Neimann-Pick Disease Type C is a genetic disease that's
often referred to as childhood alzheimer's.
Kids who develop as normal .
healthy babies and toddlers can start showing signs
of physical and cognitive decline by first grade.
But now a promising treatment appears to slow down
the progression of the disease.
Martie Salt has the details.
HAYLEY KOUJAIAN coo-JIGH-enn WAS BORN A HAPPY, HEALTHY,
Yeah, she was a perfect little girl, did all the normal,
made her milestones.
Go, Hayley! Run! Run! Hustle, hustle!
And then, around kindergarten, first grade, we could
see that she was, you know, a little bit behind her
BY THE TIME SHE WAS TEN YEARS OLD, HAYLEY WAS IN A
SCHOOL FOR STUDENTS WITH DISABILITIES AND BEGAN HAVING
Yeah! You did it again!" "You did it again." :06
Originally it was referred to as childhood Alzheimer's
because some of the proteins that were accumulating
were similar to the proteins that accumulate in Alzheimer's
disease, and because it's a progressive dementia.
WHILE MOST CHILDREN DON'T LIVE PAST AGE 20, HAYLEY'S
PROGRESSION, AT 17 YEARS OLD NOW, APPEARS TO HAVE
SLOWED DOWN, AND THE SEVERITY OF HER SYMPTOMS HAVE
REVERSED EVER SINCE STARTING A DRUG CURRENTLY IN CLINICAL
TRIALS CALLED CYCLO-DEXTRIN.
If you give it before the cells have all degenerated,
you can see protection where cells, where not as many
of the cells in the brain die.
As we started increasing the dosage we could definitely
start seeing improvements.
Better memory, better gait, swallowing was great.
Did you have fun?" "Yeah." "Give me five.
Give me nose kiss." :03
THE TRIAL IS NOW IN PHASE TWO.
IT'S NOT A CURE, BUT THE KOUJAIANS coo-JIGH-inns HOPE
IT WILL BUY THEM TIME UNTIL A CURE IS FOUND.
I'M MARTIE SALT, REPORTING.