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.
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
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AND TWITTER. AGAIN THE WEBSITE,
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