NEW YORK (CBS) ― A Brooklyn mother is on a mission to save her baby from a disease so rare, that she is searching for other children who have it.
It’s called “Sanfilippo Syndrome” and simply put it means the body can’t process sugar.
CBS 2 HD recently met a year-and-a-half-old boy named Jonah and his mother, Jill, and their fight for life.
“He’s so bright. He’s so amazing. He’s so sociable,” Jill Wood said.
He’s that 1 in a million child every parent believes their own son or daughter is. One in a million. He’s Jill and Jeremy Weishaar’s boy. Or more exactly, in Jonah’s case, one in 1.14 million. That’s how many kids have the rare disease Jonah was born with “Sanfilippo Syndrome,” a genetic disorder passed on from both parents that does not allow the child’s body to process sugar. It collects first in the brain and slowly kills the child. Sometimes, they live to be maybe 20, if they’re lucky.
“Like, you go to the park, and I see the kids playing soccer and I wanted Jonah to be able to play soccer! You know, I wanted him to be able to play baseball. I had all these plans for him, you know,” Jill said.
But they are fighters. And they are looking for other parents; other children.
Warning signs include:
* A 1-year-old has an enlarged head and then an MRI then shows lesions, where sugar may be collecting
* Or is a child at 3 or 5 years is developing coarse facial features
* Or their ability to learn declines, growth slows or there are delays in their speech
Doctors could miss this, but Jill and her husband are looking for you to get the research started for a cure. Ten children like Jonah will be monitored by the University of North Carolina. And that data could in turn get funding for research by a pharmaceutical company.
“If it doesn’t work out … I know Jonah was able to help the next generation of kids,” Jill said.
On Friday, Jonah will be 2 years old.
(© MMX, CBS Broadcasting Inc. All Rights Reserved.)