Pierce City family raises awareness for rare genetic disorder

Less than 70 people diagnosed with DeSanto-Shiwani Syndrome worldwide.

PIERCE CITY, Mo – 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.

“Doctors were telling us that that’s not something that can happen. Seizures don’t cause that,” says Hilton.

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

“We thought we’ll try the ER. See what they say. Just to go in immediately,” says Justin Cartmell, Patrick’s dad.

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. Justin and Elizabeth say he loves to do what other kids do, like play with toys and spend time outside.

“He most generally is happy. Almost all the time. Unless he’s doing something and he has to be told no, then he doesn’t wanna be there. I mean, overall he’s pretty healthy too,” says Cartmell. “He’s amazing. Ultimately, he’s just amazing.”

According to the DeSanto-Shinawi Syndrome Foundation, there’s less than 70 people around the world who have been diagnosed with the disorder, something that made it hard to find anyone that could treat the symptoms.

But that’s something they’re trying to change.

They organized Dash for DESSH for the first time in Pierce City, a run and walk aimed at raising funds for research on treatments and diagnosis, with the personal goal of raising awareness so other parents don’t have to go through what they did.

“When you go to these doctor visits, and they don’t know anything. They’re like, well, here’s this Facebook group. That’s all you get with a rare disease,” says Hilton. “So we want to do something to change that.”

You can learn more about DESSH here: https://www.dessh.org/