THANK YOU FOR JOINING US FOR
THIS SECOND OF THE TWO VIRTUAL
TOWN HALL FORUMS HOSTED BY THE
NATIONAL COMMISSION ON LYMPHATIC
DISEASES, NCLD, TO ELEVATE THE
VOICES OF INDIVIDUALS LIVING
WITH LYMPHATIC DISEASES.
TODAY NCLD MEMBERS WILL ENGAGE
WITH ORGANIZATIONS THAT PROMOTE
EDUCATION, RESEARCH AND ADVOCACY
FOR PEOPLE LIVING WITH RARE
LYMPHATIC DISEASES, AS WELL AS
THOSE DIRECTLY AFFECTED BY THOSE
CONDITIONS.
PARTICIPANTS WILL SHARE PERSONAL
EXPERIENCES HIGHLIGHTING THE
CHALLENGES AND OBSTACLES THEY
FACE IN ACCESSING EFFECTIVE
HEALTHCARE AND SUPPORT.
I AM SELEN CATANIA, PROGRAM
OFFICER IN NATIONAL HEART, LUNG,
BLOOD INSTITUTE, NHLBI, IN
DIVISION OF CARDIOVASCULAR
SCIENCES.
I'M THE EXECUTIVE SECRETARY OF
THIS COMMISSION SERVING AS
LIAISON BETWEEN NCLD AND THE
NHLBI'S LEADERSHIP.
I'M REPRESENTING HERE A
CONSIDERABLY LARGE NHLBI
STRUCTURE FOR THIS COMMISSION.
I'M GOING TO MAKE A FEW
ADMINISTRATIVE ANNOUNCEMENTS AND
SOME HOUSEKEEPING REMINDERS
BEFORE WE GET STARTED.
FIRST I WANT TO WELCOME ALL OUR
PUBLIC VISITORS AS WELL AS THE
STAFF TO THIS BROADCAST BROUGHT
TO YOU BY NIH VIDEOCAST.
AND WE ARE LOOKING FORWARD TO
YOUR FEEDBACK.
LISTENERS ON THE VIDEOCAST
ENVIRONMENT CAN USE THE "SEND
FEEDBACK" BUTTON RIGHT UNDER
YOUR WEBCAST SCREEN.
ALL YOUR QUESTIONS AND FEEDBACK
WILL BE RECORDED AND TAKEN INTO
CONSIDERATION BY THE COMMISSION
AFTER THE MEETING.
TODAY'S MEETING IS BEING
WEBCASTED AND RECORDED.
THE VIDEO WILL BE ARCHIVED AND
WILL BE AVAILABLE FOR THE PUBLIC
AND OUR NIH COLLEAGUES FOR AN
INDEFINITE AMOUNT OF TIME.
A BRIEF OVERVIEW OF TODAY'S
AGENDA IS GOING TO BE STARTING
WITH WELCOME REMARKS BY THE NCLD
CO-CHAIR, MS. STEPHANIE DREYER,
AND THEN WE WILL START THE
PRESENTATIONS, I'LL ANNOUNCE THE
FIRST SPEAKER OF EACH INVITED
ORGANIZATION FOR THEIR
PRESENTATION.
OUR AV TEAM WILL RUN YOUR
SLIDES.
PLEASE SAY "NEXT SLIDE" AND OUR
TEAM WILL ADVANCE YOUR SLIDES
FOR YOU.
AFTER THAT, PLEASE PRESENT --
WHEN YOU ARE FINISHED, PLEASE
ANNOUNCE THE NEXT PRESENTER FROM
YOUR ORGANIZATION.
YOU WILL BE SPOTLIGHTED DURING
YOUR PRESENTATION AS A SPEAKER
AND WHEN I ALSO APPEAR, IT WILL
BE A SIGN THAT YOU HAVE ONE
MINUTE LEFT.
AFTER THIS, WE WILL HAVE THE
CLOSING DISCUSSIONS THAT WILL BE
LED BY THE NCLD CO-CHAIR,
DR. STANLEY ROCKSON.
THE MEETING WILL ADJOURN WITH
THE CLOSING REMARKS BY NCLD
CO-CHAIRS.
WE REQUEST EVERYONE IN ZOOM TO
TURN THEIR CAMERA ON WHEN THEY
ARE SPEAKING AND USE HAND RAISE
FUNCTION DURING DISCUSSION.
ALL CHAT COMMUNICATION WILL BE
SAVED FOR THE RECORD OF THE
COMMISSION.
WITH THAT, IT IS MY GREAT
PLEASURE TO PASS THE MA MIC TO
MS. STEPHANIE DREYER CO-CHAIR
FOR HER REMARKS.
>> WELCOME, EVERYONE, TO THIS
VERY IMPORTANT MEETING, WHICH
REPRESENTS A SEMINAL ASPECT OF
THE WORK OF THE NATIONAL
COMMISSION.
I WANT TO UNDERSCORE THE NOTION
THAT THIS COMMISSION HAS BEEN
DESIGNED TO SERVE THE NEEDS OF
THE PEOPLE AND THE ORGANIZATIONS
WHO ARE REPRESENTED HERE TODAY.
IT'S VERY IMPORTANT FOR US TO
HEAR THE VOICE OF PATIENTS WHO
ARE AFFECTED BY LYMPHATIC
DISEASE, AND THE ORGANIZATIONS
WHO REPRESENT THEM.
IN ADDITION TO A VARIETY OF
OUTREACH EFFORTS TO THE
COMMUNITY, TODAY IS THE SECOND
OF TWO TOWN HALL MEETINGS.
THE FIRST IN NOVEMBER
SPECIFICALLY FOCUSED ON -- TODAY
WE'RE FOCUSED ON
LYMPHANGIOLEIOMYOMATOSIS AND
LYMPHATIC VASCULAR AND COMPLEX
VASCULAR MALFORMATIONS.
THE FIRST TOWN HALL PROVED TO BE
INCREDIBLY INSIGHTFUL, HELPING
US TO UNDERSTAND PARTICULAR
AREAS OF OUR WORK.
PA POST
SPECIFIC PROBLEMS OR
OPPORTUNITIES FOR THE LYMPHATIC
DISEASE COMMUNITY.
TOPICS LIKE PREGNANCY
EXPERIENCES, THE BURDEN OF
MENTAL HEALTH CHALLENGES, AND
EVEN THE ROLE OR POTENTIAL ROLE
OF RNs OR NPPAs.
WE'RE VERY GRATEFUL TO THE
ORGANIZATIONS WHO HAVE PROVIDED
THESE INSIGHTS, AND I'M FULLY
CONFIDENT THAT TODAY'S SESSION
WILL BE THOUGHT-PROVOKING AS
WELL.
SO WE'RE VERY DELIGHTED THAT
YOU'RE HERE THIS MORNING TO
SHARE YOUR STORIES WITH US, AND
SO THAT YOUR PERSPECTIVES CAN BE
INTEGRATED INTO ALL OF THE
INFORMATION THAT WE'VE BEEN
ACQUIRING DURING THE WORK OF
THIS COMMISSION.
IN ORDER TO PROVIDE OUR FINAL
REPORT TO THE ADVISORY COUNCIL
OF THE NATIONAL HEART, LUNG AND
BLOOD INSTITUTE.
THANK YOU SO MUCH FOR BEING
HERE.
WITH THAT, I WILL MOVE AHEAD TO
TALK ABOUT THE NATIONAL
COMMISSION, AND YOU CAN MOVE TO
THE NEXT SLIDE.
THIS IS BY WAY OF OVERVIEW TO
HELP YOU UNDERSTAND THAT THIS IS
A TRANSPARENT, INCLUSIVE, AND
ACCESSIBLE PUBLIC FORUM TO
ASSESS CRITICAL CHALLENGES,
GATHER INPUT, AS WE ARE THIS
MORNING FROM THE DIVERSE
SPECTRUM OF STAKEHOLDERS TO
IDENTIFY THE GAPS AND CHALLENGES
THAT EXIST IN PROVIDING
APPROPRIATE CARE, RESEARCH, AND
INFRASTRUCTURE FOR THE LYMPHATIC
DISEASE COMMUNITY.
AND TO PROVIDE ACTIONABLE
PROGRESS UPDATES AND OF COURSE A
FINAL REPORT TO THE NHLBI
ADVISORY COUNCIL.
OUR COMMISSION IS COMPRISED OF
15 COMMISSIONERS REPRESENTING A
VARIETY OF BACKGROUNDS AND
EXPERTISE.
AND TO ENSURE APPROPRIATE FOCUS
ON KEY AREAS OF NEED, WE'VE
CREATED A NUMBER OF COMMITTEES
THAT ARE DEVOTED TO ADDRESSING
EACH OF THE INDIVIDUAL ELEMENTS
THAT WE THINK ARE IMPORTANT IN
UNDERSTANDING THE PROBLEM OF
LYMPHATIC DISEASE AND ITS
POTENTIAL SOLUTIONS.
SO HERE YOU SEE THE COMMITTEES
LISTED WITH RELEVANT MEMBERS OF
THE COMMISSION THAT SERVE IN
EACH OF THESE COMMITTEES.
AS YOU CAN SEE, WE HAVE A
SCIENTIFIC COMMITTEE,
EDUCATIONAL IMPERATIVES,
MEASURABLE RESULTS, PATIENT
TOOLS, THIRD PARTY COVERAGE, AND
OF COURSE, COMMUNITY GROWTH.
SO WITH THAT, I'LL TURN IT BACK
TO SELEN TO INTRODUCE OUR
STAKEHOLDERS WITH US TODAY
REPRESENTING EVEN MORE DIVERSE
PERSPECTIVES.
THANK YOU AGAIN FOR BEING HERE.
SELEN, OVER TO YOU.
>> THANK YOU, STEPH, FOR THAT
GREAT WELCOME REMARKS.
WE ARE GOING TO START WITH OUR
FIRST PRESENTATION BY DR. DENISE
ADAMS.
SHE IS A MEMBER OF THE MEDICAL
ADVISORY BOARD OF FAVA,
FIBRO-ADIPOSE VASCULAR ANOMALY.
I'M GOING TO PASS THE MIC TO
DENISE.
>> THANK YOU VERY MUCH.
IT'S A REAL HONOR TO BE HERE TO
DISCUSS THIS TOPIC WITH YOU.
IF YOU GO TO MY FIRST SLIDE.
THIS TELLS YOU WHO I AM, BUT WHO
I REALLY AM IS, I'M A PEDIATRIC
ONCOLOGIST THAT'S BEEN DOING AND
TAKING CARE OF PATIENTS WITH
VASCULAR ANOMALIES FOR 25 YEARS,
SO I'M REALLY -- I CONSIDER
MYSELF A VASCULAR ANOMALIST.
AND A VASCULAR ANOMALIST HAS TO
TAKE CARE OF PATIENTS THAT HAVE
NOT ONLY TUMORS BUT ALSO
MALFORMATIONS.
THE TUMORS THAT WE TAKE CARE OF
CAN BE BENIGN TUMORS, THEY CAN
BE MALIGNANT TUMORS.
AND THEY CAN ALSO BE MALIGNANT
TUMORS.
WE ALSO TAKE CARE OF
MALFORMATIONS AND IF YOU KEEP
ADVANCING UNTIL THE PICTURES ARE
DONE, THAT WOULD BE GREAT.
AND WE TAKE CARE OF ALL
DIFFERENT KINDS OF VASCULAR
ANOMALIES.
WE TAKE CARE OF VENOUS AND
VENOUS LYMPHATIC, LYMPHATIC, AND
ALSO CAPILLARY.
WE ALSO TAKE CARE OF COMPLEX
PROBLEMS AND COMPLEX PROBLEMS
ARE COMBINED LESIONS SUCH AS
CLOVES, FAVA, WHICH IS
FIBRO-ADIPOSE VASCULAR ANOMALY.
SO THE SIGNIFICANT CHALLENGES
THAT WE SEE THAT PEOPLE HAVE
ARE, NUMBER ONE, AWARENESS.
AWARENESS AS FAR AS OUR
PATIENTS, OUR SCHOOLS, OUR LOCAL
INSTITUTIONS, OUR INTERNATIONAL
INSTITUTIONS, HO OUR NIH, THE F.
WE ALSO HAVE A CHALLENGE WITH
EDUCATION.
WE DON'T LEARN THIS IN MEDICAL
SCHOOL, AND WE STILL DON'T LEARN
THIS IN MEDICAL SCHOOL.
WE ALSO KNOW, AND YOU CAN SEE
FROM LOOKING AT THE PICTURES,
THAT THERE'S A HETEROGENEITY, SO
NOT ONE PATIENT FITS INTO A
PERFECT BOX.
AND THAT IS EVEN IF THE PATIENT
HAS THE SAME DIAGNOSIS AND THE
SAME GENOTYPE.
WE HAVE LACK OF STANDARDS OF
PRACTICE BECAUSE OF THIS
HETEROGENEITY.
THERE'S LACK OF ACCESS TO CARE,
SO SOME PEOPLE CAN HAVE MEDICAL
CARE BUT THEY CAN'T FIND
SURGICAL AND RADIOLOGIC CARE.
AND YOU CAN SEE FROM THIS MAP,
THIS AT THE TOP IS A MAP OF THE
UNITED STATES AND ALL THE
PEDIATRIC HOSPITALS.
THE SECOND MAP IS A MAP OF ALL
THE HOSPITALS THAT SAY THAT THEY
TAKE CARE OF VASCULAR ANOMALIES,
AND THE THIRD IS A MAP OF THE
PLACES THAT ONLY HAVE
MULTIDISCIPLINARY SPECIALTIES
AND MULTIDISCIPLINARY CLINICS.
AND YOU SEE THERE'S A VAST
DEFICIENCY OF WHERE THOSE ARE.
WE LACK ACCESS TO NOT ONLY
REGULAR CARE BUT ALSO INNOVATIVE
CARE.
PEOPLE HAVE TO COME ACROSS THE
COUNTRY TO GET INNOVATIVE CARE
SUCH AS MRLs.
WE LACK TRANSITION OF CARE FOR
ADULTS, WE LACK PSYCHOLOGICAL
AND SOCIAL SUPPORT, WE LACK
LONG-TERM DATA FOR OUR
DIAGNOSES, SUCH AS NATURAL
HISTORY, SIDE EFFECTS AND
MEDICATIONS.
THERE'S A LACK OF RESEARCH.
WE'RE WAY BEHIND CANCER.
AND IT'S FRUSTRATING AS I AM A
PEDIATRIC ONCOLOGIST.
THE LACK OF UNDERSTANDING OF
SYMPTOMATOLOGY IS CRITICAL,
SPECIFICALLY PAIN, AND THERE IS
NO CURE.
SO OUR CHALLENGES, AND IF YOU GO
TO THE NEXT SLIDE, OUR RESOURCE
CHALLENGES HAVE TO DO WITH THE
OTHER CHALLENGES.
SO OUR PATIENT ARE STRUGGLING TO
OBTAIN CARE, WHETHER IT BE
LOCALLY OR WHETHER IT BE ACROSS
THE COUNTRY.
OR EVEN IN OTHER COUNTRIES.
IT'S REALLY A SHAME THAT WE HAVE
PEOPLE THAT COME TO US FROM
OTHER COUNTRIES SEEKING CARE,
AND WE'VE BEEN TRYING TO GET OUT
THERE AND TO EDUCATE PEOPLE.
WE HAVE RESOURCES FOR NEW
MEDICATIONS AND INNOVATIVE
PROCEDURES, BUT IT'S HARD TO GET
TO THOSE AREAS.
WE HAVE CHALLENGES ENTERING A
RESEARCH TRIAL AND CHALLENGES
FINDING A RESEARCH TRIAL.
ONE OF OUR MEDICINES CAN CAUSE
$32,000 A MONTH, AND THAT MEANS
IF IT'S COVERED BY INSURANCE,
THEY HAVE TO -- SOME PEOPLE HAVE
TO PAY OUT OF POCKET 1,000 TO
$8,000 A MONTH, AND THAT IS NOT
POSSIBLE.
SO MY WISHES ARE, AND OUR WISHES
ARE, IN THE FUTURE, THERE WILL
BE ADULT AND PEDIATRIC
PRACTITIONERS AND CENTERS
AVAILABLE TO ALL WITH EXPERTISE
IN VASCULAR ANOMALIES THAT
PROVIDE SAFE CARE, THAT IS
STANDARD OF CARE FOR PATIENTS.
THAT WE WILL HAVE FUNDING FOR
STUDIES RELATED TO NATURAL
HISTORY, INNOVATIVE END POINTS,
CLINICAL BENEFIT RESPONSE,
BIOMARKERS, NEW MEDICATIONS THAT
WILL IMPROVE THE OUTCOMES FOR
OUR PATIENTS.
AND OUR GOAL NOW IS TO FIND A
CURE.
SO I'M GOING TO INTRODUCE TWO
PATIENTS.
THE FIRST ONE WILL BE A PATIENT
WITH FAVA, VALEN WINTHROP.
>> HI.
I'M BALIN WEINTRAUB.
FIRST THANK YOU TO THE
COMMISSION FOR LETTING ME
PARTICIPATE TODAY.
I'M HERE ON BEHALF OF FAVA, A
NON-PROFIT ADVOCACY GROUP.
FAVA IS A CONDITION IN WHICH
PAINFUL LESIONS BEGIN TO ILL
FILTRATE MUSCLE TISSUE AS WELL
AS OFTEN ILL FIN TRAIT THING THE
BLOOD VESSELS, TENDONS AND
NERVES.
IT USUALLY OCCURS IN A PERSON'S
LIMBS.
WHEN I WAS 8 YEARS OLD I
SUNDAYLY BEGAN EXPERIENCING
UNRELENTING PAIN IN MY RIGHT
FOOT, SO MY FAMILY BEGAN A
YEAR-LONG JOURNEY SEARCHING FOR
A DIAGNOSIS.
THE PAIN BECAME PERMANENT IN MY
LIFE AND I WAS A CASE THAT FEW
COULD SOLVE.
AFTER 13 DOCTORS VISITS ACROSS
FOUR DIFFERENT STATES, FOUR OR
FIVE MISDIAGNOSES AND HAVING
THREE PROCEDURES DONE, I FINALLY
GOT MY DIAGNOSIS.
UNFORTUNATELY, THERE WAS ONLY
ONE MEDICATION THAT WAS
AVAILABLE TO ME, AND IT WAS OFF
LABEL AND NOT GUARANTEED TO
WORK.
I'VE BEEN TAKING THAT MEDICATION
FOR YEARS, AND WHILE IT WORKED
AT THE BEGINNING, ITS
EFFECTIVENESS HAS DECREASED OVER
TIME AND I'VE HAD TO SUFFER
THROUGH THE PAINFUL SIDE EFFECT
THE ENTIRE TIME.
MORE RECENTLY, A NEW MEDICATION
HAS BECOME AVAILABLE BUT MUCH
LESS IS KNOWN ABOUT IT.
AND THAT MAKES ME SCARED BECAUSE
I REALLY DON'T WANT TO BE THE
GUINEA PIG.
ADDITIONALLY, MANY INSURANCE
COMPANIES REFUSE TO COVER THIS
NEW DRUG WITHOUT A CONFIRMED
MUTATION, AND THAT, TOO, HAS
BEEN A JOURNEY FOR ME.
BECAUSE I HAVE A SOMATIC
MUTATION AND THE RESEARCH ISN'T
WHERE IT NEEDS TO BE, MY TISSUE
NOW HAS RECEIVED THREE
INCONCLUSIVE RESULTS AND I'M
CURRENTLY WA WAITING FOR RESULTS
FROM TWO MORE VASCULAR ANOMALY
CENTERS FOLLOWING A BIOPSY THAT
I HAD DONE MONTHS AGO.
IN THE MEANTIME, MY LIFE LOOKS A
LOT DIFFERENT THAN MOST
TEENAGERS.
I PLAY COMPETITIVE SOCCER BUT I
SUFFER IN PAIN AFTER EVERY
SINGLE PRACTICE AND GAME.
I HAVE TO WEAR TWO DIFFERENT
SHOES TO ACCOMMODATE MY FAVA
FOOT AND I CONVINCE EVERYONE AT
SCHOOL THAT IT'S JUST A PART OF
MY FASHION STATEMENT.
DURING THAT FLARE-UPS, IT'S
NEARLY IMPOSSIBLE TO FALL
ASLEEP, CONCENTRATE AT SCHOOL OR
WALK.
I GO THROUGH BOTTLES OF ORAGEL
TO TREAT THE MOUTH ULCERS CAUSED
BY MY MEDICATIONS AI KNOW MORE
ABOUT FAVA THAN ALMOST ANY
DOCTOR IN MY COUNTY.
I TRAVEL ALMOST 3,000 MILES FOR
MY YEARLY DOCTOR APPOINTMENTS
WITH A FAVA EXPERT AND I HAVE TO
SHOW MY FLEXIBILITY BY BENDING
MY FOOT UP TO MY COMPUTER CAMERA
FOR OUR QUARTERLY VIRTUAL
VISITS.
BUT MY STORY IS NOT UNIQUE.
MANY PEOPLE LIVING WITH FAVA
SUFFERING LIKE ME ARE ANXIOUSLY
WAITING FOR FUTURE TREATMENTS TO
IMPROVE OUR LIVES.
THERE ARE BRILLIANT DOCTORS AND
RESEARCHERS OUT THERE WHO FIGHT
TIRELESSLY EVERY DAY FOR MY
COMMUNITY, BUT THEY NEED FUNDING
FOR RESEARCH.
I SINCERELY THANK THE COMMISSION
FOR LISTENING TO OUR CALLS FOR
HELP AND FOR ALLOWING OUR
COMMUNITY TO BELIEVE IN A
BRIGHTER FUTURE.
THANK YOU AND I'LL TURN IT OVER
TO CAT.
>> GOOD MORNING.
I JUST WANT TO SAY THANK YOU FOR
LETTING ME BE HERE.
I AM A PATIENT THAT HAS VASCULAR
LYMPHATIC AND CAPILLARY
INVOLVEMENT, AND I AM AN ADULT
ANDIN A PEDIATRIC WORLD AND THAT
DOES NOT WORK VERY WELL.
I'M VERY FORTUNATE WHERE I LIVE
THAT MY PCP HAS TAKEN ON MY CASE
AND SHE'S ABLE TO BRIDGE THE GAP
BETWEEN MY PEDIATRIC DOCTORS AND
MY ADULT PHYSICIANS, BUT MY
BIGGEST WISH IS THAT WE WOULD
HAVE ADULT HEALTHCARE.
EDUCATION IS IMPORTANT.
I GO TO AN E.R. AND NO ONE
REALLY UNDERSTANDS WHAT I HAVE
AND, AGAIN, LIKE HE SAID, I'M
THE EDUCATED ONE IN THE ROOM,
AND WHEN YOU'RE BATTLING
CELLULITIS OR A BLOOD CLOT, IT'S
VERY HARD TO STAY IN A RIGHT
FRAME OF MIND, ADVOCATE FOR
YOURSELF, SO THAT YOU KNOW WHAT
THEY'RE DOING AND BE SICK AT THE
SAME TIME.
IT MAKES FOR VERY COMPLICATED
WORLD.
I GREW UP IN A REGION WHERE THEY
DIDN'T HAVE A LOT OF
INFORMATION.
I'M IN MY 40s, SO I WASN'T
DIAGNOSED UNTIL I WAS 22, AND I
WASN'T ACTUALLY TREATED UNTIL I
WAS 32.
I AM ON A RESEARCH DRUG THAT
COMPLETELY CHANGED MY LIFE.
I WENT FROM VIRTUALLY NOT
WALKING AT ALL TO I WALKED IN A
MARATHON.
BUT IT WASN'T WITHOUT MY
COMMUNITY AND DR. ADAMS AND A
FEW OTHER DOCTORS THAT MADE THIS
POSSIBLE.
THEY NEED SUPPORT.
WE NEED HELP BECAUSE THAT'S THE
ONLY WAY THIS IS GOING TO
CHANGE.
WE NEED A LANGUAGE AND A
COMMUNICATION BETWEEN PATIENT
AND DOCTOR TO MAKE THIS
POSSIBLE.
THAT'S ALL.
>> THANK YOU VERY MUCH FOR THIS
VERY POWERFUL START.
WE ARE GLAD YOU BOTH CAME HERE
AND SHARED YOUR EXPERIENCES WITH
US.
AND WE WILL BE TALKING MORE
ABOUT IT AT THE END OF THE
PRESENTATIONS.
WITH THAT, NEXT PRESENTER IS
KAREN BALL, FOUNDER AND CHIEF
EXECUTIVE OFFICER OF
STURGE-WEBER FOUNDATION.
KAREN?
KAREN, CAN YOU UNMUTE AND ALSO
PUT YOUR VIDEO ON?
ALL RIGHT.
LOOKS LIKE WE MIGHT HAVE LOST
KAREN.
SORRY ABOUT THAT.
WE CAN GET BACK TO THE
STURGE-WEBER FOUNDATION AT THE
END OF THE PRESENTATION.
SO WE WILL MOVE ON TO THE NEXT
PRESENTATION, LAUREN BEUREGARD.
SHE'S THE EXECUTIVE DIRECTOR OF
CLOVES SYNDROME COMMUNITY.
LAUREN?
>> WORKING POWERPOINT ON THE
FLY.
THERE WE GO.
THAT'S THE BEGINNING.
ALL RIGHT.
HI, EVERYBODY.
MY NAME IS LAUREN BEAUREGARD.
I'M THE EXECUTIVE DIRECTOR OF
CLOVES SYNDROME COMMUNITY.
WE ARE A TINY AND MIGHTY PATIENT
ADVOCACY ORGANIZATION
REPRESENTING AN ULTRA-RARE
CONDITION CALLED CLOVES
SYNDROME, WHICH IS A MULTISYSTEM
PROGRESSIVE CONDITION CAUSED BY
GAIN OF FUNCTION MUTATION IN THE
PIC3C8 GENE WHICH IS WHY IT
FALLS YOU UNDERSTAND THE
UMBRELLA OF CONDITIONS CALLED
P ICC3 RELATED SPECTRUM.
WE WERE FOUNDED IN 2009 BY
KRISTEN DAVIS, WHOSE DAUGHTER
WAS ONE OF THE FIRST TO BE
DIAGNOSED WITH THE CONDITION.
IN 2020, WE RECEIVED A GRANT
THROUGH THE CHAN SUCK ZUCKERBERG
INSTITUTE.
WHICH ALLOWED US TO CHAMPION
RESEARCH INTO MECHANISMS BEHIND
PROS.
THAT RESEARCH CONTINUES TO
IMPROVE THE SIGN TISK
COMMUNITY'S UNDERSTANDING OF OUR
CONDITIONS.
I STEPPED INTO THE ROLE EARLIER
THIS YEAR.
I FIRST BECAME CONNECTED WITH
CLOVES SYNDROME COMMUNITY AFTER
THE BIRTH OF MY DAUGHTER KIKI,
WHO'S NOW 9, AND WHO HAS CLOVES.
SO I AM A CLOVES MOM AND NOW
E.D.
COMMON CHALLENGES FOR MEMBERS OF
OUR COMMUNITY, ESPECIALLY THOSE
WITH COMPLEX LYMPHATIC
INVOLVEMENT, INCLUDE RECURRENT
BOUTS OF CELLULITIS, MANY OF
WHICH REQUIRE HOSPITALIZATION,
CHRONIC AND RECURRING PAIN IN
LYMPHATIC MALFORMATIONS, AND A
GENERAL DECREASE IN QUALITY OF
LIFE OVERALL DUE TO PAIN,
RECURRENT HOSPITALIZATIONS, AND
EVERYTHING THAT ENTAILS, WHICH
THE MEMBER OF OUR PATIENT
COMMUNITY WAS GOING TO DISCUSS
TODAY.
I'M -- I DON'T SEE HER AND I'M
WORRIED THAT SHE ACTUALLY CAME
DOWN WITH CELLULITIS.
SO WE'LL JUST SEE IF SHE LOGS IN
BEFORE I'M DONE.
OUR COMMUNITY'S SHARED RESOURCE
CHALLENGES AROUND COMPLEX
LYMPHATIC INVOLVEMENT INCLUDE A
LACK OF EFFECTIVE TREATMENT
OPTIONS, AS WAS MENTIONED BY
DENISE AND CAT, THERE IS A --
THERE'S NOW ONES IS PIC3CA
INHIBITOR MEDICATION THAT'S
APPROVED AND AVAILABLE.
IT'S VERY PROMISING FOR SOME,
HOWEVER, IT DOES NOT WORK FOR
EVERYONE, AND ACCESS TO IT IS
VERY CHALLENGING DUE TO COST AND
OTHER ISSUES.
IN ADDITION TO MEDICATIONS
ACCESS TO THERAPIES SUCH AS
LYMPHEDEMA THERAPY HAVE PROVEN
CHALLENGING JUST LIKE MANY
OTHERS.
ACCESS TO ADAPTIVE CLOTHING AND
EQUIPMENT.
ADAPTIVE CLOTHING IS AN
EVER-PRESENT DISCUSSION IN OUR
ONLINE COMMUNITY BECAUSE OF THE
OVERWHELMING COST AND LACK OF
INSURANCE SUPPORT.
SO FOR EXAMPLE, A PAIR OF CUSTOM
SHOES, WHICH IS VERY COMMON FOR
MANY OF US, COSTS ABOUT $2,000.
MANY INSURANCE PLANS WILL ONLY
COVER THE COST OF ADAPTIVE SHOES
IN CASES WHERE THE PATIENT HAS
DIABETES.
AND NEEDLESS TO SAY, CLOVES
SYNDROME AND DIABETES DON'T
SHARE A VENN DIAGRAM.
MOST OF THE TIME.
IN ADDITION, ACCESS TO
THERAPEUTIC AND ADAPTIVE
EQUIPMENT IS OFTEN MADE MORE
COMPLICATED AND IN SOME CASES
DAMAGING AND DANGEROUS BY
INSURANCE COMPANIES' IGNORANCE
TO PROS CONDITIONS.
FINALLY, TRANSITION FROM
PEDIATRIC TO ADULT CARE.
BECAUSE CLOVES SYNDROME IS SO
COMPLEX, AFFECTING MULTIPLE
SYSTEMS, OUR PATIENTS IN
PEDIATRICS ARE USUALLY SEEN AS
DENISE MENTIONED BY
INTERDISCIPLINARY OR
MULTIDISCIPLINARY TEAMS, AND
THEY SOMETIMES TRAVEL THOUSANDS
OF MILES TO DO THAT.
THAT MODEL IS MUCH LESS COMMON
IN ADULT CARE, AND WHAT WE SEE
IN OUR COMMUNITY IS THAT ADULTS
TEND TO HAVE WORSE COMPLEX CARE
OUTCOMES WHILE EXPENDING MORE
TIME AND A ENERGY RESOURCES TO
GET IT.
THIS IS OFTEN DUE TO A LACK OF
CARE COORDINATION AND
COMMUNICATION BETWEEN
SPECIALTIES.
OUR TOP THREE WISHES FROM THE
COMMUNITY, ESPECIALLY FOR THOSE
WITH COMPLEX LYMPHATIC
INVOLVEMENT, ARE EFFECTIVE
MEDICATION TREATMENT OPTIONS,
WITH SENSICAL TRIAL END POINT
DESIGN.
BECAUSE PIK3CA INHIBITORS WERE
ORIGINALLY DESIGNED TO BATTLE
BREAST CANCER, CLINICAL TRIALS
FOR THESE DRUGS EVEN DURING
REPURPOSING ARE DESIGNED WITH A
CURE MINDSET AND NOT A
MANAGEMENT ONE.
THIS LEADS TO DELAY IN DRUG
APPROVAL AND IN WORST-CASE
SCENARIOS DRUGS THAT COULD BE
BENEFICIAL TO OUR COMMUNITY
NEVER RECEIVING APPROVAL AT ALL.
NUMBER TWO, AFFORDABLE ACCESS TO
CUSTOM GARMENTS, EQUIPMENT AND
SUPPORT SERVICES AND THERAPY,
AND THREE, COMMON
MULTI-/INTERDISCIPLINARY MODEL
IN ADULT CARE FOR COMPLEX
CONDITIONS WITH TRANSITION
COORDINATION FROM PEDIATRICS.
SO LIKE I MENTIONED BEFORE, I'M
SCROLLING THROUGH TO MAKE SURE
SHE DIDN'T APPEAR WHILE I WAS
TALKING, I HAD PLANNED TO PASS
THE MIC TO LINDSAY EDWARDS, AN
ADULT WITH CLOVES SYNDROME IN
OUR COMMUNITY.
SHE'S ALSO A MEMBER OF OUR
FAMILY ADVISORY COUNCIL.
A VERY COOL HUMAN BEING AND A
PH.D. STUDENT STUDYING
DISABILITY ETHICS, BUT
UNFORTUNATELY WHEN I SPOKE TO
HER AT THE END OF THE WEEK
BEFORE THE HOLIDAY, SHE WAS
WORRIED SHE WAS GETTING
CELLULITIS AND I DON'T SEE HER
HERE.
SO SO THAT MAY BE THE CASE.
>> THANK YOU, LAUREN.
IF SHE JOINS DURING THE MEETING,
WE CAN SPOTLIGHT HER AGAIN.
NO PROBLEM.
>> PERFECT.
THAT WOULD BE GREAT.
I HOPE THAT'S NOT THE CASE,
BUT --
>> YES.
>> THAT HAPPENS.
SO THANK YOU ALL FOR YOUR TIME
AND TO THE COALITION FOR GIVING
US ALL THE OPPORTUNITY TO SPEAK
TODAY.
WE REALLY APPRECIATE IT.
>> THANK YOU AGAIN.
>> THANK YOU.
>> THANKS, LAUREN.
NOW WE CAN GET BACK TO KAREN.
SORRY YOU HAD TECHNICAL
DIFFICULTIES.
SO OUR NEXT SPEAKER IS KAREN
BALL.
SHE IS THE FOUNDER AND CHIEF
EXECUTIVE OFFICER OF
STURGE-WEBER FOUNDATION.
KAREN, IF YOU CAN START YOUR
PRESENTATION.
THANK YOU.
>> WELL, WE'LL GIVE IT A SHOT
HERE.
I'M A DINOSAUR IN TODAY'S WORLD,
BUT I'M ALSO IN RURAL MONTANA,
SO THINGS ARE SPOTTY.
I APOLOGIZE UP FRONT.
YES, I FOUNDED THE STURGE-WEBER
FOUNDATION IN 1986, AND MY
DAUGHTER WAS BORN WITH
STURGE-WEBER, BILATERAL FACE AND
BILATERAL GLAUCOMA AND MOST OF
HER LEFT SIDE OF HER BRAIN IS
CALCIFIED AND IS NOT WORKING.
SO THE RIGHT SIDE TOOK OVER.
OUR CHALLENGES, UNLIKE MANY OF
THOSE WHO ARE DIRECTLY IMPACTED
BY A LYMPHATIC COMPONENT TO
THEIR SYNDROME AND THEIR DISEASE
ARE MANY BECAUSE WE CROSS
MULTISYSTEMS.
SEIZURES USUALLY START BY AGE 1,
YOU KNOW, TYPICAL TREATMENTS
WITH ANTICONVULSANT, GLAUCOMA,
70% OF THEM USUALLY PRESENT WITH
GLAUCOMA WHERE THE BIRTH MARK IS
OVER THE AFFECTED EYE TYPICALLY.
THERE CAN BE PARASYMPATHETIC
WITH THE OTHER BUT IT'S RARE.
DEVELOPMENTAL DELAYS, MANY OF
THEM HAVE THEM.
DEPENDING ON WHEN THE SEIZURES
START, WE HAVE FOUND THAT IF
THEY START AFTER THE AGE OF 1,
IT'S USUALLY A LITTLE BETTER
OUTCOME FOR THAT.
LEARNING DISABILITIES, VERY,
VERY COMMON.
COMORBIDITIES OF ADHD ARE THERE
AS WELL AS OTHER LEARNING
CHALLENGES.
THE IMPAIRED BLOOD FLOW TO THE
BRAIN IS A SPECIFIC CHALLENGE
FOR OURS BECAUSE IT CAN CAUSE
ISCHEMIC STROKES.
AND OFTENTIMES THE SEVERE
MIGRAINES ARE REALLY MAYBE A
STROKE OR VICE VERSA.
SO MUCH AS DENISE SAID WHICH WAS
A VERY EXCELLENT PRESENTATION BY
THE WAY, DENISE, WE HAVE ALL OF
THOSE FINANCIAL, MEDICAL
CHALLENGES.
TO THAT END, WE ESTABLISHED 26
CENTERS AROUND THE COUNTRY TO
COORDINATE WITH EACH OTHER AND
DIFFERENT SPECIALTIES WITHIN
THEIR INSTITUTION TO ADDRESS
THESE NEEDS.
BEHAVIORAL PROBLEMS, ESPECIALLY
IN THE MIDDLE SCHOOL YEARS, WHEN
THE HORMONES ARE RAGING, A LOT
OF THAT COMES UP.
AND THEN ENDOCRINE ISSUES AS
WELL, GROWTH HORMONE
ABNORMALITIES ARE THERE, AND SO
SOME MEDICATIONS ARE TAKEN FOR
THAT.
THOSE ARE THE MEDICAL
CHALLENGES, BUT MANY OF THE
THINGS DENI DENISE POINTED OUT R
TALK AND THE PREVIOUS SPEAKERS
AS WELL.
ACCESS TO CARE AND THE FINANCIAL
BURDEN ON THE FAMILY IS GREAT.
SO THE FOUNDATION HAS
ESTABLISHED A COUPLE PATIENT
FUNDS TO ASSIST WITH TRAVEL
PAPER FUNDING FOR HOTELS, GAS,
AIRFARE, THAT TYPE OF THING.
SO WE'RE TRYING TO ADDRESS THAT
CHALLENGE AND ALSO, LIKE I SAID,
WITH THE 26 CENTERS.
OH, HMMM.
DON'T KNOW WHAT HAPPENED WITH
THAT ONE.
I APOLOGIZE.
THE RESOURCE CHALLENGES,
DIAGNOSTIC, AGAIN, IT'S HARD AS
DENISE SAID TO FIND THE EXACT
CARE PROVIDER THAT WILL ADDRESS
THE PROGRESSIVE -- BECAUSE IT IS
A PROGRESSIVE DISEASE, SO AT ANY
GIVEN TIME THROUGHOUT YOUR
LIFETIME, YOU'RE GOING TO NEED
DIFFERENT ACCESS TO CARE.
TREATMENT, AGAIN, WE FOUND THE
GENE A LITTLE OVER 10 YEARS AGO,
SO WE'RE WORKING ON MOUSE AND
ANIMAL MODELS, WHICH WILL HELP
US PROGRESS OUR ABILITY TO
PROVIDE GREATER TREATMENT FOR
THE KIDS AND ADULTS.
A LOT OF INFORMATION GAPS, OH,
MY GOSH, THEY ARE TOO NUMEROUS
TO MENTION, BUT BECAUSE IT IS A
SYNDROME, EACH CASE IS UNIQUE,
EVEN THOUGH THEY'VE GOT THE SAME
GNAQ GENE MUTATION.
IT JUST DEPENDS ON HOW IT
EXPRESSES.
ACCESS TO SPECIALISTS IS AGAIN,
AS DENISE POINTED OUT, IT'S
HARD, IT'S EXPENSIVE.
FINANCIAL STRUGGLES, FOR
INSTANCE, LIKE WITH MY DAUGHTER,
WE PAY $26,000 A YEAR OUT OF
POCKET MEDICAL FOR 26 YEARS
UNTIL SHE WENT ON HER OWN
INSURANCE.
AND WE ARE VERY FORTUNATE
COMPARED TO SOME OTHERS.
I KNOW I HAD ONE PATIENT THAT
THEIR MEDICATION IS $1,000 A
MONTH AND THEY JUST HAVE TO PAY
FOR IT OUT OF POCKET.
SOCIAL CHALLENGES, I'M SURE
WE'LL HEAR FROM OTHERS AS WELL.
IT CAN BE CHALLENGING TO MAKE
AND MAINTAIN FRIENDSHIPS.
NOT ONLY FOR THE PATIENT BUT FOR
THE FAMILY AS WELL.
BECAUSE WE'VE FOUND AND HEARD
THROUGH MANY OF OUR FAMILIES
THAT YOU OFTEN DON'T GET INVITED
TO A GATHERING BECAUSE YOU'RE
AFRAID YOUR CHILD IS GOING TO
HAVE A SEIZURE, OR THEY DON'T
KNOW WHAT TO SAY TO THE PARENT
WHEN THERE'S A CHALLENGE COMING
UP.
SO WHAT WE DO TO CIRCUMNAVIGATE
THAT IS WE DO A LOT OF ONLINE
HEMONTHLY FORUMS FOR THE
CAREGIVERS AS WELL AS THE
PATIENTS AND WE ALSO HAVE A
MENTAL HEALTH EXPERT IN BOSTON
WHO COORDINATES AND FACILITATES
A CHAT ON THAT PARTICULAR
ASPECT.
SO AS YOU CAN SEE FROM MY LITTLE
FRIEND WITH HIS BLUE MOHAWK,
HE'S CHOSE TO JUST EXPRESS
HIMSELF, YOU KNOW, I JUST LOVE
HIM.
HE'S JUST -- BUT ONE OF THE
THINGS YOU CAN SEE FROM HIS FACE
IS THERE IS THAT HYPERTROPHY TO
THE SOFT TISSUE AREA, AND THAT
IS A REAL BIG CHALLENGE THAT WE
HAVE IN MANY OF THEM.
WE DON'T HAVE ANY EXPERTS THAT
ARE REALLY ADDRESSING THAT.
IT MAY BE ANOTHER GENE THAT'S
AFFECTED.
WE DON'T KNOW.
AND AGAIN, MUCH LIKE RARE
DISEASES, WE'RE ONLY LIMITED BY
THE AMOUNT OF MONEY THAT WE HAVE
TO GIVE FOR RESEARCH FOR TISSUE
DONATION AND THINGS OF THAT
NATURE.
SO KIND OF A CATCH 22, BUT I AM
PROUD OF WHAT WE'VE DONE ON A
SHOESTRING BUDGET.
THE THREE WISHES THAT WE HAVE
ARE OBVIOUSLY TO FIND A CURE.
AND I KNOW THAT TERMS IS THROWN
AROUND BY A LOT OF PEOPLE AND
WHAT EXACTLY DOES A CURE MEAN?
WHETHER I STARTED THE
FOUNDATION, MY HOPE AND DREAM
WAS THAT WE WOULD BE ABLE TO
FIND WHAT CAUSED IT AND
INTERVENE SO THAT NOBODY HAD TO
HAVE STURGE-WEBER AGAIN.
SO THAT WAS THE ULTIMATE GOAL,
AND THAT WOULD BE THE CURE.
BUT IN THE MEANTIME, JUST TO GET
TREATMENTS THAT CAN IMPROVE THE
QUALITY OF LIFE AND CARE FOR
THEM IS A TOP PRIORITY.
SO WE ARE WORKING ON MOUSE
MODELS AND ZEBRAFISH MODELS ARE
PROVING REALLY, REALLY GOOD.
THERE ARE ACTUALLY -- DENISE IS
A CANCER DRUG -- DENISE HAS A CG
THAT WE'RE LOOKING INTO.
MIGRAINES SEEM TO IMPACT
PEOPLE'S LIVES TREMENDOUSLY WHEN
THEY'RE AT SCHOOL, WORK, TIME
OFF WORK.
WE'VE HAD PEOPLE LOSE JOBS
BECAUSE OF THE MEDICAL ISSUES.
SO IF WE COULD TACKLE A BETTER
UNDERSTANDING OF THE MIGRAINES
AND THEIR IMPACT ON THE PATIENT
AND FAMILY, THAT WOULD BE A BIG
ONE.
AND THE OTHER THING, YOU KNOW,
MY DAUGHTER IS 38 NOW.
SH'S STILL HAVING LASER
TREATMENTS, STILL HAVING TISSUE
REDUCTION ON HER UPPER LIP
BECAUSE IT'S SO FAT AND THICK,
SHE'S HAD THREE ACTUALLY.
SO I WOULD LIKE TO SEE AN
IMPROVEMENT IN THE LASER.
I MEAN, WHY SHOULD SOMEONE,
AFTER 40 YEARS, STILL HAVE TO
HAVE LASER TREATMENTS?
IT MAKES -- IT'S ALMOST CRUEL.
SO WE'LL BE WORKING WITH ASLMS
AND SOME OF THE OTHER
ORGANIZATIONS TO SEE WHAT WE CAN
DO TO GET A MORE EXPEDITIOUS
TREATMENT AS FAR AS THAT GOES.
I WAS HOPING TO HAVE A SLIDE FOR
YOU ALL BUT WE DIDN'T GET IT IN
THE DECK IN TIME.
WE RECENTLY HAD A CONFERENCE IN
PHILADELPHIA THIS SUMMER AND WE
HAD AN 82-YEAR-OLD MAN THAT HAD
STURGE-WEBER, AND AN 8 MONTH OLD
BABY.
AND IT'S JUST SUCH AN EVOCATIVE
PHOTO BECAUSE HE HAS SUCH
OVERGROWTH, VERY ELEPHANTINE,
NODULAR, AND IT'S VERY
INDICATIVE OF WHAT WE HAVE TO
FIGURE OUT AS TO WHY WE CAN'T
GET TO THE ROOT CAUSE OF THAT.
AND THEN YOU'VE GOT THE HOPE OF
THE FUTURE WITH THAT LITTLE
BABY, WHO, YOU KNOW, WE INVEST
WISELY, WE SHOULD BE ABLE TO
IMPROVE THEIR QUALITY OF LIFE
AND CARE TOO, BUT I APPRECIATE
YOU ALL GIVING TIME TODAY, AND
AGAIN, APOLOGIZE FOR THE
SPOTTINESS, BUT MONTANA IS A
GREAT PLACE TO VISIT BUT NOT SO
GREAT ON INTERNET.
THANK YOU SO MUCH.
>> THANK YOU, KAREN.
THANK YOU FOR YOUR RESILIENCE
TOO, TO OVERCOME YOUR TECHNICAL
CHALLENGES.
WE REALLY APPRECIATE THIS
PRESENTATION.
WITH THAT, WE WILL MOVE TO THE
NEXT PRESENTER.
CHRISTY -- OH, SORRY, JEN BOYCE
AND KEVIN BOYCE, THEY ARE THE
FOUNDERS OF WILL'S POWER.
AND I HOPE YOUR CONNECTION IS
WELL.
>> ALL RIGHT!
CAN YOU HEAR US OKAY?
>> YES.
>> EXCELLENT.
GOOD MORNING, EVERYONE.
AND THANK YOU FOR INVITING US TO
PARTICIPATE IN THIS FORUM TODAY.
WE ARE JEN AND KEVIN.
OUR CREDENTIALS MIGHT BE
SOMEWHAT LACKING IN THE FIELD OF
LYMPHATIC DISEASE.
OUR REASON FOR BEING INVOLVED
HAS BEEN FIRSTHAND IN NATURE,
AND OUR SON HAS A GENERALIZED
LYMPHATIC ANOMALY.
HE WAS DIAGNOSED IN 2022 AT THE
AGE OF 9, FOLLOWING
APPROXIMATELY TWO YEARS OF
REPEATED EXTENSIVE
HOSPITALIZATIONS, WHERE WE WERE
TOLD ON MANY OCCASIONS TO
PREPARE FOR THE WORST.
AFTER HIS DIAGNOSIS AND AFTER
INTENSE INTERNET RESEARCH AND
SCANNING OF SOCIAL MEDIA
CHANNELS, WE QUICKLY LEARNED OUR
SON'S EXPERIENCE WITH FINDING A
TIMELY AND ACCURATE DIAGNOSIS
FOR HIS CONDITION WAS NOT
UNIQUE.
IT IS ENCOUNTERED REGULARLY BY
PATIENTS WITH LYMPHATIC
ANOMALIES.
BEING RARE DISEASES, PATIENTS
WITH COMPLEX LYMPHATIC ANOMALIES
SUFFER FROM BOTH THEIR
DEBILITATING MEDICAL CONDITION
AND A GENERAL LACK OF AWARENESS
OF THE ACTUAL DISEASE WITHIN THE
GREATER MEDICAL COMMUNITY.
IN OUR SON'S CASE, DESPITE BEING
ADMITTED TO OUR LOCAL CHILDREN'S
HOSPITAL WITH A VASCULAR DISEASE
CLINIC, IT WAS NOT UNTIL HIS
FOURTH EMERGENCY ICU VISIT IN
LESS THAN 18 MONTHS THAT HE WAS
FINALLY DECIDED TO HAVE A
TRANSFER OF CARE TO A MORE
SPECIALIZED CENTER.
UNFORTUNATELY, WE LEARNED THAT
DESPITE THE FACT THAT KYLE OR
WHITE BLOOD HAS BEEN DOCUMENTED
SINCE THE TIME OF HIPPOCRATES
EVEN IN 2024, LYMPHATIC DISEASES
ARE VERY POORLY UNDERSTOOD BY
MOST MODERN MEDICAL
PRACTITIONERS.
ONCE OUR SON'S CARE WAS
TRANSFERRED TO THE LEADING
CHILDREN'S HOSPITAL IN CANADA,
IT WAS STILL REGULARLY NECESSARY
TO EDUCATE AND PROVIDE CURRENT
RELEVANT RESEARCH PAPERS TO THE
TEAM OF SCIENTISTS TO CARE FOR
HIM ON A DAILY BASIS.
HE WAS ADMITTED TODAY A GENERAL
CACARE FLOOR FOR OVER 50 DAYS IN
2021 AND THE TEAMS ASSIGNED
INITIALLY HAD NO IDEA WHAT HIS
DISEASE ENTAILED.
AS A RESULT OF OUR EXPERIENCES
WE FELT IT NECESSARY TO START
OUR FOUNDATION IN 2022 TO ASSIST
PATIENTS WITH THESE LYMPHATIC
DISEASES AND ALSO THEIR FAMILIES
IN CANADA.
OUR GOAL IS TO CREATE AWARENESS
ABOUT LYMPHATIC DISEASE,
ESPECIALLY COMPLEX LYMPHATIC
ANOMALIES, AND TO PROMOTE
EDUCATION FOR THE GENERAL
POPULATION AND MEDICAL
COMMUNITY, BUT WHAT WE REALLY
WANT TO PROVIDE IS HOPE.
HOPE FOR THE FAMILIES AND
PATIENTS AS THEY FACE THE
DISEASE FULL OF UNKNOWNS.
>> THROUGH THE HARD WORK OF THE
TEAM AT SICK KIDS IN TORONTO,
OUR SON WAS LUCKY ENOUGH TO GAIN
ACCESS TO A NOVEL THERAPEUTIC
TREATMENT.
HE'S BEEN RELATIVELY STABLE
SINCE 2022 AND HIS QUALITY OF
LIFE HAS IMPROVED DRAMATICALLY
AS WE SEE IN THE SLIDES HERE.
WE CANNOT ARTICULATE HOW
INDEBTED WE ARE FOR THE TIMING
AND THE COLLABORATIVE EFFORTS
THAT ASSISTED OUR SON IN HIS
CARE AND SUBSEQUENT IMPROVEMENT
AND CONDITION.
BUT HIS JOURNEY HAS NOT BEEN
EASY AND THE CHALLENGES THESE
PATIENTS ENCOUNTER BY THE
MEDICAL SYSTEM ARE DAUNTING.
WE WANT TO LET PEOPLE KNOW THE
CHALLENGE IS WORTH IT.
OBTAINING A CORRECT DIAGNOSIS
MAY SEEM OBVIOUS FOR DISEASES
SUCH AS OUR SON'S, BUT IT IS
NOT.
AS RARE DISEASES, THESE ARE
UNDERSTANDABLY DIAGNOSED AFTER
AN EXCLUSION OF MORE COMMON
DISEASES AND IT'S A DRAWN-OUT
PROCESS AND UNFORTUNATELY IF
IT'S NOT IDENTIFIED QUICKLY
ENOUGH, THE CONSEQUENCES ARE
DIRE FOR THE PATIENT.
FURTHERMORE, ACCESS TO
APPROPRIATE CENTERS CAPABLE OF
CLINICALLY IDENTIFYING, HAVING
THE CORRECT IMAGING, THE
APPROPRIATE TESTING FACILITIES
FOR SAMPLING METHODS IS ALSO
REALLY CHALLENGING.
THERE ARE NO LYMPHATIC HOSPITALS
IN CANADA.
MOST DISEASES OF THE LYMPH ARE
CATEGORIZED IN THE GREATER
MEDICAL COMMUNITY MUCH LIKE THIS
PANEL IS, AS A SUBSET OF BLOOD
DISEASE.
WHEN IN FACT LYMPH IS NOT BLOOD.
LYMPH HAS ITS OWN UNIQUE
PROPERTIES AND IS THE MAIN
CONDUIT OF THE IMMUNE SYSTEM.
AT SOME POINT, ITS IMPORTANCE IN
MODERN MEDICINE AND EDUCATION IN
THE MEDICAL COMMUNITY HAS TO BE
PROPERLY PRIORITIZED.
WHEN YOUR PATIENT, WHEN YOU
GOOGLE LYMPH DISEASE DOCTOR, YOU
FIND THIS OUT PRETTY QUICKLY.
THERE ARE NO LYMPHOLOGISTS
LISTED IN NORTH AMERICA.
YOU GOOGLE ATLANTA, THE
LYMPHATIC ASSOCIATION OF NORTH
AMERICA AND YOU FIND A LOT OF
ATLANTA DEL RAY BUT WHEN YOU
FINALLY DO ACCESS THE SITE IT
APPEARS TO BE DEALING WITH JUST
CERTIFICATION TO TREAT
LYMPHEDEMA.
EVEN IF THE PRIMARY CARE MEDICAL
DOCTOR SUSPECT LYMPHATIC DISEASE
PATIENTS ARE LOOKING FOR WHERE
TO TURN.
IT IS NOT AS OBVIOUS AS ONE
WOULD EXPECT.
EVEN WITHIN THE MEDICAL
COMMUNITY, EDUCATION ABOUT
COMPLEX LYMPHATIC ANOMALIES MUST
ALSO BE IMPROVED.
OUR SON'S CONDITION SUFFERS FROM
THE FACT THAT IT WAS AND ALSO IS
STILL REFERRED TO AS LYMPH FAN
GEE MATOSIS BY SOME
PRACTITIONERS, EVEN IN THE NAME
OF THE PATIENT GROUP SUPPORTING
THESE PATIENTS, LGDA.
THIS IS EXTREMELY CONFUSING FOR
PATIENTS WITH NO MEDICAL
KNOWLEDGE AND EXPERIENCED
MEDICAL TEAMS.
IT'S REALLY IMPORTANT IN 2024
THE TERMINOLOGY BE STANDARDIZED.
OUR MAJOR RESOURCE CHALLENGES
FOR PEOPLE LIVING WITH COMPLEX
LYMPHATIC ANOMALIES INCLUDE
OBTAINING ADEQUATELY TRAINED
MEDICAL PERSONNEL.
THERE NEEDS TO BE A WAY FOR
PRIMARY CARE DOCTORS TO MORE
EASILY ACCESS THE NETWORK OF
EXPERIENCED TEAMS TO HELP
PROVIDE CARE FOR PATIENTS.
IN OUR EXPERIENCE FROM THOSE CON
BT TACTING OUR FOUNDATION,
THERE'S BEEN A RESISTANCE FROM
MEDICAL PROFESSIONALS IN SMALLER
CENTERS TO MAKE THE REFERRAL TO
MORE EXPERIENCED CENTERS.
POSSIBLY FROM NOT HAVING AN
ESTABLISHED REFERRAL NETWORK IN
PLACE.
IF SUCH A REFERRAL NETWORK IS
FORMULATED BY A REPUTABLE
ORGANIZATION, AT LEAST IT WOULD
PROVIDE CREDENCE THAT SUCH
REFERRALS ARE INDEED POSSIBLE.
HOWEVER, OBTAINING
TRANSPORTATION TO SUCH REFERRALS
IS ALSO VERY CHALLENGING,
ESPECIALLY IN CANADA, WHERE OUR
GEOGRAPHY IS SO EXPANSIVE AND
FLIGHTS ARE VERY EXPENSIVE.
IDEALLY, DESIGNATED LYMPHATIC
CENTERS NEED TO EXIST.
PERHAPS BY PROVIDING DESIGNATION
FROM AN EXPERT PANEL FOR CENTERS
EXPERIENCED AND CAPABLE IN
TREATING COMPLEX LYMPHATIC
DISEASES.
>> ADDITIONALLY, IF LYMPHATIC
DISEASE SUCH AS A COMPLEX
LYMPHATIC ANOMALY IS SUSPECTED,
STANDARDIZED MED THOD LOGICAL
PROCEDURES FOR BLOOD OR KYLE
SAMPLING AND IDENTIFYING LABS TO
SEND SUCH SAMPLES TO WOULD
REALLY GREATLY ASSIST IN
PROVIDING AN ACCURATE DIAGNOSIS
TO EARLIER STAGES OF TESTING AND
PROVIDE PRACTITIONERS WITH
PROPER DIAGNOSTIC TOOLS.
MOREOVER, ACCESS TO NOVEL
MEDICATIONS FOR THE TREATMENT OF
THESE DISEASES USING THAT
DIAGNOSTIC DATA IS A REAL MAJOR
CHALLENGE.
GREATER AVAILABILITY FROM
PHARMACEUTICAL COMPANIES TO
DESIGNATED LYMPHATIC CENTERS
WOULD OBVIOUSLY BENEFIT PATIENTS
WITH THESE CONDITIONS.
MIND YOU, ONCE THE CONDITION IS
IDENTIFIED, THERE ARE HUGE
FINANCIAL AND INSURANCE
CHALLENGES TO THESE PATIENTS.
FINALLY, GAINING ACCESS TO
SUPPORTIVE RESOURCES WHETHER
THEY BE EDUCATIONAL,
NUTRITIONAL, PSYCHOLOGICAL OR
REHABILITATIVE, IT'S NECESSARY
FOR THESE PATIENTS, AND
CAREGIVING SUPPORTS, THE BURDEN
THAT IS PLACED ON THE FAMILIES
BY THESE TYPICAL CHILDHOOD
TEASES IS GREAT.
BALANCING WORK AS WELL AS HOME
CARE FOR THE OTHER SIBLINGS IN A
FAMILY IS SO HARD WHEN YOU HAVE
THIS DISEASE, EVEN IF SUCH
SUPPORTS EXIST.
>> OUR TOP THREE WISHES FOR
PATIENT AND FAMILIES TOUCHED BY
LYMPHATIC DISEASE.
NUMBER ONE, INCREASED EDUCATION
OF LYMPHATIC DISEASES WITHIN THE
MEDICAL EDUCATION SYSTEM.
IDEALLY THIS WOULD BE REFLECTED
IN HAVING DESIGNATED CENTERS FOR
TREATMENT OF THE DISORDERS AND
TO STOP USING LIMB FAN JOE CYST
TERMINOLOGY.
ADDITIONALLY FOR THOSE INVOLVED
IN THE TREATMENT OF LYMPHATIC
MALFORMATIONS WHICH OCCUR ONE IN
EVERY 4,000 LIVE BIRTHS,
COMMUNICATING WITH THE PATIENTSS
OF THOSE TREATED THAT THERE MAY
BE POSSIBILITY OF MORE EXTENSIVE
UNDERLYING DISEASE.
NUMBER TWO, INCREASED FUNDING OF
RESEARCH OF LYMPHATIC DISEASES
ESPECIALLY RARE DISEASES, AND
THE DEVELOPMENT OF AN ALGORITHM
OR CLINICAL PRACTICE GUIDELINE
TO BE USED BY PRIMARY CARE
PHYSICIANS WITH RESPECT TO
PEDIATRIC NON-TYPICAL
PRESENTATIONS OF PULMONARY
EFFUSIONS, CHYLOTHORAX AND
ABDOMINAL EDEMA SO THAT REFERRAL
CAN BE INITIATED.
AND FINALLY, INTERNATIONAL
MEDICALLY TRAINED PATIENT
LIAISON GROUP TO ADVOCATE ON
BEHALF OF PATIENTS WITH
LYMPHATIC DISEASE SO THAT
WORLDWIDE A MEDICAL ADVOCATE CAN
ASSIST CAREGIVERS WITH EDUCATING
MEDICAL TEAMS IF THE LYMPHATIC
DISEASE IS INDEED SUSPECTED.
THANK YOU SO MUCH FOR YOUR TIME
AND WE LOOK FORWARD TO YOUR
QUESTIONS.
>> THANK YOU VERY MUCH, JEN AND
KEVIN, WITH THIS POWERFUL
INFORMATION YOU SHARED WITH US,
AND THEN WE'LL BE TALKING ABOUT
IT IN THE DISCUSSION PART.
SO WE ARE GOING TO MOVE TO THE
NEXT PRESENTER, CHRISTY COLLINS,
PRESIDENT OF THE MICROCEPHALY
CAPILLARY MALFORMATION.
CHRISTY?
>> HI.
THANK YOU.
MY NAME IS CHRISTY COLLINS.
MY DAUGHTER WITH THE SYNDROME IS
15.
I'LL JUST GIVE YOU A LITTLE
HISTORY.
IT WAS FIRST DESCRIBED IN 1997
AND THAT'S SIGNIFICANT BECAUSE
OUR POPULATION SKEWS YOUNG FOR
THAT REASON.
PEOPLE BORN BEFORE THAT ARE LESS
LIKELY TO HAVE A DIAGNOSIS.
SOME OF THOSE PEOPLE WILL HAVE A
CRIPPLE -- DIAGNOSIS.
OUR ORGANIZATION WAS FOUNDED
WHEN MY DAUGHTER WAS ABOUT
1-YEAR-OLD IN 2010.
THE PROS GENE DISCOVERIES FOR
PIK3CA HAPPENED AROUND 2012, AND
THAT PUTS US IN THE GROUP OF
CONDITIONS ALONG WITH CLOVES
SYNDROME AND CRIPPLE TRINANI
SYNDROME WHICH BOTH HAVE
LYMPHATIC INVOLVEMENT AS MORE OF
A DEFINING FEATURE.
AND MOST OF WHAT I KNOW ABOUT
LYMPHATIC INVOLVEMENT IS FROM
FOLLOWING THOSE PATIENT
COMMUNITIES AND FOLLOWING
VASCULAR ANOMALIES, MEDICAL AND
RESEARCH MEETINGS.
OUR CONDITION HAS HAD A FEW
NAMES OVER THE YEARS AND NOW
IT'S USUALLY CALLED M CAP.
FOR THIS PRESENTATION I USUALLY
SAY M-CM BUT IT'S ALL THE SAME
CONDITION.
WE MAINTAIN AN INTERNATIONAL
CONTACT REGISTRY WITH ABOUT 400
PATIENTS IN IT, A LITTLE LESS
RIGHT NOW.
I KNOW SOME ABOUT THE LYMPHATIC
INVOLVEMENT IN OUR POPULATION
FROM INTERACTING WITH PATIENTS
AS A PEER.
BUT I ALSO EMAILED OUR CONTACT
REGISTRY AND SOLICITED PEOPLE'S
FEEDBACK ABOUT THEIR EXPERIENCE
WITH LYMPHATIC INVOLVEMENT, AND
SO I HOPE TO BRING THOSE INTO TL
HERE NOW.
JUST A LITTLE BIT ABOUT OUR
SYNDROME.
I'M NOT GOING TO FULLY DESCRIBE
IT BECAUSE MOSTLY I WANT TO TALK
ABOUT THE LYMPHATIC ASPECTS.
IT'S A PIK3CA-RELATED PROS
CONDITION, AND THE DEFINING
FEATURE IS BRAIN OVERGROWTH, AND
OUR PATIENTS OFTEN HAVE
HYDROCEPHALUS, PROGRESSIVE
CEREBELLAR OVERGROWTH, WHERE
THEY END UP HAVING A KIND OF KEY
ARI MALFORMATION.
CHIARI TECHNICALLY IS COU CONGEL
BUT WHAT HAPPENS IN OUR PATIENTS
CAN BE PROGRESSIVE.
IT SOMETIMES ISN'T THERE AT
BIRTH.
THEN THERE WILL BE MIGRATION
DEFECTS SOMETIMES AND VERY
COGNITIVE DISABILITIES.
THOSE EFFECTS CAN RANGE FROM
SIMPLE LEARNING DISABILITIES TO
MORE SEVERE DEVELOPMENTAL
DISABILITY.
SO THE PICTURE THAT I PUT ON
THIS SLIDE SHOWS THE SAIR CERER
OVERGROWTH PROGRESSING OVER
TIME.
THIS CREATES A COUPLE OF
PROBLEMS IN THE BRAIN.
IT'S THOUGHT TO CREATE
OBSTRUCTIVE HYDROCEPHALUS.
THE CHIARI MALFORMATION ITSELF
SOMETIMES REQUIRES SURGERY, AND
IT CAN ALSO IMPACT THE SPINAL
CORD FOR PEOPLE WHO GET POCKETS
OF FLUID IN THE SPINAL CORD.
AND THEN FURTHER DOWN WITH THE
CNS INVOLVEMENT, OUR PATIENTS
OFTEN WILL HAVE A TETHERED CORD
AS WELL, AND THOSE ARE ALL SORT
OF PART OF THIS SYSTEM OF
ABNORMALITIES THAT DOMINATES THE
DEFINITION OF OUR CONDITION.
AND GENERALLY, COMPARED TO THE
OTHER PROS CONDITIONS LIKE
CLOVES AND ET AND EVEN SOME OF
THE LESS SIMILAR ONES, WE
GENERALLY HAVE MORE MILDLY
ACTIVATING MUTATIONS WITH HIGHER
ALLELE FREQUENCIES SO IT AFFECTS
MORE OF THE BODY, SO THE DISEASE
EFFECTS ARE LESS FOCAL AND MORE
DIFFUSE.
SO THIS WAS A LITTLE BIT OF A
CONUNDRUM TO ME HOW I WOULD
PRESENT THIS BECAUSE LYMPHATIC
INVOLVEMENT IS NOT CHARACTERIZED
IN MCAP.
ON OUR WEBSITE, WE HAVE A 10 TO
12-PAGE SYNDROME DESCRIPTION AND
THERE'S NO MENTION EVER OF LYMPC
INVOLVEMENT IN IT, BUT I KNOW
FROM COMMUNITY REPORTS THAT ARE
SOME PEOPLE DO HAVE LYMPHATIC
INVOLVEMENT, AND I'VE LISTED
SOME OF THE INVOLVEMENT THAT I'M
FAMILIAR WITH HERE.
IN ADDITION TO THIS SPECIFIC
LYMPHATIC DEFECTS THAT PEOPLE
DESCRIBE, WE HAVE MANY REPORTS
OF CELLULITIS AND WE HAVE
REPORTS OF PRENATAL PLEURAL
EFFUSION, AND THEN WE ALSO HAVE
PLEURAL EFFUSION AS AN
INCIDENTAL FINDING ON IMAGING,
AND THEN MANY PATIENTS HAVE
EXTREMELY LARGE TONSILS.
AS I WAS TRYING TO FIGURE OUT
HOW I WOULD DESCRIBE LYMPHATIC
INVOLVEMENT IN A DISEASE THAT
PRESUMABLY DOESN'T HAVE
LYMPHATIC INVOLVEMENT, I
ACCIDENTALLY OPENED UP THIS
PAPER THAT SPECIFICALLY SAYS
THAT MCAP DOES NOT HAVE
LYMPHATIC INVOLVEMENT, AND THEN
GOES ON TO DESCRIBE FOUR
PATIENTS WITH LYMPHATIC
INVOLVEMENT.
SO THIS PAPER MADE MY POINT FERT
PERFECTLY.
MY EXPERIENCE AS AN ADVOCATE
WITH THIS IS THAT I'M VERY
FAMILIAR WITH THE PROBLEMS
CAUSED BY LYMPHATIC INVOLVEMENT
IN THE OTHER PROS PATIENT
COMMUNITIES AND WHAT AN
INCREDIBLE CHALLENGE IT IS FOR
ALL THE REASONS THAT THE OTHER
ADVOCATES HAVE ALREADY LAID OUT
SO WELL.
AND I WORRY A LOT THAT OUR
PATIENTS HAVE THIS SORT OF
SUBCLINICALLY THAT'S GOING TO
EMERGE AS A BIGGER CLINICAL
PROBLEM AS THEY REACH ADULTHOOD
AND NO LONGER HAVE ACCESS TO
PEDIATRIC SPECIALTY CARE.
SO I'M JUST GOING TO DESCRIBE
TWO PATIENTS.
I INTERVIEWED THE FIRST ONE, THE
CAREGIVER FOR THIS YOUNG MAN.
AND THEN THE SECOND ONE IS A
MOTHER I EMAILED WITH, AND I'VE
KNOWN HER FOR A FEW YEARS.
SO THE YOUNG MAN IS UNUSUAL IN
OUR POPULATION IN THAT HE WAS
DIAGNOSED WITH LYMPHEDEMA IN
FOUR LIMBS IN INFANCY.
HE HAD NO DIAGNOSIS AT FIRST,
AND THEN HYDROCEPHALUS TREATMENT
SENT HIM TO BIG CHILDREN'S
HOSPITAL, AND THEY REFERRED HIM
TO A LYMPHEDEMA CLINIC.
HIS EXPERIENCE AT THAT TIME WAS
THAT THEY HAD A LOO LONG WAIT FA
THERAPIST.
INSURANCE ONLY COVERED 8 WEEKS
OF TREATMENT, AND HE COULDN'T
TOLERATE THE GARMENTS AND THE
WRAPPING.
HE HATED THEM.
AND THEN HE GREW OUT OF THEM AND
THEY JUST DIDN'T USE -- THEY
DIDN'T USE THE GARMENTS OR THE
WRAPPING.
AND HIS CAREGIVERS WERE TOLD
THAT -- HIS PARENTS, THAT AS HE
BECAME ACTIVE, THE LYMPHEDEMA
WOULD LESSEN, AND THAT ENDED UP
BEING TRUE.
SO HE WAS NOT REALLY GETTING ANY
KIND OF ACTIVE TREATMENT FOR
MANY YEARS, AND THEN AT AGE 15,
ORTHOPEDIC PROBLEMS REDUCED HIS
ACTIVITY LEVEL, AND THE FAMILY
SOUGHT OUT TREATMENT AGAIN.
AND IN THIS INTERVAL, THEY NOW
HAD ACCESS TO A ROBUST
LYMPHEDEMA CLINIC AND THEY NO
LONGER HAVE THIS RIDICULOUS
8-WEEK INSURANCE LIMIT.
AND HE NOW RECEIVES MANUAL LYMPH
DRAINAGE TWO TIMES A WEEK,
COMPRESSION, VIBRATION PLATES
THERAPY, PHYSICAL THERAPY,
OCCUPATIONAL THERAPY, AND HE HAS
A PUMP THAT TREATS HIS TRUNK AND
LEGS.
RECENTLY HE HAD ORTHOPEDIC
SURGERY, WHICH TRIGGERED A
DRAMATIC AGGRAVATION OF HIS
CONDITION, AND BECAUSE HE WAS
ALL SET UP WITH THIS CARE, HE
WAS ABLE TO BE TREATED AT HOME
WITH THIS PUMP AND THE
THERAPISTS THAT HE ALREADY HAD
IN PLACE, WHICH WAS A TREMENDOUS
BENEFIT, HEARING THE STORY, IT
WOULD HAVE BEEN DEVASTATING TO
HAVE TO MOVE THIS PATIENT IN
THIS CONDITION THAT HE WAS IN.
SO I THOUGHT THIS STORY WAS
INTERESTING BECAUSE IT DESCRIBES
THE LIMITATIONS ON CARE AND
INSURANCE COVERAGE, AND THEN HOW
MUCH THAT WAS TRANSFORMrd BY
THEIR EASY ACCESS TO A ROBUST
CLINIC.
THE OTHER PATIENT I WANTED TO
TELL YOU ABOUT IS CURRENTLY A
5-YEAR-OLD GIRL, AND THIS GIRL
IS A LOT LIKE MY GIRL, OR SHE
LOOKS A LOT LIKE MY GIRL TO ME,
BUT YOUNGER.
AND SHE HAS BIG PUFFY LEGS, AND
THIS IS VERY COMMON IN OUR
POPULATION, AND IT'S GENERALLY
THOUGHT TO BE OVERGROWTH.
I KNOW IN OUR CASE, IT'S ALWAYS
A QUESTION WE ALWAYS WONDER IF
THERE IS LYMPHATIC INVOLVEMENT.
SO THIS GIRL IS ACTUALLY SEEN --
BOTH OF THESE PATIENTS ARE SEEN
AT A SOPHISTICATED VASCULAR
ANOMALIES CLINIC.
THE MOM, THEY HAD PLEURAL
EFFUSION A AT A 20 WEEK SCAN.
THIS CHILD HAS HAD MULTIPLE
HOSPITALIZATIONINGS DUE TO
HOSPITALIZATIONS DUE TO
CELLULITIS, WHICH I DIDN'T KNOW
ABOUT UNTIL THIS MEETING.
THEIR DOCTOR RECOMMENDED
LYMPHATIC WRAPPING AND MASSAGE.
THE FAMILY DECLINED AND THE
FAMILY ALSO DECLINED LYMPHATIC
IMAGING.
IT IS UNCLEAR -- IT'S NOT THAT
THIS FAMILY IS NEGLIGENT.
IT'S YO UNCLEAR TO THIS FAMILY O
IS ALSO DEALING WITH LOTS OF
OTHER MEDICAL PROBLEMS, THAT
THESE SCANS AND TREATMENTS ARE
REALLY NEEDED.
SO I WAS TRYING TO THINK OF WHAT
CHALLENGES ARE REALLY SPECIFIC
TO OUR POPULATION BECAUSE I KNEW
THAT OTHER GROUPS WITH MORE --
WHERE LMI IS M LYMPHEDEMA IS MOL
TO THEIR CONDITION WOULD BE
COVERING SPECIFIC THINGS.
I THINK FOR US, A BIG PROBLEM IS
THAT OUR SYNDROME IS COMPLEX,
VARIABLE, AND POORLY
CHARACTERIZED.
OUR PATIENTS HAVE AUTISM
DIAGNOSES, THEY HAVE
DEVELOPMENTAL DISABILITY, MANY
PATIENTS ARE NON-VERBAL AND EVEN
WHEN THEY ARE VERBAL, SOMETIMES
THEIR COMMUNICATION IS STILL
UNRELIABLE.
SO IT IS MUCH HARDER TO ASSESS A
PATIENT LIKE THIS THAT CAN'T
TELL YOU HOW THEY'RE FEELING.
I'VE HEARD FROM MANY PATIENTS
THAT THEY DON'T TOLERATE
COMPRESSION.
TWO PEOPLE REPORTED TO ME
THAT -- I ACTUALLY WROTE THIS A
LITTLE INCORRECTLY ON MY SLIDE,
BUT TWO PEOPLE REPORTED THAT
TREATMENT REDIRECTED FLUID IN
WAYS THAT EXACERBATED PROBLEMS.
IN ONE OF THEM, IT WAS
COMPRESSION AND IN THE OTHER
ONE, IT WAS MASSAGE.
BUT THAT LEADS ME TO THINK THAT
THEIR CAN CONDITION WAS REALLYT
UNDERSTOOD BY THE PEOPLE
TREATING THEM.
OUR PATIENTS HAVE HYPOTONIA AND
JOINT HYPERMOBILITY.
EVEN FOR OUR BABIES, WHEN YOU
GET THEM DRESSED, I'VE HEARD
SOMEONE SAY IT'S LIKE GETTING AN
OCTOPUS IN A PAPER BAG.
SO IF YOU TELL A PARENT WHO'S
STRUGGLING WITH THIS THAT THEY
NOW NEED TO USE COMPRESSION
GARMENTS, IT'S INCONCEIVABLE.
OUR PATIENTS ALSO HAVE SENSORY
SENSITIVITIES, WHICH IS PROBABLY
CONTRIBUTING TO THEIR LACK OF
TOLERANCE OF GARMENTS.
TESTING FOR LYMPHATIC
INVOLVEMENT IS NOT WIDELY
OFFERED AND SOMETIMES NOT
ACCEPTED BY PATIENTS WHEN IT IS.
I DON'T REALLY HAVE WISHES BUT I
DID ASK THE WOMAN I INTERVIEWED
WITH THE 18-YEAR-OLD SON WHAT
HER WISHES WOULD BE, AND SHE
SAID SHOES AND CLOTHES THAT FIT.
I INCLUDED THAT HERE, I THOUGHT
IT WAS INTERESTING BECAUSE
ACTUALLY SHOES THAT FIT IS SUCH
A WIDELY SHARED WISH ACROSS OUR
POPULATION AND PROBABLY THE
OTHER PROS CONDITIONS AS WELL.
THAT'S IT.
THANK YOU.
>> THANK YOU, CHRISTY.
THANK YOU AGAIN FOR ANOTHER
POWERFUL PRESENTATION.
WE WILL MOVE TO THE NEXT
PRESENTATION BY MICHAEL
DELLINGER.
DR. DELLINGER IS THE DIRECTOR OF
RESEARCH OF LYMPHATIC
MALFORMATION INSTITUTE, AND HE
WILL BE SHARING A JOINT
PRESENTATION TODAY REPRESENTING
ALSO LYMPHANGIOMA -- AND
GORHAM'S DISEASE.
>> LIKE SELEN SAID, I'M MIKE
DELLINGER, DIRECTOR OF RESEARCH
FOR THE LYMPHATIC MALFORMATION
INSTITUTE, AND TODAY I'LL BE
REPRESENTING THE LMI AND LGBT.
LGDA,
TWO NON-PROFIT ORGANIZATIONS
FOCUSED ON IMPROVING THE LIVES
OF COMPLEX LYMPHATIC ANOMALY
PATIENTS.
CLAs ARE RARE DISEASES CAUSED
BY THE ABNORMAL DEVELOPMENT OF
LYMPHATIC VESSELS.
CLAs INCLUDE GENERALIZED
LYMPHATIC ANOMALY, GORHAM STOUT
DISEASE, GENERALIZED LYMPHATIC
ANOMALY, KAPOSI FORM
LYMPHANGIOMATOSIS, AND CENTRAL
CONDUCTING LYMPHATIC ANOMALY.
RECENTLY INVESTIGATORS HAVE
FOUND THAT CLAs CAN BE CAUSED
BY SOMATIC GENETIC MUTATIONS IN
LYMPHATIC AND -- CELLS.
OVER 10 YEARS AGO, THE LMI AND
LGDA WERE CREATED TO ADDRESS THE
NEEDS OF THE CLA PATIENT
COMMUNITY.
THE LMI AND LGDA WORK CLOSELY
TOGETHER TO SERVE THIS
COMMUNITY.
THE LMI'S PRIMARY FOCUS IS ON
ADVANCING GROUNDBREAKING
RESEARCH ON CLAs, AND SINCE
2010, THE LMI HAS INVESTED OVER
$5 MILLION INTO CLA RESEARCH.
THE LGDA ALSO HELPS ADVANCE
RESUCH BUT ITS PRIMARY FOCUS IS
ON SUPPORTING THE PATIENT
COMMUNITY, AND THE LGDA DOES
THIS THROUGH ADVOCACY,
EDUCATIONAL EFFORTS AND BY
CONNECTING PATIENTS WITH PEERS
AND NETWORKS OF CARE.
CLA PATIENTS EXPERIENCE SEVERAL
SIGNIFICANT CHALLENGES.
THESE INCLUDE DELAYS IN
DIAGNOSIS, WHICH ULTIMATELY
DELAY CARE.
THEY MAY LACK ACCESS TO
INFORMATION ABOUT CLAs, AND
THEY CAN EXPERIENCE CHALLENGES
NAVIGATING THE COMPLEX
HEALTHCARE SYSTEM.
CLAs ARE MAINLY DIAGNOSED IN
CHILDREN WHO CAN EXPERIENCE
DIFFICULTY TRANSITIONING TO
ADULT CARE.
KRACLA RESEARCHERS ALSO EXPERIEE
SEVERAL CHALLENGES.
THESE INCLUDE LIMITED FUNDING
OPPORTUNITIES.
ADDITIONALLY, STUD DI SECTIONS
MAY LACK REVIEWERRERS WITH
KNOWLEDGE ABOUT CLAs OR
LYMPHATIC DISEASES IN GENERAL.
ADDITIONALLY, PATIENT SAMPLES
ARE SCARCE, IMPACTING GENE
DISCOVERY AND VALIDATION
STUDIES.
SO OUR TOP THREE WISHES TO
IMPROVE THE CARE AND LIVES OF
CLA PATIENTS ARE TO IMPROVE THE
DIAGNOSIS OF CLAs, INCREASE
TREATMENT OPTIONS, AND INCREASE
ACCESS TO CARE.
SO INCREASING THE NUMBER OF
PATIENTS WITH A GENETIC
DIAGNOSIS AND SHORTENING THE
TIME TO DIAGNOSIS COULD MINIMIZE
DELAYS IN PATIENTS RECEIVING
APPROPRIATE TARGETED THERAPIES.
IDENTIFYING NEW DRUGS TO BE USED
ALONE OR IN COMBINATION WITH
EXISTING ONES COULD IMPROVE
PATIENT OUTCOMES.
AND BETTER ACCESS TO CARE COULD
LESSEN GEOGRAPHIC AND FINANCIAL
OBSTACLES EXPERIENCED BY
PATIENTS AND THEIR FAMILIES.
OUR TOP THREE WISHES TO SUPPORT
THE GROWTH OF CLA RESEARCH ARE
ADDITIONAL FUNDING
OPPORTUNITIES, ENHANCE ACCESS TO
PATIENT SAMPLES AND THE
ESTABLISHMENT OF A PATIENT
DATABASE.
SO ADDITIONAL FUNDING
OPPORTUNITIES ARE REQUIRED TO
SUPPORT THE GROWING NUMBER OF
CLA RESEARCHERS AND THE SCALING
UP OF RESEARCH PROJECTS.
THEY'RE ALSO NEEDED TO FOSTER
THE DEVELOPMENT OF THE NEXT
GENERATION OF CLA RESEARCHERS,
AND A CENTRALIZED BIOBANK AND
DATABASE COULD FACILITATE
GENETIC DISCOVERIES, AND RAISE
NEW CLINICALLY RELEVANT
QUESTIONS.
SO WITH THAT, I JUST WANT TO
THANK YOU FOR YOUR ATTENTION.
WE WANT TO THANK THE DEDICATED
RESEARCHERS AND CLINICIANS FOR
THEIR UNWAVERING COMMITMENT TO
CLAs AND MOST IMPORTANTLY WE
WANT TO THANK THE CLA PATIENT
COMMUNITY AND TOGETHER WE REMAIN
HOPEFUL THAT NEW TREATMENTS WILL
EMERGE, IMPROVE LIVES AND
BRIGHTER FUTURES FOR THOSE
AFFECT BID COMPLEX LYMPHATIC
ANOMALY.
NEXT I'D LIKE TO TURN OVER TO
OUR PATIENT REPRESENTATIVE, LIZ
BOVEE.
>> HI, EVERYONE.
THANK YOU FOR HAVING ME HERE
TODAY FOR REPRESENTING THE CLA
COMMUNITY.
I'D LIKE TO SHARE A LITTLE ABOUT
MY STORY AS WELL AS CHALLENGES I
HAVE FACED.
WHEN I WAS 4, I FELL OFF A CHAIR
AT THE DINING TABLE AND THAT
EVENING I HAD A LARGE LUMP ON MY
CHEST.
THE NEXT DAY AFTER GOING THROUGH
DIFFERENT MEDICAL TESTS AND
DIFFERENT -- SEEING DIFFERENT
DOCTORS, WE IDENTIFIED THAT I
HAD A GROWTH AROUND MY HEART AND
LUNGS ALONG WITH THE LUMP ON MY
CHEST.
AT THAT TIME, THERE WASN'T A
DIAGNOSIS FOR THIS DISEASE.
I UNDERWENT MULTIPLE SURGERIES
AND HAD LOTS OF MONITORING THAT
I FOLLOWED THROUGH UP THROUGH
UNTIL I WAS IN COLLEGE.
BACK IN 2019, I WAS DIAGNOSED
WITH LARGE LYMPH NODES AND MY
DOCTORS DECIDED IT WAS BEST FOR
ME TO GO TO THE E.R.
AT THE E.R. I WAS ACTUALLY
DIAGNOSED WITH CANCER.
AND I SPENT SEVERAL DAYS IN THE
HOSPITAL UNDERGOING TESTS
ULTIMATELY TO DETERMINE I DID
NOT HAVE CANCER.
THIS LED TO LOTS OF TESTING AND
WENT FROM DOCTOR TO DOCTOR TO
DOCTOR UNTIL I WAS ABLE TO GET A
DIAGNOSIS.
HOWEVER, FOR ME GETTING A
DIAGNOSIS DIDN'T INSTANTLY MEAN
TREATMENT.
MY DOCTORS DIDN'T UNDERSTAND
WHAT THE DISEASE REALLY WAS, AND
I KEPT BEING TOLD THAT I
DESERVED A DOCTOR WHO KNOWS HOW
TO TREAT MY DISEASE.
EVENTUALLY I WAS ABLE TO GET
CONNECTED WITH A VASCULAR
ANOMALY CLINIC AND START
TREATMENT.
AFTER A YEAR OF WORKING WITH
THAT CLINIC, I WAS ABLE TO
UNDERGO GENETIC TESTING IN WHICH
I TESTED POSITIVE FOR THE PIK3CA
GENE MUTATION.
THIS ALLOWED ME TO HAVE A MORE
TARGETED TREATMENT THAT HAS BEEN
WORKING VERY WELL FOR ME TODAY.
HOWEVER, IN ADDITION TO SEEING
THE PEDIATRIC CLINIC, I AM AN
ADULT, WHICH AS WE'VE DISCUSSED
EARLIER DOES CAUSE ISSUES.
SO THIS MEANS THAT I HAVE TO SEE
MULTIPLE SPECIALISTS ACROSS
DIFFERENT SPECIALTIES AT THE
ADULT CENTER, IN ADDITION TO
SEEING THE DOCTORS IN THE
PEDIATRIC CENTER.
WHEN I'M ON THE ADULT SIDE, MY
DOCTORS EITHER BLAME MY DISEASE
FOR ISSUES AND ARE HESS TABT TOO
DO ANYTHING OR REALLY CHANGE ANY
CARE WITHOUT GOING BACK TO THE
PEDIATRIC CENTER, OR THEY IGNORE
MY ISSUES AND LOOK AT IT JUST AS
A SYMPTOM THAT THEY ARE SEEING,
WHICH CAUSES ISSUES WHEN YOU'RE
LOOKING AT ACROSS MY WHOLE BODY
HOLISTICALLY.
THINKING THROUGH THE DIFFERENT
CHALLENGES THAT PATIENTS THAT
I'VE CONNECTED WITH FACE, WE ALL
WANT TO IMPROVE DIAGNOSIS.
THERE'S LOTS OF CASES OF
MISDIAGNOSIS AS WELL AS UNSURE
WHERE TO GO NEXT.
EXPANDED TREATMENT OPTIONS ARE
ALSO VERY IMPORTANT.
WHILE THE MEDICATION I'M ON IS
CURRENTLY HELPING, IT IS NOT
WITHOUT SIDE EFFECTS.
WHICH HAS LED TO MORE DOCTORS
AND OTHER SPECIALTIES.
THERE'S ALSO A LARGE CONCERN
ABOUT LONG-TERM IMPACTS, AND HOW
THIS MEDICATION WILL AFFECT OUR
PATIENT COMMUNITY AS WE AGE.
IN ADDITION, AS MANY OF THE
PRESENTERS HAVE DISCUSSED, THE
COST OF CARE.
BECAUSE THIS MEDICATION IS SO
EXPENSIVE, I AM CONSTANTLY
WORRIED THAT MY INSURANCE EITHER
WILL STOP COVERING IT OR THERE
WILL BE OTHER ISSUES WITH
GETTINGED MEDICATION.
THIS CAUSES ME TO WORK EXTRA
HARD AT WORK BECAUSE I AM
CONCERNED THAT I MIGHT LOSE MY
HEALTH INSURANCE.
ADDITIONALLY ACCESS TO CARE.
WHILE I'M LOCATED NEAR THAT
CLINIC, THESE OPERATE IN THE
PEDIATRIC CENTER AND THAT CAUSES
LOTS OF CONCERNS FOR THE PATIENT
COMMUNITIES.
I'VE HAD MANY PATIENT FAMILIES
COME TO ME AND SAY THAT THEY'RE
HAPPY TO HEAR MY STORY BECAUSE
IT HELPS GIVE THEM AN IDEA OF
WHAT THE FUTURE WILL BE LIKE FOR
THEM.
HOWEVER, THIS ALSO GIVES ME
ANXIETY BECAUSE THE ADULT CARE
IS NOT WHERE IT NEEDS TO BE FOR
OUR DISEASE.
GOING FORWARD, I'D REALLY HOPE
THAT WE COULD FOCUS ON IMPROVED
DIAGNOSIS, IMPROVED TREATMENT
OPTIONS THAT HAVE LESS SIDE
EFFECTS, AS WELL AS ACCESS TO
CARE FOR ALL AGES.
THANK YOU.
>> THANK YOU, LIZ, AND THANKS,
MIKE.
WE ARE GOING TO MOVE TO THE NEXT
SPEAKER, MELLENNEE FINGER.
SHE'S THE DIRECTOR OF K-T
SUPPORT GROUP, KLIPPEL-TRENAUNAY
SYNDROME.
>> THANK YOU.
AS DIRECTOR OF THE K-T SUPPORT
GROUP, WE PROVIDE CONNECTIONS,
SUPPORT, EDUCATION, AND
EMPOWERMENT FOR FAMILIES COPING
WITH COMPLEX VASCULAR LYMPHATIC
ANOMALIES.
K-T IS A CONGENITAL SYNDROME
CONDITION THAT INVOLVES
CAPILLARY, LYMPHATIC AND VENOUS
MALFORMATIONS PLUS ABNORMAL
GROWTH OF BONE AND SOFT TISSUE.
WHEN WE BEGAN IN 1986, THERE
WERE ONLY A FEW DIAGNOSES FOR
LARGE BIRTH MARKS OVERLYING
LYMPHATIC VENOUS MALFORMATIONS.
K-T WAS COMMONLY DIAGNOSED WHEN
THE SYMPTOMS INVOLVED LIMBS.
GROUP MEMBERS TALK ABOUT HOW NO
TWO CASES WERE ALIKE.
AROUND 2009, SIMILARITIES IN
SOME PATIENTS WERE IDENTIFIED
AND CLOVES WAS RECOGNIZED AS A
SEPARATE CONDITION.
IN 2015, A JOURNAL ARTICLE
APPEARED, IDENTIFYING THE GENE
AND OVER THE NEXT YEARS, A
SPECTRUM CONDITION RELATED
OVERGROWTH EMERGED.
PROS NOW INCLUDES AT LEAST 14
PHENOTYPES.
THANK YOU.
THIS DOESN'T TELL THE WHOLE
STORY ABOUT K-T.
WE HAVE LOYAL MEMBERS THAT DATE
BACK TO 1986.
A SIGNIFICANT CHALLENGE IS STILL
DISEASE DEFINITIONS AND
DIAGNOSTIC CONSENSUS AMONG
PROVIDERS.
ISSVA UPDATES CLASSIFICATIONS
EVERY FEW YEARS AS NEW
INFORMATION IS AVAILABLE.
K-T IS CONSIDERED ONE OF THE
PROS CONDITIONS BUT NOT ALL WHO
ARE DIAGNOSED WITH K-T WILL SHOW
A PIK3CA MUTATION.
SOME ARE TIE 2, OTHERS MIGHT BE
3R1, ET CETERA.
GENETIC TI TESTING AND IMAGING
TECHNOLOGY HAS ENABLED MORE
ACCURATE DIAGNOSES FOR SOME.
ADULT MEMBERS CARRYING A K-T
DIAGNOSIS ARE NOT LIKELY TO BE
REDIAGNOSED UNLESS THEY CAN FIND
A PEDIATRIC VASCULAR ANOMALIES
CLINIC THAT SEES ADULTS.
THERE ARE NO POINT OF CARE TOOLS
AVAILABLE FOR ANY OF THESE
CONDITIONS, NO NATURAL HISTORIES
EXIST.
OVER THE PAST 20 YEARS, A
NETWORK OF MULTIDISCIPLINARY
PEDIATRIC VACs FORMED AT SOME
CHILDREN'S HOSPITALS.
THESE CLINICS ARE SPARSELY
DISTRIBUTED WITH LARGE GAPS IN
MANY AREAS.
DENISE PUT UP A SLIDE EARLIER
THAT HAD THE POINTS ON THERE IN
THE UNITED STATES.
PEDIATRIC PATIENTS OFTEN TRAVEL
LONG DISTANCES TO THESE CLINICS
WHILE ADULTS HAVE VIRTUALLY NO
SPECIALIZED PROVIDERS.
A FEW OF THESE CLINICS SEE, NOT
NECESSARILY TREAT, ADULTS BUT
MOST DO NOT.
THE PATIENTS OVER 18 DO NOT HAVE
CARE FROM KNOWLEDGEABLE
PROVIDERS.
THEIR SOURCES FOR INFORMATION
ARE ADVOCACY ORGANIZATIONS AND
OTHER PATIENTS.
INFORMATION IS NOT M COMING FROM
THEIR CARE PROVIDERS.
IF EMERGENCY CARE IS NEEDED,
DISEASE KNOWLEDGE IS
OVERWHELMINGLY NOT AVAILABLE,
MAKING A TRIP TO THE E.R. A REAL
THREAT.
THE LACK OF CERTIFIED LYMPHEDEMA
THERAPISTS AND COMPRESSION
GARMENT FITTERS ARE A BIG
OBSTACLE.
MOVING TO LACK OF RESOURCES.
INADEQUATE INSURANCE AND
APPROVAL ISSUES ARE DIFFICULT.
TO
NAVIGATE.
DURABLE GOODS COVERAGE VARIES
AND IS CHALLENGING.
FOR FIRMATION OF A DIAGNOSIS
OFTEN REQUIRES GENETIC TESTING
THAT IS DIFFICULT TO ATTAIN FOR
MULTIPLE REASONS.
FINANCIAL SUPPORT IS DIFFICULT.
THE COST OF HEALTHCARE, THE
OFTEN EXCESSIVE NEED TO MISS
WORK FOR APPOINTMENTS OR
ILLNESS, EATING HEALTHY, PLUS
NORMAL LIVING COSTS CAN GET
OVERWHELMING QUICKLY.
IEP PLANS ARE NOT DESIGNED TO
SERVE OUR CHILDREN.
504 PLANS ARE RARELY OFFERED.
FAMILIES NEED TO KNOW THEIR OWN
RIGHTS AND SEEK OUT ASSISTANCE,
WHICH IS ALSO NOT READILY
AVAILABLE.
FINDING CLOTHING AND SHOES THAT
FIT ARE A CHALLENGE.
OUR WISHES.
FUNDING FOR RESEARCH IN CLINICAL
TRIALS.
THE CURRENT MEASURES USED FOR
TRIALS MAKE TRIAL DESIGN LIMITED
AND DIFFICULT.
WE NEED POINT OF CARE
PATIENT-REPORTED OUT COME
MEASURES THAT ARE MORE
ACCURATELY REFLECTIVE OF
OUTCOMES IN OUR DISEASES.
THEY NEED TO ALLOW FOR THE
HETEROGENEOUS NATURE OF THESE
SPECTRUM KI DISORDERS AND IN SOE
CASES, THE COMMONALITIES OF
PHENOTYPICAL CONDITIONS WITH
DIFFERENT ETIOLOGIES.
WE WISH FOR CENTRALIZED CARE
ACCESSIBLE BY ALL FOR COMPLEX
LYMPHATIC VASCULAR CONDITIONS.
I WI
OUR WISH NUMBER THREE, WE WISH
FOR FOCUSED EFFORT ON STUDYING
AND UNDERSTANDING PAIN FOR
ADEQUATE TREATMENT.
I WILL TURN THIS OVER TO SINEAD,
MY PATIENT REPRESENTATIVE.
THANK YOU.
>> HI, EVERYONE.
MY NAME IS SINEAD.
I WAS ORIGINALLY DIAGNOSED --
[SPEAKER ON MUTE]
>> SINEAD, YOU GOT MUTED.
YES.
>> OKAY.
SO --
>> THERE YOU GO.
THANK YOU SO MUCH.
>> OKAY.
SO HI, MY NAME IS SINEAD.
I WAS ORIGINALLY DIAGNOSED WITH
K-T AND AFTER EXPERIENCING A LOT
OF COMPLICATIONS THAT THEY
COULDN'T FIGURE OUT, I WAS
EVENTUALLY SENT TO A CENTER IN
BOSTON TO BE REDIAGNOSED.
WE DIDN'T PLAN ON THAT BUT I WAS
REDIAGNOSED WITH PAR PARKES WEBR
AND I'VE WORKED CLOSELY WITH MEL
KNEEL TO CREATE A SUBSET OF THE
K-T GROUP FOR PEOPLE WITH PARKES
WEBER SYNDROME.
SO I'VE BEEN ASKED TO SHARE
PATIENT PERSPECTIVES FROM OUR
GROUP AND WE PUT THE MAIN
QUESTIONS OUT TO OUR GROUPS
ABOUT WHAT DO THEY WANT THEIR
VOICE TO BE AND WHAT ISSUES OR
CHALLENGES THEY WANTED
HIGHLIGHTED HERE, SO ON THE
SCREEN YOU CAN SEE SOME OF THE
THINGS, AND I'M JUST GOING TO
TOUCH ON THOSE SO FOR WHEN IT
COMES TO PAIN, WE'VE HEARD A LOT
THAT SEEKING HELP FOR PAIN FROM
PAIN SPECIALISTS, ESPECIALLY FOR
COMPLEX VASCULAR ANOMALIES, THAT
CONTAIN LYMPHATIC COMPONENT CAN
BE INCREDIBLY FRUSTRATING
BECAUSE THIS TYPE OF PAIN IS NOT
WELL UNDERSTOOD AND FOR MANY IN
OUR GROUP, THEY KNOW FIRSTHAND
HOW HARD IT IS TO GET HELP FOR
THIS AND THEY KNOW OPIOIDS
AREN'T GOING TO WORK FOR THIS.
SO IT'S VERY HARD TO GET PAIN
MANAGEMENT HELP WHEN YOU FEEL
JUDGED AND, LIKE, WHEN YOU GO
FOR HELP IN AN E.R., FOR
INSTANCE, THEY JUST THINK YOU'RE
DRUG SEEKING, WHEN YOU FULLY
WELL KNOW, THIS ISN'T GOING TO
HELP, THIS IS NOT WHAT I'M
LOOKING FOR.
WE'RE NOT LOOKING FOR A QUICK
FIX, WE'RE LOOKING FOR SOMETHING
THAT'S GOING TO HELP LONG TERM
AND WE NEED BETTER
UNDERSTANDING, BETTER CARE AND A
SOLUTION THAT TRULY ADDRESSES
THE UNIQUE CHALLENGES OF CHRONIC
PAIN RESULTING FROM CHRONIC
LYMPHATIC CONDITIONS.
FREQUENT INFECTIONS, FLARE-UPS
IN CELLULITIS AND POOR QUALITY
OF LIFE WERE SOMETHING THAT WAS
VERY MUCH HIGHLIGHTED AND
FLARE-UPS, INFECTIONS AND
CONSTANT PAIN CAN TAKE A VERY
HEAVY TOLL ON THE QUALITY OF
LIFE FOR PATIENTS.
EVERY DAY FEELS LIKE A SURVIVAL
GAME FOR A LOT OF US.
OFTEN OUR LIVES ARE SHAPED BY
HOW WE WAKE UP.
THAT'S EVEN IF WE'VE BEEN ABLE
TO SLEEP THE NIGHT BEFORE.
YOU KNOW, THE MENTAL STRAIN OF
LIVING WITH SUCH UNPREDICTABLE,
RELENTLESS SYMPTOMS IS
EXHAUSTING.
I'VE HAD MOMENTS WHERE I
PERSONALLY WANTED TO GIVE UP
BECAUSE I DIDN'T WANT TO GO SEEK
HELP BECAUSE NO ONE HAD ANSWERS
FOR ME.
I'VE HAD DOCTORS TREAT
INFECTIONS INCORRECTLY, I'VE
BEEN GASLIT, AND I'VE HAD
INFECTIONS TREATED INCORRECTLY.
THAT LEAVES ME WONDERING AS WELL
AS OTHERS WONDERING FOR
THEMSELVES HOW HAS THIS IMPACTED
MY LYMPHEDEMA LONG TERM.
WHAT ELSE DID I HAVE HERE?
THE STRUGGLE THAT DOESN'T JUST
AFFECT OUR B BODIES, IT EXTENDSO
EVERY ASPECT OF OUR LIFE.
IT IMPACT OUR ABILITY TO GO TO
SCHOOL, TO KEEP T A JOB, BUILD A
CAREER.
WHO WOULD HIRE SOMEBODY WHO AT
THE DROP OF A HAT NEEDS TWO
WEEKS OFF AT A MOMENT'S NOTICE
WHEN YOU HAVE AN INFECTION?
HOW CAN A STUDENT SUCCEED WHEN
IT FEELS LIKE THE HARDEST THING
IS SIMPLY GETTING OUT OF BED IN
THE MORNING?
AN NOT JUST GETTING OUT OF BED,
DOING ANYTHING.
TAKING CARE OF YOURSELF.
MAINTAINING RELATIONSHIPS,
STAYING PRODUCTIVE, STAYING ON
TOP OF DAILY RESPONSIBILITIES
ALL BECOME AN UPHILL BATTLE.
EVERY DAY IS A REMINDER OF HOW
MUCH ENERGY IT TAKES TO SURVIVE,
NOT EVEN THRIVE.
THE THIRD ONE IS THE EFFECTS OF
LYMPHATIC BLEBS, LYMPHORRHEA,
THE CONSTANT BATTLE WITH SWOLLEN
PAINFUL LIMBS CAN LEAVE YOU
FEELING DRAINED AND SELF
CONSCIOUS.
IT CAN BECOME PAINFUL REMINDERS
OF YOUR BODY'S STRUGGLE.
TOGETHER THESE CONDITIONS CREATE
A CYCLE OF DISCOMFORT THAT TAKES
NOT ONLY A PHYSICAL TOLL BUT A
PROFOUND MENTAL ONE AS WELL
LEAVING PATIENTS FEELING LIKE
THEY'RE TRAPPED IN THEIR BODIES.
AND THE STRUGGLE WITH SELF
IMAGE, YOU AFTER THESE ALL OF TS
I'VE MENTIONED CAN DEEPLY AFFECT
BODY IMAGE.
GROWING UP, FEELING DIFFERENT IS
HARD ENOUGH, AND IMAGINE MEET ND
BEINGNEEDINGONE OR TWO CHANGES S
BECAUSE YOU START LEAKING LYMPH
FLUID.
NO ONE'S GOING TO UNDERSTAND
THAT, IT'S THANK YOU MILL GATE
YAITING AND ADD TO THAT THE
FRUSTRATION OF NOT BEING ABLE TO
WEAR THE SAME CLOTHES AS
EVERYONE ELSE.
YOU KNOW OFTEN YOUR ONLY
OPTIONS, I KNOW THIS FROM
PERSONAL EXPERIENCE, ARE THINGS
THAT MAKE YOU LOOK LIKE YOU'RE
DRESSED TO GO TO THE SENIOR
CENTER, NOT GYM CLASS IN GRADE
2, OR YOU HAVE CLOTHES THAT
MIGHT FIT YOUR ONE LIMB BUT ARE
SIX SIZES TOO BIG ON THE OTHER
SIDE.
ALSO MISSING SCHOOL BECAUSE YOUR
BODY WON'T COOPERATE CAN LEAVE
YOU FEELING LIKE YOU'RE
CONSTANTLY FALLING BEHIND, WHICH
IS NEVER A GOOD FEELING.
AND LASTLY, TRYING TO LOVE
YOURSELF WHEN YOUR BODY IS SUCH
A SOURCE OF PAIN AND STRUGGLE IS
AN OVERWHELMING CHALLENGE.
I KNOW THIS PERSONALLY.
IT'S HARD TO FEEL CONFIDENT
EVERY DAY WHEN YOU'RE IN A
BATTLE WITH YOUR OWN BODY.
THESE CONSTANT HURDLES,
PHYSICAL, MENTAL AND
EMOTIONALLY, DON'T JUST IMPACT
HOW WE SEE OURSELVES, BUT THEY
CAN RESHAPE OUR ENTIRE SENSE OF
SELF-WORTH AND I THINK AT THE
END OF THE DAY, WE DESERVE
UNDERSTANDING, COMPASSION, THE
FREEDOM TO FEEL COMFORTABLE IN
OUR OWN SKIN AND PROPER CARE,
WHETHER THAT'S LYMPHEDEMA
THERAPISTS, DOCTORS, EMERGENCY
TREATMENT, WE NEED BETTER
UNDERSTANDING AT THE END OF THE
DAY.
THANK YOU.
>> THANK YOU VERY MUCH,
MELLENNEE AND SINEAD, FOR THIS
POWERFUL PRESENTATION.
WE ARE MOVING TO THE NEXT
SPEAKER, DR. ANEEM ANIL HINGORD
HE WILL BE PRESENTING NEXT.
>> I WANT TO THANK THE
ORGANIZERS FOR PUTTING THIS
EXCELLENT SYMPOSIUM -- INVITING
ME.
I ALSO WANT TO THANK ALL OF THE
SPEAKERS BECAUSE THEY'VE DONE AN
EXCELLENT JOB AND A LOT OF MY
WORK HAS ALREADY BEEN STATED.
I DO HAVE A CONFLICT OF
INTEREST.
I DO SIT ON THE SCIENTIFIC
ADVISORY BOARD FOR ADVANCED
OXYGEN THERAPY INCORPORATED.
SO WHAT IS THE AMERICAN VENOUS
FORUM?
IT'S DESIGNED -- IT'S AN
ORGANIZATION, IT AN
INTERNATIONAL ORGANIZATION
THAT'S BEEN AROUND FOR OVER 20
YEARS, BUT IT HELPS PROMOTE
VENOUS AND LYMPHATIC HEALTH
OVERALL.
ITS MISSION IS TO ADVANCE THE
SCIENCE, EDUCATION, ADVOCACY IN
VENOUS AND LYMPHATIC DISEASES,
WHICH WE'RE ALL TALKING ABOUT
TODAY.
I LIVE HERE IN SOUTH BROOKLYN,
PRACTICING HERE SINCE 1998, AND
OVER THE LAST 20-ODD YEARS,
WE'VE HAD AN INCREASING NUMBER
OF PATIENTS WHO WERE REFERRED TO
US WITH LYMPHEDEMA.
OFTEN AS THE OTHER SPEAKERS HAVE
SAID, THEY'VE BEEN TO MULTIPLE
PRACTITIONERS OVER MULTIPLE
YEARS, AND VERY OFTEN WE JUST
COME INTO THE ROOM AND LOOK AT
THEM AND SAY WE HAVE YOUR
DIAGNOSIS JUST BY EXAM.
UNFORTUNATELY, WE DON'T HAVE A
LOT OF GOOD DIAGNOSTIC TOOLS OR
TREATMENT OPTIONS, AND THE
REALITY IS OVER THE LAST 20
YEARS, THE RATE OF IMPROVEMENT
IN TERMS OF DIAGNOSTIC TOOLS OR
EVEN THERAPEUTIC TOOLS HAS BEEN
VERY SLOW AND I WOULD ACTUALLY
DESCRIBE IT AS GLACIAL.
WHICH HELPS UNDERLYING THE
REASONS WHY WE'RE ALL HERE
TODAY, AND ONE OF THE WISH LISTS
THAT WE WOULD LIKE TO TALK ABOUT
IS OF COURSE WE ALL TALK ABOUT
MORE RESEARCH BECAUSE I THINK
THAT WOULD BE THE WAY FORWARD TO
HELP IMPROVE DIAGNOSIS AND
TREATMENT, THAT ALSO -- WE ALSO
HAVE A PROBLEM WITH EDUCATION,
NOT ONLY OF PRACTITIONERS AS THE
OTHER SPEAKERS HAVE POINTED OUT
BUT ALSO PATIENTS OFTEN COME IN
SAYING I THINK I MIGHT HAVE THIS
BUT I DON'T REALLY KNOW, I'VE
DONE SOME RESEARCH ONLINE, I'M
NOT REALLY CERTAIN, COULD IT BE
THIS OR THIS.
BUT PATIENT EDUCATION WAS ALSO A
PROBLEM.
WE'RE REALLY NOT GETTING THE
WORD OUT, AND ONE THING I'VE
ALSO NOTICED IS THAT EACH ONE OF
US IN OUR ORGANIZATIONS HAVE
SOME REALLY GREAT TOOLS AND HAVE
DONE SOME REALLY GREAT WORK OVER
THE LAST COUPLE YEARS, BUT WE'RE
NOT WORKING TOGETHER, AND I
THINK THIS PLATFORM BRINGING ALL
OF US TOGETHER OFFERS US
OPPORTUNITIES TO REALLY HELP
OVERCOME SOME OF THE BARRIERS
THAT WE ALL HAVE TO POOL OUR
RESOURCES, POOL OUR IDEAS AND
POOL THE WAY -- HOPEFULLY THE
WAY FORWARD.
SO THE REASON WHY WE'RE SEEING
SO MUCH LYMPHEDEMA AT LEAST IN
OUR PATIENT POPULATION IS OUR
AGING POPULATION.
THIS IS A PROBLEM WORLDWIDE.
WORLDWIDE WE'RE GETTING OLDER
AND WE'RE GETTING MORE OBESE.
WE'RE ALSO SEEING MUCH MORE
LYMPHOVENOSTASIS DISEASE WHICH
ALSO CAN BE CONTRIBUTED TO THE
AGING POPULATION AND OBESITY.
SO WE ALSO SAID THAT OFTEN
PATIENTS ARE REFERRED AFTER
SEEING MULTIPLE PRACTITIONERS,
WE ALSO HAVE LIMITED RESOURCES
FOR DIAGNOSIS AND TREATMENT.
IT'S NOT ONLY THE LOCAL LEVEL
BUT IT'S AT THE NATIONAL LEVEL,
AND THESE TYPES OF PROBLEMS NEED
TO BE ADDRESSED ACROSS THE
NATION, AND I WOULD EVEN SAY
THAT INTERNATIONAL COOPERATION
IS EVEN MORE IMPORTANT, BECAUSE
I DO FEEL THAT OTHER COUNTRIES
ARE SEEING THESE TYPES OF
PROBLEMS ALSO.
LIKE GOING TO MEETINGS AND
FINDING OUT MORE AND MORE PEOPLE
INTERESTED IN RESEARCH, BETTER
DIAGNOSIS, WE ARE GETTING BETTER
DIAGNOSTIC TOOLS BUT I STILL
WOULD SAY THEY ARE AT BEST
RUDIMENTARY.
SOME OF THE LIMITED RESEARCH, I
DO THINK WE NEED BETTER TOOLS
FOR DEFINITION.
WE HAVE SOME TOOLS THAT HAVE
DEVELOPED OVER THE LAST COUPLE
OF YEARS FOR DIAGNOSIS.
WE HAVE SOME TREATMENTS WHICH
ARE BETTER THAN THEY WERE 20
YEARS AGO BUT I WOULD SAY THE
REASON WHY WE'RE NOT GETTING
BETTER DIAGNOSIS AND TREATMENT
IS WE DON'T UNDERSTAND THE
DISEASE PROCESSES.
ONE OF THE AREAS OF FOCUS FOR
THE AMERICAN VENOUS FORUM IS
USING NEWER TOOLS FOR DIAGNOSIS,
NEWER TOOLS FOR BASIC SCIENCE.
WHY DO PATIENTS GET THE
SWELLING, WHY DO THEY GET
CHANGES IN LYMPHEDEMA, FOR
EXAMPLE LOOKING AT THE
GLYCOCALYX OF THE LYMPHATIC
SYSTEM IS SOMETHING WE'VE BEEN
INTERESTED IN RECENTLY, AND
BETTER TREATMENT OPTIONS.
ADVOCACY IS KEY.
I THINK THAT'S ONE OF THE MAIN
REASONS WHY WE'VE MADE SOME
IMPROVEMENTS IN SOME OF THE
TECHNOLOGY WE HAVE AVAILABLE TO
OUR LYMPHEDEMA PATIENTS.
WE DO NEED TO HAVE MORE
COLLABORATIVE EFFORTS.
WE DID MENTION EARLIER ABOUT
LACK OF PUBLIC AWARENESS AND
LACK OF AWARENESS AMONG
PRACTITIONERS.
I THINK THIS IS THE NEXT TALK
BUT I ACTUALLY HAVE A PERSON
WITH US WHO HAS RECENTLY COME TO
OUR OFFICE WITH HER SON WHO WAS
DIAGNOSED WITH LYMPHEDEMA AFTER
MANY YEARS.
MRS. MENDEZ, WOULD YOU ABLE TO
TALK ABOUT YOUR EXPERIENCE WITH
YOUR DIAGNOSIS WITH LYMPHEDEMA
AND YOUR SON'S DIAGNOSIS?
I THINK YOU HAVE A UNIQUE
EXPERIENCE.
>> MS. MENDEZ, IF YOU CAN TURN
THE AUDIO ON, YOU CAN UNMUTE
YOURSELF.
OR OUR TECHNICAL STAFF CAN HELP
YOU UNMUTE?
ALL RIGHT.
THANK YOU.
ALSO IF YOU CAN UNMUTE YOURSELF,
MARY?
>> MY NAME IS MARY MENDEZ.
I HAVE A SON NAMED AARON YOU GO
GUERERRO.
HE HAS AUTISM AND ALSO HAS BEEN
DIAGNOSED FOR LYMPHEDEMA.
I ALSO WAS DIAGNOSED IN LIKE
'22, 2022, WITH LYMPHEDEMA ALSO.
HE HAS HYPERTENSION, I HAVE
HYPERTENSION.
BASICALLY THIS DISEASE, IT'S
DIFFICULT BECAUSE, YOU KNOW,
SWELLING OF THE LEGS, YOU KNOW,
IT AFFECTS YOUR WALKING ABILITY,
LIKE I KNOW IT AFFECTS ME WHEN I
WALK, BUT I ALSO HAVE THE
DIABETES, I ALSO HAVE DIABETES.
HE HAS DIABETES.
WELL, HE WASN'T DIAGNOSED WITH
DIABETES, BUT THEY'RE GIVING HIM
THE METFORMIN AT THE RESIDENCE
THAT HE'S AT.
SO IT JUST -- YOU KNOW, I HAVE
EDEMA.
SO I HAVE A LOT OF EDEMA, I HAVE
TO TAKE WATER PILLS.
TWO WATER PILLS.
AND IF I DON'T TAKE THE WATER
PILL, I GET ALL -- YOU KNOW,
FILLED WITH FLUID, SO I KNOW
HE'S NOT ON A WATER PILL.
SO I DON'T KNOW IF ANYBODY WANTS
TO ASK ME ANYTHING?
>> MS. MENDEZ, CAN YOU JUST
DESCRIBE YOUR EXPERIENCE WITH
EITHER YOU OR YOUR SON, HOW YOU
WERE DIAGNOSED IN AS MUCH
THAT -- IT SOUNDED LIKE IT TOOK
A FEW YEARS THAT YOU HAD YOUR
SYMPTOMS BEFORE YOUR DIAGNOSIS
AND YOUR SON.
ALSO, LIKE HE HAD
HIS SWELLING FOR QUITE A WHILE
BEFORE HE WAS --
>> YES, YOU KNOW, WHAT HAPPENED
WAS THAT I ALWAYS HAD THE EDEMA.
I HAD EDEMA FOR A LONG TIME, SO
YOU KNOW, I DIDN'T THINK -- ALL
OF A SUDDEN MY LEGS STARTED
GETTING REALLY SWOLLEN, YOU
KNOW?
SO YOU KNOW, IT'S JUST -- I HAVE
NEUROPATHY ALSO, SO THAT I GOT
THIS -- YOU KNOW, PAIN IN MY
LEGS.
PAIN WHEN I'M WALKING.
I'VE HAD FALLS, LIKE IT'S REALLY
WEIRD, BUT ALL OF A SUDDEN, YOU
KNOW, THIS IS GOING BACK A FEW
YEARS, I WOULD FALL.
I WOULD ALWAYS TRIP OVER CRACKS
IN THE SIDEWALKS.
AND I MEAN, I WOULD FALL.
I ACTUALLY HAD A FALL 2 1/2
WEEKS AGO, WHEN I FELL IN --
FIRST I FELL LIKE ON THE FRIDAY
GOING TO CATCH THE BUS, BUT IT
WAS MY CARRIAGE'S FAULT BECAUSE
IT HOOKED UP TO SOMETHING, AND
THEN THE NEXT DAY, I WAS GOING
IN TO BROOKLYN AND I HAD A FALL
IN WENDY'S, IN THE BATHROOM.
SO IT'S JUST -- YOU KNOW,
DIFFICULT, IT BEEN DIFFICULT.
MY SON, WHEN HE GOT THIS
LYMPHADEMA AND LEAKY VEINS, WHAT
HAPPENED WAS THAT NOBODY KNEW
ABOUT IT.
HE WAS IN A RESIDENCE, HE CAME
TO SEE ME -- I BRING HIM EVERY
OTHER WEEKEND TO MY HOUSE, SO HE
PUT ON HIS PAJAMAS, YOU KNOW, HE
DOES HIS OWN ROUTINE.
I DIDN'T KNOW HIS LEGS WERE
SWOLLEN LIKE THAT.
BECAUSE HE GOES, TAKES A BATH,
PUTS ON HIS PAJAMAS, THEN HE
DRESSES AND NOBODY HAS SEEN HIS
LEGS.
WHEN HE GOT BACK TO THE
RESIDENCE AND THEY -- THEY
NOTICED THAT HIS LEGS WERE ALL
SWOLLEN.
HE HAD THE CELLULITIS.
SO --
>> MS. MENDEZ, THANK YOU.
>> YEAH.
>> I DO THINK WE HAVE TO MOVE
ON.
THANK YOU, MRS. MENDEZ, YOUR
CONTRIBUTION AND THOSE OF THE
OTHER PATIENT REPRESENTATIVES
ARE VERY HELPFUL.
THEY REALLY HELP BRIDGE THE GAP
BETWEEN WHAT'S ACTUALLY
HAPPENING WITH THE PATIENTS, THE
CLINICIANS, AND THOSE WHO CAN
HELP US.
THANK YOU.
>> THANK YOU VERY MUCH.
THANK YOU.
NEXT WE ARE GOING TO HEAR FROM
DR. LINDSAY HOY.
SHE'S THE CHIEF MISSION OFFICER
AND VICE CHAIR OF THE
LYMPHANGIOLEIOMYOMATOSIS
FOUNDATION AND ALSO DR. FRANCIS
MCCORMACK, EMERITUS, SCIENTIFIC
DIRECTOR OF THE SAME FOUNDATION.
>> GREAT.
THANK YOU, SELEN.
I'LL BE SPEAKING WITHOUT SLIDES
FOR THE FIRST FEW MINUTES.
GOOD MORNING, EVERYONE.
MY NAME IS DR. LINDSAY HOY, AND
I'M THE CHIEF MISSION OFFICER AT
THE LAM FOUNDATION AND A LAM
PATIENT MYSELF.
FOR NEARLY 30 YEARS, WE'VE
DEDICATED OURSELVES TO
TRANSFORMING THE LIVES OF WOMEN
WITH LYMPHANGIOLEIOMYOMATOSIS OR
LAM, A RARE PROGRESSIVE DISEASE
THAT PRIMARILY IMPACTS WOMEN IN
THEIR CHILD BEARING YEARS.
LA MSM IS OFTEN MISDIAGNOSED,
AND ITS PULMONARY, RENAL AND
LYMPHATIC CHALLENGES CAN
SEVERELY IMPACT QUALITY OF LIFE.
TODAY I WANT TO SHARE TWO
STORIES.
IN KRISTEN'S WORDS, HER JOURNEY
BEGAN IN AUGUST OF 2021, WHEN
SHE WENT TO THE EMERGENCY ROOM
WITH HE IS VEER SHO SEVERE SHOR.
SHE WAS DIAGNOSED WITH LAM.
FROM THERE, KRISTEN FACED NINE
AGONIZING MONTHS OF
HOSPITALIZATIONS, INVASIVE
PROCEDURES, AND RELENTLESS FLUID
BUILDUP.
DURING HER FIRST HOSPITALIZATION
ALONE, SHE UNDERWENT A THORACIC
BIOPSY, THORACIC DUCT STAPLING
AND TWO PLEUR DESEES, NONE OF
WHICH CONTROLLED THE EFFUSION.
SHE LATER LEARNED THESE
INTERVENTIONS MAY HAVE DONE MORE
HARM THAN GOOD.
OVER THE ENSUING MONTHS, KRISTEN
ENDURED MULTIPLE MORE E.D.
VISITS, CHEST TUBES, SEMI
PERMANENT DRAINS, SHE LOST
NEARLY 40 POUNDS, RELIED ON 24/D
FELT AS SHE PUT IT LIKE SHE WAS
DYING.
FINALLY, THROUGH ANOTHER LAM
PATIENT, KRISTEN WAS REFERRED TO
DR. MAX ITKIN AT PENN WHO
PERFORMED MRI GUIDED MAPPING TO
LOCATE HER LYMPHATIC LEAKS AND
DURING A MONTH LONG
HOSPITALIZATION COMPLETED TWO
PROCEDURES TO SEAL THEM.
THIS TRULY MARKED A TRUE TURNING
POINT IN HER CARE.
BY THE TIME SHE RETURNED HOME,
SHE NO LONGER NEEDED DRAINS OR
SUPPLEMENTAL NUTRITION.
KRISTEN IS NOW THANKFULLY STABLE
BUT OFTEN REFLECTS ON HOW
DIFFERENT HER JOURNEY COULD HAVE
BEEN IF SHE HAD BEEN REFERRED TO
A CENTER WITH LYMPHATIC
EXPERTISE SOONER.
IN CONTRAST, MY OWN LA.
SM JOURNEY BEGAN AS A SECOND
YEAR ANESTHESIOLOGY RESIDENT AT
PENN, THE VERY INSTITUTION WHERE
KRISTIN EVENTUALLY RECEIVED THE
CARE THAT SAVE HER LIFE.
I NOTICED A SLOSHING SENSATION
IN MY CHEST AT NIGHT.
MY PARTNER AUSCULTATED MY CHEST
AND NOTED ABSENT BREAST SOUNDS
ON THE RIGHT SIDE SO WE GOT A
CHEST X-RAY THE NEXT DAY WHICH
REVEALED COMPLETE OPACIFICATION
OF MY RIGHT LUNG AND A AUTHOR
CENTESIS DRAINED A LITER OF
KYLE.
A FOLLOW UP CHEST CT CONFIRMED
MULTIPLE PULMONARY CYSTIC
LESIONS BILATERAL RAY L I
FORTUNATELY HAD IMMEDIATE ACCESS
TO A MULTIDISCIPLINARY TEAM AT
PENN EXPERIENCE IN LAM'S
COMPLEXITIES INCLUDING
MANIFESTATIONS LIKE MINE SO I
UNDERWENT A FEW MORE AUTHOR 16
TEE SEES FOLLOWED BY PLACEMENT
OF A PLEUR AXE WHICH ALLOWED ME
TO MANAGE THE RECURRENT
EFFUSIONS WHILE CONTINUING MY
CLINICAL DUTIES IN THE OPERATING
ROOM.
A CHALLENGING TASK WITH A SEMI
PERMANENT CATHETER IN PLACE.
STARTING -- IS REALLY WHAT
STABILIZED MY SYSTEMS IN ABOUT A
MONTH SPARING ME FROM MORE
INVASIVE INTERVENTIONS.
I'VE COME TO UNDERSTAND THE DUAL
ROLE OF LYMPHATIC COMPLICATIONS
LIKE CHYLOUS EFFUSIONS IN LAM.
THEY ARE DIAGNOSTIC
OPPORTUNITIES.
WHILE IT AFFECTS ONLY ABOUT 20%
OF PATIENTS SERVE AS A CRITICAL
CLUE TO IDENTIFYING THE DISEASE
EARLY.
THIS IS ESPECIALLY IMPORTANT
GIVEN THE LYMPHATIC INVOLVEMENT
IN LAM, WHICH CAN RANGE FROM
CHYLOUS EFFUSIONS AND -- TO
ASCITES.
THESE STEM FROM THE
PROLIFERATION OF NEOPLASTIC LAM
CELLS THAT OBSTRUCT LYMPHATIC
VESSELS LEADING TO FLUID
ACCUMULATION.
ELEVATED LEVELS OF VEGFD
CORRELATE WITH LYMPHATIC
INVOLVEMENT IN LAM AND CAN AID
IN DIAGNOSIS.
FOR ME, TIMELY RECOGNITION OF MY
SYMPTOMS AND ACCESS TO
EXPERIENCED SPECIALISTS ALLOWED
FOR A STREAMLINED TREATMENT
COURSE, HOWEVER, KRISTEN'S
EXPERIENCE DEMONSTRATES HOW
DELAYS IN ACCESSING SPECIALIZED
CARE CAN LEAD TO PROLONGED
SUFFERING, INVASIVE PROCEDURES,
AND UNNECESSARY COMPLICATIONS.
IN BOTH KRISTEN'S CASE AND MINE,
CHYLOUS EFFUSIONS HASTENED OUR
DIAGNOSIS YET OUR CARE PATHS
DIVERGED DRASTICALLY.
KRISTEN ENDURED MONTHS OF
INVASIVE PROCEDURES AND
SIGNIFICANT PHYSICAL AND
EMOTIONAL DISTRESS BEFORE
ACCESSING SPECIALIZED CARE.
IN CONTRAST, I BENEFITED
IMMEDIATE ACCESS TO EXPERTS,
WHICH ALLOWED ME TO AVOID
UNNECESSARY AND ACHIEVE
STABILITY QUICKLY.
THESE CONTRASTING EXPERIENCES
UNDERSCORE THE PROFOUND IMPACT
THAT TIMELY EXPERT INTERVENTION
CAN HAVE ON OUTCOMES AND RARE
DISEASES LIKE LAM.
RECOGNIZING LYMPHATIC SYMPTOMS
AS POTENTIAL EARLY INDICATORS OF
LAM AND PROMPTLY REFERRING
PATIENTS TO CENTERS OF
EXCELLENCE CAN MAKE ALL THE
DIFFERENCE.
OUR STORIES HIGHLIGHT THE
CRITICAL NEED FOR HEALTHCARE
PROVIDERS TO UNDERSTAND AND
ADDRESS THE LYMPHATIC
COMPLEXITIES OF LAM.
FOR PATIENTS LIKE KRISTEN AND
ME, SPECIALIZED CARE ISN'T JUST
BENEFICIAL.
IT'S LIFE SAVING.
YOU'RE ON A PERSONAL NOTE, IT IS
MY HONOR TO INTRODUCE DRG FRANK
MCCORMACK, NOT ONLY AN EXPERT IN
LAM BUT ALSO ONE OF THE
PHYSICIANS WHOSE CARE AND
EXPERTISE HAS SAVED MY LIFE.
DR. MCCORMACK WILL SHARE HIS
INSIGHTS AND DISCUSS THE
ADVANCEMENTS NEEDED TO IMPROVE
OUTCOMES FOR PATIENTS LIKE US.
THANK YOU.
>> WELL, THANK YOU, LINDSAY, FOR
SHARING KRISTEN AND YOUR STORIES
AND YOUR VERY DIFFERENT
EXPERIENCES WITH LYMPHATIC
COMPLICATIONS OF LAM.
AND TO THE NCLD FOR THE
OPPORTUNITY TO SPEAK ABOUT
LYMPHATIC DISEASES THAT INVOLVE
THE LUNG.
I'M A PULMONARY PHYSICIAN AT THE
UNIVERSITY OF CINCINNATI, I'VE
SPENT A LARGE PART OF MY CAREER
WORKING ON TREATMENTS FOR
PATIENTS WITH LAM WHICH IS A
PROGRESSIVE CYSTIC LUNG DISEASE
THAT RESULTS IN CHRONIC
RESPIRATORY FAILURE.
I SERVED AS THE FOUNDING
SCIENTIFIC DIRECTOR OF THE LAM
FOUNDATION FOR 25 YEARS AND I
WAS PRINCIPAL INVESTIGATOR ON
THE CLINICAL TRIAL THAT I
IDENTIFIED SIROLIMUS AS A SAFE
AND EFFECTIVE AND NOW
FDA-APPROVED THERAPY FOR LAM.
IN THE LAST 30 YEARS THE LAM
FOUNDATION HAS RAISED OVER
$35 MILLION AND HAS DEVOTED 60%
OF ITS EARNINGS TO PEER REVIEWED
RESEARCH INCLUDING THE STUT DIS
THAT PROVIDED THE BASIS FOR THAT
PIVOTAL TRIAL.
DURING MY TENURE AS SCIENTIFIC
DIRECTOR, WE ESTABLISHED AN
INTERNATIONAL NETWORK OF LAM
FOUNDATION CLENGS THAT FOCUSES
REFERRALS AND POPULATION CENTERS
TO EXPERTS AT REGIONAL ACADEMIC
MEDICAL CENTERS.
OVER TIME, MANY PATIENTS WITH
LYMPHATIC LUNG DISEASE THAT
MIMIC LAM HAVE BEEN REFERRED TO
OUR LAM CLINIC NETWORK, AND LAM
PHYSICIANS HAVE BECOME
INTERESTED AND EXPERIENCED THIS
THOSE DISEASES AS WELL.
WE HAD NCATS AND NIH FUNDING FOR
A DECADE TO DEVELOP THE RARE
LUNG DISEASE CONSORTIUM TO
EXTEND THE SCOPE OF LAM CLINICS
TO INCLUDE OTHER UNCOMMON LUNG
DISEASES, INCLUDING LYMPHATIC
LUNG DISEASES, ON SLIDE 2,
ACTUALLY.
SO THIS IS THE RARE LUNG
DISEASE/LAM CLINIC NETWORK THAT
I WAS DESCRIBING.
IN SLIDE 3, AS WITH MANY OTHER
LYMPHATIC DISEASES, LAM
OBSTRUCTS AND DISTORTS
LYMPHATICS AND CAUSES CHYLOUS
EFFUSIONS.
AS A RESULT THERE ARE NOW MANY
PHYSICIANS IN THE LAM CLINIC
NETWORK, INCLUDING GENERALIZED
LYMPHATIC ANOMALY, CENTRAL
CONDUCTING LYMPHATIC ANOMALY TO
NAME A FEW.
CALLING US EXPERTS MAY BE A
STRETCH BUT WE'RE SCIENTIFICALLY
CURIOUS AND VERY WILLING TO
LEARN.
WE SHARE CASES AND LEARN
INTEREST EACH OTHER.
WE ENGAGE THE PEDIATRIC
LYMPHATIC DISEASE COMMUNITY
WHICH SEES THESE PATIENTS IN
MUCH GREATER NUMBERS AND IS MUCH
MORE ADVANCED IN TERMS OF
RESEARCH.
MANY OF US REACH OUT TO DENISE
ADAMS AT CHOP OR ADRIENNE HAMMIL
AT CINCINNATI FOR MANY OF THE
COMPLICATED PULMONARY LYMPHATIC
CASES THAT ARE REFERRED TO OUR
CLINICS.
MANY HAVE BEEN FOUND TO BE
CAUSED BY SINGLE GENE MUTATIONS
AND IN FACT TARGETED THERAPIES
HAVE BECOME AVAILABLE, MAKING
IDENTIFICATION AND CORRECT
DIAGNOSIS IMPERATIVE.
THE STARKLY DIFFERING OUTCOMES
FOR LINDSAY AND KRISTEN PROVIDE
A PERFECT ILLUSTRATION OF THE
IMPORTANCE OF EARLY
IDENTIFICATION AND TREATMENT FOR
LYMPHATIC LUNG DISEASE.
LINDSAY RECEIVED HER DIAGNOSIS
OF LAM EARLY AND RECEIVED
SIROLIMUS WHICH COMPLETELY
ELIMINATED THE FLUID COLLECTION
IN HER CHEST CAVITY OVER A FEW
MONTHS WITHOUT INVASIVE
INTERVENTIONS.
KRISTEN ON THE OTHER HAND
RECEIVED A DELAYED DIAGNOSIS OF
LAM AND UNDERWENT UNNECESSARY
AND ILL ADVISED SURGICAL
PROCEDURES THAT LED TO
INTRACTABLE CHYLOUS EFFUSIONS,
RESULTING IN THE NEED FOR
FREQUENT DRAINAGE, MULTIPLE
ADDITIONAL INTERVENTIONS,
NUTRITIONAL DEFICIENCY AND
WEIGHT LOSS.
HOW COULD THE FAILURE OF
KRISTEN'S DOCTORS TO CORRECTLY
DIAGNOSE HER OR REFER HER TO A
SPECIALIZED CENTER OVERCOME IN
THE LONG TERM?
THERE ARE MORE THAN 7,000 RARE
DISORDERS AND AT LEAST 10 TO 15%
OF THOSE INVOLVE THE LUNG.
IT'S UNREALISTIC TO THINK THAT
MEDICAL SCHOOL CURRICULA COULD
EVER INCLUDE ALL OF THEM OR EVEN
PULMONARY PHYSICIANS CAN BE WELL
INFORMED ABOUT MORE THAN A FRACK
SLUN OF THEM.
PERHAPS INSTILLING THE HUMILITY
TO REFER AND TO TRAINING A
FUTURE OF PHYSICIANS WOULD BE A
MUCH BETTER STRATEGY IN MUCH THE
SAME WAY AS HUMANISM, ETHICS AND
PROFESSIONALISM HAVE BECOME AN
INTEGRAL PART OF MEDICAL SCHOOL.
WHEN PATIENTS ARE CONFRONTED
WITH A RARE DISORDER THAT IS NOT
GETTING DUE ATTENTION FROM THEIR
CAREGIVERS, THEY OFTEN BECOME
THEIR OWN BEST ADVOCATES AS
WE'VE HEARD ON THIS CALL,
INCREASINGLY THEY'RE TURNING TO
ONLINE RESOURCES LIKE WIKIPEDIA,
MEDSCAPE AND WEBMD, AND WE IN
THE MEDICAL COMMUNITY MUST
REMAIN ENGAGED TO MAKE SURE
ACCURATE INTERVENTION IS
PROVIDED.
THE RARE LUNG DISEASE LAM CLINIC
NETWORK.
WE SPEND CONSIDERABLE TIME
EDITING WIKIPEDIA, PROVIDING
EVIDENCE HAD BEEN BASED BASE - S
CHATGPT OR VERSIONS ADAPTED TO
MEDICAL QUESTIONS EVEN TODAY
WHEN THE CHATGPT IS ASKED WHAT
IS THE DIAGNOSIS FOR A
30-YEAR-OLD WOMAN WITH CHYLOUS
EFFUSION, DILATED ABDOMINAL
LYMPHATICS,
LYMPHANGIOLEIOMYOMATOSIS IS THE
FIRST DIAGNOSIS TO APPEAR.
AS AI CONTINUES TO MATURE AND
EVOLVE AND ACCESS TO INFORMATION
IMPROVES PERHAPS PATIENTS WITH
LYMPHATIC DISEASE CAN BE SPARED
THE KIND OF SUFFERING THAT
KRISTEN AND OTHERS ON THIS CALL
HAVE ENDURED.
SO MY SIMPLE MESSAGE ON THE NEXT
SLIDE IS THAT THE RARE LUNG
DISEASE LAM CLINIC NETWORK CAN
BE A RESOURCE FOR PATIENTS WITH
LYMPHATIC DISORDERS THAT
INVOLVES THE LUNGS.
LYMPHATIC BIOLOGY REPRESENTS AN
EMERGING FRONTIER IN MEDICINE
THAT'S POISED FOR GREAT ADVANCES
AND INTEREST IN LYMPHATIC
DISORDERS IS GOING TO FOLLOW
PROGRESS.
I HAVE THREE WISHES.
WE NEED CENTERS OF EXCELLENCE
FOR ADULTS WITH LYMPHATIC
DISEASE.
WE HAVE TWO OR THREE SUCH
CENTERS FOR PEDIATRIC DISEASE
THAT FOCUS ON A ARTERIAL, VENOUS
AND VASCULAR ANOMALIES IN
BOSTON, PHILADELPHIA AND
CINCINNATI, BUT NO ADULT
CENTERS.
INVESTING IN EXTENDING THE SCOPE
OF THOSE CENTERS TO INCLUDE
ADULTS WOULD BE AN EXCELLENT
INITIAL STRATEGY, BUT ULTIMATELY
THE GOAL HAS TO BE TO DISTRIBUTE
EXPERTISE AND THE RARE LUNG
DISEASE NETWORK IS AVAILABLE AS
A PLATFORM FOR THAT PURPOSE.
WE NEED TO DISTRIBUTE EXPERTISE
IN LYMPHATIC IMAGING ACROSS THE
UNITED STATES.
THE UNIVERSITY OF PENNSYLVANIA
HAS LED THE WAY BUT ACCESSORY
MAINS AN ISSUE, AND WE NEED MORE
CENTERS TO OFFER LYMPHATIC
MAPPING AND INTERVENTION
SERVICES, INCLUDING DYNAMIC
CONTRAST ENHANCED PLEE,
INTRANODELL -- AND CATHETER
BASED THORACIC DUCT
EMBOLIZATION.
FINALLY WE NEED SUPPORT FOR
RESEARCH INTO THE MOLECULAR AND
GENETIC BASIS FOR THE DIAGNOSIS,
MANAGEMENT AND TREATMENT OF
LYMPHATIC DISORDERS IN ADULTS
AND CHILDREN.
WE HAVE SEVERAL CLINICAL USEFUL
BIOMARKERS FOR THE DIAGNOSIS OF
LYMPHATIC LUNG DISEASE INCLUDING
VEGFD FOR LAMB AND -- OFFERED BY
BOUTIQUE LABS AND REMAIN
DIFFICULT TO ACCESS.
ASSISTANCE WITH MAKING THESE
BIOMARKERS MORE WIDELY AVAILABLE
COULD BE LOW HANGING FRUIT FOR
THE NCLD GROUP.
THANK YOU VERY MUCH FOR YOUR
ATTENTION AND FOR GIVING ME AN
OPPORTUNITY TO SPEAK TODAY.
>> THANK YOU.
THANK YOU BOTH, AND WE WILL MOVE
ON TO THE NEXT SPEAKER.
IT IS GOING TO BE DR. LEO
SCHULTZE-KOOLAND.
HE'S THE PRESIDENT OF
INTERNATIONAL SOCIETY FOR THE
STUDY OF VASCULAR ANOMALIES.
ISSVA.
LEO?
>> THANK YOU VERY MUCH FOR THE
INTRODUCTION.
IT'S A REAL PLEASURE BEING PART
OF THIS FORUM.
I'M REPRESENTING BASICALLY
ISSVAS BUT ALSO VASCA, THE
REFERENCE NETWORK FOR VEAS
COLVASCULARDISEASES.
YOU ALL KNOW ISSVA, THE
INTERNATIONAL SOCIETY FOR THE
STUDY OF VASCULAR ANOMALIES IS A
WORLDWIDE MULTIDISCIPLINARY
ORGANIZATION.
AT THE MOMENT IT'S GOING THROUGH
A PHASE OF FAST GROWTH.
WHICH IS REALLY ENCOURAGING,
ALSO WITH THE PROBLEM OF HOW TO
MAINTAIN THE SPECIAL ATMOSPHERE
WITHIN ISSVA, WHERE EXCHANGE OF
KNOWLEDGE AND MERNL CONTACTS ARE
REALLY ESSENTIAL FOR FURTHER
COLLABORATION BETWEEN THE LARGE
CENTERS IN EUROPE AND THE UNITED
STATES.
AT THE MOMENT WE'RE IMPLEMENTING
A NEW STRUCTURE BECAUSE WE HAVE
THE FEELING THAT PATIENT
ORGANIZATIONS SHOULD ALSO BE
PART OF ISSVA, AND WE ARE
FOCUSING ON EDUCATION, SUPPORT,
SUPPORT OF NEW CENTERS, SETTING
UP MORE SAI MAJJI AC
SETTING UP MORE SOCIAL MEDIA
ACCOUNTS AND SO FORTH.
NOW ON THE EUROPEAN SIDE, THE
EUROPEAN COMMITTEE REALIZED A
LONG TIME AGO THAT THERE ARE
ABOUT 6,000 RARE DISEASES
AFFECTING AT LEAST ABOUT
30 MILLION EUROPEANS.
AND IT'S VERY DIFFICULT FOR THEM
TO HAVE ACCESS TO THE EXPERTISE.
THERE'S ALSO FRAGMENTED
KNOWLEDGE OF RARE DISEASES AND
THE SMALL NUMBERS BASICALLY OF
PATIENT MEANS THAT RESEARCH IS
QUITE DIFFICULT TO PERFORM.
SO THAT'S BASICALLY WHY WE'VE
SET UP THE ERN NETWORKS.
NUMBER 23 ON THE LIST, VASCERN
IS THE NETWORK BASICALLY SET UP
TO -- OWE FECIALLY FOCUSED ON
VASCULAR ANOMALIES.
WE HAVE 24 AND I'M JUST GOING TO
FOCUS ON VASCERN.
WHAT THE EU DID IN 2017, THIS
WAS ALL STARTED, THEY ASKED THE
MEMBER STATES OR THE COUNTRIES
TO DECIDE WHICH WERE THEIR
EXPERTISE CENTERS WITHIN THAT
COUNTRY.
SO TO COME UP WITH CRITERIA AND
BASICALLY A CERTAIN NUMBER OF
EXPERTISE CENTERS IN EACH
COUNTRY WERE SELECTED AND THOSE
CENTERS WERE PUT TOGETHER IN A
NETWORK AND WE HAVE SPECIFIC
CRITERIA FOR THE NETWORK ITSELF,
TO FORM A NETWORK.
NOW FOR EACH NETWORK, FOR EACH
NETWORK, THE EU MADE GRANTS
AVAILABLE, AND EACH NETWORKS ARE
GETTING ABOUT A MILLION DOLLARS
PER YEAR JUST TO MAINTAIN THE
NETWORK.
THIS IS AN EXAMPLE OF THE VAST
VASCULAR NETWORK.
THIS PHOTO IS ONE MEEFTINGS WE E
MEETINGS WE HAD IN THE PAST
YEAR.
SO THIS IS BASICALLY CONNECTING
THE EXPERTISE CENTERS IN THIS
COUNTRY.
WE DO NOT MEET THE CRITERIA THE
EUROPEAN NETWORKS ITSELF BUT DO
HAVE SUFFICIENT EXPERTISE JUST
TO TREAT PATIENTS WITH VASCULAR
ANOMALIES.
WHAT WE BASICALLY DID WITHIN
VASCERN, WE HAVE MULTIPLE TASK
FORCES AND YOU SEE THE LIST ON
THE RIGHT SIDE WITH ALL THE
DIFFERENT TASK FORCES, AND EVERY
EXPERTISE CENTER HAS MULTIPLE
SPECIALTIES WITHIN THE CENTER
ITSELF.
THOSE SPECIALTIES WERE PLACED IN
THE DIFFERENT TASK FORCES.
TO GO TO MY WISH LIST, WE'RE
NOTE ONLY GETTING MONEY JUST TO
MAINTAIN THE NETWORK BUT THE EU
ALSO PUT THE EUROPEAN REFERENCE
NETWORK CENTRAL IN THE WHOLE
GRANT APPLICATION SCHEME THEY
BASICALLY HAVE 40 EU, BASICALLY
MEANS THAT FIVE YEARS AGO, THE
EUROPEAN JOINT PROGRAM FOR RARE
DISEASES WAS INITIATED WHICH WAS
FUNDED FOR ABOUT $300 MILLION
AND WE BASICALLY HAVE ACCESS TO
THOSE FUNDS.
IT DOESN'T MEAN WE ALL GET THAT
MONEY BUT WE CAN APPLY FOR A
CHANGE OF PERSONNEL, SETTING UP
COLLABORATIVE RESEARCH, SETTING
UP REGISTRIES AND SO ON.
NOW WHAT WOULD BE MY WISH LIST,
WHAT'S HAPPENING IN ISSVA, IN
EUROPE, IN VASCERN, NUMBER ONE,
IF YOU GO BACK TO THE PROMs,
ABOUT THREE YEARS AGO, HIGHLY
SUPPORTED BY ISSVA, WORLDWIDE
DELPHI WAS PERFORMED JUST TO
DEFINE THE PROBLEMS -- FOR
VASCULAR ANOMALIES, AND IT WAS A
HUGE TASK, MOST OF THE EXPERT
CENTERS WORLDWIDE, NOT ONLY
EUROPE AND AMERICA WERE
INVOLVED, BUT ALSO THE PATIENT
ORGANIZATIONS, AND THE PROMs
WERE DEFINED.
THEY ARE NOW AVAILABLE AND WHAT
DO I SEE HAPPENING AND I'M NOT
SURE HOW WE'RE GOING TO SOLVE
THAT ONE, IS THAT THE MOMENT THE
INDUSTRY IS STARTING A STUDY,
THEY ARE STILL FOCUSING ON
PARAMETERS OR OUT COME
PARAMETERS THEY KNOW WHAT THEY
BASICALLY USE FOR ONCOLOGY.
SO LOOKING AT FOR INSTANCE THE
SIZE OF A VASCULAR MALFORMATION
AND NOT THE QUALITY OF LIFE.
SO SOMEHOW IN THE GRANT
APPLICATION ITSELF, FOR THE
INDUSTRY OR FOR THE DIFFERENT
INSTITUTIONS, PROMs SHOULD BE
A IMPORTANT PART, AND THEY
SHOULD BE OBLIGED TO USE THE
PROMs.
THE FAIR REGISTRIES, THAT'S
SOMETHING I REALLY COULD TALK
ABOUT FOR A LONG PERIOD OF TIME,
BUT FAIR BASICALLY MEANS
REGISTRIES ARE ACCESSIBLE BY
COMPUTERS FROM THE OUTSIDE.
IT'S A HUGE UNDERTAKING FOR
EUROPE ITSELF, THERE'S A LOT OF
FOCUS ON THAT ONE, A LOT OF
MONEY JUST TO SET THIS UP, IT'S
ALSO HAPPENING IN THE UNITED
STATES AT THE MOMENT.
WHAT I DO SEE, AND THAT'S A REAL
CONCERN FOR ME, IS THAT THE SAME
THING WHAT HAPPENED ABOUT 10
YEARS AGO WITH THE START OF THE
DICOM STANDARD, IS THAT THERE IS
NO UNIFORMITY IN DESIGN.
SO EVERYBODY IS BASICALLY
DEVELOPING THEIR OWN STANDARDS,
AND I THINK THERE SHOULD BE
UNIFORMITY IN DESIGN.
BECAUSE AGAIN, THE FAIR DATA
POINTS ARE THE ACCESS POINTS TO
THE SEPARATE DATABASES, AND
THERE ARE A HUGE AMOUNT OF DATA
AVAILABLE, NOT ONLY IN BIOLOGY,
IN MEDICINE, IN PHARMACOLOGY,
AND BASICALLY WE NEED TO OPEN
ALL THOSE INFORMATION.
AND THE FAIR DATA POINTS ARE THE
FIRST STEP FOR THE FAIR
REGISTRIES TO MAKE IT VIBL.
IT
ACCESSIBLE.
LATER ON WE CAN TALK ABOUT
ONTOLOGIES OR HOW TO DO SEMANTIC
MODELING BUT THAT'S THE NEXT
STEP.
AND THEN THE THIRD THING WHICH
IS REALLY IMPORTANT IN MY IDEA
IS THAT EXPERT CENTERS NEED TO
BE RECOGNIZED BUT ALSO NEED TO
BE EVALUATED.
SO THERE NEEDS TO BE
MULTIDISCIPLINARY, WE NEED TO
LOOK AT THE SUSTAINABILITY OF
THOSE CENTERS.
IT SHOULD NOT BE DEPENDENT ON
JUST ONE PERSON, AND IT NEEDS TO
BE HIGHLY SUPPORTED BY THEIR OWN
UNIVERSITY.
SO THIS IS BASICALLY MY WISH
LIST.
I HOPE I GAVE SOME INSIGHT IN
HOW WE BASICALLY ARE ORGANIZING
THINGS IN THE UNITED STATES --
IN EUROPE.
SORRY.
THANK YOU.
>> THANK YOU VERY MUCH, LEO.
WE WILL MOVE ON TO THE NEXT
SPEAKER, BETH STRONACH.
DR. BETH STRONACH IS THE
PRESIDENT OF RASOPOTHIES
NETWORK.
BETH?
>> HELLO.
THANK YOU TO THE COMMISSION FOR
INVITING US TO PARTICIPATE
TODAY.
MY NAME IS BETH STRONACH,
PRESIDENT OF ROSSOPATHIES
NETWORK.
MY SON SAM, WHICH HOPEFULLY YOU
CAN SEE THE SLIDES, HE IS
MINORITY STAR.
SO RASOPOTHY'S NETWORK IS A
NON-PROFIT ADVOCACY ORGANIZATION
FOUNDED IN 2010 DEDICATE TODAY
ADVANCING RESEARCH ON RASOPOTHY
CONDITIONS.
WE DO THIS BY FOSTERING
COLLABORATION AMONG RESEARCHERS,
CLINICIANS, AND PATIENT
COMMUNITIES BY CONVENING
INTERNATIONAL SCIENTIFIC
SYMPOSIA, FUNDING PILOT RESEARCH
PROJECTS, SUPPORTING EARLY
CAREER INVESTIGATORS AND
CONNECTING FAMILIES AND PATIENT
ORGANIZATIONS.
BY DOING THIS WE CREATE A SENSE
OF URGENCY AND SHARED COMMITMENT
TO ACCELERATE KNOWLEDGE AND
PROGRESS.
RASOPOTHYS COMPRISE A LARGE
GROUP OF CONGENITAL GENETIC
SYNDROMES SEEN IN RED.
THEIR FEATURES OVERLAP ON A
CLINICAL SPECTRUM FROM MILD TO
SEVERE AND THEY SHARE A
PATHOGENIC MECHANISM.
MUTATIONS INAPPROPRIATELY
ACTIVATE THE CELLULAR RAS MAP
KINASE CASCADE.
THEY AFFECT AS MANY AS ONE IN
1,000 BIRTHS ALTHOUGH SOME ARE
QUITE RARE.
THESE CONDITIONS IG IS CAN'TLY
IMPACT NUMEROUS BODY SYSTEMS
LEADING TO SERIOUS HEALTH
CHALLENGES AND INCREASED CANCER
RISK.
FOR THOSE SIGNIFICANTLY
AFFECTED, THERE ARE NO CURES,
ONLY SUPPORTIVE CARE AND
TREATMENT.
RELEVANT TO TODAY'S DISCUSSION,
RASOPOTHYS CAN CAUSE CENTRAL
CONDUCTING LYMPHATIC ANOMALIES
AND IT'S ESTIMATED THAT ONE IN
FIVE INDIVIDUALS WITH RASOPOTHY
HAVE SOME FORM OF LYMPHATIC
DYSPLASIA.
BUT WE SEE OPPORTUNITIES IN
PROMISING THERAPEUTIC ASSETS IN
ONCOLOGY, A GROWING NUMBER OF
CASE STUDIES DESCRIBING OFF
LABEL USE OF MEK INHIBITORS FOR
VARIOUS INDICATIONS AND STRONG
PARTNERSHIPS WITH FAMILY SUPPORT
GROUPS.
THE RAS MAP KINASE PATHWAY IS A
CELLULAR SIGNALING PATHWAY
DEPICTED HERE WITH KEY PROTEINS
IN THE SIGNALING RELAYS SHOWN IN
THE OVALS.
MAPPED ON TO THIS PATHWAY ARE
THE RASOPOTHY SYNDROMES CAUSED
BY GERMLINE RAS PATHWAY
MUTATIONS IN A LARGE NUMBER OF
PROTEINS IN THIS PATHWAY.
THE VAST MAJORITY OF HUMAN
RASOPOTHY VARIANTS ARE DOMINANT,
ACTIVATING KN MUTATIONS,
INTERMEDIATE IN STRENGTH BETWEEN
THEONICS JEK MUTATIONS AND
NORMAL SIGNALING.
INDIVIDUALS WITH RASOPOTHYS CAN
FACE MANY HEALTH CHALLENGES
LISTED HERE, ONE OF WHICH IS A
DEFECTIVE LYMPHATIC SYSTEM.
SEVERAL DECADES OLD PUBLICATIONS
DESCRIBE LYMPHATIC ISSUES IN
PEOPLE WITH NOONAN SYNDROME, ONE
OF THE RASOPOTHYS, YET THIS
ASPECT OF THESE SYNDROMES HAS
BEEN POORLY STUDIED.
AS RECENTLY AS 2022, PHYSICIAN
SURVEYS REPORTED HEALTH --
SORRY -- RECORDED HEART AND
LYMPHATIC PROBLEMS AS THE MOST
SERIOUS FACTORS AFFECTING
QUALITY OF LIFE IN INFANTS WITH
NOONAN SYNDROME IN THE UPPER
LEFT.
SYMPTOMS CAN ARISE AT ANY AGE
ACROSS THE LIFESPAN.
WORK FROM SEVERAL GROUPS
INCLUDING THE CHILDREN'S
HOSPITAL OF PHILADELPHIA HAVE
SUBSTANTIALLY ADVANCED OUR
UNDERSTANDING OF THE GENETICS OF
COMPLEX LYMPHATIC ANOMALIES,
IDENTIFYING GERMLINE AND MOSAIC
RASOPOTHYS AS A MAJOR CAUSE AND
DOCUMENTING A RANGE OF
PHENOTYPES IN THE LOWER LEFT.
FROM PUBLISHED LITERATURE AND
OUTREACH TO FAMILIES WITH
VARIOUS RASOPOTHY SYNDROMES AND
DIFFERENT GENE MUTATIONS THAT
ARE EXPERIENCING LYMPHATIC
ISSUES, HERE I SUMMARIZE THE
MOST FREQUENT AND SIGNIFICANT
HEALTH AND RESOURCE CHALLENGES
FACED.
LYMPHATIC PROBLEMS CAN BE
DIFFICULT TO IDENTIFY AND
DIAGNOSE IN THE CONTEXT OF A
SYNDROME WITH MULTIPLE
COMORBIDITIES.
STANDARD THERAPIES ARE
INSUFFICIENT.
IT'S LIKE A BAND-AID AND NOT A
CURE.
THERE IS SILOED CARE.
VARIOUS SPECIALTIES SAY IT'S NOT
IN THEIR WHEELHOUSE WHICH POINTS
TO A LACK OF EXPERT PROVIDERS.
THERE IS OFTEN A NEED TO TRAVEL
TO SEEK DIAGNOSIS AND CARE WHICH
INCURS FINANCIAL COSTS,
LOGISTICAL STRESSES AND MISSED
SCHOOL AND WORK, ET CETERA.
OFF LABEL TREATMENT WITH MEK
INHIBITORS HAS LITERALLY BEEN A
LIFE SAVER BUT IT IS COSTLY,
IT'S DIFFICULT TO OBTAIN AND IT
POSES SIDE EFFECTS.
THERE'S A LACK OF TECHNOLOGIES
AND ASSISTIVE CARE FOR INFANT
AND PEDIATRIC PATIENTS.
AND INDIVIDUALS EXPERIENCED
TRAUMA AND FEAR OF RECURRENCE
AND WORSENING SYMPTOMS.
THIS FIGURE DEPICTS THE RAS MAP
KINASE PATHWAY AGAIN AND THE
SIGNALING NODE, MEK, THAT IS THE
TARGET OF MEK INHIBITORS,
TRAMETINIB AND SELUMETINIBMENT
THE GREY BOXES SHOW VARIANTS IN
GENES OF PATIENTS
THERAPEUTICALLY TREATED WITH
THESE MEK INHIBITORS WHICH HAVE
SO FAR DEMONSTRATED REMARKABLE
EFFECTS.
FOR OUR COMMUNITY, THE TOP
WISHES TO IMPROVE THEIR LIVES
ARE LISTED.
WE NEED TO EDUCATE EDUCATE DOCD
EQUIP HOSPITALS TO IDENTIFY AND
TREAT COMPLEX LYMPHATIC
DISORDERS.
THERE NEEDS TO BE COORDINATION
OF CARE THAT INCLUDES VASCULAR
AND LYMPHATIC SPECIALISTS.
WE NEED AFFORDABLE AND
ACCESSIBLE SUPPORTIVE
TREATMENTS, INCLUDING MENTAL
HEALTH, MASSAGE, AND NUTRITIONAL
HELP.
PROGRESS IN RESEARCH AND
KNOWLEDGE OF SYNDROMIC LYMPHATIC
ISSUES.
AND WE NEED CLINICAL TRIALS OF
MOLECULES THAT TARGET THE RAS
MAP KINASE PATHWAY BEYOND
ONCOLOGY.
WE NEED APPROVED, SAFE
TREATMENTS AND CURES.
THANK YOU TO THE FAMILIES WHO
SHARED THEIR EXPERIENCES WITH ME
AND THANK YOU TO THE COMMISSION
FOR LISTENING.
I'D LIKE TO INTRODUCE TWO
PATIENT RE REPRESENTATIVES WHO E
WITH ME TODAY, ASHLEY GENELIN
AND GRETCHEN SPIESS TO REFLECT
ON THEIR EXPERIENCES.
>> GOOD MORNING.
MY NAME IS ASHLEY GENELIN, AND I
WORK FOR CFC INTERNATIONAL BUT
EVEN MORE IMPORTANTLY, I AM THE
MOM OF A LITTLE BOY WHO HAD CFC
SYNDROME.
EVERY DAY COUNTLESS CHILDREN ARE
BORN WITH CONGENITAL LYMPHATIC
DISORDERS AND TOO MANY ARE LEFT
TO SUFFER BECAUSE THESE
CONDITIONS ARE POORLY
UNDERSTOOD.
MY SON MYLES WAS ONE OF THEM.
HE WAS BORN WITH A CONGENITAL
CHYLOTHORAX.
FROM HIS VERY FIRST BREATH, THIS
CONDITION WAS A SILENT THREAT TO
HIS LIFE.
BY THE TIME IT WAS FINALLY
DIAGNOSED WHEN THE EFFUSION WAS
SO LARGE IT COULD BE SEEN ON
X-RAY, MYLES WAS ALREADY IN
RESPIRATORY FAILURE.
AT THE TIME, MYLES DID NOT HAVE
A GENETIC DIAGNOSIS, AND THERE
WAS NO CONCERN FOR ANY TYPE OF
CONGCONGENITAL LYMPHATIC DISORD.
A GENETIC DIAGNOSIS WOULDN'T
COME UNTIL HE WAS 3 MONTHS OLD
AND BY THEN HE WAS ALREADY
DEPENDENT ON A VENTILATOR.
THE DIAGNOSIS WAS JUST THE
BEGINNING.
IT DIDN'T STOP THERE.
HIS FRAGILE LYMPHATIC SYSTEM
OVERREACTED TO EVERY MEDICAL
PROCEDURE.
A ROUTINE TONS ELECT ME, A
SURGERY MOST CHILDREN RECOVER
FROM IN DAYS, SENT HIS BODY INTO
GUT FAILURE.
FOR A YEAR AND A HALF, MYLES
LIVED ON TOLD PARENTERAL
NUTRITION AN ENDURING OVER 18
CENTRAL LINES BECAUSE OF HIS
LYMPHATIC SYSTEM OVERREACTION
CAUSED EACH ONE TO FAIL.
EVERY ATTEMPT TO HELP HIM SEEMED
TO UNLEASH NEW COMPLICATIONS.
HE WAS CONSTANTLY BEING RIPPED
FROM HIS FAMILY TO UNDERGO
TESTING, HOSPITAL STAYS AND
CONVERSATION AFTER CONVERSATION
ABOUT HOW NOBODY KNEW WHAT TO DO
NEXT.
DESPITE OUR EFFORTS, IT TOOK
WEEKS TO ARRANGE FOR HIS CASE TO
BE REVIEWED BY EXPERTS AT A
CHILDREN'S HOSPITAL ACROSS THE
COUNTRY.
EACH TIME WE TRIED TO GO, MYLES
GOT TOO SICK.
WHEN WE FINALLY MANAGED A VIDEO
CONSULTATION, IT WAS TOO LATE.
THERE WERE NO MORE TREATMENTS,
NO MORE INTERVENTIONS AND NO
MORE OPTIONS.
MYLES' CONDITION HAD PROGRESSED
BEYOND WHAT CURRENT MEDICINE
COULD ADDRESS.
MYLES WAS BORN AT AND TREATED
HIS ENTIRE LIFE AT ONE OF THE
TOP HOSPITALS IN THE WORLD, AND
EVEN THEIR ANSWERS WITH SCARCE.
WHEN OUR SWEET MYLES WAS ONLY
3 YEARS OLD THE COMPLICATIONS
FROM HIS CON GENERAL TALL
LYMPHATIC DISORDER TOOK SUCH A
TOLL ON HIS QUALITY OF LIFE AND
HIS OPTIONS FOR THE FUTURE, AND
WE HAD TO MAKE THE VERY
DIFFICULT DECISION TO REMOVE THE
RESPIRATORY SUPPORT THAT HE HAD
SINCE HIS INITIAL CHYLOTHORAX.
HE WAS THE FIRST PEDIATRIC
PATIENT TO UNDERGO A COMPLETE CT
LIMB FANGIO GRAM AT MAYO CLINIC,
A CRITICAL DIAGNOSTIC TOOL THAT
SHOULD HAVE BEEN AVAILABLE TO
HIM FAR SOONER.
HIS LIFE WAS A FIGHT AGAINST A
CONDITION WE DIDN'T FULLY
UNDERSTAND, AND THE DELAYS IN
DIAGNOSTICS AND INTERVENTION
WERE BATTLES THAT WE SHOULDN'T
HAVE HAD TO FACE.
MYLES DESERVED BETTER.
EVERY CHILD BORN WITH A
CONGENITAL CHYLOTHORAX AND OTHER
LYMPHATIC DISORDERS DESERVES
BETTER.
WITH NEED TO EDUCATE DOCTORS
ABOUT CONGENITAL LYMPHATIC
DISORDERS, IMPROVE DIAGNOSTIC
TOOLS AND MAKE INTERVENTION
ACCESSIBLE AND TIMELY.
MYLES' LIFE WAS FILLED WITH
COURAGE BUT IT SHOULDN'T HAVE
BEEN FILLED WITH SO MANY
PREVENTABLE STRUGGLES.
WE CAN AND MUST DO MORE.
FOR MYLES AND FOR EVERY CHILD
LIKE HIM.
THANK YOU.
>> THANK YOU FOR ALLOWING ME TO
SHARROW LIVE YA'S STORY.
MY NAME IS GRETCHEN SPIESS.
I'M GOING TO SHARE ABOUT MY
DAUGHTER.
SHE'S ALMOST 4 YEARS OLD.
AND SHE ALSO HAS CARDIO --
SYNDROME.
SHE WAS BORN AT 30 WEEKS AND
WHEN SHE WAS BORN, WE HAD NO
IDEA THAT ANYTHING WAS WRONG AT
THE TIME.
AND SHE IMMEDIATELY WENT INTO
RESPIRATORY DISTRESS AS WELL, AS
SIMILAR TO MYLES.
AND SHE ENDED UP GETTING HER --
SHE WAS INTUBATED ON DAY 2 AND
ENDED UP GETTING HER
TRACHEOSTOMY ONE DAY SHY OF HER
DUE DATE AT 10 WEEKS OLD.
SHE DID NOT HAVE A CHYLOTHORAX
AT THAT TIME, BUT SHE DID GET A
CHYLOTHORAX AT 4 MONTHS OLD, AND
WE DEALT WITH SOME DIFFICULTIES
GETTING INSURANCE APPROVAL SO
GET SOME GENETIC TESTING DONE AT
THAT TIME.
WE KNEW BASED ON HER HEART
DEFECTS THAT SHE LIKELY HAD A
RASOPOTHY, BUT IN ORDER TO
FIGURE OUT WHAT TREATMENTS WE
NEEDED TO PURSUE, WE REALLY
NEEDED TO KNOW IF SHE REALLY DID
HAVE A RASOPOTHY.
AND WE ENDED UP PAYING OUT OF
POCKET TO GET GENETIC TESTING
DONE.
AND WE JUST DID THE RASOPOTHY
PANEL AND IT CAME BACK WITH THE
BRAF MUTATION.
SO WE WORKED WITH THE
NEONATOLOGISTS WHERE WE WERE
LOCATED AND ALSO CONTACTED THE
PEOPLE UP AT CHOP, WHICH WAS ONE
OF THE LYMPHATIC GREAT HUBS, AND
WE WERE ABLE TO GET HER
TRANSFERRED UP THERE AFTER
GETTING A BIOPSY TO CONFIRM THAT
SHE HAD PULMONARY LIMB FAN CHECK
TAI SHA AND THAT'S WHAT WAS
CAUSING THE CHYLOTHORAX AND SHE
WASN'T RESPONDING TO TREATMENT.
SO MY LIT BITTY 6 1/2 POUND
CHILD AT THAT TIME HAD AN ADULT
ATRIUM DRAINING HER CHYLOTHORAX,
WHICH IS KIND OF A SCARY
THOUGHT.
THEY WERE REPLACING ALBUMEN AND
EVERYTHING ELSE BUT WE HAD BEEN
SAT DOWN WITH THE DOCTORS AND
TOLD THAT SHE MOST LIKELY WOULD
NOT MAKE IT.
BUT THEY WERE WILLING TO TRY.
SO WE GOT HE HER UP TO CHOP AND
THEY WERE ABLE TO DO IMAGING.
BASICALLY HER LYMPHATIC SYSTEM
LOOKED LIKE A SPIDER WEB.
THEY HAD GIVEN ME THIS PICTURE
AND AS A MOM -- OF WHAT THE
LYMPHATIC SYSTEM SHOULD LOOK
LIKE AND IT LOOKED VERY LINEAR,
I GUESS I WOULD SAY, WITH THE
OLYMPICS.
WITH HERS SHE HAD LYMPHATIC
VESSELS WRAPPING AROUND HER
HEART AND JUST DUMPING INTO THE
INTERCOSTAL REGION, AND JUST NOT
THE WAY IT SHOULD LOOK, AND SO
THEY SAID SHE NEEDED TO GO ON
TRA MATT ANYBODY.
WITHIN A MONTH, SHE CAME OFF THE
VENTILATOR.
IT WAS AMAZING.
AND SHE WAS ABLE TO COME HOME AT
6 MONTHS OLD AND MEET HER
SICIALTION WHICH WAS AMAZING.
SIBLINGS.
WHICH WAS AMAZING.
SHE DID HAVE TO COME OFF IT 10
MONTHS LATER BECAUSE OF GI
BLEEDING.
WE HAVE NO IDEA IF THAT WAS FROM
THE MEDICATION OR THE FORMULA
THAT IT DAIRY IN IT.
TO MAKE A LONG STORY SHORT,
ABOUT A YEAR AGO, SHE STARTED
GOING BACK INTO PULMONARY
DISTRESS, GOT ANOTHER LUNG
BIOPSY WHICH AGAIN IS VERY
INVASIVE SO I THINK DIAGNOSTIC
INFORMATION THAT WOULD BE LESS
INVASIVE WOULD BE VERY IMPORTANT
HERE.
BUT HER PULMONARY LIMB
LYMPHANGIECTASIA WAS MUCH WORSE
SO SHE WENT BACK ON, ALSO
DEVELOPED PLASTIC BRONCHITIS
THIS YEAR WHICH IS ANOTHER
LYMPHATIC ISSUE AND WE'RE ALSO
NOT SURE IF SHE HAS INTESTINAL
LYMPHANGIECTASIA BUT AGAIN
DIAGNOSTICS ARE VERY DIFFICULT.
SO THAT'S OLIVIA'S STORY.
SHE IS HAPPY, GROWING, AS SOON
AS SHE STARTED THE TRE MATT
ANYBODY IN SEPTEMBER THIS YEAR,
SHE'S BACK OFF THE VENTILATOR
AGAIN.
SO IT WORKS, BUT HOW LONG DO YOU
STAY ON IT, DOES IT REALLY WORK,
WHEN CAN YOU GO OFF IT, A LOT OF
THESE QUESTIONS ARE UNKNOWN.
IT WOULD BE REALLY HELPFUL TO
HAVE ANSWERS AS A MOM, WHAT ARE
THE SIDE EFFECT, ARE THEY REALLY
COMING FROM THAT OR ALL THESE
OTHER PROBLEMS THAT ARE PART OF
THE SYNDROME, HOW DO YOU
DIFFERENTIATE ALL THIS, WE JUST
DON'T KNOW.
>> THANK YOU AGAIN FOR SHARING
ALL THE STORIES.
AND WE WILL MOVE TO THE NEXT AND
THE LAST PRESENTATION BY
BRITTANY WILLIAMS.
SHE'S THE FOUNDER AND EXECUTIVE
DIRECTOR OF BRYLAN'S FEAT
FOUNDATION.
BRITTANY?
>> FIRST, THANK YOU TO THE
COMMISSION FOR THE OPPORTUNITY
TO SPEAK TODAY AND A SPECIAL
THANK YOU TO THE LEADERS OF THE
ORGANIZATIONS THAT PRESENTED AND
THE PATIENTS WHO SHARED THEIR
STORIES, AS IT IS VERY CLEAR TO
SEE THE SIMILAR STRUGGLES
THROUGHOUT THE LYMPHATIC
DISEASES AND THE VERY MUCH
IMPORTANCE OF FUTURE
COLLABORATIONS.
AS MENTIONED, MY NAME IS
BRITTANY WILLIAMS.
AND I AM THE FOUNDER AND
EXECUTIVE DIRECTOR OF THE FIRST
AND ONLY NON-PROFIT IN THE WORLD
SPECIFIC TO PEDIATRIC
LYMPHADEMA, BRYLAN'S FEAT
FOUNDATION.
THIS BEAUTIFUL LITTLE GIRL YOU
SEE HERE IS MY DAUGHTER BRYLAN.
SHE WAS DIAGNOSED WITH INFANT
ONSET PRIMARY LYMPHADEMA WHEN
SHE WAS JUST 11 MONTHS OLD WITH
NO GENETIC COMPONENT AS WE WERE
TOLD SHE WAS A FLUKE CASE.
LYMPHADEMA IS THE CHRONIC
SWELLING IN PARTS OF THE BODY
DUE TO THE LYMPHATIC SYSTEM
DEVELOPING ABNORMALLY OR DAMAGE
OR TRAUMA OCCURRING, SUCH AS
CANCER TREATMENT.
IT IS BECAUSE OF MY PERSONAL
EXPERIENCE OF STRUGGLING TO NOT
ONLY FIND A DIAGNOSIS, WHICH
INCLUDED SEVERAL -- SEEING
SEVERAL DOCTORS IN SEVERAL
STATES WITHOUT ANY ANSWERS, BUT
THEN REALIZING THAT THERE WAS NO
AFTER-DIAGNOSIS GUIDANCE AND NO
RESOURCES FOR CHILDREN AND THEIR
FAMILIES, THAT I WANTED TO DO
SOMETHING TO GIVE BACK.
SO IN 2018, I LAUNCHED BRYLAN'S
FEAT FOUNDATION.
VERY QUICKLY, I REALIZED THE
DEPTH THAT MY ORGANIZATION
NEEDED TO ACCOMMODATE, AND WE
REVAMPED OUR MISSION FROM JUST
PROVIDING GARMENTS TO CHILDREN
IN THE UNITED STATES TO NOW
HAVING TREATMENT RECIPIENTS IN
33 COUNTRIES AND COUNTING.
WE PROVIDE ACCESS TO BANDAGING
SUPPLIES, CUSTOM GARMENTS,
VIRTUAL EDUCATION SESSIONS WITH
CERTIFIED LYMPHADEMA THERAPISTS,
PNEUMATIC COMPRESSION PUMPS AND
FINANCIAL AID FOR TREATMENT AND
SURGICAL OPTIONS, BOTH FOR
PRIMARY AND SECONDARY PEDIATRIC
LYMPHADEMA PATIENTS.
IN 2019, I PARTNERED WITH BETTY
WESTBROOK, PTA, CLT, LYMPHADEMA
ADVOCATE, FOUNDER OF LYMPHADEMA
PODCAST AND NOW OUR MEDICAL
ADVISOR FOR BRYLAN'S FEAT
FOUNDATION OR BFF AS WE CALL TO
CREATE THE FIRST EVER SUMMER
CAMP IN NORTH AMERICA, CAMP
WATCHME FOR FAMILIES AFFECTED BY
PEDIATRIC LYMPHADEMA TO CREATE
COMMUNITY AND CRUCIAL EDUCATION
OPPORTUNITIES.
WE HAVE SINCE ALSO COFOUNDED
PEDIATRIC LYMPHADEMA ALLIANCE AS
A FOR-PROFIT PARTNER TO BFF,
WHICH PROVIDES CUSTOMIZABLE
PEDIATRIC BANDAGING KITS,
EDUCATION COURSES FOR PEDIATRIC
TREATMENT CATERED TO FAMILIES,
AS WELL AS CONTINUING EDUCATION
COURSES FOR CERTIFIED LYMPHADEMA
THERAPISTS.
CHALLENGES FOR PEDIATRIC
LYMPHADEMA PATIENTS.
LACK OF KNOWLEDGEABLE DOCTORS
AND MEDICAL PROFESSIONALS.
THIS IS HARMFUL AS DOCTORS ARE
FAILING TO RECOGNIZE EARLY
SYMPTOMS LEADING TO DELAYED
DIAGNOSES, AND IN TURN PROLONGED
DISCOMFORT OR COMPLICATIONS LIKE
CELLULITIS.
UNFORTUNATELY, DOCTORS AND
MEDICAL PROFESSIONALS ARE
MISDIAGNOSING OR OFFERING
INAPPROPRIATE TREATMENTS, WHICH
CAN WORSEN SWELLING AND IMPAIR
LONG TERM OUTCOMES.
ADDITIONALLY, THEIR LACK OF
AWARENESS DENIES FAMILIES
CRUCIAL GUIDANCE ON EFFECTIVE
MANAGEMENT STRATEGY, LEAVING
THEM TO NAVIGATE THE CONDITION
WITHOUT NECESSARY RESOURCES OR
SUPPORT.
THIS GAP IN KNOWLEDGE
PERPETUATES A CYCLE OF
UNDERTREATMENT AND MISSED
OPPORTUNITIES FOR EARLY
INTERVENTION THAT COULD IMPROVE
QUALITY OF LIFE.
EARLY INTERVENTION IS A KEY
FACTOR IN SUCCESSFUL LYMPHADEMA
MANAGEMENT, AND TO HINDER THIS
POPULATION OF THIS OPPORTUNITY
FOR SUCCESS IS NOT OKAY.
THESE SIGNIFICANT FACTORS LOAD D
TO LIFE-THREATENING SITUATIONS
SUCH AS A CHILD THAT HAS A CLEAR
LYMPHADEMA DIAGNOSIS BUT HAS AN
ONSET INFECTION THAT IS NOT
PROPERLY TREATED, AND THEN
CAUSES IRREVERSIBLE FURTHER
DAMAGE TO THEIR LYMPHATIC
SYSTEM, WORSENING ILLNESS SUCH
AS SEPSIS AND EVEN DEATH.
UNFORTUNATELY, -- UNFORTUNATELY,
WE HAVE HAD THIS HAPPEN TO THREE
CHILDREN UNDER THE AGE OF
5 WITHIN OUR ORGANIZATION
RECENTLY.
SCARCE ACCESS TO SPECIALIZED AND
AFFORDABLE CARE.
AFTER DIAGNOSIS, THE NEXT STEP
IS TYPICALLY BEING REFERRED TO A
CERTIFIED LYMPHADEMA THERAPIST
FOR TREATMENT.
THE ISSUE HERE IS THAT CLTs
ARE SCARCE FOR ALL LYMPHADEMA
PATIENTS, BUT ACCESS TO ONE FOR
CHILDREN IS AN IMMENSE HURDLE,
AS MANY HAVE NEVER TREATED A
CHILD OR THEY WORK IN A HOSPITAL
SYSTEM OR A CLINIC THAT DOES NOT
ALLOW THEM TO TREAT CHILDREN.
THIS CAUSES DELAYS IN MANAGING
THE CONDITION AND THE
POSSIBILITY OF INAPPROPRIATE OR
INEFFECTIVE CARE, WHICH CAN LEAD
TO COMPLICATIONS, WORSENING
SYMPTOMS OR INFECTIONS.
SPECIALIZED TREATMENT SUCH AS
COMPRESSION THERAPY, MANUAL
LYMPHATIC DRAINAGE OR SURGICAL
INTERVENTIONS ARE EXPENSIVE AND
OFTEN NOT COVERED BY INSURANCE,
PLACING A HUGE FINANCIAL BURDEN.
FAMILIES MAY NEED TO TRAVEL LONG
DISTANCES TO ACCESS SPECIALISTS,
ADDING LOGISTICAL AND FURTHER
FINANCIAL STRAIN, PARTICULARLY
FOR THOSE IN RURAL OR
UNDERSERVED AREAS.
THE LACK OF ACCESS AND
AFFORDABLE CARE CAN CAUSE
STRESS, FRUSTRATION, AND FEELING
OF HELPLESSNESS IN FAMILIES,
WHILE CHILDREN MAY EXPERIENCE
PROLONGED DISCOMFORT AND LIMITED
MOBILITY.
MINIMAL EDUCATION RESOURCES.
THE ORGANIZATIONS WITHIN THE
LYMPHADEMA COMMUNITY,
MANUFACTURERS AND THE CONTINUING
EDUCATION SCHOOLS HAVE MINIMAL
TO NO EDUCATION RESOURCES
SPECIFIC TO PEDIATRIC
LYMPHADEMA.
ADDRESSING THE LACK OF EDUCATION
RESOURCES FOR PEDIATRIC
LYMPHADEMA REQUIRES A
MULTIFACETED APPROACH INVOLVING
HEALTHCARE PROVIDERS, ADVOCACY
GROUPS, COMMUNITY NON-PROFITS,
CONTINUING EDUCATION SCHOOLS,
AND FAMILIES.
THE MOST IMPORTANT AREA TO FOCUS
ON WOULD BE THE SCHOOLS TO
ENSURE MORE CLTs HAVE AN
UNDERSTANDING OF THE
MODIFICATIONS NEEDED WHEN
TREATING A CHILD.
CLTs ARE A PARENT OR
CAREGIVER'S MAIN RESOURCE AND
LIFE LINE WHEN IT COMES TO
SUCCESSFULLY MANAGING THEIR
CHILD'S CONDITION.
LIMITED COMMUNITY FOR PATIENTS
AND THEIR FAMILIES.
THIS CAN LEADS TO FEELINGS OF
ISOLATION AND LACK OF EMOTIONAL
SUPPORT AS FAMILIES MAY STRUGGLE
TO CONNECT WITH OTHERS WHO WOULD
UNDERSTAND THEIR CHALLENGES.
THIS GAP OFTEN LEAVES PARENTS
WITHOUT ACCESS TO SHARED
EXPERIENCES OR PRACTICAL ADVICE
FOR MANAGING THEIR CONDITION,
AND WITHOUT A SOLID NETWORK,
CHILDREN MAY FACE DIFFICULTY IN
BUILDING SELF-CONFIDENCE, AS
WELL AS COMPLIANCE OF TREATMENT.
AND PARENTS MAY FIND IT HARDER
TO ADVOCATE FOR NECESSARY
ACCOMMODATIONS IN SCHOOLS AND
HEALTHCARE SETTINGS.
IF ALSO HINDERS AWARENESS AND
RESOURCE SHARING, MAKING IT
HARDER TO FIND SPECIALIZED CARE
AND EDUCATIONAL MATERIALS.
LY NOW HAND OFF THE NEXT SLIDE
TO OUR MEDICAL ADVISOR, BETTY
WESTBROOK.
>> THANK YOU, BRITTANY.
ALSO THANK YOU FOR ALLOWING ME
TO PRESENT TODAY.
AND ALSO TO HEAR FROM THE OTHER
PRESENTERS BECAUSE IT'S REALLY
COURAGEOUS, WHAT ALL OF THESE
MOTHERS HONESTLY HAVE BEEN ABLE
TO DO.
AND I APPRECIATE THE MEDICAL
PROFESSIONALS WHO ARE PART OF
THAT AND SUPPORTING THEM AS
WELL.
SO TO HIGHLIGHT PART OF WHAT WE
REALLY DON'T WANT TO TALK ABOUT
AS CLINICIANS OR EVEN AS PARENTS
IS THAT PEDIATRIC LYMPHADEMA HAS
A HIGHER RISK DUE TO THE
INFECTION OF THESE CHILDREN NOT
SURVIVING AN INFECTION.
AND WE HAVE HAD UNFORTUNATELY
THREE TRAGIC DEATHS OF OUR
RECIPIENTS WHO WERE INNATIONAL.
THE ONE WAS -- WE DID HAVE A
NEAR -- OR LUCKILY LIKE A MISS
ON THAT, WE HAD A RECIPIENT
WHO'S UNDER THE AGE OF 2, AND
THEY LIVE IN MINNESOTA AND THEY
HAD HAD A TONS ELEC TONS LEK TOD
ADENOID REMOVAL, AND WHEN THAT
CHILD WENT HOME AND DEVELOPED
SWELLING AND REDNESS, THE
MEDICAL TEAM ADVISED IT WAS JUST
ANOTHER REACTION TO TAPE AND
ADVISED THE PARENTS TO GIVE THE
CHILD BENADRYL UNTIL THEY COULD
GET BACK INTO CLINIC OR HOSPITAL
ON MONDAY.
AND THIS CHILD PRESENTED WITH
GLOBAL LYMPHADEMA, IT WAS
ALREADY PRESENT IN THEIR FACE,
AND SO THEY ACTUALLY WERE HAVING
A REALLY SEVERE CELLULITIS
INFECTION FROM THE ADENOID
REMOVAL, AND SO THIS CHILD WAS
AT THE VERY HIGHEST SEPTIC LEVEL
BY THE TIME THEY WERE ABLE TO DO
THE BLOOD PANEL.
AND ISSUE THE I.V. ANTIBIOTICS.
IT'S THINGS LIKE THIS THAT WE
SEE WHERE THE EDUCATION AND
AWARENESS REALLY IS CRITICAL AND
IS ACTUALLY LIFE OR DEATH FOR
SOME OF THESE KIDDOS WHO GET TO
THAT POINT.
SO ONE OF THE MAJOR THINGS WE'RE
GOING TO TALK ABOUT IS AWARENESS
AND EDUCATION, AND MANY OTHERS
HAVE ALSO INCLUDED THIS IN THEIR
SLIDE.
RIGHT NOW KNOWS MEDICAL
PROFESSIONALS INCLUDING DOCTORS,
THEY RECEIVE LITTLE TO NO
TRAINING ON PEDIATRIC LYMPHADEMA
OR CERTIFICATION PROGRAMS, AS I
AM A CLT.
THEY OFTEN PRIORITIZE CONDITIONS
LIKE BREAST CANCER AND
CARDIOVASCULAR-RELATED
LYMPHADEMA, LEAVING PEDIATRIC
CASES OVERLOOKED.
AND THIS GAP LEADS TO DELAY IN
DIAGNOSIS, MISDIAGNOSIS AND EVEN
INADEQUATE FOLLOW-UP CARE FOR
CHILDREN WHO DESPERATELY NEED
IT.
FOR EXAMPLE, MANY PEDIATRICIANS
ARE UNAWARE OF HOW LYMPHADEMA
CAN MANIFEST IN A CHILD OR HOW
TO MANAGE IT EFFECTIVELY: THIS
IMPACTS THE CARE THESE CHILDREN
RECEIVE AND THEIR LONG TERM
OUTCOMES.
FOR THE SAKE OF TIME, I WILL GO
QUICKLY THROUGH MY NEXT TWO
POINTS.
ACCESS TO TREATMENT IS ALSO AN
ISSUE.
WITHOUT PROPER TREATMENT,
CHILDREN FACE SEVERE
CONSEQUENCES SUCH AS
PSYCHOLOGICAL DISTRESS, OR THE
PEE TICK ISSUES,
LIFE-THREATENING INFECTIONS LIKE
CELLULITIS OR THE POSSIBILITY OF
DEATH.
AND WE HAVE SEEN THIS FIRSTHAND.
AND THE TREATMENT THAT THEY'RE
NEEDING ACCESS TO IS COMPLETE
DEACON JESSTIVE THERAPY THAT IS
NOT THE ADULT PRESCRIPTION, I
GUESS YOU WOULD SAY, BUT THE CDT
FOR CHILDREN BECAUSE THAT IS
SPECIALIZED FROM WHAT THEY LEARN
IN COURSES TO TREAT ADULT
LYMPHADEMA.
AND FINALLY, RESEARCH GAPS,
PEDIATRIC PRIMARY LYMPHADEMA IS
RARE AND THIS RARITY CREATES A
FUNDING GAP WE AS BFF, WE
RECEIVE REFERRAL FROM LEADING
HOSPITALS IN THE COUNTRY BECAUSE
WE HAVE SOME RESOURCES THAT THEY
ARE NOT ABLE TO PROVIDE, SO WE
SEE THAT EVEN CENTERS OF
EXCELLENCE, INSTITUTIONS THAT
PARENTS EXPECT TO HAVE THE
ANSWER, THEY REFER TO US BECAUSE
WE HAVE A SPECIALTY WE CAN
PROVIDE TO THEM.
WHAT WE REALLY NEED ARE
DESIGNATED CENTERS FOR BORT
TREATMENT AND EDUCATION THAT CAN
ADDRESS THESE GAPS AND GIVE
THESE FAMILIES HOPE.
THERE IS HOPE.
SO BY USING RESEARCH AND CASE
STUDIES TO CREATE ACCESSIBLE
EFFECTIVE EDUCATIONAL RESOURCES
WE CAN BUILD AWARENESS IN
MEDICAL TRAINING CENTERS AND
THIS WILL PLEAD TO EARLIER
DIAGNOSIS, BETTER MANAGEMENT AND
SUPPORT CHILDREN AND THEIR
FAMILIES DESERVE.
I BELIEVE WE DO HAVE ONE FINAL
SLIDE HERE.
>> YES, OUR THREE WISHES.
SO OF COURSE I THINK OVERALL
EVERYONE WISHES FOR A CURE, BUT
MOVING PAST THAT, I WOULD LOVE
TO SEE PEDIATRIC LYMPHADEMA
BECOME MORE OF A PRIORITY IN ALL
ASPECTS: AWARENESS, EDUCATION,
TREATMENT AND RESEARCH.
HAVING DOCTORS AND CLINICIANS
BETTER EDUCATE THEMSELVES ON THE
UNIQUE NEEDS OF THESE PATIENTS
WOULD TRULY MAKE A SIGNIFICANT
DIFFERENCE IN OVERALL PATIENT
OUTCOMES.
AND MOST IMPORTANTLY, I WISH TO
CONTINUE PROVIDING FOR THESE
AMAZING LYMPHADEMA WARRIOR, BUT
OUR ORGANIZATION CANNOT DO IT
ALONE.
COLLABORATION IS KEY AND I HOPE
THAT MORE OF THE MEMBERS OF THIS
COMMUNITY WILL JOIN US IN
ADVANCING OUR MISSION.
THANK YOU VERY MUCH FOR YOUR
TIME AND ATTENTION.
>> THANK YOU AGAIN FOR EVERYONE.
THIS WAS THE LAST PRESENTATION.
SO I'M GOING TO PASS THE MIC TO
DR. STANLEY ROCKSON FOR OPENING
THE CLOSING DISCUSSION.
>> THANK YOU, SELEN.
I WANT TO SAY A PROFOUND WORD OF
THANKS, REALLY TO EVERYONE WHO
HAS CONTRIBUTED THIS MORNING.
THIS HAS BEEN AN EXTRAORDINARILY
INSIGHTFUL PROGRAM.
I'D LOVE TO ACKNOWLEDGE OUR
HEALTHCARE PROVIDERS,
CLINICIAN-SCIENTISTS, AND
SCIENTISTS WHO HAVE PROVIDED
THEIR INSIGHTS, HAVING DEDICATED
MUCH OF THEIR PROFESSIONAL LIVES
TO THIS PATIENT POPULATION, BUT
AS A CLINICIAN WHO ALSO TAKES
CARE OF THIS CATEGORY OF PATIENT
AND THIS BROAD ARRAY OF
LYMPHATIC CHALLENGES, I
ESPECIALLY WANT TO COMMEND THE
FAMILY MEMBERS AND ADVOCATES WHO
HAVE SPOKEN TO US TODAY.
YOUR DEDICATION, YOUR UNFAILING
COURAGE ARE EXTRAORDINARILY
COMMENDABLE, BUT MOST
IMPORTANTLY, I HAVE TO SAY, YOUR
MEDICAL INSIGHTS AND YOUR
VOCABULARY AND YOUR ABILITY TO
ADDRESS THE CHALLENGES SO FAR
OUTSTRIPS MOST OF THE MEDICAL
COLLEAGUES THAT I INTERACT WITH
ON A DAY-TO-DAY BASIS.
I'M TRULY PROFOUNDLY IMPRESSED.
I'D LIKE TO START ASKING A VERY
GENERAL QUESTION TO ALL OF OUR
PARTICIPANTS.
YOU'VE BEEN VERY GENEROUS IN
SHARING YOUR WISH LISTS WITH US.
AT THIS POINT, I'D LOVE TO TAP A
LITTLE MORE HEAVILY INTO YOUR
VISION, WHICH IS TO SAY IN YOUR
WILDEST DREAMS, IF THESE WISH
LISTS COULD BE ADDRESSED AND
ACCOMPLISHED, WHAT DO YOU
IMAGINE ARE THE ROOTS THAT WE AS
A COMMISSION CAN FOLLOW TO MAKE
YOUR WISHES COME TRUE?
HELP US UNDERSTAND HOW YOU
INVIYOUENVISION THE FUTURE AND E
CAN DO TO HELP YOU ACCOMPLISH
WHAT YOU'VE NOT BEEN ABLE TO
ACCOMPLISH ON YOUR OWN.
SO I'D LOVE TO HEAR FROM ANYBODY
WHO'S READY TO ADDRESS THAT
QUESTION.
>> I WILL HELP.
BRITTANY, GO AHEAD.
>> SO I THINK ONE OF THE THINGS
THAT WILL REALLY HELP ALL OF US
IS, AGAIN, WORKING TOGETHER.
HAVING MORE OF THESE
CONVERSATIONS, HEARING FROM
PATIENT ADVOCATES, HEARING FROM
PARENTS THAT ARE IN THE DAY TO
DAY STRUGGLES.
JUST IN THE COMMUNITY THAT WE'VE
BUILT THROUGH BRYLAN'S FEAT
FOUNDATION, I HAVE LEARNED SO
MUCH JUST FROM HEARING FROM
OTHER PARENTS, HEARING ABOUT THE
STRUGGLES, THE TRIUMPHS, SEEING
WHAT HAS WORKED AS EACH CHILD IS
A LITTLE BIT DIFFERENT.
AND JUST, AGAIN, COLLABORATION,
WORKING TOGETHER.
THERE IS NO REASON WHY WE ARE,
EVEN AS NON-PROFITS OR OTHER
ORGANIZATIONS AND NETWORKS, THAT
WE'RE NOT COMBINING OUR EFFORTS
AND MOVING FORWARD FOR THIS
PATIENT POPULATION.
>> THANK YOU, BRITTANY.
JEN AND KEVIN?
>> YEAH, I THINK IF THERE COULD
BE ONE THING THAT I WOULD REALLY
ASK THE COMMISSION TO MOVE
FORWARD ON, IT WOULD START WITH
EDUCATION AT THE MEDICAL SCHOOL
LEVEL, AND EDUCATION ON LIX
LYMPHATICS, POSSIBLY AS A
SEPARATE DISCIPLINE WITHIN THE
MEDICAL COMMUNITY.
THE FACT THAT WE'RE ALWAYS UNDER
THE UMBRELLA OF OTHER DISEASES
WHICH ARE ALWAYS GOING TO TAKE I
THINK MORE IMPORTANCE RELATIVEY
IN THE DEPARTMENTS THAT THEY'RE
UNDER, THE LYMPHATICS ARE ALWAYS
PUT TO THE SIDE AND WE ARE NOT
EABL TO BE HEARD IN PART BECAUSE
NO ONE REALLY CARES OR KNOWS.
SO IT'S JUST SOMETHING WHERE
UNLESS THAT IS PRIORITIZED AT
SOME POINT AT A MORE NATIONAL
LEVEL OR INTERNATIONAL LEVEL BUT
MORE IMPORTANTLY JUST WITHIN THE
MEDICAL DISCIPLINE ITSELF, I
DON'T THINK THINGS WILL REALLY
BE CHANGED THAT MUCH.
BECAUSE UNFORTUNATELY, JUST
BASED ON THE NUMBERS, WE'RE JUST
NOT THE SAME AS OTHER DISEASES.
AND OTHER DISEASE GROUPS.
FROM THAT STANDPOINT, THAT WOULD
BE MY GREATEST CONCERN.
THANK YOU.
>> THANK YOU.
DENISE, I THINK YOU HAD YOUR
HAND UP.
>> YEAH, I TOTALLY AGREE WITH
THAT.
BUT I THINK IT NEEDS TO BE MORE
THAN JUST MEDICAL STUDENTS.
I MEAN, I THINK YOU NEED TO GO
TO THE NURSING SCHOOLS.
I THINK YOU NEED TO GO TO THE
GRADUATE PROGRAMS, THE PH.D.
PROGRAMS, BECAUSE YOU HAVE TO
GET PEOPLE EXCITED AND INVOLVED.
WE HERE AT PENN STARTED A RARE
DISEASE ELECTIVE.
IT'S BEEN HARD MOVING IT FORWARD
BECAUSE IT'S JUST MYSELF AS
THEIR ADVISOR AND MEDICAL
STUDENTS, AND WE HAVE A COUPLE
OF THOUSAND DOLLARS THAT WE HAVE
WHEN THEY'RE HAVING LECTURES TO
GET PIZZA SO PEOPLE CAN COME,
AND WE'VE INNERVATED THE NURSING
SCHOOL AND THINGS LIKE THAT, BUT
I THINK WE HAVE TO GO TO THE
DEANS AND WE HAVE TO GO TO OTHER
PEOPLE, BUT WE HAVE TO DO ALL OF
HEALTHCARE, BECAUSE YOU KNOW,
WE'RE HAVING MORE NURSE
PRACTITIONERS WORK WITH US.
WE'RE HAVING OTHER PEOPLE WORK
WITH US.
AND I THINK IT NEEDS TO BE
THROUGHOUT HEALTHCARE.
>> DENISE, JUST A FOLLOW-UP
QUESTION.
AS A COMMISSION, WE HAVE
CONVENED SEVERAL ORGANIZATIONS
TO ADDRESS THIS EDUCATION
QUESTION.
WE HAVE HAD THE ASSOCIATION OF
AMERICAN MEDICAL COLLEGE, WE
HAVE REACHED OUT TO SEVERAL OF
THE SPECIALTY GROUPS LIKE THE
AMERICAN ACADEMY OF PEDIATRICS,
AMERICAN ACAMERICAN ACADEMY OF Y
PRACTICE, AMERICAN COLLEGE OF
SURGEONS, ET CETERA.
ANY IDEAS ABOUT ADDITIONAL
RESOURCES OR CONTACTS WHERE WE
CAN BEGIN TO KINDLE THIS OR AT
LEAST GATHER INFORMATION ABOUT
WHAT THE PATH IS TO RECTIFY SOME
OF THE INEQUITIES THAT WE'RE
TALKING ABOUT?
>> SO I WOULD ALSO GO TO ASH,
THE AMERICAN SOCIETY OF
HEMATOLOGY.
I WOULD GO TO THE AMERICAN
SOCIETY OF PEDIATRIC KEMONK
BECAUSE WE ACTUALLY HAVE -- AND
AGAIN, VASCULAR ANOMALIES, I
THINK YOU HAVE TO INCLUDE
VASCULAR ANOMALIES BECAUSE, YES,
YOU HAVE YOUR ISOLATED LYMPHATIC
DISORDERS, BUT YOU ALSO HAVE
THESE DISORDERS THAT HAVE A
LYMPHATIC COMPONENT TO THEM,
WHICH IS A BIG COMPONENT.
BUT WE HAVE VASCULAR ANOMALIES
IN OUR BOARDS NOW FOR PEDIATRIC
HEMONC.
WE OVER THE YEARS HAVE REALLY
PUSHED TO HAVE THAT BE A HOME
FOR PEOPLE WITH VASCULAR
ANOMALIES, SO WE'RE TRYING TO
INFILTRATE INTO ASH FOR THE
OLDER PATIENTS AS WELL.
I WOULD ALSO GO TO THE DEANS OF
THE MEDICAL SCHOOLS, AND YOU
KNOW, THE DEANS OF EDUCATION.
I MEAN, YOU HAVE T TO INFILTRATE
IN THATTER AS THAT AREAS AS WEE
NURSING SCHOOLS.
WHEN WE FIRST STARTED THIS
ELECTIVE, THE DEAN WAS REALLY
UNCERTAIN OF HOW IT WOULD GO,
AND IT'S REALLY BEEN A VERY
POPULAR ELECTIVE THAT THEY
ACTUALLY NOW CAN HAVE COURSE
CREDIT FOR IT, WHICH HE NEVER
EXPECTED WOULD EVER HAPPEN.
SO I THINK POOLING THOSE PEOPLE
AS WELL IS VERY, VERY IMPORTANT,
AND AGAIN, PAs, NPs, ALL OF
THE PEOPLE THAT ARE GOING TO
TAKE CARE OF THESE PATIENTS.
>> THANK YOU.
THOSE ARE GREAT SUGGESTIONS
WHICH WE WILL IMPLEMENT IN OUR
REPORT.
>> STAN, I CAN SEE SOME OF YOU
RAISING HANDS.
KAREN ALSO TEXTED ME THAT SHE
CANNOT RAISE HER HAND, JUST TO
LET YOU KNOW.
KAREN?
>> SELEN, I'M GOING TO ASK YOU
TO POINT TO PEOPLE BECAUSE IT'S
HARD FOR ME TO SEE.
>> YES, NO PROBLEM.
KAREN, IF YOU CAN SPEAK NOW,
PLEASE DO.
OKAY.
>> THANK YOU.
YEAH, I DIDN'T SEE THE LITTLE
ICON.
I'M SURE IT WAS THERE.
>> NO PROBLEM.
>> THANK YOU.
I THINK THOSE ARE REALLY GOOD
POINTS.
AND AND ONE ONE OF THE THINGS IS
THINKING ABOUT WAS TO GET A MIX
OF PEOPLE TOGETHER TO ACTUALLY
WRITE CURRICULUM OR MODULES THAT
WE COULD DISTRIBUTE TO THE
ACADEMIES, THE SCHOOLS, THE
NURSES, SCHOOL NURSES, ET
CETERA, AND ON THE THINGS THAT
DO IMPACT.
THE MEDICAL PART, THE RESEARCH
PART, THE FINANCIAL BURDEN ON
THE FAMILY, WAYS TO ADDRESS IT,
THAT TYPE OF THING.
BUT THE OTHER THING THAT I FOUND
REALLY FASCINATING ABOUT TODAY'S
MEETING IS HOW MANY SIMILARITIES
ARE THERE, AND THEN TO DO, IF WE
COULD, CONVENE RESEARCHERS
AND/OR CLINICIANS FROM ALL OF
THESE SYNDROMES OR DISEASES,
BRING THEM TOGETHER AND LET THEM
JUST SORT OF BRAINSTORM WHAT
THEIR GAPS ARE AND THEIR
CHALLENGES ARE, BECAUSE I'VE
LEARNED SO MUCH FROM THE OTHER
ORGANIZATIONS THAT I'M GOING TO
BRING BACK TO OUR FOLKS AND SO I
DON'T KNOW IF WE CAN DO THAT,
BUT I THINK THAT WOULD BE REALLY
HELPFUL TOO.
AND THEN MAYBE EVEN GET FUNDING
FOR AN AWARD AT THE NIH LEVEL
THAT WOULD PROMOTE THESE TYPES
OF CROSS-SECTIONAL AND
TRANSLATIONAL, YOU KNOW,
MECHANISMS.
>> THANK YOU, KAREN.
LINDSAY, WELCOME.
WE MISSED YOU.
THANK YOU SO MUCH FOR JOINING
US.
WE WOULD LIKE TO HEAR WHAT YOU
WANT TO SAY NOW.
AND IF YOU WANT TO ADD A COUPLE
OF POINTERS, YOU WANTED TO ADD.
>> THANK YOU.
YEAH, SO THIS MORNING, I
ACTUALLY MISSED THE FIRST HOUR
OF THE SESSION BECAUSE I WAS AT
A LYMPHADEMA THERAPY APPOINTMENT
LOOKING AT A LIMB THAT'S ON THE
VERGE OF CELLULITIS, AND AS
DR. ADAMS IN PARTICULAR WAS
ADDRESSING THIS QUESTION, I WAS
THINKING ABOUT INFECTIOUS
DISEASE PHYSICIANS AND HOW
THAT'S A PARTICULAR GROUP THAT
REALLY NEEDS FURTHER EDUCATION
ON LYMPHADEMA AND CELLULITIS.
I HAVE A WONDERFUL INFECTIOUS
DISEASE DOCTOR WHO HAS LEARNED A
LOT ABOUT MY CLOVES SYNDROME AND
MY LYMPHADEMA AND HOW MY
CELLULITIS BEHAVES WHEN IT
HAPPENS BECAUSE I HAVE
CELLULITIS INFECTIONS A COUPLE
TIMES A YEAR.
EVERY INFECTION PUTS ME IN THE
HOSPITAL FOR AT LEAST A WEEK
BECAUSE OF MY -- RISK AND I'VE
HAD TO HAVE FASCIOTOMIES BECAUSE
OF COMPARTMENT SYNDROME, SO
EVERY HOSPITALIZATION IS A
SIGNIFICANT AMOUNT OF TIME OUT
OF MY LIFE THAT I'M SPENDING IN
THE HOSPITAL, AND I'VE HAD
INFECTIOUS DISEASE DOCTORS IN
THE HOSPITAL NOT BELIEVE THAT I
AM HAVING A CELLULITIS INFECTION
BECAUSE MY CLOVES SYNDROME
BEHAVES DIFFERENTLY WHEN IT HAS
CELLULITIS THAN A TYPICAL
CELLULITIS PATIENT.
MY LIMBS ALWAYS LOOK DIFFERENT
THAN WHAT THEY WOULD EXPECT A
CELLULITIS LIMB TO LOOK LIKE,
AND SO I'VE HAD INFECTIONS IN
THE LAST COUPLE OF YEARS WHERE
INFECTIOUS DISEASE DOCTORS HAVE
CHANGED UP THE ANTIBIOTIC
REGIMEN, NOT BELIEVING I'M
HAVING CELLULITIS, WHICH THEN
ENDS UP WORSENING THE INFECTION
AND I SPEND ANOTHER WEEK IN THE
HOSPITAL.
AND SO I THINK INFECTIOUS
DISEASE IN PARTICULAR WOULD
REALLY BENEFIT FROM FURTHER
EDUCATION ON WHAT CELLULITIS CAN
LOOK LIKE IN PATIENTS WITH
LYMPHADEMA AND OVERGROWTH
DISEASES IN PARTICULAR, BECAUSE
OUR ANATOMY IN PARTICULAR OUR
SKIN DOESN'T BEHAVE IN THE SAME
WAY WITH CELLULITIS INFECTIONS
AS WHAT THEY ARE TAUGHT A
CELLULITIS INFECTION WILL BEHAVE
LIKE.
SO THAT'S ONE THING I WOULD LOVE
TO SEE, IS FURTHER EDUCATION FOR
INFECTIOUS DISEASE PHYSICIANS.
>> THANK YOU.
GRETCHEN?
>> I THINK ONE THING FROM A
PARENT'S PERSPECTIVE TO KEEP IN
MIND IS, AS YOU'RE DOING THESE
EDUCATION AND BUILDING UP THESE
HUBS, IS THAT IT'S NOT ACTUALLY
THAT EASY TO GET YOUR KIDS INTO
THESE HUBS.
SO UNLESS YOUR KID IS ON THE
VERGE OF PASSING AWAY, YOU
ACTUALLY CAN'T GET IN, AN SO AS
YOU'RE BUILDING THESE PROGRAMS
UP, YOU NEED TO MAKE SURE YOU
CAN SUPPORT THEM OR IT'S REALLY
NOT THAT VALUABLE TO DO SO.
IF YOU CAN'T GET YOUR CHILD IN
OR AN ADULT IN OR WHATEVER, IT'S
REALLY NOT THAT GREAT TO HAVE
THESE PROGRAMS THERE IF YOU
CAN'T SUPPORT THEM.
>> THOUSAND.
THANK YOU.
MELLENNEE?
YOU HAVE TO UNMUTE YOURSELF.
IT'S AT THE BOTTOM LEFT CORNER.
>> THERE WE GO.
MY SCREEN JUST FOLDED ABOUT THE
TIME THAT I DID THAT.
I'D LIKE TO GO BACK A LITTLE
BIT, IN ADDITION TO THE COLLEGES
AND UNIVERSITIES AND MEDICAL
SCHOOLS, I THINK WE SHOULD ALSO
INCLUDE THE PEOPLE THAT TRAIN ER
EMERGENCY TECHNICIANS, PEOPLE
THAT RESPOND, AMBULANCE SYSTEMS
AND PEOPLE IN THE EMERGENCY
ROOMS IN GENERAL, BECAUSE THAT
IS A BIG RISK TO A LOT OF THESE
PEOPLE.
I ALSO THINK THAT WE NEED TO
ADDRESS A LITTLE BIT ABOUT THE
ADMINISTRATORS OF THE HOSPITALS
THAT ARE A LITTLE BIT RESISTANT
TO GO TOWARD OUR SYNDROMES
BECAUSE WE ARE -- MOST OF US ARE
RARE AND WE'RE ALSO MESSY AND
COMPLEX.
I THINK IT WOULD HELP IF THE
NHLBI AND THE NATIONAL
INSTITUTES OF HEALTH WOULD
RECOGNIZE THAT THESE ARE RARELY
STANDALONE CONDITIONS.
THAT ONCE YOU HAVE LYMPHATIC
INVOLVEMENT, IT JUST REACHES OUT
AND TOUCHES EVERYTHING.
SO THE INDIVIDUAL FOCUS ON ONE
SYMPTOM IS A LITTLE FRUSTRATING.
I THINK MY FIRST NIH MEETING AND
THE OTHER PEOPLE HERE AROUND MY
AGE, AROUND 29, THAT HAVE ALSO
BEEN TO THOSE MEETINGS IN THE
90s, AND WE TALKED ABOUT THIS
THEN, AND WE'RE STILL TALKING
ABOUT IT NOW.
I THINK WE DO A REALLY GOOD JOB
OF COMMUNICATING AND TRYING TO
WORK TOGETHER.
WE'RE ALL WILLING TO DO THINGS.
WE JUST NEED THE PERMISSION AND
SOMEBODY STRONG ENOUGH TO
REPRESENT US TO CARRY US THROUGH
ON THESE ISSUES.
SO I THANK YOU FOR THAT
OPPORTUNITY.
>> THANK YOU.
THANK YOU VERY MUCH.
ANIL?
>> SO I WOULD PROBABLY TAKE MORE
OF A STICK APPROACH RATHER THAN
THE CARROT APPROACH.
FOR MEDICAL EDUCATION, PART OF
THE REASON WHY CURRICULA
CHANGES, IF THE EXAM CHANGES,
RESIDENCIES, FELLOWSHIPS,
POSTGRADUATE EDUCATION, I WOULD
PROBABLY SAY THE BOARDS THAT
ACTUALLY WRITE THE EXAMS ALSO
NEED TO BE ADDRESSED, BECAUSE IF
IT'S ON YOUR EXAM AND YOU'RE NOT
GOING TO PASS YOUR EXAM BECAUSE
YOU DON'T KNOW THE INFORMATION,
OR RECOGNIZE OR THE SELL LIGHT
OR THE LYMPHADEMA OR THE
LYMPHATIC PROCESS, THEN THEY'RE
NOT GOING TO LEARN IT.
>> THANK YOU.
NOW BETTY?
>> GREAT TIMING, BECAUSE THIS
ACTUALLY PIGGY BACKS ON WHAT HE
WAS JUST MENTIONING ABOUT THE
BOARDS.
I WAS GOING TO RECOMMEND THE
ACCREDITATION BOARDS FOR THESE
INTERDISCIPLINARY TEAMS THAT
WOULD BE INVOLVED.
I KNOW ME SPECIFICALLY, I AS IN
THE PHYSICAL THERAPY DISCIPLINE,
I'VE HEARD FROM MANY OF OUR DPT
STUDENTS WHO CONTACTED ME AFTER
THEIR BOARDS AND THANKED ME FOR
THE DAY OR TWO THAT THEY WERE
ABLE TO SHADOW IN CLINIC WITH ME
BECAUSE THE PT BOARD HAS ADOPTED
SOME LYMPHADEMA-BASED QUESTIONS
IN THERE, AND I REMEMBER
WHENEVER I WAS IN MY PROGRAM, WE
HAD A VERY, VERY SHORT
30-MINUTE, MAYBE AN HOUR,
LECTURE THAT WAS ACTUALLY
CELLULITIS, BUT BECAUSE OUR
INSTRUCTOR'S FATHER HAD HAD
SECONDARY LYMPHADEMA DUE TO
CARDIOVASCULAR ISSUES, SHE PIGGY
BACKED HIS LYMPHADEMA, HIS
SECONDARY LYMPHADEMA TO A
CELLULITIS, AND THAT'S WHERE I
HAD EVER EVEN HEARD OF
LYMPHADEMA AS A CLINICIAN.
SO I THINK GOING TO THE BOARDS
THAT ARE ACCREDITING THESE
PROGRAMS IS ONE WAY.
I AM IN THE APPLICATION
PREREQUISITE PROCESS FOR A
PHYSICIAN ASSISTANT PROGRAM HERE
IN ARKANSAS, AND I HAVE REACHED
OUT ACTUALLY TO -- THERE'S A PA
CONFERENCE THAT'S COMING AND I
JUST SUBMITTED SOME TOPICS TO
PRERPRESENT ON WHY LYMPHADEMA
EDUCATION WOULD BE INTERESTING
TO PAs, ESPECIALLY IN RURAL
ARKANSAS BECAUSE I THINK THIS IS
LIKE THE ARKANSAS PA CONFERENCE.
ANYWAY, SO I THINK HAVING SOME
GRASSROOTS ORGANIZATIONS LIKE
THAT WHERE WE SEND PEOPLE OUT,
LIKE IF THERE'S A COMMITTEE,
ITJUST TO EDUCATE, WHO LIKE TO
EDUCATE AND LIKE TO PRESENT,
COULD GO TO THESE DIFFERENT
CONFERENCES BECAUSE I'M NOT A PA
YET BUT I WANT TO BE A PA AND I
WANT TO EDUCATE THEM AS WELL.
ME AS A CLINICIAN, I'VE SHARED
THIS ON MY PODCAST MANY TIMES.
I ACTUALLY JUST TALK ABOUT
LYMPHADEMA IN JUST ABOUT EVERY
MEDICAL APPOINTMENT THAT I
PERSONALLY HAVE.
SO OB-GYN, WE TALK ABOUT
LYMPHADEMA.
WHEN I WAS PREGNANT AND BEING
ULTRASOUND -- AN ULTRASOUND
TECH, I WOULD TALK TO THEM ABOUT
SEEING ULTRASOUND LYMPHADEMA IN
ULTRASOUNDS FOR UNBORN BABIES.
I'VE TALKED ABOUT IT AT THE
DENTIST, I'VE BEEN PULLED OVER
BY AN OFFICER AND I ASKED HIM IF
HE'S EVER PULLED OVER ANYONE
WEARING A COMPRESSION GARMENT.
I THINK IF WE BRING IT UP OFTEN
ENOUGH, IT GOING TO CLICK.
I'VE BEEN INVITED BACK BY
CLINICS AND OFFICES TO SPEAK TO
THEIR STAFF JUST AFTER BRINGING
IT UP AT A REGULAR DOCTOR'S
APPOINTMENT OF MY OWN.
SO I THINK THERE'S A WAY WE CAN
ADVOCATE INDIVIDUALLY, BUT I
THINK THAT IF WE WERE ABLE TO
CREATE A COMMITTEE THAT
SPECIFICALLY SOUGHT OUT
EDUCATION OPPORTUNITIES LIKE
THIS AND CONTACTED BOARDS AND
HAD DIFFERENT DISCIPLINES
WORKING IN THAT, I THINK THAT
YOU COULD HAVE GOOD SUCCESS IN
THAT.
>> THANK YOU, BETTY.
LAST ANSWER FROM JEN AND KEVIN,
AND I'M GOING TO PASS IT BACK TO
YOU, STANLEY, AFTER THAT.
>> I THINK WHEN WE'RE TALKING
ABOUT HOW TO GET INCREASED
ATTENTION ON LYMPHATIC DISEASE
AT AN EDUCATION LEVEL, WE'RE ALL
PART OF THE SPECTRUM OF
LYMPHATIC DISEASE HERE ON THE
PANEL TODAY AND THE DIFFERENT
CONDITIONS THAT WE REPRESENT,
BUT IF WE WANT TO LEARN MORE
ABOUT LYMPHATIC DISEASE,
LYMPHATIC DISEASE CAN ACTUALLY
TEACH US MAINLY ABOUT NORMAL
FUNCTION OF LYMPHATICS, AND
THAT'S MAYBE THE AVENUE WE NEED
TO TAKE.
THE OTHER THING I WAS THINKING
JUST WHILE WE'RE TALKING IS,
LYMPHATICS ARE THE MAIN
COMPONENT OF THE IMMUNE SYSTEM,
SO EVEN GETTING IMMUNOLOGY
INVOLVED WITH THE GREATER NEED
FOR LYMPHATIC RESEARCH IS AN
IDEA.
BUT ANYWAY, THANK YOU.
THAT'S ALL I HAD TO SAY.
>> THANK YOU.
STAN, BACK TO YOU.
>> THANK YOU.
VERY PERCEPTIVE COMMENTS,
EVERYONE, ABOUT THE MEDICAL
EDUCATION PROCESS.
I JUST WANT TO UNDERSCORE THE
FACT THAT WE ALL AGREE THAT THE
CERTIFYING EXAMINATIONS ARE A
SUPERHIGHWAY TO AN INCREASE IN
KNOWLEDGE.
THE ISSUE THAT IS INVOLVED IS
GETTING THE INDIVIDUALS WITHIN
EACH OF THE SOCIETIES WHO WRITE
THOSE CERTIFYING EXAMINATIONS TO
BE OPEN TO INCLUDING THESE
QUESTIONS, AND WE HAVE SEEN IT
IN MY PERSONAL DISCIPLINE OF
CARDIOVASCULAR MEDICINE.
WE DO NOW HAVE QUESTIONS ON THE
LYMPHATIC SYSTEM ON THE
CERTIFYING EXAM, BUT WE REALLY
NEED ACCESS TO THE APPOINTING
COMMITTEES THAT WILL PLACE THESE
INDIVIDUALS ON THE CERTIFYING
EXAM WRITERS COMMITTEE SO THAT
WE IN TURN INSTIGATE THIS
PROCESS.
SO ANYBODY WITH ANY INSIGHTS
INTO HOW TO ACCOMPLISH THAT
WITHIN EACH OF THE REALMS THAT
WE'RE TALKING ABOUT, THIS WILL
BEBE VERY, VERY USEFUL.
I WANTED TO ASK A VERY SPECIFIC
QUESTION OF DR. SHULSA COLAND.
THANK YOU VERY MUCH, YOUR
COMMENTS WERE REALLY PERCEPTIVE
AND I'M VERY IMPRESSED WITH THE
STEPS THAT VASCER NHAS TAKEN
PREDOMINANTLY IN THE EUROPEAN
SETTING BUT ACTUALLY THROUGHOUT
THE WORLD, AND I WONDER IF YOU
COULD ADDRESS A LITTLE BIT OF
THE WAYS WITH OUR COMMISSION
COULD FURTHER INTERACT WITH YOU
AND WITH ISSVA TO TRY TO SEE
WHAT LESSONS WE CAN LEARN FROM
THE STEPS YOU'VE TAKEN SO THAT
WE CAN ADDRESS SIMILAR
APPROACHES AND RECOMMENDATIONS
TO THE ADVISORY COUNCIL FROM
THIS COMMISSION.
>> THAT'S A HUGE TASK.
FIRST OF ALL IT'S A SLOW
PROCESS.
WE STARTED WITH THE NETWORKS I
THINK SEVEN YEARS AGO.
YOU'RE REALLY SUPPORTED BY THE
EU.
SO IT'S NOT JUST VASCERN.
WITH THE 55 HOSPITALS, WE'VE GOT
ABOUT 900 HOSPITALS INVOLVED IN
THIS.
WHAT I'VE FOUND OUT, I KNOW A
LOT OF PEOPLE WILL NOT ACCEPT
THAT, BUT THESE THINGS ARE
REALLY MONEY-DRIVEN.
SO THE MOMENT YOU'VE GOT GRANT
OPPORTUNITIES AVAILABLE FOR
EXPERT GROUPS, THEY ARE GETTING
INTERESTED.
SO THINK THIS IS ONE WAY OF
ORGANIZING THINGS OR DIRECTING
THINGS, THAT'S NUMBER ONE.
THE SECOND THING IS, YOU REALLY
NEED TO INVOLVE PATIENT
ORGANIZATIONS.
WHAT WE BASICALLY DID IS NOT
ONLY AT VASCERN LEVEL BUT ALSO
THE E.U. LEVEL, THE OVERARCHING
PATIENT ORGANIZATION IS HIGHLY
INVOLVED IN THE WHOLE SETUP OF
ALL THOSE NETWORKS.
WE'LL INVEST IN ITSELF WITH --
THE DOCTORS IN THE GROUP ITSELF,
SO THAT ALSO HELPS AND ALSO
STEERS THE WAY THE BASIC
RESEARCH OR THE EDUCATION IS
GOING.
TALKING ABOUT EDUCATION, WE JUST
FINISHED -- IN EUROPE WE HAVE A
PROGRAM THAT'S CALLED ERASMUS
COURSES, ALSO SET UP BY THE E.U.
AND FUNDED BY THE E.U. AND WHERL
THE UNIVERSITIES CONTRIBUTE AND
BASICALLY IF SUCH A COURSE IS
STARTED BY A GROUP, THEN YOUNG
PHYSICIANS AND WHOEVER CAN
BASICALLY APPLY TO TAKE THAT
PART IN THAT COURSE.
WE TOOK ABOUT TWO WEEKS WHERE --
BASICALLY INVITE TODAY ATTEND
THAT COURSE RECOVERED BY E.U.
IT GAVE US THE OPPORTUNITY TO
REALLY SPEND TWO WEEKS WITH THEM
AND TO REALLY MAKE THEM
KNOWLEDGEABLE -- BUT YOU
BASICALLY HOPE IF THEY GO BACK
TO UNIVERSITIES, AND IF THEY
START A CAREER, THEY'RE
BASICALLY GETTING INVOLVED WITH
OUR PATIENT POPULATION.
ABOUT HOW WE COULD START THINGS,
AGAIN I FEEL THE INVOLVEMENT OF
PATIENT ORGANIZATIONS IS
ABSOLUTELY ESSENTIAL AND THEY
SHOULD BE PART OF EVERYTHING
BASICALLY WHAT WE'RE DOING.
THEY SHOULD BE PART OF EVERY
TASK FORCE.
WHAT I LEARNED TO T TODAY IS A F
THE PATIENT ORGANIZATIONS IN THE
UNITED STATES REALLY
KNOWLEDGEABLE SO THEY REALLY
KNOW WHAT THEY'RE DOING BUT THE
MAIN PROBLEM WILL BE HOW ARE
THEY GOING TO MAINTAIN THEIR
SOCIETY.
IT'S OFTEN DEPENDING ON A SMALL
NUMBER OF PEOPLE, REALLY
ENTHUSIASTIC TO PUSH THIS
FORWARD, BASICALLY BEING PART OF
THE LARGE ORGANIZATION IS A MUCH
BETTER WAY TO TAKE CARE OF THAT
SUSTAINABISUSTAINABILITY IS SET.
>> THANK YOU.
YOU KNOW, I WANT TO UNDERSCORE
THE FACT THAT THE REPORT THAT WE
ARE GENERATING THAT WILL PASS
THROUGH THE ADVISORY COUNCIL OF
NHLBI FOR ITS RATIFICATION,
ULTIMATELY THIS MESSAGE IS
INTENDED FOR THE U.S. CONGRESS,
WHICH HAS ASKED THAT THIS
COMMISSION BE CONVENED IN THE
FIRST PLACE, SO IN THE PLACE
THAT VASCERN WAS SUPPORTED BY
THE E.U., WE HOPE WE WILL
RECOMMEND WHAT WILL BE SUPPORTED
ULTIMATELY BY THE U.S. FEDERAL
GOVERNMENT, WHICH MEANS THAT IF
WE CAN USE YOUR ACTIVITY AS A
TEMPLATE OR ROLE MODEL FOR WHAT
WE MIGHT RECOMMEND, IT WOULD BE
REALLY USEFUL.
SO I HOPE WE PERHAPS CAN
CONTINUE THESE DISCUSSIONS
OFFLANE TO SEE IF WE CAN LEARN
MORE ABOUT THE EXACT PATH THAT
YOU FOLLOWED IN THESE VARIOUS
ENDEAVORS.
THANK YOU VERY MUCH.
>> OKAY.
>> THANK YOU.
STAN, ALEXA IS RAISING HER HAND,
OUR NCLD MEMBER.
ALEXA, GO AHEAD.
>> I'M A LYMPHADEMA PATIENT AND
I SERVE ON THE COMMISSION AND ON
TWO OF THE SUBCOMMITTEES WHICH
INCLUDES PATIENT TOOLS AND
COMMUNITY GROWTH, AND ONE OF THE
QUESTIONS WE'RE REALLY GRAPPLING
WITH AND WE ASKED THIS AT THE
LAST TOWN HALL TOO IS, HOW ARE
YOU REACHING THE PEOPLE IN THESE
PATIENT COMMUNITIES WHO DON'T
EVEN KNOW THEY'RE A PART OF THE
COMMUNITY YET?
LIVING WITH THESE LYMPHATIC
DISEASES IS SO OFTEN ISOLATING
AND AS EVERYONE EXPRESSED
ALREADY, IT'S SO HARD TO EVEN
GET TREATMENT OR DIAGNOSIS, WHAT
ABOUT FINDING COMMUNITY, WHAT
ARE SOME EFFECTIVE WAYS YOU'VE
DONE OUTREACH TO THE PEOPLE WHO
MAY NOT KNOW THEY HAVE A
COMMUNITY YET?
>> ANYONE?
YOU LINDS
>> LINDSAY, GO AHEAD SPHWHR. OUR
COMMUNITY, CLOVES SYNDROME
COMMUNITY, HAS BEEN USING SOCIAL
MEDIA TO A WHILE.
WE HAVE A GREAT FACEBOOK PAGE
THAT IS FOR OUR PARTICULAR
COMMUNITY, AND THEN WE USE
INSTAGRAM TO TRY TO REACH OUT TO
OTHER PEOPLE AND WE'VE RECENTLY
STARTED A TIK TOK PAGE, AND IT'S
BEEN REALLY INCREDIBLE TO SEE
THE AMOUNT OF PEOPLE THAT HAVE
BEEN DIAGNOSED WITH CLOVES OR
THEIR CHILDREN HAVE BEEN
DIAGNOSED WITH CLOVES AND THEY
HAVE GONE TO SOMEWHERE LIKE TIK
TOK TO SEE IF THEY COULD FIND
ANYONE THAT HAS THE DISEASE AND
THEY HAVE FOUND OUR COMMUNITY
THAT WAY, AND THAT'S BEEN A
REALLY NEAT WAY FOR OUR
COMMUNITY TO GROW AND FOR PEOPLE
TO RECOGNIZE THAT THEY DO HAVE
COMMUNITY.
SO WE'RE ABLE TO USE THIS
VIRTUAL SPACE IN ORDER TO HELP
PEOPLE HAVE SOLIDARITY, AND
THAT'S BEEN ONE OF THE REALLY
POSITIVE BENEFITS OF UTILIZING
SOCIAL MEDIA FOR US.
>> THANK YOU.
JEN AND KEVIN.
>> SO WHAT WE DID IS DRAFTED A
LETTER TO OUR DOCTOR THAT
OVERSEES ALL THE PATIENTS
BASICALLY IN CANADA THAT HAVE
SIMILAR DISEASE, AND HE WAS ABLE
TO HAND THEM OUT TO THE PATIENTS
BECAUSE HE COULD NOT GIVE US
THEIR INFORMATION BECAUSE THE
DOCTOR-PATIENT CONFIDENTIALITY,
OF COURSE, AND THEN FROM THERE,
THOSE PATIENTS WERE ABLE TO
RECOGNIZE THAT THERE WAS SOMEONE
IN CANADA AND THEY CONTACTED US
THROUGH THAT.
WE ALSO HAVE OUR WEBSITE AND
THEN WE TRY AND DO AS MANY TALKS
AS WE CAN JUST TO GET OURSELVES
OUT THERE.
>> THANK YOU.
MELLENNEE?
>> WE'VE BEEN ON SOCIAL MEDIA
FOR A LONG TIME BUT I FIND THAT
THAT SKIPS AN AWFUL LOT OF
PEOPLE BECAUSE NOT EVERYBODY
PARTICIPATES IN SOCIAL MEDIA.
WE TRY -- WE HAVE PHONE SUPPORT
THAT WE DO FROM OUR WEBSITE, WET
A LOT OF THAT, WE DO A LOT OF
EMAIL SUPPORT.
ONE OF THE ISSUE THAT I FIND, I
DON'T KNOW HOW MUCH THIS IS
SHARED, BUT THE SHIFTING
TERMINOLOGY MEANS THAT PEOPLE
HAVE TO KNOW WHAT TO LOOK FOR IN
ORDER TO SEARCH YOU OUT.
IF THEY DON'T KNOW THAT YOU HAVE
NOW INSTEAD OFICALLY PEL -- OR
PROS, THE DOCTORS ARE NOT GIVING
THIS INFORMATION TO PATIENT.
WE DON'T HAVE A WAY TO
DISSEMINATE THAT.
SO IT'S KIND OF A -- IT'S KIND
OF A FRUSTRATING SITUATION FOR A
LOT OF PATIENTS, AND I HAVE A
LOT OF QUITE OLDER PEOPLE WHO
COME TO US AND, OH, I'M 42 YEARS
OLD AND JUST BEEN DIAGNOSED WITH
K-T WEBER SYNDROME.
WHICH IS A DETERMINE THAT HASN'T
BEEN USED SINCE THE 70s AND
80s.
SO WHAT I'M TELLING YOU IS WE
REALLY NEED TO GET CONSISTENT ON
THE TERMINOLOGY AND THEN MAKE
SURE THAT THAT'S DISSEMINATED
AND THAT WILL GO A LONG WAY
TOWARD HELPING PEOPLE I FINDING
THE HELP THAT THEY NEED.
BETTY?
>> SO IN THE PEDIATRIC
LYMPHADEMA CIRCLE, ONE OF THE
WAYS THAT WE HAVE BUILT
COMMUNITY, AND BRITTANY
MENTIONED THIS JUST BRIEFLY IN
HER OPENING STATEMENTS, SO WE
HAVE A SUMMER CAMP CALLED CAMP
WATCHME THAT WE HOST, AND OUR
SUMMER CAMP, IT'S SPECIAL AND WE
HOPE TO BE ABLE TO EXPAND TO
DIFFERENT REGIONS AND TO HAVE
MULTIPLES A YEAR, BUT SO FAR
WHAT WE'VE BEEN ABLE TO DO IS WE
HAVE THREE SESSIONS, SO FIRST
TIME FAMILIES WHO ATTEND WHO'VE
NEVER HAD MUCH INFORMATION ON
LYMPHADEMA, AND THEN WE ALSO
HAVE AN ALUMNI, SO THEY GET
EDUCATION AND THEY GET TO
INTERACT WITH EACH OTHER.
PARENTS GET EDUCATION, KIDS GET
TO BE KIDS AND THEN WE HAVE A
REUNION SESSION THAT IS A LITTLE
BIT MORE LAID BACK AND IT IS
MORE OF A REUNION, JUST HAVING A
VACATION WITH YOUR FRIENDS.
AND ALL OF THEM HAVE CLTs WHO
VOLUNTEER AND COME AND DONATE
THEIR TIME TO BE WITH THEM AT
CAMP.
WE HAVE PATIENT ADVOCATES, WE
CALL THEM PALs, SO THEY ARE
ADULTS WHO WERE CHILDREN ONCE
WITH LYMPHADEMA AND THEY GET TO
COME AND INTERACT AND ENGAGE
WITH THOSE KIDS.
ALEXA IS ACTUALLY ONE OF THOSE
WHO'S BEEN THERE WITH US FOR
MULTIPLE SUMMERS TO JUST SHOW
THAT IT CAN -- IT GETS BETTER
AND THEN THE CLTs, THEY BUILD
THE COMMUNITY AMONGST THE CLTs
AND THEN THE KIDS BUILD A
COMMUNITY AMONGST EACH OTHER,
PARENTS, THEY DIDN'T HAVE A
NETWORK OF SUPPORT THAT THEY CAN
LEAN ON AS THEY GO THROUGHOUT
THEIR YEAR.
BRITTANY AND I PERSONALLY TAKE
PHONE CALLS AND DO EMAILS.
AS MEDICAL ADVISOR, THAT'S
REALLY MY MAIN ROLE, JUST LIKE
BEING A EAR FOR A LOT OF THESE
PARENTS AND SOME OF THESE KIDS
WHENEVER THEY NEED IT.
AND THEY HAVE TAKEN IT AMONGST
THEMSELVES TO MAINTAIN THAT
COMMUNITY SO THE KIDS AND THE
PARENTS AND THE THERAPISTS, THEY
KEEP UP.
EVERY YEAR WE GROW IT.
THERE'S MORE FAMILIES COMING AND
ENGAGING OR IF THEY SKIP A
SUMMER, THEY COME BACK THE NEXT
SUMMER, THERE'S A WAVE OF NEW
PEOPLE THAT'S INVOLVED.
AND I HAD HEARD -- HAD LISTENED
TO MANY OF THE PRESENTATIONS
THIS MORNING AND THOUGHT IF
ANYONE IS INTERESTED IN LEARNING
FROM ME AND BRITTANY ON LIKE OUR
STRUCTURE FOR ANY OF THAT OR IF
YOU'D LIKE TO HOST YOUR OWN CAMP
FOR YOUR ORGANIZATION IN SOME
WAY, I'M HAPPY TO SHARE ANY
INFORMATION IF THAT'S SOMETHING
THAT YOU THINK THAT WOULD BE
HELPFUL.
IT DOESN'T HAVE TO BE A LONG --
IT'S LIKE A THREE-DAY,
FOUR-NIGHT CAMP.
IT COULD BE A SHORTER OVERNIGHT
STAY, BUT I'M HAPPY TO DISCUSS
THAT WITH ANYONE WHO WOULD THINK
THAT WOULD BE INTERESTING FOR
THEIR GROUP OF PEOPLE AS WELL.
>> THANK YOU, B BETTY.
LAST RESPONSE FROM DANA AND THEN
I'LL GIVE IT BACK TO YOU, STAN.
>> SO IN ADDITION TO OUR WEBSITE
AND OUR SOCIAL MEDIA SUCH AS
FACEBOOK, SUCH AS WE HAVE A
DISCORD GROUP SPECIFICALLY FOR
TEENS, K WE CREATED AN EDUCATIOL
BROCHURE, WE HAD ALL OF OUR
CONTACT INFORMATION ON IT AND WE
HANDED OUT A PAPER VERSION TO AS
MANY VASCULAR ANOMALY CENTERS
AND DOCTORS AS WE COULD.
AND WE ASKED THEM TO DISSEMINATE
THE BROCHURES IN THE HOPES THAT
PEOPLE WOULD REACH OUT TO US.
BECAUSE AT THE END OF THE TAI, ,
WE REALIZE THE BEST THING WE CAN
DO TO REACH OUT TO PEOPLE IS TO
PUT OURSELVES OUT THERE AND HAVE
THEM REACH OUT TO US.
>> THANK YOU.
STAN, BACK TO YOU.
>> THANK YOU.
WE HAVE JUST A COUPLE OF MINUTES
LEFT.
I REALLY WANT TO POSE ONE
ADDITIONAL QUESTION TO OUR
MEDICAL EXPERTS.
WE'VE HEARD A LOT THIS MORNING
ABOUT CHALLENGES RELATED TO
REPURPOSING OF DRUGS FOR
TREATMENT OF THESE RARE
DISORDERS AND DEVELOPMENT OF NEW
DRUGS.
I WONDER IF ANY OF OUR
REPRESENTATIVES TODAY CAN SPEAK
A LITTLE BIT TO THE INTERACTIONS
WITH THE FDA OR OTHER BARRIERS
THAT RELATE TO THE AVAILABILITY
OF THESE DRUGS, THE RESOURCES,
THE COST, THE REIMBURSEMENT,
ANYTHING THAT WE CAN LEARN ABOUT
THIS.
>> YES, DENISE.
>> SO THERE'S A LOT OF THINGS TO
CONSIDER WITH THAT, STAN.
SO BECAUSE MANY OF OUR DRUGS
WITH THE PATIENTS THAT HAVE THE
SOMATIC MUTATION ARE ONCOLOGIC,
WHEN WE GO TO THE FDA, WHETHER
YOU'RE GOING AS AN INVESTIGATOR
SPONSORED OR A PHARMACEUTICAL
SPONSORED,ING IF YOU GO TO THE
ONCOLOGY BRANCH, THEY WANT
ONCOLOGICAL END POINTS.
AND WE KNOW THAT WITH OUR
PATIENTS, I MEAN, HOW DO YOU
HAVE AN ONCOLOGICAL END POINT
THAT IS A VOLUMETRIC TEST
SHOWING A CENTRAL CONDUCTING
DISORDER, THE BEST THING YOU CAN
SEE IS DECREASE IN THE PLEURAL
EFFUSION OR DECREASE IN THE
ASCITES.
BUT VERY TO TO HAVE DIFFERENT
OUT COME MEASURES AND DIFFERENT
PRIMARY END POINTS, AND WE HAVE
A DIFFICULT TIME WITH THAT.
WE DON'T HAVE THE NCI, LIKE I GO
TO THE NCI EVERY THREE MONTHS
BECAUSE I'M ON THIS EDITORIAL
BOARD, AND THEY HAVE DRUGS THERE
THAT COME THROUGH THAT PEOPLE
GET IN PEDIATRIC ONCOLOGY.
WE DON'T HAVE THAT.
SO WE ARE SOMEWHAT AT THE MERCY
OF THE PHARMACEUTICAL COMPANIES,
AND I MEAN, YOU SEE WHAT
HAPPENED WITH OUR DRUG
ALPALASIV, CONDITIONALLY
APPROVED BY THE FDA, IT IS SO
EXPENSIVE.
SO WE KNEW RIGHT AWAY THAT THAT
WOULD BE LIKE THAT, SO WE HAVE A
TEAM OF PEOPLE THAT WRITE
LETTERS AND CALL, BUT NOT EVERY
CENTER HAS THOSE RESOURCES THAT
WE HAVE AT THE BIGGEST CENTERS
TO DO THAT, TO HELP WRITE
LETTERS AND CALL INSURANCE
COMPANIES AND TALK TO PARENTS
AND GIVE THEM GUIDANCE, YOU
KNOW?
AND THEN WHEN YOU HAVE SOMEONE
THAT -- THEY'RE TOLD THEY HAVE
TO PAY OUT OF POCKET A THOUSAND
TO $8,000 A MONTH, NO ONE COULD
DO THAT.
IT'S IMPOSSIBLE.
SO I THINK THERE ARE -- WE NEED
AN ARMAMENTARIUM OF DRUGS AND WE
NEED TO FIND A WAY, IT BEEN --
IT'S BEEN VERY HELPFUL THAT THE
PHARMACEUTICAL INDUSTRY IS
INTERESTED IN THESE RARE
DISEASES.
BUT IT WOULD BE SO HELPFUL IF WE
HAD SUPPORT AT THE NIH WITH ALL
OF THESE PERHAPS WITH MORE DRUG
TRIAL MONEY AND THINGS LIKE
THAT.
SO WE WERE AT THEIR MERCY.
I DON'T SAY THAT IN A BAD WAY
BECAUSE THEY'VE BEEN VERY
HELPFUL, AND IT'S OPENED UP.
THERE WILL BE MORE PIK3CA
INHIBITORS OUT THERE.
WE HAVE TO WORRY ABOUT LONG-TERM
USE, RIGHT?
IT'S THE SAME THING WITH LAM,
LIKE WHAT ARE THE LONG-TERM
EFFECTS?
WE HAVE TO WORRY ABOUT ALL THESE
THINGS THAT YOU DON'T HAVE TO
WORRY ABOUT IN ONCOLOGY AS MUCH.
SO THERE ARE MANY, MANY, MANY
ISSUES WITH ALL OF THAT.
WE ARE REPURPOSING DRUGS, WE ARE
GETTING OTHERS THERE.
IT IS A VERY SLOW PROCESS TOO.
AND AGAIN, NOT A LOT OF FUNDING
FOR THIS.
>> THANK YOU, DENISE.
THAT'S REALLY HELPFUL.
I THINK WE HAVE ONE MORE HAND UP
AND I THINK WE MIGHT BE AT --
>> I JUST WANTED TO DOVETAIL ON
WHAT DR. ADAMS WAS SAYING.
IF WE GET RID OF THE END POINTS
THAT ARE ABOUT MEASURING A MASS,
WE NEED TO REPLACE THOSE WITH
ALTERNATE END POINTS.
AND I THINK THAT WE DON'T
ACTUALLY HAVE GOOD THINGS TO
OFFER AND THAT MIGHT ACTUALLY BE
A BETTER FIT FOR THE NIH, IS
HELPING DEVELOP ALTERNATE
MEASURES RATHER THAN NECESSARILY
FUNDING.
TRIALS.
>> ANY LAST INSIGHTS ON FDA
DRUGS, DRUG DEVELOPMENT?
>> STAN, THERE █IS QUITE A BIT F
MESSAGING GOING AROUND IN THE
CHAT, AND EVERYONE IS BASICALLY
AGREEING THAT THE BIGGEST
BARRIER IS THE PHARMA'S
WILLINGNESS TO INVEST IN OUR
POPULATION.
THERE IS NO FINANCIAL INCENTIVE.
AND ALSO DOCT -- FROM NHLBI WAS
ASKING EVERYONE IF THEY
CONSIDER -- ARE THESE
ORGANIZATIONS CONSIDERING
PUTTING THEIR INFORMATION IN THE
NIH'S RARE DISEASES NETWORK, AND
IT IS ON THE CHAT.
YOU CAN SEE THE -- I CAN REPOST
IT, AND THAT'S IT.
>> WONDERFUL.
WELL, I THINK WE ARE COMING TO
THE END OF A REALLY
EXTRAORDINARY INFORMATIVE
ILLUMINATING SESSION.
I AM SO INCREDIBLY THANKFUL ON
BEHALF OF OUR ENTIRE COMMISSION,
AND MYCO-CHAIR, STEPH DREYER,
FOR EVERYBODY'S PARTICIPATION
HERE, YOUR HONESTY, YOUR
FORTHRIGHTNESS, AS I SAID
BEFORE, YOUR COURAGE AND YOUR
DEDICATION, THIS IS AN
EXTRAORDINARILY IMPORTANT TOPIC,
AND YOU HAVE HELPED US TO LEARN
A GREAT DEAL THAT I THINK WILL
BE EXTREMELY USEFUL FOR OUR
COMMISSION AND FOR THE REPORT
THAT WE WILL ULTIMATELY DELIVER.
SO THANK YOU VERY MUCH TO ALL OF
YOU WHO HAVE PARTICIPATED TODAY,
AND THANK YOU ALSO TO THOSE THAT
ARE PARTICIPATING ON THE
VIDEOCAST, AND ONCE AGAIN,
THANKS TO MY COULD-CHAIR, STEPH
DREYER.
>> THANK YOU, I WANT TO JOIN IN
WITH THE THANKS AS WE CLOSE THIS
FORUM, I WOULD LIKE TO EXPRESS
OUR HEARTFELT GRATITUDE TO
EVERYONE WHO JOINED US TODAY AS
PANELISTS, AND ALSO AS
LISTENERS, A SPECIAL THANK YOU
GOES TO ALL THE PATIENT
ORGANIZATIONS AND
REPRESENTATIVES WHO COURAGEOUSLY
SHARED THEIR EXPERIENCES.
IT WAS VERY MUCH APPRECIATED ON
OUR END, AND THIS WILL HELP US
ADVANCE OUR UNDERSTANDING OF
LYMPHATIC DISEASES AND IMPROVE
HEALTH AND CARE OF THOSE
AFFECTED.
WE ARE ALSO DEEPLY GRATEFUL TO
THE NCLD MEMBERS AND CO-CHAIRS
FOR THEIR LEADERSHIP AND FOR
FACILITATING TODAY'S
THOUGHT-PROVOKING DISCUSSIONS
WHICH WILL CONTRIBUTE
SIGNIFICANTLY TO COMMISSION
SUCCESS.
AND I WANT TO EMPHASIZE THAT
THIS IMPORTANT DISCUSSION IS
RECORDED AND WILL BE AVAILABLE
AT THE SAME LINK AND IT IS ALSO
STORED IN THE NCLD'S WEBSITE
ALONG WITH THE OTHER MEETINGS.
ADDITIONALLY, I WANT TO
ACKNOWLEDGE THE OUTSTANDING
SUPPORT PROVIDED BY THE NHLBI
TEAM, INCLUDING NHLBI
LEADERSHIP, EXTRAMURAL PROGRAM
STAFF AND TRANS-NIH LYMPHATIC
COORDINATION COMMITTEE AND NIH
VIDEOCASTING AND LAST BUT NOT
LEAST, NHLBI WORKSHOP SUPPORT
TEAM.
THEIR EFFORTS HAVE BEEN
INSTRUMENTAL IN SUCCESS OF ALL
THE NCLD MEETINGS.
THANK YOU, AND WITH THAT, THIS
MEETING ADJOURNS.
THANK YOU.