(MUSIC) GOOD MORNING EVERYBODY!
AND WELCOME TO THE BALANCING ACT.
WE'RE SO GLAD YOU JOINED US.
I'M JULIE MORAN.
AND I'M OLGA VILLAVERDE.
TODAY WE GO BEHIND THE MYSTERY OF A GENETIC DISEASE KNOWN AS
POMPE DISEASE.
THAT'S RIGHT WE ARE DEDICATING OUR SHOW TO LEARN MORE ABOUT
THIS NEWER MUSCULAR DISORDER WHICH CAUSES MUSCLE WEAKNESS.
NOW SYMPTOMS CAN VARY WIDELY FROM PERSON TO PERSON.
WE'LL BE TALKING TO BOTH A CHILD AND AN ADULT WHO ARE SUFFERING
FROM IT.
PLUS, WE'LL BE SPEAKING TO THE DOCTOR'S WHO ARE HELPING TO
TREAT THE DISORDER.
AND EARLY DIAGNOSES IS CRITICAL FOR OPTIMAL PATIENT OUTCOMES.
SO, LET'S GET STARTED.
THE BALANCING ACT STARTS RIGHT NOW.
(MUSIC) (PIANO MUSIC)
IMAGINE LIVING WITH RANDOM MEDICAL SYMPTOMS
THAT JUST DON'T SEEM TO ADD UP.
GOING FROM DOCTOR TO DOCTOR WITHOUT ANSWERS AND POSSIBLY
EVEN BEING MISDIAGNOSED FOR YEARS.
AND WHILE PRECIOUS TIME IS BEING LOST.
WELL, DR.
BARRY BYRNE, DIRECTOR OF THE UNIVERSITY OF FLORIDA
POWELL CENTER HAS SEEN THIS SCENARIO PLAYED OUT ALL TOO
OFTEN.
AND HE IS HERE THIS MORNING TO RAISE AWARENESS ABOUT A RARE
GENETIC DISORDER THAT FITS THIS EXACT DESCRIPTION.
DR.
BYRNE, THANK YOU SO MUCH FOR JOINING ME THIS MORNING.
THANK YOU.
LET'S TALK ABOUT THIS RARE DISEASE AND WHY IT'S
MISDIAGNOSED.
WHAT IS IT CALLED?
WELL, POMPE DISEASE IS ONE OF THE CONDITIONS THAT IS DUE TO
ABNORMAL STORAGE OF SUGARS IN MUSCLES AND NERVE TISSUES THAT
AFFECTS THE ABILITY TO WALK, BREATHE PROPERLY, AND CAN, IN
THE YOUNGER CHILDREN, HAVE A REALLY SIGNIFICANT IMPACT
ON HEART FUNCTION.
AND WHAT ARE THE SYMPTOMS THAT ONE SEES WHEN THE DISEASE STARTS
TAKING.
WELL, FIRST PATIENTS MAY NOTICE DIFFICULTY IN WALKING.
SOMETIMES IN THE OLDER PATIENTS THE FIRST SYMPTOMS ARE
ASSOCIATED WITH DIFFICULTY BREATHING AT NIGHT.
WHICH OFTEN LEADS TO HEADACHES DURING THE DAY.
AND IN THE YOUNGER PATIENTS THE BREATHING PROBLEMS ARE VERY
SIGNIFICANT AND CAN LEAD TO EARLY HOSPITALIZATION BECAUSE OF
HEART PROBLEMS ASSOCIATED WITH POMPE.
AND YOU'RE TALKING ABOUT SYMPTOMS THAT I CAN SEE WHY IT
COULD BE A REASON WHY IT'S MISDIAGNOSED BECAUSE I CAN THINK
OF SO MANY OTHER DISEASES THAT FALL INTO THOSE SYMPTOMS.
THERE ARE MANY FORMS OF MUSCULAR DYSTROPHY AND OTHER GLYCOGEN
STORAGE DISEASES BUT THEY HAVE MANY OVERLAPPING CHARACTERISTICS
THAT MAY GET CONFUSING TO PICK OUT WHICH ONE IS THE EXACT
CAUSE.
IF A DOCTOR OR EVEN A PATIENT HAS AN IDEA OF WHAT COULD BE
HAPPENING IS THERE A SPECIFIC BLOOD TEST A GENETIC TEST THAT
CAN KIND OF PINPOINT AND SAY THIS IS WHAT YOU HAVE?
SURE.
THERE ARE MANY SPECIFIC TESTS NOW FOR MUSCLE DISEASES THAT
EITHER TEST FOR ENZYME ACTIVITY IN THE CASE OF POMPE, OR NOW THE
ADVANT OF THE HUMAN GENONE PROJECT HAS ALLOWED US TO TEST
THE SPECIFIC GENES THAT ARE CAUSATIVE OF THIS GROUP OF
DISEASES.
SO, IT'S VERY EASY NOW TO PINPOINT EXACTLY THE CAUSE OF
ONE OF THESE PROBLEMS THAT ARE OFTEN SEEM LOOK ALIKE.
NOW, YOU MENTIONED YOUNG PATIENTS, EDERLY PATIENTS.
DO YOU SEE IT MORE IN ONE GROUP THAN ANOTHER.
LET'S SAY MORE IN MEN OR WOMEN OR IS IT FAIR GAME?
NO, MEN AND WOMEN ARE EQUALLY AFFECTED.
ALL ETHNICITIES ARE AFFECTED.
THIS IS A DISEASE IN WHICH BOTH PARENTS ARE CARRIERS.
OKAY.
AND THEN A PROPORTION OF THE CHILDREN WILL HAVE THAT SAME
GENE FROM EACH PARENT AND THEN BE AFFECTED WITH THE CONDITION.
ALRIGHT STAY RIGHT THERE DOCTOR BECAUSE WE DO HAVE A FAMILY THAT
IS GOING TO BE JOINING US IN JUST A BIT.
A VERY SPECIAL FAMILY WHO HAS TWO WONDERFUL CHILDREN AFFECTED
BY POMPE DISEASE.
THEIR STORY, COMING UP NEXT.
STAY WITH US.
(MUSIC) (MUSIC)
WELCOME BACK.
WE'VE BEEN SPEAKING WITH DR.
BARRY BYRNE WHO SPECIALIZES IN RARE GENETIC DISORDERS LIKE
POMPE DISEASE.
AND WE'RE NOW JOINED BY THE CROWLEY FAMILY WHO I KNOW IS
GOING TO INSPIRE ALL OF YOU.
WELCOME DONNA, MADDIE, AND MATT CROWLEY.
GOOD MORNING.
THANK YOU.
DONNA, LET ME START WITH YOU.
TELL ME WHEN YOUR JOURNEY BEGAN WITH THE POMPE DISEASE?
WELL, IT HAPPENED RATHER QUICKLY.
MADDIE JUST HAD A LOT OF HAIR LOSS AND I QUICKLY BROUGHT HER
TO THE PEDIATRICIAN AND RAN A LOT OF BLOODS ON HER AND HER
LIVER ENZYMES CAME BACK VERY ELEVATED.
WHICH THEN LEAD US TO A LIVER SPECIALIST AT CHILDREN'S
HOSPITAL OF PHILADELPHIA.
AND OUR STORY REALLY STARTS THERE.
AND YOU REALLY DON'T KNOW WHAT'S GOING ON.
AND THEN A FEW MONTHS LATER, MATT, YOUR OTHER DAUGHTER IS
DIAGNOSED?
CORRECT.
TELL ME WHAT HAPPENED.
IT WAS PRETTY STUNNING.
I MEAN, I THINK WE WERE STILL IN A PROCESS OF ABSORBING THE
IMPACT OF MADDIE'S DIAGNOSES WHEN WE HEARD ABOUT EMMA.
AND I THINK THAT IT WAS, AS A PARENT, WE SAW IT AS ALMOST THE
PERFECT NIGHTMARE.
EVEN THOUGH WE DID OUR BEST TO TRY AND HIDE IT FROM THE GIRLS.
UNDERSTOOD THERE.
DOCTOR, IS IT USUAL TO SEE YOUNG SIBLINGS IN ONE FAMILY BE
DIAGNOSED WITHIN MONTHS APART?
WELL, WHEN BOTH PARENTS ARE CARRIERS OF AN ABNORMAL GENE IN
THE CASE FOR POMPE DISEASE, THAT EMMA AND MADDIE HAVE, THEY CAN
INHERIT THAT COPY OF THE GENE FROM BOTH PARENTS.
SO, YES, IT CAN HAPPEN, IT'S NOT USUAL BUT IT CAN HAPPEN.
AND DONNA, WHEN YOU HEARD POMPE DISEASE DID YOU EVEN KNOW
ANYTHING ABOUT IT?
I HAD NEVER HEARD OF IT BEFORE.
NO.
SHOCKING FOR YOU?
VERY!
YES, A LOT TO TAKE IN.
MATT, YOU WERE TALKING ABOUT BOTH GIRLS, AGAIN BOTH LITTLE
GIRLS.
I HAVE TWO GIRLS.
EMOTIONALLY FOR YOU AND YOUR WIFE, DIFFICULT?
YES, IT WAS VERY IMPACTFUL.
I MEAN WHEN MADDIE WAS DIAGNOSED AT FIRST IT WAS A FEW MONTHS
BEFORE EMMA.
AND JUST THE ENTIRE IMPACT TO US AS A FAMILY WAS QUITE STRONG.
AND OUR EXTENDED FAMILY AND FRIENDS AS WELL.
AND THEN WHEN EMMA WAS DIAGNOSED A FEW MONTHS LATER IT JUST
SEEMED LIKE A PERFECT NIGHTMARE.
MADDIE HOW OLD WERE YOU, IF I MAY ASK,
WHEN YOU WERE DIAGNOSED.
LIKE 9 OR 10.
9 OR 10.
WAS IT HARD ON YOU?
I MEAN, DID YOU KNOW SOMETHING WAS NOT RIGHT?
I ALWAYS THOUGHT SOMETHING WAS WRONG WITH ME.
LIKE EVERYBODY HAS THEIR OWN PROBLEMS.
OF COURSE.
BUT I JUST DIDN'T UNDERSTAND.
LIKE, I COULDN'T KEEP UP WITH OTHER PEOPLE AT SCHOOL AND I
ALWAYS FELT LIKE I WAS DIFFERENT SOMEHOW BUT I JUST DIDN'T KNOW
HOW.
AND I KNOW WHEN YOUR SISTER WAS DIAGNOSED, I'VE HEARD IT WAS
PRETTY HARD ON YOU TO SEE HER ALSO.
YES, I KIND OF WANTED TO TAKE IT ALL ON MY OWN BECAUSE I WAS
COMFORTABLE WITH ME HAVING THE PROBLEM BUT WITH HER HAVING IT
TOO, IT KIND OF HURT.
DOCTOR, HOW HAVE YOU HELPED THE GIRLS MANAGE WITH THE DISEASE?
WELL, AS YOU CAN TELL, THE FAMILY REALLY TAKES THIS PROBLEM
ON AS A TEAM.
YES, THEY DO.
AND EVEN THEIR SON CARTER, WHO IS NOT AFFECTED BY POMPE REALLY
CARRIES SOME OF THE BURDEN, I THINK.
AND AS A FAMILY THROUGH THAT STRENGTH THEY HAVE REALLY
EMPOWERED THE GIRLS TO TAKE A VERY POSITIVE ATTITUDE.
AND THAT'S VERY IMPORTANT WITH ANY CHRONIC PROBLEM.
THAT'S HUGE.
THEY'RE REALLY GREAT EXAMPLES IN THAT WAY.
AND DONNA, AMAZING INSPIRATION THAT YOU ALL HAVE BEEN.
AND AMAZING STRENGTH THAT YOU HAVE HAD.
IT'S REALLY HELPED YOU GET THROUGH THIS HURDLE HASN'T IT?
YES, WE ARE A VERY STRONG UNIT.
IT WAS VERY DIFFICULT IN THE BEGINNING BUT ONCE WE GOT
THROUGH THE FOG WE WERE ABLE TO BE READY TO FIGHT AND FIGHT AS A
FAMILY.
AND YOUR DAUGHTERS, I KNOW, CONTINUE TO CREATE AWARENESS
WHICH I THINK IS WONDERFUL NOT ONLY BECAUSE, YOU KNOW, THEY ARE
LIVING WITH THE DISEASE BUT THEY WANT TO HELP PEOPLE TOO.
MATT, YOU MUST BE SO PROUD OF THEM.
WE ARE VERY PROUD.
I MEAN MADDIE WAS INVOLVED IN A PENNSYLVANIA STATE WIDE GOODWILL
AMBASSADOR FOR THE MDA.
OUR OLDER DAUGHTER EMMA, ALSO STARED AN MDA CLUB AT HER HIGH
SCHOOL.
AND THEY ARE VERY ENGAGED IN DIFFERENT CAMPS AND FUNDRAISING
EVENTS FOR DIFFERENT MUSCULAR DYSTROPHIES INCLUDING POMPE.
AND MADDIE, I'VE GOT TO TELL YOU YOUR STORY IS WONDERFUL
BECAUSE YOU REALLY HAVE INSPIRED ME TO KNOW THAT NOTHING CAN STOP
YOU.
CORRECT?
I KNOW YOU HAVE A LOT OF DREAMS AND A PRETTY BRIGHT FUTURE, I
HEAR?
YOU WANT TO FILL ME IN AND TELL OUR AUDIENCE WHAT YOU WOULD LIKE
TO DO ONE DAY?
I'M REALLY INTO MUSIC AND SINGING SO HOPEFULLY MAYBE SOME
DAY I CAN BE ON BROADWAY OR DO SOMETHING WITH MUSIC.
WOW!
SO, IF YOU WERE ON BROADWAY, THE LIGHTS ARE ON, THE MIC IS YOURS,
WHAT WOULD YOU SING?
PHANTOM OF THE OPERA.
OH MY FAVORITE!
WELL, IF YOU EVER ARE AND I KNOW YOU ARE GOING TO BE, PROMISE
YOU'LL CALL ME.
I WILL TAKE JULIE AND WE WILL BE THERE FRONT AND CENTER WITH YOUR
FAMILY.
OKAY.
AND DOCTOR YOU'RE INVITED AS WELL.
THANK YOU SO MUCH.
THANK YOU FOR CREATING THIS AWARENESS.
GOD BLESS ALL OF YOU AND GOOD LUCK TO YOU.
THANK YOU.
AND OF COURSE IF YOU WOULD LIKE TO LEARN MORE ABOUT POMPE
DISEASE, THE RESEARCH, WHAT'S BEING DONE, TREATMENTS.
JUST GO TO OUR WEBSITE THEBALANCINGACT.COM
THAT'S THEBALANCINGACT.COM
ALSO, WE ARE ON FACEBOOK AND TWITTER.
JOIN US THERE.
STAY TUNED, BECAUSE PART TWO OF THIS VERY SPECIAL MINI SERIES IS
COMING RIGHT UP SO STAY RIGHT THERE.
(MUSIC) (PIANO MUSIC)
BEFORE THE BREAK, WE STARTED A VERY
INFORMATIVE AND INSPIRATIONAL DISCUSSION ABOUT A RARE NEURAL
MUSCULAR DISORDER CALL POMPE DISEASE WITH DR.
BARRY BYRNE AND ONE OF HIS VERY SPECIAL PATIENT
FAMILIES.
AND NOW, WE ARE JOINED BY THREE ADULT POMPE PATIENTS WHO HAVE
SOME VERY COMPELLING STORIES OF THEIR OWN.
ALISON KWIATKOWSKI, JENNY WILDER, AND BRIAN WHITE.
THANK YOU SO MUCH FOR BEING HERE THIS MORNING.
THANK YOU.
ALISON, I WANT TO START WITH YOU.
I LEARNED A LOT WITH THE DOCTOR AND THE FAMILY IN TERMS OF HOW
EARLY DETECTION IS REALLY IMPORTANT, EARLY DIAGNOSIS.
SO, TELL ME HOW YOU CAME TO KNOW YOU HAD POMPE DISEASE?
IT TOOK A LONG TIME FOR ME.
IT DID?
YES.
I STARTED WHEN I WAS TWO YEARS OLD WE DISCOVERED THAT I HAVE
ELEVATED LIVER ENZYMES.
BUT THERE WERE NO OTHER SYMPTOMS AT THE TIME SO MY DOCTOR JUST
HAD ME MONITORED BASICALLY.
OKAY.
AND IT WASN'T UNTIL I REACHED MY EARLY 20'S THAT I ACTUALLY
STARTED HAVING MORE SEVERE SYMPTOMS.
20'S?
YES.
SYMPTOMS LIKE?
DIFFICULTY BREATHING.
ESPECIALLY DURING SLEEP.
AND ACTUALLY I LOST SOME WEIGHT AND MY DOCTOR THOUGHT THAT MAYBE
IT WAS ANXIETY.
SHE ACTUALLY CHECKED ME INTO THE HOSPITAL UNDER SUSPICION OF
ANOREXIA.
REALLY?
AND NO DIAGNOSIS OF POMPE DISEASE?
NO.
ALMOST 20 YEARS LATER.
YES.
JENNY, WHAT ABOUT YOU?
DID IT TAKE THAT LONG FOR YOU?
IT TOOK A LONG TIME.
ACTUALLY, I DEVELOPED SYMPTOMS BACK IN THE 1990'S AND THROUGH
DIFFERENT MUSCLES BIOPSIES AND TRYING TO FIGURE OUT WHAT IT WAS
AND MISDIAGNOSIS.
I WAS MISDIAGNOSED WITH ANYTHING AND EVERYTHING.
ON EVERY KIND OF MEDICINE THAT YOU CAN THINK OF.
FINALLY, DIAGNOSED BY ONE DOCTOR AT THE MAYO CLINIC IN ROCHESTER.
AND THAT WAS BEFORE THERE WAS ANY KIND OF OPTIONS OUT THERE
FOR ME.
SO, I WAS TOLD THAT THERE WAS NOTHING AVAILABLE AT THE TIME.
FRUSTRATING?
VERY FRUSTRATING.
VERY, VERY, VERY DISHEARTENING.
BECAUSE YOU KNOW THAT SOMETHING IS WRONG BUT YOU ARE NOT QUITE
SURE WHAT TO DO WITH IT SO.
AND NO ONE CAN LEAD YOU IN ANY KIND OF DIRECTION?
NO ONE COULD AT THE TIME.
BRIAN, DID IT TAKE THAT LONG FOR YOU?
I HAD A VERY SIMILAR SITUATION.
I WAS 35 YEARS OLD.
NORMAL GUY.
NOTHING DIFFERENT.
THEN ALL OF SUDDEN, OUT OF THE BLUE, I STARTED FALLING ASLEEP.
AT MY COMPUTER, DRIVING THE CAR, IN THE DRIVEWAY, WATCHING MY
KIDS PLAY.
AND YOU KNOW THAT'S NOT LIKE YOU.
YES, THAT WAS NOT NORMAL.
SO, I WENT THROUGH A SERIES OF DOCTORS, PULMONOLOGISTS, SEVERAL
NEUROLOGISTS.
TOOK ABOUT 3 YEARS TO FINALLY, MULTIPLE BIOPSIES, TO FINALLY
FIGURE OUT WHAT IT WAS.
AND WOULD YOU DO YOUR OWN KIND OF RESEARCH TO SEE IF YOU COULD
FIND OUT SOMETHING?
YES.
YOU KNOW, YOU HAVE TO BE YOUR OWN ADVOCATE.
AND I THINK, FRANKLY, AFTER ABOUT TWO YEARS, MY WIFE AND I
KNEW IT WAS POMPE DISEASE.
A YEAR BEFORE DIAGNOSES WE HAD PRETTY MUCH FIGURED IT OUT
OURSELVES.
EVEN BEFORE BUT STILL NO CONCRETE ANSWER.
YES, NONE AT ALL.
ALRIGHT, I KNOW YOU GUYS ARE DOING A LOT BETTER AND WANT TO
HEAR MORE ABOUT YOUR LIFE AND HOW THIS HAS NOT EVEN STOPPED
YOU FROM DOING WHAT YOU WANT TO DO WITH YOU FUTURE.
SO, STAY WITH US BECAUSE COMING UP AFTER THE BREAK, WE ARE GOING
TO FIND OUT HOW THEY DOING AND WHAT ADVICE THEY HAVE FOR
VIEWERS OUT THERE WHO KNOW SOMEONE WITH THESE SYMPTOMS OR
MAYBE KNOW SOMEONE WITH POMPE DISEASE.
STAY RIGHT THERE.
(MUSIC) (MUSIC)
WELCOME BACK EVERYONE.
WE'RE IN THE MIDDLE OF SPECIAL MINI SERIES ON THE RARE AND
OFTEN MISDIAGNOSED NEURAL MUSCULAR DISORDER KNOWN AS POMPE
DISEASE.
I'M BACK WITH THREE VERY SPECIAL GUESTS.
ALL OF WHOM WERE EVENTUALLY DIAGNOSED WITH POMPE DISEASE.
AND ALL THREE FELT IT WAS IMPORTANT TO HELP SPREAD
AWARENESS ABOUT THIS CONDITION.
BRIAN, LET ME START WITH YOU.
YOU ARE MARRIED, TWO BOYS, OBVIOUSLY VERY ACTIVE BOYS.
YOU WORK FULL TIME FOR THE FEDERAL GOVERNMENT.
HOW HAS HAVING POMPE DISEASE, I MEAN HAS IT AFFECTED YOUR LIFE?
IT HAS.
SIGNIFICANTLY.
ON A POSITIVE SIDE, I CAN STILL WORK.
I CAN STILL GET OUT THERE AND EARN THE MONEY THAT I NEED TO
FOR MY FAMILY WHICH IS GOOD.
ON THE NEGATIVE SIDE, PHYSICALLY, IT'S HURTING ME.
IT'S HARD TO BREATHE AND IT'S HARD TO DO ANYTHING PHYSICAL.
GET AROUND AND GO TO THE MALL HAS BECOME A STRESS.
SO, YOU PACE YOURSELF.
YOU DO.
AND YOU KIND OF CAME AT THINGS A LITTLE DIFFERENTLY.
YOU KNOW, YOU GO TO THE BEACH, YOU DON'T GO IN THE WATER.
YOU GO THERE STILL, SO YOU PARTICIPATE IN EVERYTHING BUT
YOU'VE GOT TO KIND OF COME WITH A DIFFERENT WAY TO DO IT.
BUT YOU DON'T LET IT STOP YOU.
NOT AT ALL.
AND I LIKE THAT.
JENNY, LET ME TALK WITH YOU NOW.
WHEN YOU WERE DIAGNOSED, AND IT OBVIOUSLY TOOK A LONG TIME FOR
YOUR DIAGNOSIS TO COME THROUGH.
AT THE TIME, THERE WERN'T REALLY MANY OPTIONS FOR YOU.
TRUE.
HOW DID YOU DEAL WITH THAT AND HOW HAS YOUR LIFE CHANGED SINCE
YOU HAVE FOUND OTHER AVENUES?
I WAS TEACHING.
I'M A RETIRED EDUCATOR.
OKAY.
AND I THINK THE BIG PART WAS, YOU KNOW, TO WATCH DIET,
EXERCISE.
AND I KEPT GOING.
I THINK MY ATTITUDE WAS THE BIG PART OF IT.
BEING AROUND CHILDREN, NATURALLY, WILL KEEP YOU UPBEAT.
AND NO MATTER WHAT I WAS WITH THEM.
I MIGHT BE LAGGING BEHIND THEM IN SOME WAY BUT WE KEPT UP AND
THEY WERE VERY GRACIOUS ABOUT KEEPING UP WITH ME.
BUT I THINK THAT WAS A BIGGIE.
AND I THINK THAT WITH THE OPTIONS THAT ARE AVAILABLE TODAY
AND PAYING ATTENTION TO MY BODY.
OKAY.
IS WHAT TELLS ME.
AND WHEN I RETIRED, I STILL WORK IN THE YARD.
DO PHOTOGRAPHY.
GOOD.
I MEAN I HAVE TO PACE MYSELF ALSO.
I LEARN TO COMPENSATE BUT I THINK THE ATTITUDE IS THE KEY.
I THINK THAT'S THE BIG KEY FOR ME.
AND ANOTHER KEY FOR YOU ALISON HAS BEEN YOUR DIET AND EXERCISE.
I KNOW YOU'VE CHANGED IT A LOT.
TELL ME WHAT YOU DO.
RIGHT.
SO, RIGHT NOW, I FOLLOW A HIGH PROTEIN AND LOW CARB DIET.
OKAY.
WHICH HAS HELPED.
AND I EXERCISE EVERY DAY.
I ROTATE BETWEEN ZUMBA CLASSES.
I LOVE ZUMBA!
IT'S AMAZING.
DO YOU MOVE A LOT WITH ZUMBA?
OH YEAH!
OF COURSE!
I DO SOME WEIGHT TRAINING.
OKAY.
AND I HAVE A HOME EXERCISE PROGRAM THAT A PHYSICAL
THERAPIST HELPED ME DEVELOP.
AND I KNOW SOMETHING ELSE THAT HAS HELPED YOU, HAS BEEN THE
HELPING HAND OF DR.
BYRNE.
I KNOW HE'S BEEN IMPACTFUL FOR YOU.
YES.
CAN YOU SHARE THAT?
YES, DR.
BYRNE HAS BEEN REALLY AMAZING WITH CARING FOR HIS
PATIENTS, INCLUDING ME.
AND HE IS ALSO INTRODUCED ME TO OTHER PEOPLE IN THE POMPE
COMMUNITY, LIKE THESE PEOPLE AND IT'S REALLY BEEN GREAT KNOWING
THAT I'M NOT ALONE ON THE JOURNEY.
AND JENNY, THAT IS IMPORTANT TO KNOW THAT YOU ARE NOT ALONE,
ISN'T IT?
IT'S VERY IMPORTANT BECAUSE WHEN I WAS FIRST DIAGNOSED THERE WAS
NOBODY.
I MEAN THEY KNEW OF NOBODY WITH MY CONDITION.
SO, IT IS THE SEMINARS, THE MEETINGS ARE VERY HELPFUL.
MEETING PEOPLE THAT HAVE THE SAME CONDITION IS HELPFUL AND WE
KIND OF GET IDEAS FROM EACH OTHER AND I THINK THAT'S GREAT.
AND SUPPORT.
AND BRIAN NOT ONLY THE SUPPORT BUT THE AWARENESS THAT WE ARE
CREATING THIS MORNING.
BECAUSE I'LL BE HONEST, BEFORE YOU CAME, I HAD NOT HEARD OF
THIS.
RIGHT.
SO, FOR ME IT'S BEEN AN EYE OPENING EXPERIENCE.
AND I THINK THAT IS KEY.
NO QUESTION.
AND I THINK WHAT WE'VE ALL LEARNED TO IS THE MOST IMPORTANT
THING IS TO BE YOUR OWN ADVOCATE.
BE GOING THROUGH THIS PROCESS AND KIND OF BOUNCED AROUND AND
THROUGH THE MEDICAL SYSTEM.
YOU'VE GOT TO KEEP PUSHING.
YOU'VE GOT TO BE AN ADVOCATE FOR YOURSELF 100 PERCENT, REALLY.
TO GET WHAT YOU NEED.
AND FROM WHAT I'VE GATHERED, TO GET WHAT YOU NEEDED TO GET THE
ANSWERS YOU NEED RIGHT?
JENNY?
YES.
EDUCATION IS THE KEY.
AND I THINK BECAUSE OF WHAT I KNOW ABOUT IT AND WHAT I'VE
STUDIED AND WHAT I'VE BEEN THROUGH.
WHEN I HEAR OTHER PEOPLE TALK AND DO KNOW SOMEONE WHO IS GOING
THROUGH A SIMILAR SITUATION, SYMPTOMS SOUND VERY SIMILAR.
REALLY?
AND I'VE SUGGESTED THAT A SIMPLE BLOOD TEST.
JUST A SIMPLE BLOOD TEST WILL TELL YOU.
HAS SHE DONE IT?
NOT YET.
BUT I KEEP PUSHING.
JUST SO CLEAR.
A SIMPLE BLOOD TEST THAT CAN REALLY JUST GIVE YOU THE ANSWERS
TO A MYSTERY THAT YOU DON'T KNOW.
YES.
CORRECT, ALLISON?
RIGHT.
THANK YOU SO MUCH FOR YOUR TIME.
I REALLY DO APPRECIATE IT.
IF THERE IS ANYTHING ELSE IN THE FUTURE TO SHARE WITH US PLEASE
COME BACK.
AND I WISH YOU ALL A LOT OF LUCK.
GOD BLESS YOU.
AND IF YOU'RE OUT THERE AND POMPE DISEASE SOUNDS LIKE
SOMETHING THAT YOU'D LIKE MORE RESOURCES AND INFORMATION JUST
HEAD STRAIGHT TO THE WEBSITE, THEBALANCINGACT.COM
AND DON'T FORGET TO FOLLOW US ON FACEBOOK
AND TWITTER.
AGAIN THE WEBSITE, THEBALANCINGACT.COM
(MUSIC) SO
MUCH GOOD INFORMATION ON TODAY'S SHOW.
AND BE SURE TO CHECK OUT OUR WEBSITE,
THEBALANCINGACT.COM AS
WELL.
LOTS THERE FOR YOU.
AND DON'T FORGET ABOUT FACEBOOK AND TWITTER.
LOOK US UP THERE.
AND WE'LL SEE YOU AGAIN SOON.
AND REMEMBER TO FIND YOUR BALANCE.
SO LONG EVERYBODY.