIONARY
AND FELT THAT THE CURRENT WAY WE
DO THESE IN-PERSON NATURAL
HISTORY STUDIES DOES NOT WORK
FOR RARE DISEASES.
AND HE WANTED TO TAKE A BET ON
US AND TRY THIS OUT.
SO WE BUILT A COHORT FOR THIS.
THEY USED THE DATA AND SUBMITTED
IT FOR THEIR I IN.
D APPLICATION WITHIN THEIR IND
APPLICATION AND THEY THOUGHT
THEY WOULD NEED SUPPLEMENTAL
DATA.
THEY HAD AN IN-PERSON STUDY
GOING AS WELL BUT IT WAS
APPROVED BY THE FDA DUE TO THE
DEPTH OF THE DATA.
AND THIS COMPLETELY LIKE -- I
DON'T KNOW HOW TO EXPLAIN HOW
EXCITING OF A MOMENT THIS WAS,
THAT THE DATA WAS RICH ENOUGH TO
PASS THE STANDARD.
AND THIS SAVED THEM FIVE YEARS.
SO THIS CLINICAL TRIAL IS
HAPPENING FIVE YEARS AHEAD OF
SCHEDULE BECAUSE THEY WERE ABLE
TO UTILIZE THE DATA.
I HAVE 5 MINUTES LEFT.
I HAVE TO GO FAST.
I'M GOING TO SHOW YOU A COUPLE
SLIDES OF THE DATA THEY USED IN
THEIR APPLICATION.
THE FIRST IS ON THEIR PRIMARY
ENDPOINT BEING SEIZURES.
SO IT WAS FOR THIS DISEASE, IT'S
PRETTY OBVIOUS THE ENDPOINT IS
GOING TO BE SEIZURES.
WHAT THEY THOUGHT BASED ON WHAT
WAS ALREADY PUBLISHED IS THAT
SEIZURES REMIT AFTER THE AGE OF
3.
AS YOU CAN SEE FROM THIS GRAPH,
THE LITTLE BLACK BARS ARE THE
END OF MEDICAL RECORD
COLLECTION.
YOU CAN SEE THAT IN ALL BUT ONE
PATIENT, DO SEIZURES REMIT?
SEIZURES CONTINUE.
THIS GAVE THEM MORE CONFIDENCE
THIS WAS A GREAT PRIMARY
ENDPOINT AND ALLOWED THEM TO
EXPAND THEIR INCLUSION EXCLUSION
CRITERIA.
NEXT IS JUST THINKING ABOUT WHAT
ARE YOUR EXPLORATORY AND
SECONDARY ENDPOINTS?
SO BY LOOKING AT EVERY CLINICAL
SYMPTOM THAT YOU CAN ACCESS FROM
YOUR MEDICAL RECORDS, YOU CAN
START GROUPING THE PERCENTAGE OF
PATIENTS EXPERIENCING DIFFERENT
SYMPTOMS.
THIRD, AND THIS IS MY FAVORITE
SLIDE OF ALL-TIME, IS BURDEN OF
DISEASE.
SO LET'S LOOK AT THIS.
THESE ARE PATIENTS JUST THEIR
FIRST YEAR OF LIFE.
FIRST YEAR OF LIFE THEY ARE ON
14.5 MEDICATIONS.
THIS IS LIKE A SMALL BABY, 14.5
MEDICATIONS.
THIS SHOWS THAT THEY ARE ON A
LOT OF MEDICATIONS BUT ALSO NONE
ARE ACTUALLY WORKING.
SECOND IS JUST THEIR DIAGNOSTIC
AND THERAPEUTIC PROCEDURES.
EEGs, MRIs, 21.
HOSPITALIZATIONS, 4.3 BUT LOOK
AT THE DURATION, NUMBER OF DAYS.
UP TO ABOUT 70 DAYS PER
HOSPITALIZATION ON AVERAGE FOR
THESE CHILDREN.
THIS IS THE SLIDE THAT ALLOWED
THEM TO REALLY PUSH THE CLINICAL
TRIAL EVEN THOUGH EVERYONE --
NOT EVERYONE BUT IF YOU KNOW
THIS DISEASE, YOU'RE AWARE THAT
IT'S A SERIOUS DISEASE BUT UNTIL
THIS DATA WAS SHOWN SO CLEARLY,
THIS IS WHAT ALLOWED THE FD TOO.
LOOK AT THIS AND SAY THIS IS A
MASSIVE BURDEN.
YOU HAVE ENOUGH DATA.
YOU CAN PROCEED TO YOUR CLINICAL
TRIAL.
THIS IS WHAT WE ARE MOST PROUD
OF WE WERE ABLE TO DO AND WHAT
WE WANT TO DO FOR EVERY SINGLE
RARE COMMUNITY.
SO, SPEAKING OF THAT, WE WORKED
VERY HARD TO EXPAND THE PLATFORM
AND NOW WE ARE ABLE TO TAKE --
WE WORK MAINLY DIRECTLY WITH
ADVOCACY GROUPS, PATIENTS CAN
COME ON THEIR OWN AS WELL.
WE ALSO WORK WITH RARE X AND
REALLY GREAT REGISTRY PLATFORMS.
IT'S A VERY GOOD SYNERGY WE HAVE
GREAT DATA FROM PATIENTS AND
SURVEYS AND CAREGIVERS COMBINED
WITH EMR DATA.
AND WE HAVE OPENED UP THE
PLATFORM FOR ANYONE WITH
EPILEPSY, PATIENTS WITH EM LEPSY
EAR DEVELOPMENTAL DELAY.
WE HOPED TO EXPAND IT TO OTHER
DISEASES, CARDIOMY OPY THAT,
MUSCULAR DISEASES AND ET CETERA
IN TIME.
AND THAT IS IT.
HAPPY TO ANSWER QUESTIONS LATER.
[ APPLAUSE ]
>> NEXT UP WE HAVE ANOTHER RARE
STORY TITLED, SCIENTIFIC AND
PATIENT JOURNEY TO THE FIRST
U.S. FDA APPROVED DRUGS FOR TWO
RARE EOSINOPHILIC DISEASES.
THIS WILL BE A DUO PRESENTATION
AND WE'LL BE JOINED BY DR. MARC
ROTHERBERG, A PRINCIPAL
INVESTIGATOR FOR A CONSORTIUM OF
GASTROINTESTINAL DISEASE
RESEARCHERS.
HE IS THE DIRECTOR OF THE
DIVISION OF ALLERGY AND
IMMUNOLOGY AT CINCINNATI
CHILDREN'S,
CENTER (CCHMC); DIRECTOR
CINCINNATI CENTER FOR
EOSINOPHILIC DISORDERS, CCHMC;
PROFESSOR, UNIVERSITY OF
CINCINNATI DEPARTMENT OF
PEDIATRICS
WE ARE ALSO JOINED BY ELLYN
KODROFF WHO IS PART OF THE
COALITION OF PATIENT ADVOCACY
GROUPS
REPRESENTATIVE, CEGIR
RDCRN; PRESIDENT AND FOUNDER,
CAMPAIGN URGING RESEARCH FOR
EOSINOPHILIC
DISEASES.
>> GOOD AFTERNOON.
I'M MARC ROTHERBERG.
YOU ALREADY HEARD OUR
INTRODUCTIONS AND THAT WAS QUITE
LONG.
THANK YOU VERY MUCH FOR INVITING
US TO SPEAK TODAY.
I MUST LET YOU KNOW I'M TRULY
AMAZED AND INSPIRED TO HEAR THE
TALKS, ESPECIALLY FROM THE
PARENTS AND FAMILY MEMBERS AND
IT'S TRULY IMPRESSIVE TO SEE THE
TYPES OF IMPACT THAT PEOPLE,
ESPECIALLY FAMILY MEMBERS AND
PATIENTS ARE HAVING ON DISEASES
AND IT'S TRULY IMPRESSIVE THE
IMPACT AND HOW YOU'RE ENABLING
DISEASES AND IMPROVING LIFE IN A
WAY THAT COULDN'T JUST BE DONE
BY PHYSICIANS OR HEALTH CARE
PROVIDERS ALONE.
I ALSO WANT TO SAY I'M TRULY
HUMBLED HERE BECAUSE SOME PEOPLE
MIGHT CALL ME A RARE DISEASE
EXPERT BUT I WALK AROUND AND SEE
THE POSTERS AND THE NAMES OF
THESE DISEASES AND I CAN TRULY
SAY THAT I KNOW BARELY ANYTHING.
I WORK ON DISEASES DESCRIBED
TODAY JUST A COUPLE OF RARE
DISEASES.
WHAT MY GOAL IS TO TAKE YOU
THROUGH OUR JOURNEY, WHICH HAS
BEEN A LITTLE MORE MATURE THAN
THE ONES WE PERHAPS HEARD ABOUT
EARLIER TODAY IN TERMS OF HOW WE
STARTED.
THIS HAS BEEN MATURE BECAUSE
IT'S BEEN A LONG JOURNEY, ABOUT
2 1/2 DECADES FOR ME, MYSELF,
AND ELEANOR, THE SAME AMOUNT OF
TIME.
AND HOW WE PARTNERED TOGETHER
WITH PATIENTS AND ADVOCACY AND
KEY STAKEHOLDERS WHO ADVANCED IN
THE STANDING OF RARE DISEASES OF
INTEREST AND SUCCESS IN TERMS OF
APPROVAL OF DRUGS BY THE FDA TO
RARE DISEASES.
IN TERMS WE DON'T HAVE TO WORRY
ABOUT HES.
I HAD TO LOOK UP WHAT FOX GENE 1
WAS BUT THESE ARE PROTOTYPIC
EXPERIENCES THAT IMPACT US BUT I
WILL GIVE YOU SOME BACKGROUND.
I WORK ON DISEASES RELATED TO
THE IMMUNE SYSTEM AND MOST OF
THE DISEASES ARE RELATED TO SIN
FILLS.
THIS IS A BLOOD CELL, WHITE
BLOOD CELL SHOWN IN PERIPHERAL
BLOOD.
IT WAS THE ROUND ONES AND RED
BLOOD CELLS YOU HEARD EARLIER
WITH THE SICKLE CELL, THIS IS
ONE OF THE WHITE BLOOD CELLS.
IT'S A RARE CELL.
IT ONLY TYPICALLY ACCOUNTS FOR
1% OF THE CELLS IN THE BLOOD T
ACCUMULATES IN DIFFERENT DISEASE
STATES WHICH WE CALL CYNOPHILIA.
AND THEN THERE IS A SERIES OF
DISEASES WHICH THESE CELLS ARE
UNCONTROLLED AND THEY CAN
PROPAGATE AT VERY HIGH LEVELS,
MANY TIMES IT'S RELATED TO THE
ACTIVATION OF THE IMMUNE SYSTEM
PARTICULARLY THROUGH ALLERGIES
AND OTHER TIMES IT COULD BE A
PRIMARY DEFECT IN THE
HEMATOPOIETIC SYSTEM IN THE BONE
MARROW.
SO THESE DISEASES ARE COMPLEX
BECAUSE ESIN FILLS ARE PART OF
THE IMMUNE SYSTEM AND THEY ARE
PRESENT IN THE BODY AT LOW
LEVELS AND AT HOMEOSTATIC
CONDITIONS, WHICH IS SHOWN ON
THE LEFT SIDE OF THIS DIAGRAM.
THE VARIOUS LOCATIONS WHERE THEY
CAN SOMETIMES BE FOUND.
AND THEN IN CERTAIN DISEASES IN
THIS CASE, HES, THEY ACCUMULATE
AT VERY HIGH LEVELS.
WE'LL FOCUS ON THAT DISEASE,
WHICH IS VERY RARE, AND ONE THAT
IS -- ON THE RIGHT IS SHOWING A
PATIENT THAT HAS A SWOLLEN
ACCUMULATIONS IN THE ESOPHAGUS
AND DIFFICULTY EATING.
A NUMBER OF YEARS AGO, ELLEN HAD
A PATIENT WHOSE MOTHER CONTACTED
ME AND INQUIRED COULD THEY BE
INVOLVED IN HER CHILD'S PROBLEMS
EATING AND SHE'LL TAKE YOU
THROUGH THAT JOURNEY.
THAT IS HOW WE MET ABOUT 20
YEARS AGO, THROUGH THE INQUIRY
SHE HAD.
AND I RESPONDED TO THAT AND
SINCE THEN, WE BUILT A
PARTNERSHIP THAT IS TRULY MOVED
US ALONG AND SHE IS GOING TO
TAKE YOU THROUGH WHAT SHE HAS
BEEN ABLE TO DO.
>> HI, EVERYBODY.
AND THANK YOU VERY MUCH FOR
HAVING ME.
IN 2003, MY DAUGHTER WAS
DIAGNOSED WITH EEOSINOPHILIC
GASTROARTHRITIS AND I KNEW
NOBODY WHO HAD THIS AND BROUGHT
ME TO CINCINNATI CHILDREN'S
HOSPITAL WHERE I MET THIS
WONDERFUL DR., MARC ROTHERBERG.
AND HE EXPLAINED TO ME THERE
WERE NO FUNDS FOR RESEARCH.
SO MY FIRST GOAL WAS, I DON'T
KNOW HOW, I DON'T KNOW WHERE,
BUT WE ARE GOING TO RAISE MONEY.
AND I HEARD SOMEBODY ASK THE
QUESTION EARLIER, WHAT DO YOU DO
IF YOU DON'T UNDERSTAND KNOW
ANYBODY WITH THIS DISEASE TO
HELP YOU?
AND I KNEW NOBODY WITH THIS
DISEASE AND I WENT HOME AND I
ASKED MY FRIENDS AND FAMILY TO
PLEASE HELP ME START A
FOUNDATION.
SINCE THEN, I CAN TELL YOU WE
RAISED AND DONATED VERY CLOSE TO
7 MILLION DOLLARS TO RESEARCH.
SO THANK YOU.
[ APPLAUSE ]
I'M HAPPY TO WALK THROUGH THE
JOURNEY WITH ANYBODY WHO WOULD
LIKE TO CONTACT ME.
I DON'T KNOW IF MY E-MAIL IS UP
THERE.
I CAN TELL YOU QUICKLY.
ELLYN@CUREDFOUNDATION.ORG.
I'M HAPPY TO HELP WHETHER IT IS
RELATED TO THIS FOUNDATION OR
ANY DISEASE.
BUT THROUGH WORKING WITH
DR. MARC ROTHERBERG, WE LEARNED
HOW MUCH THE PATIENT VOICE WAS
IMPACTED IN RESEARCH.
AND HOW MANY PATIENTS DIDN'T
REALIZE THAT YOU HAVE TO GET
INVOLVED AND YOU HAVE TO SPEAK
AND YOU HAVE TO USE YOUR VOICE
AND YOU HAVE TO SIGN UP FOR
MEDICAL TRIALS AND YOU HAVE TO
BE WILLING TO GIVE OF YOURSELF
AS WELL AS YOU ARE TO EXPECT
YOUR PHYSICIANS TO HELP YOU.
SO THROUGH THAT JOURNEY, VERY
FORTUNATE TO HAVE THE NATIONAL
INSTITUTE OF HEALTH GET INVOLVED
WITH OUR JOURNEY AND I CAN TELL
YOU THIS PAST MAY, WITH CURED
BEING ABLE TO HELP MEDICAL
TRIALS AND WORK WITH SO MANY
DIFFERENT PHYSICIANS.
WE WERE ABLE TO GET OUR FIRST
FDA-APPROVED DRUG FOR THIS
DISEASE.
[ APPLAUSE ]
AND THE PATIENTS ARE GETTING IT
AND IT'S OBVIOUSLY NOT GOING TO
WORK FOR EVERYBODY, BUT SO MANY
PATIENTS ARE FEELING RECOVERY.
WE STARTED THE CONSORTIUM, WHICH
WAS A HUGE DREAM OF MINE THAT WE
WOULD WORK TOGETHER WITH MANY
DIFFERENT DOCTORS FROM MANY
DIFFERENT CENTERS AND THE REASON
WE HAVE THIS CONSORTIUM IS
BECAUSE OF THE NIH AND WE ARE
GRATEFUL FOR THEM PUTTING THIS
TOGETHER BECAUSE OBVIOUSLY MANY
GREAT MINDS WORKING TOGETHER
GETS YOU SO MUCH.
TODAY WE HAD A VERY GREAT
ARTICLE THAT CAME OUT IN MEDICAL
JOURNALS.
WE ARE SO PROUD OF WORKING
TOGETHER WITH THE DOCTORS AND
WHAT SHOCKED ME MOST WHEN WE
STARTED WORKING WITH THE
CONSORTIUM IS, THEY HAVE TO HAVE
PATIENT ADVOCACY GROUPS.
THAT'S PART OF THE DEAL OF THEM
GETTING IN.
MY FIRST THOUGHT WAS, WE ARE
GOING TO SIT SILENT AND ALL
THESE CALLS BUT NOBODY IS REALLY
GOING TO LISTEN TO US.
I CAN TELL YOU EVERY TRIAL,
EVERYTHING THEY DO, THEY ALWAYS
ASK OUR OPINION.
THEY ALWAYS LISTEN TO OUR
OPINION.
THEY WANT TO KNOW HOW THE
PATIENTS ARE FEELING.
WHAT THE PATIENTS NEED AND HOW
THEY CAN HELP THE PATIENT.
THE DOCTORS ARE SO DEDICATED.
WE ARE SO LUCKY TO WORK WITH
THEM.
AND SO LUCKY TO HAVE THE NIH
BEHIND US.
ALWAYS HAPPY TO ANSWER QUESTIONS
IF ANYONE EVER WANTS TO REACH
OUT TO ME.
SO THANK YOU.
>> THIS SLIDE DEPICTS THE TYPES
OF INTERACTIONS TAKING PLACE
WITH PATIENTS THROUGH OUR
CONSORTIUM WITH SIMPLE GI
DISEASE RESEARCH.
WE TURNED TO THE PATIENTS FOR
DIRECTION AND IT'S IMPORTANT
EVERY STEP ALONG THE WAY T
STARTS AT THE BEGINNING OF OUR
RESEARCH FOCUS AND WE DESIGN
TRIALS HELPING US UNDERSTAND
WHAT IS IMPORTANT TO PATIENTS.
WHAT ARE THE OPPORTUNITIES?
WHAT UNIQUE PERSPECTIVES AND
ROLES COULD WE HAVE AS ACADEMIC
RESEARCHERS RATHER THAN COMPANY
RESEARCHERS WITH A DIFFERENT
AGENDA.
WE WORK CLOSELY WITH THE PATIENT
ADVOCACY GROUPS TO RECRUIT
PATIENTS AND IT REALLY IS
CRITICAL, ESPECIALLY FOR RARE
DISEASES TO HAVE THAT TYPE OF
OUTREACH.
THEY HELP US DISSEMINATE THE
FINDINGS.
THEY CERTAINLY HELP US USE THE
INFORMATION WE GATHER TO EDUCATE
THE COMMUNITY WHETHER IT BE THE
OTHER DOCTORS, BUT CERTAINLY
PATIENTS.
THEY HAVE BEEN VERY POLLUTIONAL
IN POLICY MAKING.
I CONGRATULATE ELLEN AND OTHERS
IN OUR AREA WHO IN OUR FIELD
THAT ESTABLISHED NATIONAL
AWARENESS WEEK, APPROVED BY
CONGRESS AND IT'S VERY IMPORTANT
FOR THE RECOGNITION AND ALSO A
NUMBER OF EVENTS THAT TAKE PLACE
DURING THAT WEEK.
THEY HELPED US DIRECTLY AS YOU
SEE WITH FUNDING.
BUT ALSO INFLUENCED DRUG
COMPANIES TO SUPPORT RESEARCH IN
ADDITION TO CLINICAL TRIALS AND
THEY ARE VERY CRITICAL FOR OUR N
CATS SUPPORTED CLINICAL RESEARCH
CONSORTIUM, ESSENTIAL EVOLVED
WITH THE RARE DISEASE CLINICAL
RESEARCH NETWORK.
SO THIS IS A CYCLE AND YOU CAN
SEE IT EVERY PART OF THE WAY.
WHERE IT PROPAGATES THE RESEARCH
AND HELPS US ACCELERATE FINDI
FINDINGS.
THIS IS SOME OF THE SCIENTIFIC
BREAKTHROUGHS THAT IS HAVE TAKEN
PLACE IN MY LAB AND I PUT THIS
UP HERE NOT TO TAKE YOU THROUGH
THE MECHANISMS BUT TO SAY IN
ORDER TO BRING FORTH THE IDEAS
YOU HAVE, WE NEED TO BE ABLE TO
SUPPORT THE SCIENCE.
AND IT STARTS OUT WITH BASIC
SCIENCE, FUNDAMENTAL MECHANISMS
OF DISEASE AND THIS IS ALSO A
SLOW PROCESS BUT IT TAKES ALL
TYPES OF DIVERSE DISCIPLINES TO
COME TOGETHER INCLUDING
GENETICISTS, EPIDEMIOLOGISTS,
STATISTICIANS, STRUCTURAL
CHEMISTS, MEDICINAL CHEMISTS AND
IMMUNOLOGISTS, PARTICULARLY FOR
THIS DISEASE.
THIS ALLOWS US TO UNDERSTAND THE
CAUSE OF THE DISEASE, WORK OUT
MECHANISMS AND DEVELOP CRITICAL
ENTRY POINTS FOR THERAPEUTIC
STRATEGIES AND THEN PARTNER WITH
THE COMPANIES TYPICALLY, TO
DEVELOP THE AGENTS THAT WILL
INTERFERE WHETHER IT BE WITH A
GENE THERAPY AND IN OUR CASE,
SPECIFIC DRUGS WHICH ANTIBODIES,
HUMAN ANTIBODIES INFLUENCE THE
IMMUNE REACTION, PARTICULARLY
CYTOKINES AND TARGET DIFFERENT
ELEMENTS.
THIS IS VERY CRITICAL OF ALL
DISEASES TO INVEST IN THE
SCIENCE.
THIS TAKES YOU THROUGH THE
TIMELINE FOR THE FIRST APPROVAL
WE HAD A NUMBER OF YEARS AGO
WITH ANTIBODY.
IT'S ONE OF THE CYTOKINES WE
IDENTIFIED, INTERLEUKIN 5.
AND THIS TIMELINE ILLUSTRATES A
COUPLE OF IMPORTANT MESSAGES FOR
THIS PARTICULAR DISEASE, ALSO
STARTING OFF IN THE 1980S, QUITE
A LONG TIME AGO, WITH BASIC
OBSERVATIONS REALLY THE
REVOLUTION IN IMMUNOLOGY IN
TERMS OF ELUCIDATING THE CELLS
AND THE CYTOKINES AND
SUBSEQUENTLY THE GENES THAT ARE
INVOLVED.
THE DEVELOPMENT OF FREE CLINICAL
MODELS FOR THE DISEASE AND THEN
WORK WE INITIATED, WHICH WAS
OFTEN WITH PHYSICIAN-SCIENTISTS
WILL DO, WHICH WILL BE TO TRY TO
DEVELOP THE RATIONAL FOR USING
THE BASIC SCIENCE TO HELP
PATIENTS.
AND THIS STARTED OFF WITH WORK
WE INITIATED BECAUSE OFTEN RARE
DISEASES AS WE KNOW, ARE UNDER
FUNDED, UNDER RECOGNIZED AND
THEY NEED TO TAKE PASSION,
INVESTIGATORS STIMULATED BY OUR
INTERACTION WITH THE CURED
FOUNDATION AND PATIENT GROUPS TO
PROPAGATE CONCEPTS THAT WE HAD,
UM PROVE THESE IDEAS WITH THE
SUPPORT AND THE FDA THAT HAS
OFTEN DISEASE GRANT PROGRAM,
WHICH WE ARE FORTUNATE TO
RECEIVE FUNDING FROM THE FDA AND
THEN TO BE VERY PERSIST WANT IN
OUR RESEARCH, BECAUSE OFTEN AS
YOU KNOW, THERE IS A LOT OF
OBSTACLES.
WE HEARD ABOUT IT BEFORE FROM
SOME OF THE PATIENTS.
ALL THE CHALLENGES THEY
ENCOUNTERED UNIQUE TO BE
PERSISTENT AND INDEED WE WERE
ABOUT 15 YEARS OF PUTTING
THROUGH VARIOUS IDEAS AND
CONCEPTS THAT WE PROVED WERE
IMPORTANT, PROOF OF PRINCIPLE
FOR STUDIES IN HUMANS.
IT ALLOWED US TO DEVELOP
CONVINCING EVIDENCE AND DRUG
COMPANIES WHICH ULTIMATELY COME
AT THE END OF THESE CONCEPTS AND
WILL THEN FIND THIS DATA TO BE
CONSISTENTING, REDUCING THE RISK
FOR THE COMPANY TO GET INVOLVED
AND SUBSEQUENTLY THE COMPANIES
TAKEN OVER BUT IN PARTNERSHIP
WITH US TO PROVE THAT THEY ARE
IN CONJUNCTION WITH THE
AGREEMENTS BY THE FDA AND IN
THIS CASE, YOU CAN SEE THE LONG
JOURNAL THEY TOOK PLACE.
ONE OF THE GOALS OF THE RARE
DISEASE CLINICAL RESEARCH
NETWORK IS TO DEVELOP CONDITIONS
THAT ARE RIGHT FOR THE RARE
DISEASE SO THAT THE COMPANIES
AND OTHER KEY STAKEHOLDERS WILL
BE INTERESTED AND READY AND
EXCITED ABOUT ENGAGING THE FINAL
STAGES OF RESEARCH AND THERE IS
CLINICAL TRIAL READINESS.
AND THIS IS CERTAINLY A FOCUS OF
OUR WORK AS WELL.
AND IN TERMS OF THE OTHER
DISEASE, WE JUST HAD APPROVAL IN
2022.
YOU CAN TAKE A LOOK AT THE STEPS
THAT TOOK PLACE HERE.
ONE OF THE THINGS YOU NOTICE,
THE STEPS ARE FAIRLY SIMILAR.
ONE IS IT DOES TAKE A LONG TIME.
IT DOES START WITH BASIC SCIENCE
OBSERVATIONS OFTEN IN
PRE-CLINICAL MODELS, BASIC
IMMUNOLOGY DISCOVERIES.
THE PATIENT ADVOCACY GROUPS
CURED, AND ANOTHER PARTNER
ORGANIZATION WORKING TOGETHER TO
HELP US DEVELOP A RESEARCH
AGENDA AND THEN TRANSLATIONAL
EXPERIMENTS OFTEN WITH
REPOSITORIES WE HEARD ABOUT
EARLIER, AND IMPROVED SCIENTIFIC
THEORIES IN VITRO AND ULTIMATELY
GOING INTO HUMANS SO YOU CAN SEE
FIRST INFUSIONS WITH PROOF OF
ONE SEPTEMBER STUDIES 10-15
YEARS AGO AND THEN DEVELOPING
EARLY-STAGE POSITIVE DATA ON
PHASE II DATA AND DRUG COMPANIES
PARTNERING AT THE FINAL STAGE II
TO GET DRUGS APPROVED AND IT WAS
A VICTORY FOR SCIENCE AND RARE
DISEASE RESEARCH AND PATIENT
ADVOCACY TO HAVE THE APPROVAL OF
THIS FIRST DRUG FOR PATIENTS 12
AND OVER JUST IN MAY OF LAST
YEAR.
IT WAS REALLY EXCITING T SHOWS
THE COMMUNITY IMPORTANCE WAS
THAT THE FDA WORKED CLOSELY WITH
THE DRUG COMPANIES AND THE
PATIENT ADVOCACY GROUPS SO THE
DRUG WAS APPROVED DURING THE
ESENPHILIC AWARENESS WEEK.
I WAS IN MY OFFICE FRIDAY AT
2:00 P.M. WHEN THE E-MAIL CAME
OUT AND MESSAGE CAME OUT FROM
THE FDA IT WAS APPROVED.
SO OBVIOUSLY WORKING HARD THAT
WEEK.
IT WAS THE END OF THE WEEK AND
IT WASN'T A COINCIDENCE.
SO CONGRATULATIONS TO THE
PATIENT ADVOCACY AND ALSO
KNOWING THE FDA IS AN ADVOCATE
TO TRY TO HELP US IMPROVE
PATIENT'S LIVES.
AND THAT IS IMPORTANT TO INVOLVE
THEM DURING THE RESEARCH
PROCESS.
I WANTED TO JUST SUMMARIZE SOME
OF THE CONTRIBUTORS TO THE
SUCCESS AND THE TREATMENT OF
THESE RARE DISEASES HAVE BEEN,
WHICH IS ONE LONG TERM
COMMITMENT, TWO PATIENT
PARTNERSHIP AND SUPPORT,
PHILANTHROPIC AND FINANCIAL
SUPPORT SO WE CAN GET FUNDING IN
AREAS THAT WEREN'T NECESSARILY
CONVENTIONAL FOR TRADITIONAL
GRANTS LIKE THE NIH AND CURE
FOUNDATION DONATING MILLIONS OF
DOLLARS TO HELP OUR RESEARCH
THROUGHOUT THE U.S. TO
SUBSTANTIATE THIS DISEASE AS A
REAL BONA FIDE PROBLEM AND ALSO
SUPPORTING THE BASIC AND
TRANSLATIONAL RESEARCH.
INVESTMENT IN BASIC SCIENCE
EMPHASIZING THAT AND ALSO
TRANSLATIONAL SCIENCE.
PROOF-OF-CONCEPT STUDIES,
PRE-INDUSTRY IN OUR CASES AND
THEN THE CLINICAL TRIAL
READINESS TO THEN ALLOW
PARTNERSHIPS WITH THE DRUG
COMPANIES AND ULTIMATELY
ENGAGEMENT OF THE KEY
STAKEHOLDERS AND AGREEMENTS
TAKING PLACE BETWEEN COMPANIES
AND THE FDA AND INVOLVING THE
NIH, IN OUR CASE, WITH THE
PATIENT ADVOCACY GROUPS.
SO I WANTED TO CLOSE BY ANOTHER
EXAMPLE OF THE COMMUNITY, THE
ALIGNMENT THAT TAKES PLACE AND
THAT HAPPENED JUST TODAY OR LAST
NIGHT BECAUSE -- THIS IS A STUDY
WE WERE DOING FOR ABOUT 5 YEARS.
IT WAS FUNDED BY THE NIH THROUGH
THE RARE DISEASE CLINICAL
RESEARCH CONSORTIUM.
IT INVOLVED 10 DIFFERENT SITES
WORKING TOGETHER ACROSS THE U.S.
TO TEST THE THEORY THAT THE
PATIENTS BROUGHT TO OUR
ATTENTION WHICH WAS THE BUSINESS
OF REALLY TOUGH DISEASE.
BECAUSE PATIENTS DON'T HAVE A
GOOD DIET, OFTEN ARE ON SOME
CASES A LIQUID DIET.
WE TESTED THE POSSIBILITY THAT
AVOIDING ONLY ONE FOOD COULD BE
EFFECTIVE COMPARED TO AVOIDING A
LARGE NUMBER OF FOODS, IN THIS
CASE SIX DIFFERENT FOODS.
IN ANY EVENT WE WORKED HARD TO
FIND THESE PATIENTS IN 129
PATIENTS WHICH TOOK A COUPLE OF
YEARS OF WORKING TOGETHER WITH
THE PATIENT ADVOCACY GROUPS.
AND THEN SHOWING SURPRISING
RESULTS, WE SHOW THE ONE FOOD
WAS JUST AS EFFECTIVE AS
AVOIDING SIX FOODS AND THEN WE
HAD VERY STRONG INTERESTS IN
THIS ARTICLE BY A LEADING
JOURNAL, LANCET GI JOURNAL, AND
WITHIN A COUPLE OF WEEKS, THEY
ACCEPTED THE ARTICLE AFTER WE
WORKED ON IT FOR A YEAR, EVEN
THE DATA WAS COMPLETED.
WE JUST PUT IT ALL TOGETHER IN
THE WRITTEN COMMUNICATION.
AND THEN N CATS ALONG WITH OTHER
BRANCHES, PARTICULARLY NIAID AND
NIDDK, WHICH HOST OUR GRANT,
THEY COME OUT WITH A PRESS
RELEASE, PARTICULARLY TIMING
THAT SO THERE COULD BE A RELEASE
LAST NIGHT WITH RARE DISEASE
DAY.
AND THE LANCET JUMP IS ALSO
COOPERATING WITH THAT.
-- JOURNAL.
THEY RELEASED THEIR DATA IN
CONJUNCTION WITH THIS DATA
TODAY.
IT'S A VICTORY FOR ALL OF YOU
AND I THINK IT'S EXEMPLARY TO
KNOW THAT DISEASES CAN BE
TREATED EFFECTIVELY BUT IT'S
ALSO HELPFUL BECAUSE ELLEN MAY
TELL YOU ALSO, THERE IS STILL
TOO MANY PEOPLE SUFFERING AND
MUCH MORE WE NEED TO DO.
THESE ARE STEPS WE TAKE TO
IMPROVE LIFE MORE HAS TO OCCUR.
AND THANK YOU FOR YOUR ATTENTION
AND I WOULD LIKE ELLEN TO SAY
CONCLUDING COMMENTS.
>> I JUST WANT TO ADD, AS WELL
AS SOME OF THE OTHER THINGS I
SPOKE ABOUT AT THE CURE
FOUNDATION, WE HOSTED A
EDUCATION CONFERENCE IN WEST
CINCINNATI CHILDREN'S HOSPITAL
AND DR. MARC ROTHERBERG.
WE DO IT EVERY OTHER YEAR BUT
IT'S GROWN AND WE INVITED
INDUSTRY.
WE INVITED FDA AND THEN PAIRING
THE PATIENT STORIES AS WELL AS
ALL THE RESEARCH.
AND NOW THEY REACH OUT TO
PATIENT ADVOCATES AND THEY SAY,
WILL YOU WORK WITH US?
THE INDUSTRY, THE FDA I WANT TO
HEAR OUR STORIES.
IT MOTIVATES THEM.
SO I CAN'T URGE YOU ENOUGH TO
SPEAK UP BECAUSE EVERYTHING YOU
DO MATTERS.
EVERYTHING YOU SAY MATTERS.
AND I HEARD SOMEBODY ELSE SAY,
GET INVOLVED.
I KNOW GOOGLE IS NOT A GOOD
PLACE TO SEARCH BUFFETS BOOK HAS
REALLY HELPED MANY DIFFERENT
RARE DISEASES.
WE HOST A FACEBOOK SUPPORT GROUP
WITH 16,00500 MEMBERS.
SO FAMILY MEMBERS COME TO LEARN,
GET INVOLVED HOWEVER YOU CAN.
IF YOU'RE LOOKING TO RAISE
MONEY, FACEBOOK ALSO IS A GREAT
PLACE.
THEY HAVE -UE CAN FUND RAISE ON
FACEBOOK.
YOU CAN START LITTLE FUNDRAISERS
IN YOUR HOME BY HAVING YOUR KIDS
SET UP A LEMONADE STAND.
I MEAN, EVERY DOLLAR ADDS UP AND
ALL OUR SINGLE DOLLARS ADDED UP
TO CLOSE TO 7 MILLION DOLLARS.
SO YOU CAN DO IT.
AND WE'RE LUCKY TO HAVE SOME
WONDERFUL DOCTORS, RESEARCHERS
AND INDUSTRY AND FDA JUST ALL
WORKING TOGETHER FOR OUR RARE
DISEASE.
AND I BELIEVE THAT ALL OF YOU
HAVE A LOT OF HOPE FOR YOUR
DISEASES BECAUSE 16 YEARS AGO MY
DAUGHTER WAS TOLD SHE COULDN'T
HAVE FOOD.
NOTHING BY MOUTH EXCEPT FOR
LIQUID FORMULA.
AND NOW TODAY, SHE IS ON A TRIAL
DRUG AND EATING PRETTY MUCH A
VEGAN DIET, WHICH IS WONDERFUL.
SO I JUST WANT YOU ALL TO KEEP
YOUR HOPE.
>> THANK YOU.
>> THANK YOU FOR SHARING YOUR
STORY.
FOR THE INTEREST OF TIME, WE'RE
GOING TO KEEP MOVING FORWARD.
I DID WANT TO MENTION
DR. ROTHENBERG AND ELLEN, YOU
HAD A SPECIAL VISITOR IN THE
AUDIENCE FOR YOU TODAY.
WE HAVE A FUTURE KINGS
RESEARCHER RAISING HIS HAND OVER
THERE.
HE CAME JUST TO HEAR YOUR STORY.
SO THEY MIGHT WANT TO TALK TO
YOU FOR A LITTLE BIT OUTSIDE.
WE HOPE YOU HAVE ENJOYED OUR
SERIES OF RARE STORIES SO FAR.
THIS AFTERNOON WHERE WE FIRST
STARTED OFF WITH SHOWING THAT
RESEARCH EQUALS HOPE.
WE THEN TALKED ABOUT THE
PRE-CLINICAL TOOLBOX.
WE SHOWED AN EXAMPLE OF
SUCCESSFUL IND FILING AND JUST
HEARD STORIES OF SUCCESSFUL DRUG
APPROVAL.
WE ARE GOING TO CONTINUE TALKING
IN THIS THEME OF RARE DISEASE
THERAPEUTICS.
BUT THIS TIME WE'RE GOING TO BE
FOCUSING ON THAT ADVOCACY AND
INDUSTRY COLLABORATION.
>> GOOD AFTERNOON.
IT'S TRULY AN HONOR TO MODERATE
THIS SESSION TODAY ON RARE
DISEASES, THERAPEUTICS AND THE
ROLE OF INDUSTRY AND ADVOCACY
COLLABORATIONS.
THIS IS A TOPIC THAT I'M
ESPECIALLY EXCITED ABOUT SO I'VE
HAD THE HOPPER OF BEING A BRIDGE
BETWEEN INDUSTRY AND ADVOCACY
WITH A SPECIAL FOCUS IN RARE
DISEASES FOR QUITE SOME TIME.
WE HAVE AN AMAZING PANEL TODAY,
SAVED THE BEST FOR LAST.
EVERYTHING WAS GREAT SO FAR.
BUT, THIS PANEL IS AMAZING.
THE PANELISTS THAT HAVE JOINED
US, SO I'D LIKE TO GO AHEAD AND
INTRODUCE THEM ON THE STAGE WE
HAVE SHARON KING, A PASSIONATE
PATIENT ADVOCATE AND RARE
DISEASE THOUGHT LEADER WHO IS
UNIFIED PUBLIC OFFICIAL
RESEARCHERS, BIOTECH, INDUSTRY
REPRESENTATIVES AND OTHER
PATIENT ADVOCATES TO CATALYZE
RARE DISEASE TREATMENT
DEVELOPMENT AND CRITICAL PUBLIC
POLICIES.
SHE IS THE MANAGER OF ADVOCACY
AND COMMUNITY ENGAGEMENT AT
ALDEVRON, A LEADING MANUFACTURER
OF BIOLOGICS.
SHARON ALSO CO-FOUNDED AND
SERVES AS PRESIDENT OF TAILOR'S
TAIL.
YOU'LL LEARN THERE IS A LOT OF
PERSONAL PASSION IN RARE
ADVOCACY.
THIS WORKS TO RAISE AWARENESS
AND FUNDING FOR CLN1 FATTY
DISEASE RESEARCH.
SHE IS ALSO A STATE APPOINTED
MEMBER OF THE NORTH CAROLINA
ADVISORY COUNCIL ON RARE
DISEASES.
SHARON, THANK YOU FOR BEING
HERE.
IT MEANS A LOT.
WE ARE ALSO JOINED TODAY BY
SANDRA ABREVAYA AND BRIAN
WALLACH.
PROBABLY THE MOST INSPIRING
COUPLE THAT I KNOW.
TRULY HONORED FOR YOU TO BE HERE
TODAY.
I'LL START WITH SANDRA.
SANDRA IS THE MOM OF SPUNKY 5
AND 7-YEAR-OLD GIRLS.
SHE IS A FORMER FOUNDING CEO
WITH A NONPROFIT SECTOR AND HAS
SERVED IN SENIOR ROLES -- THERE
IS A LOT -- FOR THE CITY OF
CHICAGO, THE U.S. HOUSE OF
REPRESENTATIVES, THE U.S.
SENATE, THE U.S. DEPARTMENT OF
EDUCATION AND THE WHITE HOUSE.
SHE IS MARRIED TO BRIAN AND IS
CAREGIVER FOR HIM WHEN HE WAS
DIAGNOSED WITH ALS IN 2017.
THETHEY WERE 37 YEARS OLD AND HD
THEIR WHOLE LIVES AHEAD OF THEM.
I THINK YOUR YOUNGEST WAS JUST
BORN THE DAY THAT BRIAN WAS
DIAGNOSED.
SANDRA CO-FOUNDED I AM ALS WITH
HER HUSBAND, TO DRIVE AN
IMPACTFUL ADVOCACY AGENDA BASED
ON COMMUNITY ORGANIZING
PRINCIPLES, WHICH THEY KNOW
WELL.
AND I HAVE TO MENTION THIS
BECAUSE BRIAN, I LOVE IT.
YOU HAVE TO CHECK OUT THEIR
TRAILER FOR THE MARRIED
CAMPAIGN.
IT'S AMAZING.
>> THANK YOU.
>> NEXT I'D LIKE TO INTRODUCE
BRIAN WALLACH, CO-FOUNDER AND
BOARD CO-CHAIR I AM ALS.
AND HE WAS DIAGNOSED IN
NOVEMBER, 2017.
SINCE THEN, HE HAS BECOME A
OUTSPOKEN WELL-KNOWN AND
IMPACTFUL PATIENT ADVOCATE.
MANY OF YOU WHO GO ON SOCIAL
MEDIA AND TWITTER MAY KNOW BRIAN
FROM HIS HASHTAG --
[ INAUDIBLE ]
HERE'S AN AVID SKIIER WHO RAN
THE 400 AT YALE.
IN ADDITION TO CO-FOUNDING THE
NONPROFIT I AM ALS, BRIAN WAS AN
ASSISTANT U.S. ATTORNEY IN THE
NORTHERN DISTRICT OF ILLINOIS.
HE ALSO SERVED AS THE SENIOR
COUNSEL AT THE WHITE HOUSE IN
THE OBAMA ADMINISTRATION.
SANDRA AND BRIAN, I'M SO HONORED
TO HAVE YOU BOTH TODAY.
>> THANK YOU FOR HAVING US AND
FOR LETTING US JOIN FROM
CHICAGO.
WE SEE SO PRIVILEGED TO BE HERE.
>> NEXT ON THE STAGE IS KRISTEN
WHEEDEN KNOWN FOR A LONG TIME.
KRISTEN IS A FIERCE ADVOCATE FOR
PATIENTS AND THEIR FAMILIES AND
IS AN INTERNATIONALLY-RECOGNIZED
ADVOCATE FOR PORE FERIA AND RARE
DISEASES.
WHEN HER SON WAS DIAGNOSED, ONE
OF EIGHT MAJOR TYPES OF
POUTHERRIA, KRISTEN LEFT HER
CAREER AND PIVOTED INTO THE
WORLD OF RARE DISEASES SHE
QUICKLY BECAME A RESOURCE FOR
DOCTORS AS MANY OF RARE DISEASE
PATIENTS, CAREGIVERS KNOW,
YOU'RE THE RESOURCE TO DOCTORS.
I KNOW THAT FROM PERFORM
PERSPECTIVE TOO.
IN 2022, KRISTEN LAUNCHED THE
UNITED POUTHERRIA ASSOCIATION
AND THIS INTERNATIONAL
ORGANIZATION IS SUPPORTED BY
SCIENTIFIC ADVISORY BOARD AND
EXPERTS AND INNOVATORS AND RARE
DISEASES.
KRISTEN ALSO SERVES AS THE
PRESIDENT OF THE ORGANIZATION, A
MEMBER OF NIH-SUPPORTED
CONSORTIUM STEERING COMMITTEE
AND SERVES ON NUMEROUS BOARDS
AND PUBLISHING.
AND FINALLY A WARM WELCOME TO
JENNIFER BECK.
JENNIFER IS A MOTHER OF 4 AND AN
OCCUPATIONAL THERAPIST WHO HAS
BEEN LIVING WITH EPP SINCE
BIRTH.
JENNIFER WAS DIAGNOSED AS AGE 40
WHEN HER MOTHER CALLED HER TO
TELL HER ABOUT AN EPISODE OF
MEDICAL MYSTERIES THAT SOUNDED
JUST LIKE HER.
WHEN HER EPP WORSENED, SHE
FIERCELY PURSUED TREATMENT AND
WENT FROM LIVING IN THE DARK IN
CONSTANT PAIN AND FEAR TO LIFE
IN THE LIGHT.
IT'S REALLY SPECIAL TO HAVE YOU
HERE IN PERSON.
BEFORE WE GET STARTED WITH THE
DISCUSSION TODAY.
AND WE ARE RUNNING OVER THE
TIME, BUT I THINK IT'S REALLY
IMPORTANT TO TOUCH ON SOME
REMINDERS ON WHERE WE ARE IN THE
RARE DISEASE LANDSCAPE AND
REALLY SET THE TONE FOR WHY THE
ROLE OF INDUSTRY AND ADVOCACY IS
REALLY IMPORTANT FOR REALLY
DRIVING MORE PROGRESS.
WE HEARD A LOT OF THIS ALREADY
TODAY AND I'M GOING TO TOUCH ON
IT AGAIN.
CLINICAL TRIALS, RARE DISEASE
CLINICAL TRIALS, ARE REALLY HARD
TO START AND EVOLVE.
RELATIONSHIPS WITH ADVOCACY AND
INDUSTRY CAN REALLY MAKE IT OR
BREAK IT FOR KIN CALL TRIALS.
-- CLINICAL TRIALS.
WE REALLY NEED TO UNDERSTAND
WHERE THE PATIENTS ARE AND THIS
IS REALLY IMPORTANT ALSO TO
IMPROVE THE DIVERSE PER
PARTICIPATION IN RARE DISEASE
TRIALS.
WE KNOW WE HEARD THIS 7000 PLUS
RARE DISEASES AND THE NUMBER IS
ACTUALLY HIGHER.
I'LL STICK WITH THE 700,000 PL
PLUS.
BUT ONLY A FEW HUNDRED
TREATMENTS ARE FDA APPROVED.
SOME IMPROVING QUALITY OF LIFE,
SOME ELONGATING LIFE.
IT JUST VARIES AND SOME MAY NOT
EVEN HAVE AN IMPACT FOR SOME
PATIENTS.
SOME ARE NOT EVEN WELL
UNDERSTOOD AND RARE DISEASES AND
TO BE SERIOUS, LIFELONG COMPLEX.
THAT GIVES YOU A REALLY QUICK
OVERVIEW WHERE WE ARE.
SO I'D LIKE TO GET STARTED WITH
OUR SESSION.
SHARON, AS A MEMBER OF INDUSTRY,
AND ONE WHO IS REALLY DEDICATED
YOUR LIFE TO RARE DISEASE
ADVOCACY, CAN YOU TALK ABOUT THE
CHANGES THAT YOU HAVE SEEN, WHAT
IS REALLY IMPORTANT?
START FROM YOUR PERSONAL
EXPERIENCE.
>> SHARON KING: THANK YOU.
I THINK YOU KNOW TODAY WE HAVE
HEARD -- WE CONTINUE TO HEAR
SIMILAR THINGS.
WE ARE HEARING THE POWER OF
PARTNERSHIP.
WE ARE HEARING DON'T EVER GIVE
UP.
WE ARE HEARING HOPE.
AND I THINK THAT THOSE THEMES
RESONATE FOR ALL OF US.
I KNOW THAT THEY DO FOR ME, FROM
THE DAY MY DAUGHTER WAS
DIAGNOSED TO THIS VERY MOMENT.
IN MY ROLE AT ADLEVRON I'M
INTERNALLY FOCUSED.
I'M NOT WORKING DIRECTLY WITH
PATIENTS.
BUT IF I HAD TO DESCRIBE MY ROLE
TO YOU IN A COUPLE OF WORDS, IT
WOULD BE, I'M A STORYTELLER.
BECAUSE I CONNECT THOSE PATIENT
STORIES THAT ARE SO IMPORTANT.
AND I THINK THAT HAS BEEN ONE OF
OUR MAJOR THEMES TODAY.
THAT WHEN WE LISTEN, AND WE
UNDERSTAND THE PATIENT
EXPERIENCE, WE CAN START TO MAKE
PROGRESS.
AND SO, I BRING THOSE STORIES,
THOSE CONNECTIONS TO THE PATIENT
EXPERIENCE AND THE URGENCY, THAT
DEEP URGENCY, THAT PATIENTS FEEL
AS THEY ARE WAITING FOR A
POTENTIAL THERAPY.
BECAUSE AS WE ALL KNOW, MANY
RARE DISEASE PATIENTS DON'T HAVE
A MEANINGFUL TREATMENT TO RELY
ON.
BUT EVERY DAY, THEIR HOPEFUL FOR
THAT TREATMENT.
SO, AND I UNDERSTAND THAT NEED
AND THAT URGENCY SO WELL BECAUSE
IN JULY OF 2006, JUST AS MANY OF
YOU IN THIS AUDITORIUM AND
LISTENING VIRTUALLY, I HEARD A
GENETICIST DELIVER THAT
DIAGNOSIS, THAT CHANGED MY LIFE
IN A MOMENT'S NOTICE.
IT CHANGED MY FAMILY'S LIFE IN
THAT VERY MOMENT.
AND WE'VE NEVER BEEN THE SAME.
WE LEARNED THAT OUR DAUGHTER
WOULD LOSE HER VISION, WOULD
LOSE HER ABILITY TO WALK, TO
TALK, TO SWALLOW.
AND WHEN THIS DISEASE HAD STOLEN
ALMOST EVERYTHING IT COULD, IT
WOULD TAKE HER LIFE.
AND WHEN WE ASKED WHAT MOST ANY
PARENT WOULD ASK FOR QUESTIONS,
WHAT DO WE DO?
WHERE DO WE GO?
WE LEARNED THIS DISEASE IS SO
SMALL.
THERE IS NOT GOING TO BE AN
ANSWER FOR TAILOR IN HER
LIFETIME AND MOST LIKELY IN YOUR
LIFETIME.
AND I HAVE TO TELL YOU, THAT
WAS -- IT FELT SO HOPELESS.
AND FOR ME, HOPE IS LIKE AIR.
I NEED HOPE EVERY DAY.
IT'S WHAT KEEPS ME GOING.
IT'S WHAT KEEPS US ALL GOING.
SO, IT TOOK ME ALL OF ABOUT AN
HOUR-AND-A-HALF OF SITTING IN A
HOT CAR IN A HOT, HUMID SUMMER
DAY IN CHARLOTTE TO DECIDE THAT
I COULD NOT WATCH THIS HAPPEN TO
MY DAUGHTER.
I WAS GOING TO HAVE TO DO
SOMETHING BECAUSE I WAS GOING TO
HAVE TO LIVE THIS ALONG WITH
HER.
I KNEW A COUPLE OF THINGS.
I HAD TO LEARN EVERYTHING I
COULD ABOUT THIS DISEASE.
SECONDLY, I WAS NOT GOING TO BE
ABLE TO DO THIS BY MYSELF.
I WAS GOING TO HAVE TO HAVE AN
ARMY ALONG WITH ME.
AND I ALSO KNEW STRATEGICALLY, I
WAS GOING TO HAVE TO HAVE PEOPLE
THAT COULD FILL IN THE GAPS, THE
THINGS THAT I WAS NOT GOOD AT,
THE SKILL SETS THAT I DON'T
HAVE, THEY WERE GOING TO HAVE TO
FILL IN THOSE GAPS SO WE COULD
ACHIEVE THIS BIG GOAL, THIS BIG
DREAM.
SO, FRIENDS, FAMILY, CAME
TOGETHER AND WE WERE ABLE TO PUT
TOGETHER AN ORGANIZATION THAT
WAS CLEARLY FOCUSED ON RAISING
THE FUNDS TO SUPPORT RESEARCH.
AND VERY QUICKLY, BY 2013, WE ON
FEBRUARY 28, 2013 -- SO 10 YEARS
AGO TODAY -- WE ANNOUNCED OUR
SUPPORT OF A GENE THERAPY FOR
CLN1 DISEASE.
THAT WAS 10 YEARS AGO.
THAT'S A REALLY LONG TIME.
WE'RE GETTING CLOSER AND CLOSER
TO CLINIC BUT WE ARE STILL
WAITING.
AND THAT'S WHY, WHEN I LEARNED
ABOUT, FOR INSTANCE, THE GENE
THERAPY CONSORTIUM, I WAS SO
EXCITED TO HEAR ABOUT THE GOALS
FOR THIS INITIATIVE.
>> AND I FORGOT TO MENTION THAT
SHARON SERVES AS A PATIENT
ADVOCATE REPRESENTATIVE ON THE
BE SPOKE GENE THERAPY CONSORTIA.
>> THANK YOU.
SO, THE THINGS THAT WERE -- HAVE
BEEN DIFFICULT FOR TAILOR'S
TAIL, IS WE HAVE BEEN PART OF
THIS LONG JOURNEY TO A GENE
THERAPY.
WHEN I LOOKED AT THE GOALS TO
DRIVE GREATER EFFICIENCIES, MORE
EFFECTIVE GENE THERAPIES,
POTENTIALLY LESS EXPENSIVE.
HOW COULD WE BRING DOWN THE COST
OF GENE THERAPY?
I WAS JUST EXCITED TO ACTUALLY
HAVE A CHANCE TO PARTICIPATE
THROUGH MY EMPLOYER.
AND I AM VERY HOPEFUL.
THERE I GO AGAIN.
BUT THAT KEYWORD, FOR WHAT THIS
INITIATIVE CAN ACHIEVE.
OVER HALF OF PATIENTS LIKE MY
DAUGHTER.
>> THANK YOU, SHARON.
I'D LIKE TO TURN THE NEXT
QUESTION TO SANDRA AND BRIAN.
WHAT ROLE HAS IMALS -- I AM ALS,
PLAYED IN INFORMING THE PATIENT
COMMUNITY IN CLINICAL TRIALS AND
HOW DID YOU STRUCTURE THE
ENGAGEMENT?
THERE IS A LOT SMALLER
ORGANIZATIONS CAN LEARN FROM Y
YOU.
>> BRIAN WALLACH: WE DID TWO
THINGS, NUMBER 1, WE PUT
TOGETHER A PLATFORM.
IT HAD EVERY ALS CLINICAL TRIAL
LISTED ON IT.
THAT WAY WE COULD HAVE THE MOST
COMPREHENSIVE LISTING OF TRIALS
THAT WERE AVAILABLE TO PATIENTS
IN THE U.S. AND BEYOND.
AND NUMBER 2, WE CREATED A
CLINICAL TRIAL TEAM THAT WORKED
WITH EVERY COMPANY TO HELP
INFORM HOW THEY DESIGNED THEIR
CLINICAL TRIALS.
AND WE SHARED INFORMATION ABOUT
THE DESIGN AS PART OF A RATING
SYSTEM THAT WE MADE PUBLIC.
AND THAT WAY, WE ARMED THE
PATIENT WITH INFORMATION ABOUT
THE TRIAL THAT THEY SAW ON OUR
WEBSITE.
AND WE WERE ABLE TO WORK WITH
INDUSTRY TO MAKE TRIALS MORE
PATIENT FRIENDLY AND TO ENSURE
THAT PATIENTS AND CAREGIVERS
WERE PART OF THE PROCESS FOR
DESIGNING THE TRIAL.
ONCE WE DID THAT, WE SHARED IT
EVERYWHERE BECAUSE WE WANTED TO
REACH AS MANY PEOPLE AS
POSSIBLE.
AND ONE IMPORTANT THING ABOUT
THAT EXPERIENCE IS THAT WE FOUND
THAT PATIENTS WANT MORE
INFORMATION AND THEY WANT HELP
DECIDING BETWEEN CLINICAL
TRIALS.
NOW IF YOU HAVE A RARE DISEASE,
THAT DOES NOT HAVE THE NUMBER OF
TRIALS THAT ALS DOES, WE ARE
TRYING TO CREATE A PLAY BOOK
THAT YOU CAN USE SO THAT YOU DO
NOT HAVE TO REINVENT THE WHEEL
IN TERMS OF WORKING WITH
INDUSTRY AND RESEARCH.
THAT WAY YOU CAN LEARN FROM WHAT
WE DID WELL AND MORE IMPORTANTLY
WHAT WE MESSED UP.
THERE ARE A LOT OF THINGS WE
MESSED UP.
BUT AT THE END, WE HAVE BUILT A
GREAT RELATIONSHIP WITH INDUSTRY
AND WE ARE WORKING TOGETHER.
WE'RE WORKING TOGETHER TO HELP
ADVANCE AS MANY TREATMENTS AS
POSSIBLE BECAUSE IT IS IN ALL OF
OUR INTERESTS TO HAVE A FULL
PIPELINE.
ONE OTHER THING IS THAT IN DOING
THIS IN YOUR OWN DISEASES, DO
NOT BE AFRAID TO ASK QUESTIONS
OR TO ASK PEOPLE TO HELP.
THAT WAY YOU HAVE THE ABILITY TO
EMPOWER YOURSELF AND TO IDENTIFY
THE GAPS THAT YOU CAN HELP FILL
AND DRIVE FORWARD THROUGH A
TREATMENT -- TO A TREATMENT.
>> THAT'S AMAZING.
THANK YOU.
IT TRULY -- I THINK IT'S THAT
SURVEY THAT YOUR TEAM DID IN
REALLY REACHING OUT TO NOT JUST
THE PATIENT COMMUNITY, BUT THE
CAREGIVER COMMUNITY AND GETTING
REALLY MEANINGFUL OUTCOMES THAT
MATTERED TO THE FAMILIES.
THANK YOU.
THAT'S GREAT.
I'M GOING TO TURN THE NEXT
QUESTION TO KRISTEN.
KRISTEN, YOU HAVE DONE A LOT OF
WORK IN THE PORE FERIA
COMMUNITY.
CAN YOU TALK ABOUT THE PROGRESS
THAT HAS BEEN MADE IN WORKING
WITH ADVOCACY AND INDUSTRY AND
THOSE COLLABORATIONS?
>> KRISTEN WHEEDEN: THANK YOU
VERY MUCH.
I FEEL SO HUMBLED TO BE ON STAGE
WITH THESE FELLOW ADVOCATES AND
CAREGIVERS.
AND LITERALLY BRIAN, YOU'RE
ABOVE MY HEAD, LIKE
LARGER-THAN-LIFE.
AND I FOLLOW YOU ON TWITTER.
YOU'RE AMAZING.
>> HARD TO NOT TEAR UP UP HERE.
>> IT IS.
SO THERE ARE EIGHT MAIN TYPES OF
FOREFERIA.
AND THERE ARE 7-10,000 RARE
DISEASES WITH ONLY 95% OF THEM
THAT DON'T HAVE TREATMENT.
WITHIN THE PORE FERIAS WE HAVE
THREE FDA APPROVED TREATMENTS.
THE FIRST ORPHANED DRUG APPROVED
AFTER THE ONE IN 1983 AND THE
MANUFACTURER IS HERE EXHIBITING
HERE TODAY, A TERRIFIC INDUSTRY
PARTNER.
AND THEN WE WAITED UNTIL OCTOBER
OF 2019 FOR SNYESS, A TREATMENT
FOR ERYTHRO PRO ETIC PORE FERIA.
AND THEN LAST, WE HAVE THIRD FDA
APPROVED TREATMENT THAT CAME A
MONTH LATER IN NOVEMBER OF 2019.
I WAS AT A COALITION OF PATIENT
ADVOCACY GROUP MEET WHEN THAT
WAS ANNOUNCED AND TINA PULLED ME
UP IN FRONT OF THE MICROPHONE TO
ANNOUNCE IT IN FRONT OF THE
GROUP.
IT TAKES PATIENTS.
IT TAKES RESEARCHERS.
IT TAKES EXPERT PHYSICIANS,
INDUSTRY PARTNERS, REGULATORS,
ALL WORKING TOGETHER, NOT ONE
MORE IMPORTANT THAN THE OTHER,
TO MAKE PROGRESS AND TO CREATE
INNOVATION AND CHANGE AND MORE
APPROVED THERAPEUTICS.
WHICH KIND OF BEGS THE QUESTION
OF WHO IS THE EXPERT IN THIS?
WE ACTUALLY HAD A PANEL RECENTLY
WHERE THEY HAD A PORPHYRIA
MEETING AND TYPICALLY A PANEL
WOULD BE A GROUP OF PHYSICIANS
UP ON STAGE AND THE PATIENTS ARE
IN THE AUDIENCE.
IT'S CALLED ASK THE EXPERTS.
WE DECIDED TO FLIP THE NARRATIVE
AND WE HAD THE PATIENTS ON STAGE
AND THE GROUP OF PHYSICIANS IN
THE AUDIENCE ASKING QUESTIONS.
AND IT WAS JUST A TERRIFIC WAY
TO SHOW THE PATIENT EXPERTISE.
AND AS WE KNOW, PATIENTS SHOULD
BE AT THE CENTER OF EVERYTHING.
THEY SHOULD BE INVOLVED IN
EVERYTHING.
THEY SHOULD BE INVOLVED IN
DESIGNING CLINICAL TRIALS.
THEY SHOULD BE INCLUDED IN
FIGURING OUT A MEANINGFUL
ENDPOINT.
AND OF COURSE, PARTICIPATING IN
THE CLINICAL TRIALS.
WHAT WE DO ALL THE TIME AT
UNITED PORPHYRIA AND PATIENT
ADVOCACY, IS EDUCATE, REFER,
RECRUIT AND COMMUNICATE.
WHAT I SAY TO ALL OUR INDUSTRY
PARTNERS IS BRING US IN, BRING
US IN EARLY.
WE KNOW A LOT.
PATIENTS WANT TO TALK TO YOU AND
THERE ARE SO MANY SAVVY PATIENTS
AND SAVVY PATIENT LEADERS OUT
THERE.
YOU HEARD FROM SO MANY TODAY
THAT ARE JUST BEYOND IMPRESSIVE.
SO THAT'S WHERE WE ARE IN THE
PORPHYRIAS.
>> CAN YOU TALK A LITTLE BIT,
BECAUSE I MENTIONED IN YOUR
INTRO, YOU'RE A CAREGIVER TO
YOUR SON WHO IS EPP.
THAT PERSPECTIVE.
HOW YOU HAVE BEEN ABLE TO -- IN
THE CAREGIVER PERSPECTIVE.
>> SURE.
SO, RARE DISEASE AND ADVOCACY IS
BOTH PERSONAL AND PROFESSIONAL
TO ME.
MY SON BRADY, HE IS NOW 17, MY
YOUNGEST OF THREE BOYS.
HE WAS DIAGNOSED WITH EPP,
ERYTHROPRO ETIC PROTOPRO FERIA
AT THE AGE OF 3.
HE JUST TURNED FORE.
AND LIVING WITH EPP IT MEANS
THAT THE SUN IS YOUR ENEMY.
IT'S A PHOTO TOXIC DISEASE WHERE
EXPOSURE CAUSES HORRIFIC
DEBILITATING PAIN FOR WHICH
THERE IS NO TREATMENT.
SO, WHEN HE WAS DIAGNOSED, I
KIND OF TIPTOED INTO ADVOCACY
AND RESEARCH IN THIS AREAS AND
THEN DOVE RIGHT IN.
AND MY VERY FAVORITE WORD IS,
HOPE.
I HAVE NOT HEARD IT DESCRIBED AS
HOPE IS AIR.
BUT IT IS.
HOPE IS POWER.
WE HEARD THROUGHOUT TODAY.
AND MY FAVORITE THING TO SAY IS,
HOPE IS INEFFECTIVE WITHOUT
ACTION, WHICH IS WORDS I HEARD
FROM CHRISTOPHER AUSTIN YEARS
AGO AND IT HAS JUST MOTIVATED ME
OVER THE YEARS.
AND IT IS TRUE.
HOPE IS ACTION.
>> THANK YOU.
NEXT QUESTION IS FOR JENNIFER.
JENNIFER, AS A PATIENT WITH EPP,
I WANT YOU TO TALK ABOUT HOW YOU
BENEFITED FROM A THERAPY THAT
WAS APPROVED FROM A CLINICAL
TRIAL IN YOUR EXPERIENCE.
SO WE ARE GOING FROM, YOU KNOW,
PUTTING INTO THE PERSPECTIVE,
BRINGING THE ADVOCACY AND
INDUSTRY COLLABORATION,
THERAPEUTIC DEVELOPMENT AND NOW
WE HAVE HOPE THAT TURNED INTO
SOMETHING.
>> JENNIFER BECK: HOPE IN
ACTION, YES.
SO I WAS BORN WITH EPP AND YOU
ALREADY HEARD A LITTLE BIT ABOUT
THAT.
I'LL TELL YOU ABOUT THE DAILY
LIFE, THOUGH.
FOR MOST OF MY LIFE,, WITHIN TWO
MINUTES OF EXPOSURE TO SUNLIGHT,
MY SKIN WOULD BECOME HOT AND
ITCHY.
IN ABOUT 5 MINUTES I WOULD FEEL
THE BURNING SENSATION OF A HOT
IRON ABOUT ONE INCH AWAY FROM MY
SKIN.
AND IN 10 MINUTES, THEREBY WOULD
BE AN EXPLOSION OF HEAT AND
PAIN.
THE REACTIONS WOULD BE
EXACERBATED BY THE WIND AND IF I
WAS IN THE SHADE, THE SUN WOULD
BE REFLECTED BY SAND, CEMENT,
WATER.
IT WOULD BRING ON AN EXQUISITE
PAIN THAT COULD MAKE YOU THINK
YOU WERE GOING TO LOSE YOUR
MIND.
RECOVERY WOULD TAKE 3-5 DAYS AT
WHICH POINT IT WOULD BE
COMPLETELY OUT OF THE SUNLIGHT.
I WOULD HAVE NO TOLERANCE FOR
THE SUN AND I COULDN'T USE MY
HAND TO BRUSH MY HAIR OR WASH A
DISH.
FOR 40 YEARS, I DESCRIBED MYSELF
AS BEING ALLERGIC TO THE SUN,
WHICH IS A TERRIBLE WAY OF
DESCRIBING EPP BUT I HAD NO
DIAGNOSIS AND HO EXPLANATION FOR
MY SYMPTOMS.
I WAS A SHADOW JUMPER RUNNING
FROM SHADY SPOT TO SHADY SPOT,
HUDDLING UNDER HATS, COATS AND
GLOVES, WEARING LONG PERHAPS AND
SNEAKERS, ESPECIALLY ON THE
HOTTEST DAYS OF THE YEAR.
EVERY DAY, EVERY DECISION WAS
DOMINATED BY EPP.
WHEN I DROVE TO WORK OR THE
GROCERY STORE, I WOULD BE
SHROUDED BY HEAVY JEAN JACKETS
AND GLOVES.
I WOULD CAREFULLY SHADE EVERY
INCH OF MY SKIN.
A TRIP INTO THE STORE WOULD
BECOME A JOURNEY TO HELL AS I
TRIED TO PARK AS CLOSING AS I
COULD TO THE DOOR AND -- HOLLER
AT THEM NOT TO DOTTLE AS MOMMY'S
SKIN WAS ON FIRE.
A BUSINESS MEETING WOULD TURN
AWKWARD WHEN SOMEBODY WOULD SAY
LET'S SIT OUTSIDE IN THE SHADE.
I'D HAVE TO DECLINE OR SUFFER IN
SILENCE.
EPP DOESN'T JUST EFFECT THE
INDIVIDUAL PATIENT, IT EFFECTS
THE WHOLE FAMILY.
I HAVE A SUPPORTIVE FAMILY WHO
ALWAYS BELIEVED ME AND I WAS
SURROUNDED BY SHADE HEROES BUT I
STILL MISS SO VERY MUCH, TRIPS
OUT TO THE BEACH, HAVING TO HIDE
INSIDE OUR VACATION RENTALS,
WATCHING MY KIDS SOCCER GAMES
FROM THE CAR IN THE PARKING LOT.
MY MOTHER SAW THAT T.V. SHOW.
THAT'S HOW I GOT MYSELF
DIAGNOSED AT 40.
I DID SOME RESEARCH.
GOT A ORDER FOR LAB WORK DOWN
THE STREET AND THEN I GOT MY
DIAGNOSIS.
BUT AT THAT POINT, HAVING THAT
DIAGNOSIS AT 40, I LEARNED THERE
WAS A MEDICATION BEING USED
SUCCESSFULLY IN OTHER COUNTRIES
TO TREAT EPP.
I HAD HOPED FOR A TREATMENT FOR
MYSELF SOME DAY AND I HELD
TIGHT.
IN 2015, I WROTE MY FIRST LETTER
TO THE FDA REQUESTING THEY
ACCELERATE THE APPROVAL OF THAT
TREATMENT US AND I DIDN'T THINK
TOO MUCH ABOUT IT.
I KEPT TO THE SHADOWS.
I KEPT WORKING AND LIVING WITH
EPP.
ON APRIL 21 OF 2017, EVERYTHING
CHANGED AND MY LIFE TURNED
UPSIDE DOWN.
THAT'S WHEN I MET KRISTEN.
I WAS AT WORK ON A FRIDAY
MORNING SITTING AT MY COMPUTER
AND I SENTENCED WHAT I THOUGHT
WAS A REACTION TO SUNLIGHT
COMING ON.
I WAS GETTING TINGLY, HOT AND
ITCHY AND UNCOMFORTABLE.
I WAS SHOCKED TO REALIZE I WAS
HAVING AN EPP REACTION TO THE
LIGHTS IN MY OFFICE.
I WAS TERRIFIED.
I TO RUN OUTSIDE OF MY PLACE OF
EMPLOYMENT AND I WAS ASSAULTED
IN EVERY SPACE OF THE BUILDING
RUNNING OUTSIDE WAS NO HELP.
THE SUN WAS BOUNCING OFF THE
PAVEMENT AS A COWARD IN THE
SHADE.
IT FELT LIKE HOT BOILING OIL WAS
POURING ON MY SKIN AND MY BRAIN
WAS EXPLODING IN FEAR AND PANIC.
I CALLED MY HUSBAND SOBBING AND
HE TOLD ME TO COME HOME.
A COWORKER TOLD ME HE SAW ME
ENTER THE BUILDING TO GET MY
THINGS AND THE PANIC AND FEAR ON
MY FACE WAS PALPABLE.
IT BRINGS ME BACK.
IT'S HARD.
THERE IS PTSD WITH THE DISEASE.
I DROVE HOME IN TEARS, MY SKIN
WAS ON FIRE AND THERE WAS NO
PLACE FOR ME TO GO.
MY EPP WAS EXACERBATED CAUSE WAS
UNKNOWN AND INCLUDED NOW INTENSE
REACTION TO ALL VISIBLE LIGHT,
SUNLIGHT, INCANDESCENT BULBS,
HALOGEN, LED, FLUORESCENT,
COMPUTER SCREENS AND CELL
PHONES.
I JUST LIST THOSE ALL OFF SO I
TRIED EVERY KIND OF LIGHTBULB.
WITH EXTREME PRECAUTIONS TO
AVOID SOURCES OF LIGHT, I
REMAINED IN CONSTANT PAIN AND
LIVED IN FEAR OF EXPOSURE TO ANY
LIGHT SOURCE.
NO MEDICATION FOR THE PAIN
RELIEF.
NIGHTS WERE SLEEPLESS.
MY MENTAL HEALTH WAS SUFFERING.
I COMMUNICATED WITH EXPERTS.
I TALKED TO THE FDA LOOKING FOR
ACCESS TO THE ONLY CLINICALLY
PROVEN TREATMENT FOR EPP.
IT WASN'T IN THE U.S. YET.
DR. LINDER IN SWITZERLAND AGREED
TO PROVIDE TREATMENT AND I HAD
MY FIRST IMPLANT ON AUGUST 420
42017.
HAVING TO TRAVEL TO ZURICH AND I
COULDN'T TOLERATE ANY LIGHT, WAS
ONE OF THE MOST TRAUMATIC
EXPERIENCES OF MY LIFE.
I COULD NOT BE EXPOSED TO ANY
LIGHT BUT I HAD TO ENTER THE
AIRPORT, HI TO GO TO SECURITY
AND GET ON THE PLANE.
MY HUSBAND WAS THE CAREGIVER FOR
THIS TRIP AND I WAS HEAVILY
SEDATED IN A WHEELCHAIR.
I WAS REPEATEDLY EXPOSED TO
LIGHT.
AFTER I MET WITH DR. LENDER IN
SWITZERLAND, I FELT HOPEFUL I
WOULD HAVE SOME RELIEF FROM MY
EMPTPP ALTHOUGH SHE WAS CAUTIOUS
AND SUGGESTED I WOULD ONLY GET
PARTIAL RESULTS BECAUSE MY CASE
WAS SO EXTREME.
AFTER THAT IMPLANT, I BEGAN
MEASURING THE RESULTS AND
PERCENTAGES AS THE HOURS PASSED.
IT'S 2% BETTER.
IT'S 7% BETTER.
I KEPT A JOURNAL.
OPEN THE BLINDS TWO INCHES, IT'S
10% BETTER.
BY THE TIME I FLEW HOME IT WAS
20% BETTER.
WITHIN TWO WEEKS OF MY FIRST
IMPLANT I WAS BACK TO WORKING 40
HOURS A WEEK WITH LITTLE TO NO
REACTION TO ANY LIGHT SOURCE.
I WAS ATTENDING MY KIDS SCHOOL
CONFERENCES AND WATCHING MY KIDS
PLAY SOCCER.
I TRAVELED TO SWITZERLAND 18
TIMES OVER THE NEXT THREE YEARS.
THAT FIRST YEAR NONE OF THE
EXPENSES WERE COVERED BY HEALTH
INSURANCE.
WE TOOK A SECOND MORTGAGE
AGAINST OUR HOUSE.
FRIENDS AND FAMILY HELD
FUNDRAISERS FOR US.
WE RECEIVED GIFTS LARGE AND
SMALL TO COVER THE 120,000
DOLLARS IN EXPENSES.
EVEN AFTER IT WAS COVERED BY MY
INSURANCE, WE HAD TO PAY ALMOST
20,000 DOLLARS UPFRONT AND
SUBMIT FOR REIMBURSEMENT PLUS
PAY FOR TRAVEL TO SWITZERLAND
EVERY EIGHT WEEKS.
ALL THAT WORK FOR ADVOCATING FOR
ACCESS TO TREATMENT BY THE PRO
FORIA PATIENTS LED TO APPROVAL
IN THE NICK OF TIME.
I GOT MY LAST TREATMENT IN
SWITZERLAND MARCH 23, 2020, DAYS
AFTER THE WORLD WENT INTO COVID
LOCKDOWN.
THAT'S A SEPARATE STORY.
NOT EVERY PATIENT WITH EPP
RESPONDS AS WELL AS I HAVE TO
TREATMENT WITH SINNESS AND NOW
THERE ARE MORE TREATMENTS MOVING
THROUGH CLINICAL TRIALS.
FOR ME, THE BLINDS ARE OPEN, THE
LITHE ARE ON AND I'M LIVING PAIN
FREE DAY AFTER DAY, NIGHT AFTER
NIGHT.
THE TRANSFORMATION FROM BEING
DISABLED WITH EPP TO BEING
UTTERLY FREE FROM PAIN AND FREE
FROM FEAR HAS BEEN LIFE CHANG
CHANGING.
>> WOW.
I DON'T KNOW EVEN WHAT TO SAY.
SHIVERS, YOU KNOW?
THIS IS WHY I WANTED JENNIFER TO
SHARE HER PERSONAL STORY WITH
HOW A TREATMENT HAS IMPACTED HER
DAILY LIFE NOW.
I MEAN, THE LIGHTS ON THE STAGE.
IT'S AMAZING.
THIS IS WHY WE REALLY NEED
ADVOCACY IN INDUSTRY TO WORK
TOGETHER, TO ACCELERATE
PROGRESS, HEARD FROM BRIAN,
SANDRA, WHAT THEY ARE DOING IN
THE ALS COMMUNITY, SHARON IS
DOING IN THE PATIENT ADVOCACY
COMMUNITY GENE THERAPY
CONSORTIUM, AND KRISTEN AND
JENNIFER.
WHAT I'D LIKE TO DO IS MAYBE
ALLOW EACH OF OUR PANELISTS LIKE
A MINUTE -- ARE WE DOING GOOD ON
TIME?
OKAY.
I WANT TO BE CONSCIOUS OF THAT.
REALLY TO TAKE AWAY OR
CONSIDERATIONS WE HAVEN'T
TOUCHED ON THAT YOU THINK OTHER
ORGANIZATIONS -- THERE ARE A LOT
OF ORGANIZATIONS HERE
REPRESENTATIVE OF OTHER
ULTRARARE DISEASE GROUPS AS
WELL -- THAT CAN TAKE AWAY TO
REALLY PUT HOPE INTO ACTION.
WE HEAR THAT WORD HOPE, A LOT.
BUT REALLY, I MEAN, THAT IS WHAT
IT IS FOR RARE DISEASES.
IT'S THE HOPE THAT EVERYONE
HOLDS ON TO.
AND I'LL START WITH YOU, SANDRA.
I KNOW YOU WERE TRANSCRIBING FOR
BRIAN BUT I WANT TO HEAR FROM
YOU NOW TOO.
>> SANDRA ABREVAYA: I MEAN THE
STORY THAT WE ALL JUST HEARD IS
THAT FUEL THAT WE ALL NEED
BECAUSE THAT'S ALL ANY OF US
WANT, RIGHT?
WE JUST -- YOU KNOW, WE WANT TO
BE ON THE CUSP OF WHEN IT
TRANSFORMS TO TREATABLES.
SO, I DON'T KNOW WHY ANYONE
WOULD EVER SUGGEST TO A RARE
DISEASE PATIENT THAT THEY SHOULD
LIVE WITHOUT HOPE.
IT'S ABSURD.
IT TAKES A LOT OF ENERGY TO
ADVOCATE AND IT TAKES A LOT OF
ENERGY TO TAKE ACTION.
AND IF YOU DON'T HAVE HOPE, YOU
HAVE GOT NOTHING IN THE TANK TO
RUN ON.
SO, I'M JUST GRATEFUL TO BE IN
THIS COMMUNITY AND TO BE
SURROUNDED BY STORIES OF OTHER
PEOPLE WHO HAVE BROKEN THROUGH,
BECAUSE THAT GIVES US THE ENERGY
TO KEEP GOING.
SO THANK YOU.
>> THANK YOU, SANDRA.
DOES BRIAN WANT TO ADD ANYTHING
TO THAT TOO?
>> BRIAN WALLACH: ONLY ONE
THING.
IF YOU ARE A PATIENT OR A
CAREGIVER IN THE AUDIENCE, YOU
PROBABLY KNOW THIS.
BUT IT IS IMPORTANT TO SAY BE
BOLD.
REMEMBER THAT FEW PEOPLE
UNDERSTAND YOUR DISEASE AS WELL
AS YOU DO.
BUT FEW PEOPLE WILL BREAKDOWN
WALLS AS WELL AS YOU WILL.
SO STAY STRONG AND BE FEARLESS.
>> THANK YOU.
AMAZING.
YOU HAVE TO TAKE A DEEP BREATH
WHEN YOU HAVE THESE KIND OF
PANELISTS.
SHARON?
>> SANDRA ABREVAYA: THAT'S HARD
TO FOLLOW.
I REALLY JUST WANT TO SAY,
DITTO.
I WILL SAY, YOU KNOW, TELL YOUR
STORY.
TELL IT OFTEN.
TELL IT TO ANYONE YOU KNOW.
I GO TO WORK EVERY DAY EXCITED
BECAUSE IT'S MY CHANCE TO TELL
YOUR STORIES, TO MAKE THOSE
CONNECTIONS THAT INSPIRE
EVERYONE TO SUPPORT THE PROGRESS
WE ALL HOPE FOR SO MUCH.
SO, TELL THOSE STORIES.
IT'S THE MOST IMPORTANT THING
YOU CAN DO.
AND EVERYTHING ELSE WILL GROW
FROM THERE.
>> GREAT, THANK YOU, SHARON.
KRISTEN?
>> KRISTEN WHEEDEN: SO, I'M
GOING TO USE THE WORDS THAT
JENNIFER SAID TO ME, I DON'T
KNOW IF YOU REMEMBER, A FEW
YEARS AGO.
THE WORDS WERE, I DON'T KNOW IF
IT WAS HER BAD DAY OR MY BAD
DAY -- BUT WE WERE TALKING AND
SHE SAID, KRISTEN, WE'RE ALL
JUST WALKING EACH OTHER HOME.
AND I DON'T KNOW WHO IS THE
POET, BUT I THINK ABOUT IT
OFTEN.
I PUT TO THE ON THE CLOCK.
IT'S IN MY HOME.
WE ARE ALL JUST WALKING EACH
OTHER HOME.
WHETHER YOU'RE A RESEARCHER,
PATIENT OR ADVOCATE, NO MATTER
WHERE YOU ARE, OR A INDUSTRY
MEMBER.
NO MATTER WHERE YOU ARE IN THIS
RARE DISEASE PROCESS, WHETHER
YOU'RE DIAGNOSED, YOU ARE
WAITING FOR TREATMENT, FIGHTING
FOR TREATMENT, GETTING
TREATMENT, YOU MATTER.
AND THAT'S ALL I HAVE.
>> THANK YOU, THANK YOU.
ONE THING I JUST WANT TO ADD.
I THINK WE CAN TAKE AWAY FROM
ALL OF THE DISCUSSION THIS
SESSION AND JUST TODAY, IF
YOU'RE A MEMBER OF INDUSTRY OR
SPONSOR, IT'S REALLY CRITICAL
THAT YOU'RE TALKING TO THE
PATIENT COMMUNITY.
IT'S OBVIOUS MANY ARE DOING IT,
BUT THERE STILL ARE SPONSORS,
THE SMALLER SPONSORS, THAT ARE
JUST NOT CONNECTING WITH THE
PATIENT COMMUNITY, INCLUDING THE
CAREGIVER COMMUNITY.
THE CARE PARTNERS.
THEY PLAY A REAL CRITICAL ROLE
IN DRIVING PROGRESS, BUT REALLY
UNDERSTANDING THE MEANINGFUL
OUTCOMES THAT MATTER TO THAT
PATIENT COMMUNITY.
THAT'S REALLY IMPORTANT.
AND HOPEFULLY THE SESSION IS
BROUGHT IN SOME LIGHT TO WHY
IT'S IMPORTANT TO DRIVE PROGRESS
FOR RARE DISEASES.
SO THANK YOU, THANK YOU SO MUCH.
THANK YOU SANDRA AND BRIAN.
>> THANK YOU FOR HAVING US.
BRIAN, WHAT DID YOU WANT TO
SHARE?
>> BRIAN: THANK YOU FOR ALL OF
THE WORK TO CHANGE THE WORLD.
>> IF YOU DON'T MIND, I THINK
YOU ALL SHOULD JUST STAY WHERE
YOU ARE.
BECAUSE WE ARE JUST CLOSING UP.
DID YOU HAVE A COMMENT, RON?
RON, DO YOU HAVE A COMMENT?
WOULD YOU LIKE TO MAKE IT ON T
THE --
>> I JUST GOT NOTIFIED OF OUR
VERY FIRST APPROVAL OF OUR
MEDICATION FOR A RARE DISEASE.
IT'S NOT PUBLIC YET.
THE PRESS RELEASE WILL BE ISSUED
IN ABOUT FIVE MINUTES BUT WE
JUST GOT NOTIFIED.
[ APPLAUSE ]
>> THIS IS A MOMENT.
GOOD NEWS.
I JUST WANT TO THANK THIS LAST
PANEL FOR THE DISCUSSION TODAY.
YOU KNOW, OVER 40 YEARS AGO, ABI
MEYERS SHOWED US HOW TO BE AN
ADVOCATE.
TODAY ABI HOUSER SHOWED US HOW
TO BE THE CAPTAN OF OUR RARE
DISEASE PROGRAM.
AND MANY OF YOU SHOWED US HOW TO
ROCK THE RARE DISEASE PROGRAM
TOO.
THAT'S REALLY IMPORTANT.
THE FUTURE KINGS, ELLEN, MARC
ROTHENBERG AND THE DYNAMIC DUO
OF SANDRA AND BRIAN AND JENNIFER
AND ALL THE PEOPLE HERE TODAY
TELLING US THEIR STORIES.
SHOWING US HOW TO GET THOSE
TREATMENTS AND CURES.
AND NOW JUST HEARING THIS FROM
RON BAR TECH, SUPER EXCITING
TODAY ON RARE DISEASE DAY, WHAT
A GREAT MOMENT.
SO I WANT TO THANK YOU ALL FOR
SHARING YOUR STORIES.
I WANT TO THANK YOU ALL FOR
COMING OUT TODAY AND BRINGING US
THAT HOPE IN ACTION.
I LOVE THAT VERSE TOO, FROM
CHRIS.
AND I WANT ALSO TO GIVE ONE MORE
ROUND OF APPLAUSE FOR ALICE, AMY
AND MERA, BECAUSE THERE ARE SOME
GLITCHES TODAY.
BUT THEY MANAGED IT ALL WITH
GRACE.
[ APPLAUSE ]
AND A SMILE ON THEIR FACE.
THANK YOU VERY MUCH.
ALSO, I WANTED TO LET YOU KNOW
THAT THE -- YOU CAN REVISIT THE
VIDEOCAST BY USING THE LINK THAT
YOU WERE SENT WHEN YOU WERE
REGISTERED.
AND THE EVENT APP WILL STAY OPEN
UNTIL MARCH 2 AT NOON SO YOU CAN
STILL VISIT THE VIRTUAL EXHIBITS
AND POSTERS UNTIL THEN.
AND WITH THAT, THANK YOU VERY
MUCH AGAIN.
THANK YOU TO THE PANEL TODAY FOR
PRESENTING AND ALL OF THE
SPEAKERS, ALL THE ARTISTS AND
ALL OF THE PEOPLE WHO HAD THE
BOOTHS.
I LOOK FORWARD TO SEEING YOU
NEXT YEAR AND HEARING MORE ABOUT
THESE SUCCESSES.
THANK YOU VERY MUCH, EVERYONE.
HAVE A GOOD NIGHT.