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,
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