Kansas City,
09:37 AM

KOAM: Pierce City family raises awareness for rare genetic disorder

By Zachary Dodge

What would you do if your six month old baby had a seizure, and no one knew why?

“He almost kind of unlearned everything. He couldn’t use the utensil. He couldn’t sit up on his own,” says Elizabeth Hilton, Patrick’s mom.

A terrifying thing for brand new parents Elizabeth Hilton and Justin Cartmell.

So they took their six-month-old baby Patrick to Children’s Mercy in Kansas City hoping for some answers.

It wasn’t until close to a year later that they learned Patrick was born with DeSanto Shinawi Syndrome.

A rare genetic disorder that causes developmental delay, intellectual disability, behavioral problems, feeding difficulty, and seizures.

“it was a relief when we got the diagnosis. But there’s definitely been it’s challenges for sure,” says Cartmell. “The learning curves, those are pretty tough. Trying to see… you do things repetitively and don’t get any results. It’s a little hard to take from time to time. But, whenever those results show up, nothing else can replace it.”

Patrick is three now, and is doing pretty well.


Read the full story via KOAM

Learn more about Genetic Research at Children's Mercy