Colorado Voices: Ellie White

AND BACK UP.

>> I WANT PEOPLE TO KNOW THAT I AM A PERSON WITH A DISORDER.

BUT I DON'T LET IT STOP ME.

>> BEND FORWARD.

>> SHE IS INCREDIBLY BRAVE, AND I THINK PEOPLE, YOU KNOW, OFTEN DO NOT EVEN REALIZE SHE'S SUFFERING.

SOMETIMES I THINK SHE DOESN'T EVEN REALIZE THAT SHE'S SUFFERING.

>> THERE ARE PATIENTS WHO ARE SUFFERING FROM THE DISEASE, SO THERE IS CLEARLY UNMET NEED.

SO WE NEED TO DEVELOP A TREATMENT THAT CAN CURE THE DISEASE.

>> YOU GOOD?

>> YEP.

>> I FEEL LIKE I SEE HER DYING IN FRONT OF ME.

>> SO WE ARE RUNNING AGAINST TIME.

>> I WANT TO SHOW PEOPLE THAT LIFE IS STILL WORTH LIVING.

♪ [MUSIC PLAYING] >> I LOVE PLAYING THE PIANO, IT IS SUCH A TACTILE INSTRUMENT SO YOU DON'T NEED SIGHT TO DO IT.

IT IS SUCH A GOOD MEDITATION DEVICE OF MINE.

I AM ELLIE WHITE, I AM A 21-YEAR-OLD STUDENT A JUNIOR AT METROPOLITAN STATE UNIVERSITY OF DENVER, STUDYING MUSIC THERAPY.

OH I SHOULD DO THIS ONE.

I WANT TO DO SOMETHING THAT IS PART PSYCHOLOGY AND PART MUSIC.

I KNOW HOW IMPORTANT MUSIC IS TO PEOPLE.

AND I KNOW IT CAN HELP THEM.

TO MAKE THAT A JOB, IT'S JUST A DREAM TO ME.

>> ELLIE IS SUCH A BLESSING IN MY LIFE, SHE IS SMART AND GOT SUCH BEAUTIFUL INTEGRITY, ONE OF THE THINGS I ADMIRE MOST ABOUT HER, IS HOW SHE REALLY LETS NOTHING HOLD HER BACK.

>> SEE WHAT YOU CAN DO WITH THAT.

>> BUT THE REALITY IS THAT SHE DOES NOT HAVE A LIFE LIKE NORMAL PEOPLE.

WHAT DO YOU SAY?

>> HAPPY HALLOWEEN >> THAT'S RIGHT WHAT ARE YOU TODAY?

>> A BLUE BIRD.

>> I LIKE THAT.

>> WHEN I WAS THREE YEARS OLD I WAS DIAGNOSED WITH TYPE I JUVENILE DIABETES.

THAT'S WHY I HAVE THIS MONITOR THAT I WEAR.

IT HAS A TUBE AND NEEDLE THAT IS CONNECTED TO MY ARM, THAT I HAVE TO WEAR 24/7.

I HAVE TO MONITOR MY BLOOD SUGARS, HAVE TO CONTINUOUSLY GIVE MYSELF SHOTS AND INJECTIONS AND FINGER POKES.

>> WE ALWAYS ARE REALLY GOING BY THE SEAT OF OUR PANTS BECAUSE WHEN YOU HAVE A MEDICAL CONDITION, YOU JUST DON'T KNOW WHAT THE DAY IS GOING TO BRING.

WITH THE BLOOD GLUCOSE FOR INSTANCE, SHE MIGHT GO LOW, AND HAVING LOW BLOOD GLUCOSE IS SUPER DANGEROUS.

SO WE HAVE TO STOP WHATEVER WE'RE DOING AND TAKE CARE OF THAT.

IT DOES NOT MATTER WHAT WE ARE DOING.

WHERE WE ARE GOING, OR WHAT NEEDS TO BE DONE NEXT, AND THAT'S PERFECT BECAUSE THERE IS AN ALARM.

HER BLOOD GLUCOSE IS A PROBLEM RIGHT NOW.

SO, THEN I HAVE TO CHECK ON MY PHONE AND IT SAYS YOU ARE 65 SO I NEED TO GET YOU SOME JUICE OR SOME CHOCOLATE MILK OR SOMETHING.

WHAT CAN I GET YOU?

>> DO WE HAVE ANY CHOCOLATE MILK?

>> YES WE HAVE CHOCOLATE MILK.

WANT ME TO PUT IT IN A LITTLE CUP FOR YOU?

♪ [MUSIC PLAYING] >> THERE IS NOTHING WORSE AS A PARENT THAN TO SEE YOUR CHILD SUFFER.

SORRY SWEETIE.

AS A THREE-YEAR-OLD, I HAD TO POKE HER FINGER AND YOU KNOW MAKE BLOOD COME OUT, IN ORDER TO TEST HER BLOOD GLUCOSE AND WE DID THAT ABOUT EVERY OTHER HOUR AROUND THE CLOCK.

I WAS JUST SO DEVASTATED.

YOU KNOW, JUST REALLY OVERWHELMED, AND TRYING TO FIGURE OUT HOW ARE WE GOING TO COPE?

♪ [MUSIC PLAYING] >> SADLY, IT TURNED OUT THAT THAT WAS REALLY ONLY THE BEGINNING.

>> LATER IN LIFE WHEN I WAS ABOUT SEVEN, WE FOUND THAT NOT ONLY WAS MY VISUAL ACUITY POOR, BUT IT WAS NOT CORRECTABLE TO 2020.

>> WHILE I WAS SITTING WITH THE EYE DOCTOR, TRYING TO FIGURE OUT WHAT WAS GOING ON, HE GAVE HER THE LITTLE BOOK FOR COLORBLINDNESS, AND SHE AND HER BROTHER WERE LOOKING AT IT AND I COULD HEAR HER BROTHER WAS TALKING ABOUT NUMBERS THAT HE COULD SEE.

AND I COULD HEAR ELLIE SAY THERE'S NO NUMBERS THERE AND WHAT ARE YOU SEEING?

AND HE TURNED THE PAGES SAID THAT WAS 27 AND SHE SAID NO THERE'S NOTHING THERE.

I OVERHEARD THAT WAS LIKE OH MY GOODNESS, SHE'S DEVELOPED COLORBLINDNESS.

COLOR BLINDNESS IN GIRLS IS REALLY RARE, BUT IT'S ALSO EVEN MORE RARE FOR SOMEBODY TO NOT BE BORN WITH IT AND FOR THEM TO DEVELOP IT.

SO THIS WAS REALLY CONCERNING TO ME.

SO WE HAD TO DO A LOT OF TESTING AND IT TOOK A LOT OF TIME, BEFORE WE FINALLY GOT THE ANSWER, A GENETIC DIAGNOSIS.

>> WOLFRAM SYNDROME IS A DISORDER I WAS DIAGNOSED WITH 13 YEARS AGO.

>> WOLFRAM SYNDROME IS AN AUTOSOMAL RECESSIVE DISORDER WHICH MEANS THAT THERE ARE TWO GENES IN YOUR BODY, AND IF BOTH GENES ARE GOOD THEN YOU DON'T HAVE IT, AND IF YOU HAVE ONE MUTATION IN ONE OF THE GENES, AND NOT THE OTHER, THEN YOU ARE A CARRIER.

AND IF YOU HAVE TWO, SO ONE MUTATION IN ONE GENE AND ONE IN THE OTHER, THEN YOU HAVE WOLFRAM SYNDROME, AND IT'S AS SIMPLE AS TWO BASE PAIRS THAT ARE INCORRECT OUT OF THE ALMOST 4 BILLION THAT YOU HAVE IN THE BODY.

ESSENTIALLY I HAVE ONE THAT IS INCORRECT AND THAT MAKES ME FINE, BUT I'M A CARRIER.

WHEN ELLIE WAS BORN SHE GOT ONE MUTATED GENE FROM ME, AND ONE FROM HER FATHER.

>> WOLFRAM SYNDROME IS A RARE GENETIC DISORDER THAT CAUSES TYPE I DIABETES, PROGRESSIVE VISION LOSS, PROGRESSIVE HEARING LOSS, COORDINATION LOSS, AND EVENTUALLY BRAIN STEM AND BREATHING DIFFICULTIES.

EVENTUALLY MY BODY WILL JUST FORGET HOW TO BREATHE.

RESEARCH IS BEING DONE BUT THERE'S NO CURE OR TREATMENT.

IT IS A DEATH SENTENCE AND LIFE EXPECTANCY IS 30 TO 40 YEARS OLD.

AND THAT CAN BE REALLY HARD TO THINK ABOUT.

OF COURSE THIS WAS HEARTBREAKING TO MY MOM.

>> THIS DISORDER TAKES PEOPLE'S LIVES, IT TAKES THEIR FUTURE AND EVERYTHING FROM THEM.

IT'S AN INTERESTING COINCIDENCE THAT SHE WAS DIAGNOSED WITH A GENETIC DISORDER AND THAT'S SIMILAR TO THE RESEARCH THAT I DO.

I'M A MOLECULAR BIOLOGIST, I WORK AT CU THE HEALTH SCIENCE CENTER, I DO HIV RESEARCH, COVID RESEARCH, AND IT JUST MADE IT HIT REALLY CLOSE TO HOME.

BUT IT ALSO MADE ME FEEL MORE CHALLENGED TO TRY TO FIND A CURE AND TO REALLY JUMP INTO THE RESEARCH.

WOLFRAM SYNDROME WAS SO RARE THAT WHEN ELLIE WAS DIAGNOSED WITH THAT, THERE WAS NO RESEARCH BEING DONE ON IT, SO I REACHED OUT TO A WHOLE BUNCH OF RESEARCHERS THAT I THOUGHT MIGHT BE ABLE TO HELP AND DO SOMETHING THAT WAS SIMILAR, SOME SORT OF RESEARCH THAT WOULD BE HELPFUL.

AND I FOUND DR. URANO WHO WAS DOING WORK ON IT.

>> SO WHEN I WAS A VERY YOUNG DR., I WAS INVOLVED IN THE CARE OF A 17-YEAR-OLD BOY WITH A RARE FORM OF CANCER.

I PRESENTED HIS CASE IN FRONT OF ALL THE DOCTORS, AND PHYSICIANS AND A NURSE TOOK HIM FROM THE WARD INTO THE ROOM AND WE DISCUSSED HIS CASE.

HE WAS VERY SICK ALREADY.

WHEN HE WAS LEAVING THE ROOM, HE SMILED AT ME.

AND THAT REALLY STRUCK ME, I REALIZED A FEW MONTHS LATER HE PASSED AWAY VERY UNFORTUNATE HE HAD A RARE TYPE OF CANCER NO CHEMOTHERAPY WORKED OUT, HE PASSED AWAY.

HE WAS 17.

SO MY KIDS ARE 16, AROUND MY SON'S AGE.

AND I REALIZED I HAD TO STUDY MECHANISMS OF THE DISEASE TO TREAT THESE PATIENTS.

THERE WAS NO TREATMENT, SO WE NEED TO KNOW MORE ABOUT THE MECHANISMS.

AND WHILE I WAS WORKING AT NYU, I FOUND WOLFRAM.

I FOUND THE CLUE ABOUT THE MECHANISMS OF WOLFRAM, I WAS STUDYING PEDIATRIC CANCER BUT I FOUND WOLFRAM WHICH IS CHARACTERIZED BY JUVENILE ONSET DIABETES, VISION LOSS AND NEURODEGENERATION, AND IT WAS AN ACCIDENT.

A PURE ACCIDENT.

I BECAME VERY INTERESTED IN WOLFRAM.

>> MY NAME IS FUMIHIKO URANO.

AND I AM DIRECTING THE WOLFRAM SYNDROME RESEARCH HERE, AND WE HAVE BEEN MAKING STEADY PROGRESS.

I FELT THIS COULD BE A CHANCE FOR ME TO HELP THESE PATIENTS SUFFERING FROM DISEASE WITHOUT ANY TREATMENT.

>> DR. FUMIHIKO URANO HAS PUSHED RESEARCH SO QUICKLY AND SO AMAZINGLY.

>> ELLIE AND I GO TO WASHINGTON UNIVERSITY IN ST. LOUIS AND THERE'S THE WOLFRAM CLINIC THAT THEY DO EVERY YEAR.

>> YOU HAVE A DEFINITE DIAGNOSIS OF WOLFRAM SYNDROME, AS DETERMINED BY TESTING.

>> I WENT TO ST. LOUIS AND I WAS THERE FOR FIVE DAYS, THEY DID SMELL TESTS, TASTE TESTS, THEY DID VISION TESTING, HEARING TESTING, MRI, EVERY POSSIBLE EXAM YOU CAN EVER THINK OF IN THREE DAYS.

>> SQUEEZE MY FINGERS AS HARD AS YOU CAN.

GOOD.

>> NOT ONLY DID I HAVE ALL OF THESE TESTS IN A COUPLE DAYS BUT MY AMAZING BROTHERS AND MY AMAZING MOM, ALSO WENT WITH ME AND HAD ALL OF THE SAME TESTS DONE TO THEM AND USE THEM AS A CONTROL BASELINE TO HELP PUSH THE RESEARCH FORWARD.

>> RARE DISEASE RESEARCH IS SO HARD BECAUSE DIFFICULT TO SECURE FUNDS, AND DIFFICULT TO FIND A SOLUTION.

AND IF I DON'T MOVE FORWARD QUICKLY, CLEARLY EVERY YEAR I LOSE PATIENTS AND A FEW PATIENTS DIE EVERY SINGLE YEAR.

EVERY TIME A PATIENT DIES I FEEL DEVASTATED SO WE ARE RUNNING AGAINST THE TIME.

>> THE MOST IMPORTANT THING IS TO FIND A CURE FOR WOLFRAM SYNDROME.

THAT'S LIKE MY HIGHEST PRIORITY IN MY LIFE RIGHT NOW.

BECAUSE THERE'S NOTHING MORE IMPORTANT IN MY LIFE THAN MY KIDS.

AND TO SEE ELLIE SUFFER, LIKE THIS, IS JUST I FEEL LIKE I SEE HER DYING IN FRONT OF ME.

SHE'S GOT TYPE I DIABETES SHE LOST HER VISION AND SENSE OF SMELL AND TASTE, ARE DETERIORATING, AND MUSCLE CONTROL AND AS A DANCER THERE'S LIKE IN HER LIFE, THAT'S ALWAYS BEEN SO IMPORTANT.

>> DANCE IS MY LIFE, I'VE BEEN DOING IT EVER SINCE I WAS TWO YEARS OLD.

STYLES SUCH AS BALLET, POINTE, JAZZ, TAP, HIP-HOP, YOU NAME IT, I DO IT.

IT KEEPS ME ACTIVE, KEEPS ME HEALTHY, AND IS ALSO ANOTHER EMOTIONAL RELEASE.

IF I'M STRESSED OUT, OR IF I'M SAD, OR ANYTHING'S GOING WRONG, I JUST WANT TO GO TO THE DANCE STUDIO AND JUST DANCE.

AND WHEN I WAS NINE YEARS OLD, MY DANCE GROUP WE WERE INVITED TO COMPETE ON AMERICA'S GOT TALENT.

WE MADE IT FAR INTO THE SHOW, WE ENDED UP IN SECOND PLACE IN THE ENTIRE SHOW.

I USED IT AS A BIG PLATFORM TO GET THE WORD OUT ABOUT WOLFRAM SYNDROME.

>> WOLFRAM IS VERY RARE, THE PREVALENCE IS ONE IN 500,000.

SO PROBABLY IN THE UNITED STATES, THERE ARE ONLY 1000 PATIENTS.

>> WHEN I WAS DIAGNOSED WITH WOLFRAM SYNDROME, I WAS THE ONLY ONE IN ALL OF COLORADO.

AND THERE WERE VERY FEW THINGS WRITTEN ABOUT IT, SO I KNOW WHAT IT'S LIKE TO BE IN THE DARK.

>> WE FELT SO ABANDONED, KIND OF.

LONELY, AFTER HER DIAGNOSIS.

HAVING THE DOCTORS IN THE ROOM WITH YOU AND TELL YOU THERE'S NO TREATMENT, THERE'S NO CURE, THERE'S ABSOLUTELY NOTHING.

AND THEN TO THINK THAT NOBODY'S DOING RESEARCH ON IT, BECAUSE IT'S SO RARE, NOBODY CARES.

>> MANY PEOPLE ARE NOT INTERESTED IN THIS, YOU KNOW THIS IS SUCH A RARE DISEASE, I'M SO SORRY, IT'S SO UNFORTUNATE, THERE'S NOTHING WE CAN DO.

BUT, BY RAISING AWARENESS, I THINK PEOPLE MAY FEEL DIFFERENTLY.

>> I STARTED MY OWN FOUNDATION WHEN I WAS FIRST DIAGNOSED WITH WOLFRAM SYNDROME, BECAUSE I KNEW THAT IT WAS SUCH A RARE THING, NO ONE KNEW ABOUT IT, AND I KNEW THERE WERE OTHER INDIVIDUALS WITH THIS DISORDER AND WITH DISORDERS SIMILAR TO THIS, THAT MIGHT JUST BE TOO SCARED TO DO ANYTHING AND THEY MIGHT THINK THEIR LIFE IS OVER.

AND I WANT TO SHOW PEOPLE THAT LIFE IS STILL WORTH LIVING.

WE JUST WORK TIRELESSLY AND CONSTANTLY DOING FUNDRAISERS ALL OVER THE COUNTRY.

>> YOU KNOW ELLIE HAD THIS IDEA AND SAID IF WE'RE GOING TO BE SUCCESSFUL AT THIS, WE ARE GOING TO NEED TO HAVE A FOUNDATION, WE ARE GOING TO NEED TO RAISE AWARENESS AND DO IT ON A LARGER SCALE.

>> I HAVE THREE MAIN GOALS FOR MY FOUNDATION.

THE FIRST ONE IS TO SPREAD AWARENESS TO FAMILIES, TO MAKE SURE THAT THEY KNOW THAT THEY ARE NOT ALONE, AND THAT WORK IS BEING DONE.

AND THEN THE SECOND GOAL IS TO RAISE MONEY ALL AROUND THE COUNTRY TO DONATE TO THE RESEARCHERS AT WASHINGTON UNIVERSITY IN ST. LOUIS MISSOURI, MY BIGGEST GOAL IS TO JUST KEEP PUSHING RESEARCH FORWARD.

I WANT TO HELP START AS MANY CLINICAL TRIALS AS I CAN.

>> WE ARE INTERESTED IN FUNDING THE MOST CUTTING EDGE RESEARCH.

SO WE ARE REALLY EXCITED WE HAVE A CLINICAL TRIAL AND IT'S BASED ON A COMPOUND THAT I HAD COME ACROSS A FEW YEARS AGO.

>> THESE ARE FOR DURING THE MIXED MEAL TEST.

>> SO WE NEED TWO STEPS TO CURE WOLFRAM SYNDROME.

OKAY, LET'S TREAT DIABETES, LET'S TREAT VISION LOSS, AND LET'S TREAT NEURODEGENERATION.

WE MAY BE ABLE TO SOLVE THESE PROBLEMS AND WE MAY BE ABLE TO STOP THE PROGRESS.

BUT THAT DOES NOT ACTUALLY CURE THE DISEASE.

ELLIE HAS LOST MUCH OF HER VISION.

SO TO RESTORE THE FUNCTIONS OF DAMAGED TISSUES, WE NEED REGENERATIVE MEDICINE.

IT'S A NEW AREA OF MEDICINE, SO WE WILL TRY TO CREATE NEW CELLS AND INSULIN PRODUCING CELLS, NEW BRAIN CELLS IN THE DISH TRANSPLANT.

OR, INJECT REGENERATED MOLECULES INTO EYES TO REGAIN EYESIGHT.

IT MAY SOUND LIKE SCIENTIFIC FICTION, BUT THEORETICALLY IT IS POSSIBLE.

>> SCIENTIFICALLY, THERE IS REASON TO BELIEVE THAT IF WE CAN FIND A CURE FOR WOLFRAM SYNDROME, IT WOULD LEAD TO A CURE FOR THESE OTHER SITUATIONS AS WELL.

NOT ONLY WOULD IT HELP ELLIE, BUT IT WOULD HELP SO MANY PEOPLE WITH TYPE I DIABETES.

AND BLINDNESS AFFECTS SO MANY PEOPLE.

AND HEARING LOSS.

OF COURSE THERE'S ALWAYS THE THOUGHT IN THE BACK OF MY HEAD, THAT I HAVE THIS DISORDER, AND I MIGHT NOT LIVE THAT LONG, AND THAT CAN BE HARD, BUT I DON'T LET IT AFFECT ME BECAUSE I KNOW THAT THERE'S NOTHING I CAN DO ABOUT IT.

>> PEOPLE LIKE ELLIE AND BETH KEEP ME GOING, THEIR DEDICATION TO SUPPORT OTHER PATIENTS AND THEIR DEDICATION AND THEIR ENTHUSIASM TO FIND A CURE FOR WOLFRAM SYNDROME IS SO INSPIRING AND IMPRESSIVE.

>> I DO PLAN MY LIFE LIKE I'M GOING TO LIVE PAST THE LIFE EXPECTANCY OF MY DISORDER.

I WANT TO HAVE KIDS, I WANT TO BE A MOM.

>> THERE'S RYAN'S BLOOD DRAW.

>> SOMETIMES I TRY TO JUST CLOSE MY EYES AND IMAGINE YOU KNOW THAT WE FIND A CURE.

AND I PICTURE HER WEARING A WEDDING GOWN OR CARRYING HER BABIES AROUND.

THAT SORT OF THING, BUT I'M JUST DESPERATELY SCARED THAT WE ARE NOT GOING TO MAKE IT.

AND THAT'S NOT GOING TO BE WHAT HAPPENS.

>> THIS IS THE DISORDER I HAVE, IT DOES NOT HAVE ME.

AND I'M GOING TO LIVE MY LIFE HOW I CAN, WHILE I CAN.

>> SHE IS INCREDIBLY BRAVE AND I THINK PEOPLE OFTEN DO NOT EVEN REALIZE THAT SHE'S SUFFERING.

SOMETIMES I DON'T EVEN THINK SHE REALIZE SHE'S SUFFERING BECAUSE SHE'S SO BRAVE ABOUT IT.

>> STANDING BACK OUT.

PULLING BACK UP.

>> SHE HAS SUCH A BEAUTIFUL TENDENCY TO JUST ALWAYS LOOK FOR THE BEST IN EVERYTHING.

YOU KNOW THE BEST IN EVERY MOMENT OF LIFE AND THE BEST IN EVERY PERSON.

>> I WANT TO BE AROUND HER ALL THE TIME.

SHE JUST HAS SUCH AN INCREDIBLE SPIRIT AND HEART.

SHE'S READY FOR EVERYTHING ALL THE TIME.

>> MY DIAGNOSIS OF WOLFRAM SYNDROME IS A THING THAT I WOULD SAY CLOSED ONE DOOR, KNOWING THAT MY LIFE MIGHT BE SHORTER THAN NORMAL PEOPLE.

BUT IN THE OTHER WAY, IT OPENED SO MANY OTHER AMAZING DOORS.

>> OVER HERE ELLIE, TO MY RIGHT.

>> IT HAS HELPED ME LIVE LIFE TO THE FULLEST, WHILE I STILL CAN.

YOU ONLY LIVE ONCE.

>> I WANTED HER TO GET TO SEE AS MUCH OF THE WORLD AS POSSIBLE AND GET TO EXPERIENCE AS MUCH AS POSSIBLE AND I DON'T WANT HER TO BE AFRAID OF ANYTHING.

>> I WANT PEOPLE TO KNOW THAT I AM A PERSON WITH A DISORDER.

BUT I DO NOT LET IT STOP ME.

SO I WANT TO SHOW PEOPLE THAT THERE IS NO HURDLE OR OBSTACLE THAT'S BIG ENOUGH TO STOP YOU FROM DOING SOMETHING.

WE ARE AT THE BIBLE POINT IN ESTES PARK, WE JUST DID A MILE AND 1/2 TO 2 MILE HIKE UP THE MOUNTAIN.

>> HOW ARE YOU DOING?

>> GOOD.

>> I WOULD SAY THE WEATHER IS PROBABLY IN THE LOWER 70 DEGREES IT'S SUPER SUNNY, NICE AND BREEZY.

AND WE DID NOT LET ANYTHING GET IN OUR WAY, AND WE PUSHED THROUGH AND DID IT TOGETHER AND SUPPORTED EACH OTHER.

IT WAS JUST A HAPPY FAMILY GOING UP THE MOUNTAIN.

WE ALL HAVE A DISABILITY BUT THEY ARE DIFFERENT ABILITIES, SO WE DID IT AND WE ARE HERE AND IT'S AWESOME, SO KEEP GOING.

I DON'T LET MY DISORDER OR DISABILITY OR OTHER PEOPLE TELL ME I CAN'T, IF SOMEONE STARTS SAYING I CAN'T, THAT'S EVEN MORE OF A REASON THAT I SHOULD DO IT.

>> THERE'S NO WAY WE WOULD EVER FULLY UNDERSTAND WHAT IT'S LIKE TO BE SOMEONE ELSE.

>> YES SO ACTUALLY IF YOU SEE HERE.

HOW THEY ARE LIKE INDENTS, THEY ARE NOT REAL DOTS AND YOU CAN SEE THE DOTS.

IT SAYS COMMUNICATION 3100 AND THEN IT HAS OVER HERE TODAY'S DATE.

I LOVE LEARNING, I LOVE LOVE LOVE HELPING OTHER PEOPLE.

SO I WANT TO BE ABLE TO DO THAT TO IMPACT OTHERS.

AND TO CONTINUE DOING WHAT I LOVE DOING.

>> WE ARE CONCERNED ABOUT THE EXPERIENCES OF THE OTHER.

>> THIS DISORDER WILL JUST CONTINUE TO PROGRESS AND GET WORSE.

>> COMMUNICATION AS EXPERIENCE.

>> THAT'S WHERE I PUT MY FOOT DOWN AND SAY I'M NOT GOING DOWN WITHOUT A FIGHT.

AND IF NO ONE DOES ANYTHING, NOTHING'S GONNA GET DONE.

SO WE GOTTA START SOMEWHERE.

>> WOLFRAM RESEARCH IS SO IMPORTANT.

TO RAISE AWARENESS OF WOLFRAM IS SO IMPORTANT AND TO SAVE PATIENTS LIKE ELLIE IS IMPORTANT.

ELLIE IS MY FRIEND, NOT MY PATIENT, MY FRIEND.

>> I WANT TO GET STUFF DONE AND I WANT TO LIVE LIFE.

I'M GOING TO DO STUFF THAT, YOU KNOW, NORMAL PEOPLE MY AGE WOULD NOT EVEN CONSIDER DOING.

>> HAVING WOLFRAM SYNDROME AND HAVING THIS KIND OF A DISORDER AND HAVING A MEDICAL CONDITION THAT AFFECTS EVERY MOMENT OF YOUR LIFE.

AND IT DOESN'T BRING HER DOWN.

♪ [MUSIC PLAYING] >> I JUST COULD NOT BE MORE PROUD OF HER.

OR MORE IMPRESSED AT WHAT AN AMAZING HUMAN BEING SHE IS.

>> I HAVE THE WORLD'S BEST MOM, SHE HELPS ME LEARN INDEPENDENCE, AND HELPS ME LEARN THAT I AM AN INDIVIDUAL THAT CAN MAKE A DIFFERENCE.

SHE LITERALLY IS THE BIGGEST ROCK IN MY LIFE.

♪ [MUSIC PLAYING] JUST THE LAUGHTER WE HAVE SHARED, THE AMAZING EXPERIENCES, THE SCARIER EXPERIENCES.

WHICH ARE STILL VERY MEMORABLE.

JUST HAVING THOSE UNIQUE FAMILY EXPERIENCES IS INCREDIBLE.

AND, HAVING SUCH AMAZING RELATIONSHIPS WITH DR. URANO AND ALL OF HIS TEAM.

IS JUST AMAZING.

I JUST KNOW THAT THERE ARE SO MANY MORE UNFORTUNATE CASES WHERE MY LIFE COULD HAVE ENDED UP.

BUT WE JUST NEED TO, YOU KNOW, TRY TO FIND A SILVER LINING BECAUSE I KNOW AND I STRONGLY BELIEVE THERE'S A SILVER LINING IN EVERYTHING.

AND IF YOU NEVER FIND IT, AND NEVER YOU KNOW WALK TOWARD IT, THEN YOU ARE JUST ALWAYS GOING TO BE DWELLING IN SORROWS.

♪ [MUSIC PLAYING] >> LIFE IS TOO SHORT TO LET SOMETHING GET IN YOUR WAY.

SO HAVE FUN, EXPERIENCE LIFE, AND FREAK OUT YOUR MOM EVERY CHANCE YOU GET.

♪ [MUSIC PLAYING] EVEN THOUGH I HAVE WOLFRAM SYNDROME, I FEEL LIKE I'M THE LUCKIEST GIRL ALIVE.

♪ [MUSIC PLAYING]