CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY, OR C.S.I.D.
IT'S RARE CONGENITAL DISORDER OF THE SMALL INTESTINE, AND IT'S
INABILITY TO ABSORB SUCROSE, YOU KNOW A COMMON FORM OF SUGAR.
WE'VE ALL HEARD OF FOLKS WHO ARE LACTOSE INTOLERANT.
WELL C.S.I.D.
IS SOMEWHAT SIMILAR, AND CAN BE VERY VERY DIFFICULT TO DIAGNOSE.
SO HERE TO EXPLAIN MORE, AS PART OF OUR SPECIAL SERIES BEHIND THE
MYSTERY, RARE AND GENETIC DISEASES, IS DR.
WILLIAM TREEM, A PEDIATRIC AND
GASTROENTEROLOGIST.
GOOD MORNING DOCTOR.
GOOD MORNING.
THANK YOU SO MUCH FOR BEING HERE.
I REALLY APPRECIATE YOUR TIME.
SO LETS TALK ABOUT C.S.I.D.
HOW DOES IT MANIFEST AND DOES IT ONLY AFFECT CHILDREN?
NO, IT DOESN'T ONLY EFFECT CHILDREN.
CLASSICALY IT DOES MANIFEST VERY EARLY IN LIFE DURING INFANCY
WITH SEVERE DIARRHEA, BLOATING GAS, ABDOMONAL PAIN, AND POOR
GROWTH.
MALNUTRITION EVEN.
BUT, IT CAN MANIFEST ITSELF IN A LESS DRAMATIC WAY, AND COULD
EFFECT TODDLERS, OR EVEN OLDER CHILDREN WITH WHAT HAS BEEN
CALLED IRRATABLE BOWEL SYNDROME.
IBS.
BUT IS ACTUALLY C.S.I.D., OR EVEN ADOLESCENCE, OR ADULTS WHO
CARRY THE DIAGNOSIS OF DIARRHEA PREDOMINATE IRRATABLE BOWEL
SYNDROME MAYBE ALL THEIR LIFE WHEN IN FACT THEY MAY HAVE HAD
THIS UNDERLYING GENETIC ENZYME DEFIECIENCY.
WHICH LEADS ME TO PARENTS WHO MAYBE DON'T KNOW.
AND WE KNOW IT'S A GENETIC DISEASE, IT'S PASSED ON, AND I
CAN ONLY IMAGINE IT COULD BE AN EMOTIONAL ROLLERCOASTER FOR
PARENTS WHO ARE UNAWARE, AND THEIR CHILDREN MAYBE HAVE THE
SYMPTOMS.
THEY CAN'T REALLY CONTROL THEM, TOUGH RIGHT?
VERY TOUGH.
AND I THINK THE KEY HERE IS TO RECOGNIZE AND BE PERSISTENT
ABOUT YOUR CHILDS SYMPTOMS.
TO GO TO YOUR DOCTORS AND MAKE THEM AWARE THAT THERE IS A
PROBLEM, AND THAT PERHAPS THE REMEDIES THAT HAVE BEEN
SUGGESTED ARE REALLY NOT DOING THE TRICK.
BUT I THINK THAT'S THE KEY I THINK.
THE SYMPTOMS ARE VERY COMMON.
DIARRHEA, PAIN, IRRATABILITY, BUT THE DISEASE IS VERY RARE.
CORRECT.
AND THEREFORE MANY PHYSICIANS ARE NOT VERY FAMILIAR WITH IT,
AND I THINK IT TAKES THE PARENTS TO BE THEIR CHILDS ADVOCATE TO
REALLY PUSH FOR THE RIGHT DIAGNOSIS.
AND THAT'S WHY WE'RE TALKING ABOUT IT TODAY ON THE BALANCING
ACT, AND WE ACTUALLY HAVE TWO FAMILIES WITH US WE SPOKE WITH
THE HARRIS FAMILY EARLIER TODAY AND THEIR JOURNEY, AND THEIR
TODDLER WITH C.S.I.D.
LET'S LISTEN TO THEIR STORY.
(MUSIC).
WELL HUDSON WAS ABOUT FOUR MONTHS OLD WHEN I SWITCHED HIM
OVER FROM FORMULA FROM NURSING, AND WITHIN A WEEK HE STARTED
HAVING HUGE EPISODES OF EXPLOSIVE DIARRHEA.
10 TO FIFTEEN TIMES A DAY.
WE TOOK HIM TO HIS PEDIATRICIANS, THEY RULED OUT
PARASITES, A VIRUS, THEY THOUGHT HE HAD A MILK PROTEIN ALLERGY SO
THEN THEY REFFERED US TO SEVERAL G.I.
SPECIALIST THAT ALL THOUGHT THE SAME THING, SO WE SWITCHED HIS
FORMULA PROBABLY NINE TIMES, AND INSTEAD OF THE SYMPTOMS GETTING
BETTER THEY CONTINUED TO GET WORSE.
FINALLY WE TOOK HIM TO THE E.R.
AND THEY SAID HE WASN'T LEAVING THE E.R.
THEY DID SOME TEST AND THEY SAID HE'S GOING TO STAY AND HAVE
UPPER AND LOWER SCOPES DONE, AND JUST THANKFULLY THE RIGHT
DOCTORS DECIDED TO DO THE SCOPES ON HIM REALLY SOON AND EARLY ON,
AND THAT'S WHAT GOT US THE DIAGNOSIS.
WELL BECAUSE THIS IS A GENETIC DISEASE, AND BOTH TED AND I DO
NOT DISPLAY ANY SYMPTOMS WHAT-SO-EVER.
WE'RE LOOKING INTO GENETIC TESTING FOR HUDSON, BUT ALSO MY
MOM AND HER TWIN SISTER, BOTH HAVE IBS.
SO I'M ASSUMING THAT IT COULD POSSIBLY BE COMING FROM THAT
SIDE OF THE FAMILY.
FOR US IT TOOK NEARLY FIVE MONTHS TO GET A DIAGNOSIS, BUT
ONCE THE DIAGNOSIS WAS GIVEN TO US, AND WE GOT HIM ON THE
MEDICINE, THINGS CHANGED OVERNIGHT FOR US, AND EVERYTHING
HAS GOTTEN ALOT BETTER SINCE THEN.
NOW DOCTOR, THE HARRIS FAMILY VERY LUCKY TO DIAGNOSE THIS
EARLY.
VERY LUCKY, BECAUSE THE AVERAGE TIME BETWEEN THE ONSET OF
SYMPTOMS, IN THIS RARE DISEASE, AND ACTUAL DIAGNOSIS OF THE
DISEASE IS OVER TWO YEARS.
OH WOW.
SO, OBVIOUSLY THIS FAMILY SAW THE RIGHT PEOPLE, PERSISTED.
I KNOW THEY WENT THROUGH SEVERAL DIFFERENT DIAGNOSIS, BUT THEY
GOT TO THE RIGHT DIAGNOSIS, AND HENCE HUDSON IS DOING EXTREMELY
WELL.
WELL STAY RIGHT THERE DOCTOR, BECAUSE I WANT TO TALK MORE
ABOUT IT, AND UP NEXT WE'RE GOING TO TALK ABOUT TREATMENT,
FINDING SUPPORT, AND HOW ONE MOM'S UNWAVERING INTUITION AND
DETERMINATION FINALLY BROUGHT ABOUT A DIAGNOSIS IN HER
DAUGHTER.
THEY'RE GOING TO JOIN US IN THE STUDIO IN JUST A BIT.
STAY WITH US.
WELCOME BACK EVERYONE.
JOINING ME NOW IS BRANDY RAYBEN, AND HER NINE YEAR OLD DAUGHTER
ADDISON, WHO SUFFERS FROM C.S.I.D., AND OF COURSE DR.
TREEM.
MOM, LET ME START WITH YOU, I KNOW SHE WAS DIAGNOSED AROUND
TWO, TELL ME HOW YOU FOUND OUT.
ADDISON STARTED HAVING SYMPTOMS AROUND THE AGE OF TEN MONTHS,
SHE HAD HAD A PERFECTLY NORMAL INFANT CHILDHOOD, UP UNTIL TEN
MONTHS, WHEN I STARTED WEENING HER FROM BREAST MILK, THEN FROM
TEN MONTHS TO TWENY MONTHS, SHE HAD DIARRHEA EVERYDAY, ALL DAY,
TEN FIFTEEN, UP TO THIRTY DIAPERS A DAY, AND.
NOT NORMAL.
NOT NORMAL AT ALL.
SO, AND WE STARTED SEEING DOCTORS, WE WERE SENT TO
SPECIALIST PRETTY QUICKLY, BUT UNFORTUNATELY WE WENT THROUGH
SEVERAL DOCTORS AND NOBODY JUST COULD BELIEVE THAT REALLY SHE
HAD THAT MUCH DIARRHEA.
AND THOUGHT MAYBE WE WERE EXXAGERRATING A BIT, SO WE TRIED
DIFFERENT THINGS, GOT SEVERAL MIS-DIAGNOSIS.
AND FINALLY ABOUT TWENTY MONTHS OLD, SHE WAS PROPERLY DIAGNOSED
THROUGH A SMALL BOWEL BIOPSY, AND WE RECIEVED THE DIAGNOSIS OF
C.S.I.D.
FROM THAT POINT ON WE SHE TAKES MEDICATION EVERYDAY, SHE'S ON A
SPECIAL DIET, BUT OTHERWISE, WE'VE DONE REALLY WELL ADDISON
IS THRIVING, IS VERY INVOLVED WITH ACTIVITIES, AND WE HAVE THE
OPPORTUNITY TO HELP OTHER FAMILIES, WHO ARE JUST GETTING
STARTED ON THE C.S.I.D.
ROAD.
AND MY BACKGROUND IS A MEDICAL SOCIAL WORKER, SO I HAVE THE
OPPORTUNITY TO USE MY MEDICAL SOCIAL WORK SKILLS, IN ADDITION
TO REAL WORLD EXPERIENCE AND HELPING OTHER FAMILIES AND
PATIENTS WHO ARE ALSO DEALING WITH C.S.I.D., AND THANK
GOODNESS YOU CAUGHT IT ON EARLY, BECAUSE LIKE THE DOCTOR AND I
WERE TALKING, THERE ARE SO MANY PEOPLE THAT CAN WAIT YEARS AND
YEARS AND THEY DON'T EVEN KNOW.
ADDISON LET ME BRING YOU IN, YOUR JUST, YOUR SO DARLING.
YOUR SO BEAUTIFUL, AND I'M GLAD YOUR DOING GREAT.
YOU'VE OBVIOUSLY HAD TO MODIFY YOUR LIFE, TELL ME IF THERE IS A
SPECIAL DIET, THE MEDICATIONS, BUT OBVIOUSLY THAT'S NOT STOPPED
YOU.
WELL I TAKE SUCRATE WITH EVERY MEAL, AND I'M ON A SPECIAL DIET,
BUT I ENJOY RIDING MY BIKE, AND GOING TO SCHOOL, AND DOING GIRL
SCOUTS, AND DANCE.
SO MOM SHE ACTUALLY JUST DOES WHAT EVERY NORMAL CHILD DOES AS
LONG AS SHE TAKES HER MEDICATION.
ABSOLUTELY HER LIFE IS NOT LIMITED BY HER DISORDER.
AND THAT'S AWESOME.
YOU KNOW DOCTOR IT'S INTERESTING BECAUSE SHE MENTIONED SUCRATE,
AND IT REALLY SOUNDS LIKE AN EASY FIX AS SOON AS THE
DIAGNOSIS IS THERE.
YES THIS IS AN ENZYME REPLACEMENT THERAPY.
SO IT REPLACED THE ENZYME THAT'S MISSING IN ADDISON'S SMALL
INTESTINE, AND IT'S AN ENZYME THAT COMES FROM BAKERS YEAST.
AND AS LONG AS YOU TAKE IT WITH EVERY MEAL, REALLY YOU CAN
ALMOST COMPLETELY NORMALIZE YOUR DIET.
THERE HAVE TO BE SOME RESTRICTIONS, BUT I THINK IT CAN
MAKE CHILDREN LIKE ADDISON FEEL NORMAL, THEY GO TO SCHOOL THEY
PARTICIPATE, THEY'RE NOT AFRAID OF WHATS GOING TO HAPPEN TO
THEM.
AND I THINK THAT'S BEEN A TREMENDOUS ADVANCE FOR US.
AND THAT'S THE KEY.
THE DOCTOR AND I WERE TALKING ABOUT IT A FEW MINUTES AGO, AND
WHAT YOUR DOING.
JUST CREATING THAT AWARENESS RIGHT MOM.
YES, ABSOLUTELY.
WE KNOW THAT THERE ARE PROBABLY UNDER-DIAGNOSED FAMILIES OUT
THERE SO WE JUST WANT TO BUILD A AWARENESS ABOUT C.S.I.D., AND SO
IF A PATIENT HAS ONGOING SYMPTOMS THEY CAN SEE THEIR
PHYSICIAN.
I'M GOING TO END WITH YOU BECAUSE YOUR JUST ABOSLUTELY
BEAUTIFUL, AND I LOVE YOU.
IF SOMEONE OUT THERE MAYBE TODAY OR TOMORROW IS MAYBE FINDING OUT
THAT THEY HAVE C.S.I.D.
WHAT WOULD YOU TELL THAT CHILD?
WELL, YOU DO HAVE TO TAKE MEDICINE EVERYDAY, BUT REALLY
YOU CAN ACT NORMAL LIKE ANY OTHER NORMAL KID.
I COULDN'T HAVE SAID IT BETTER.
THANK YOU SO MUCH.
GOOD LUCK TO YOU.
GOD BLESS YOU.
MOM THANK YOU SO MUCH.
DOCTOR THANK YOU FOR THE INFORMATION.
AND IF YOU'D LIKE ADDITIONAL INFORMATION HEAD TO
CSIDCARES.ORG, C.S.I.D.
PATIENTS AND CAREGIVER CAN LEARN MORE ABOUT SUPPORT, TREATMENT,
EDUCATION, AND MUCH MORE.
ALSO.
Q.O.L.
MEDICAL HAS INITIATED A RESEARCH STUDY FOR CHILDREN WHO HAVE BEEN
DIAGNOSED WITH I.B.S., RECURRING DIARRHEA, OR I.B.S.
WITH CURRENT ABDOMONAL PAIN.
TO DETERMINE WHETHER ANY OF THIS MAY ACTUALLY HAVE C.S.I.D.
SO THAT WEBSITE, CHECK IT OUT, CSIDGPS.COM, THAT'S CSIDGPS.COM.