>> WE HAVE SEEN CASES IN THE PAST THAT HAVE UNDERGONE
MULTIPLE SURGERIES ELSEWHERE WITHOUT HAVING
THE POSSIBILITY OF DOING THE IMAGING THAT WOULD LOCALIZE
THOSE LESIONS.
>> THE WORST CASE SCENARIO IS TO DO A
NEAR TOTAL PANCREATECTOMY ON A CHILD,
LEAVE A PORTION OF THE HEAD OF THE PANCREAS AND HAVE
FOCAL LESION PROVE TO BE WITHIN THAT RESIDUAL
PANCREAS.
>> THE DOCTOR TOLD US THAT SHE WOULD GET BETTER IN THREE
OR FIVE DAYS.
AFTER TWO WEEKS, THE FIRST SURGERY WAS SCHEDULED SO
THEN I STARTED TO LOOK ALL OVER THE INTERNET TO SEE IF
THERE'S ANOTHER PLACE THAT COULD HELP HER.
AND I FOUND CHOP THE DAY OF THE SURGERY.
I TOLD HER THE SITUATION THAT MY DAUGHTER IS GOING
INTO THE OR IN ABOUT HALF AN HOUR AND SHE'S LIKE,
NO, DON'T LET THAT HAPPEN.
WE CAN HELP YOU OVER HERE AND THERE'S DIFFERENT TESTS
THAT WE CAN DO THAT CAN HELP YOUR DAUGHTER.
SO WE CANCELED THE OPERATION.
THE PET SCAN WAS CONSIDERED EXPERIMENTAL SO THE STATE
DENIED US TO COME.
WE WENT WITH THE FIRST SURGERY,
IT DIDN'T GO WELL.
A WEEK LATER WE WENT WITH A SECOND SURGERY,
AND THAT DIDN'T GO WELL EITHER.
>> IF THE LESIONS ARE IN THE HEAD OF THE PANCREAS DOING
A 98 PERCENT PANCREATECTOMY WOULD NOT ACHIEVE ANY GOOD
RESULTS BECAUSE THOSE CHILDREN WILL CONTINUE
TO HAVE SEVERE HYPOGLYCEMIA AND NOW YOU HAVE REMOVED
PANCREAS THAT WAS NORMAL.
>> SHE HAD THESE SEIZURES, AND SHE WILL HAVE DISABILITIES.
WE DON'T KNOW WHAT LEVEL OF DISABILITIES SHE'LL FALL IN.
BUT, FOR OUR CASE IF WE WERE HERE EARLIER,
I THINK MY DAUGHTER WOULD HAVE HAD A MUCH, MUCH
BETTER LIFE.
>> THE BEST CASE SCENARIO FOR A BABY THAT IS BORN WITH
HYPERINSULINISM IS THAT THE DIAGNOSIS IS MADE AS EARLY
AS POSSIBLE.
>> WE'VE HAD THE EXPERIENCE OF HAVING A FAMILY DELIVER HERE
AT OUR SPECIAL DELIVERY UNIT,
AND WE KNEW AHEAD OF TIME THAT THE BABY HAD
HYPERINSULINISM.
>> IN MOST CIRCUMSTANCES THAT'S NOT THE CASE.
IN MOST CASES THE DIAGNOSIS IS MADE AFTER BIRTH.
BECAUSE SOMETIMES IN POPULATIONS SUCH AS THE ASHKENAZIC JEWS,
WE KNOW EXACTLY WHAT MUTATIONS ARE MORE COMMON
IN THAT POPULATION SO PRENATAL TESTING IS SOMETHING THAT
COULD BE DONE.
>> MY HUSBAND AND I BOTH ARE OF EASTERN EUROPEAN JEWISH
HERITAGE, AND SO MY REGULAR OB PRACTICE JUST OFFERED US
THE STANDARD GENETIC TESTING PANEL WHICH WE ACCEPTED.
REALLY DIDN'T THINK ANYTHING OF IT.
AND A COUPLE OF WEEKS LATER IT CAME BACK THAT I WAS
A CARRIER FOR THIS THING CALLED CONGENITAL
HYPERINSULINISM.
WE WERE REFERRED IMMEDIATELY TO CHOP.
AND PRETTY QUICKLY WE MET WITH DR. STANLEY
AND DR. ADZICK AND GENETIC COUNSELORS AND MATERNAL
FETAL MEDICINE PEOPLE AND THEY SORT OF EXPLAINED TO US
STEP-BY-STEP EXACTLY WHAT WE COULD EXPECT TO HAPPEN.
>> AS SOON AS THE BABY WAS BORN WE HAD AN IV IN THE
BABY, WE WERE GIVING THE BABY SUGAR THROUGH THE IV.
SO THAT BABY NEVER EXPERIENCED LOW BLOOD SUGAR.
AND THAT'S REALLY, IF YOU KNEW YOU WERE GOING TO HAVE
A BABY WITH HI, YOUR GOAL IS FOR THEM NEVER TO HAVE
EXPERIENCED THE LOW BLOOD SUGAR.
WHETHER THEY HAVE FOCAL DISEASE OR DIFFUSE DISEASE
DOESN'T MATTER.
THE GOAL IS THE SAME.
>> EARLY TREATMENT WAS KEY BECAUSE SHE NEVER HAD A
SEIZURE; BECAUSE SHE NEVER HAD BRAIN DAMAGE AS A RESULT
OF THE SEIZURE.
SHE HAS DEVELOPED NORMALLY.
SHEIRA IS AN AMAZINGLY FUN AND SWEET AND INCREDIBLY
AFFECTIONATE KID.
SHE'S REALLY VERY, VERY SPECIAL.