Little girl suffers from rare chromosome disorder - Cleveland 19 News Cleveland, OH

Doctors stumped by little girl suffering from rare chromosome disorder

Cherysh suffers from a rare chromosome disorder that normally affects little boys. (Source: Little Miracle: Cherysh Journey Facebook Page) Cherysh suffers from a rare chromosome disorder that normally affects little boys. (Source: Little Miracle: Cherysh Journey Facebook Page)
Erica Smith with her daughter Cherysh.  (Source: Facebook: Little Miracle Cherysh Journey) Erica Smith with her daughter Cherysh. (Source: Facebook: Little Miracle Cherysh Journey)

Cherysh Smith, of Cleveland, may look like any other child, but at 21 months old, she is mentally and developmentally comparable to a 9-month-old baby. Cherysh has a severe case of a rare genetic disorder affecting only about 150 children in the world. 

The disorder usually only affects males and in the few cases when females are affected, the symptoms are usually mild.

Erica Smith, Cherysh's mom, says that the toddler has been to the hospital more times than she can count and has already undergone two surgeries.

"It's kind of frustrating because she's been stuck at the 9-months stage since April," says Smith.

She can't yet walk, talk, and hasn't learned how to chew and swallow.

"She has seizures. And then she has a tube that helps her eat," says Dr. Irene Dietz, with MetroHealth Medical Center.

It's a genetic disorder called MECP2 Duplication Syndrome. When Cherysh was given a set of X chromosomes there was an extra arm of genetic material on one of them. So as her body is trying to develop, it's confused on where it should be taking information.

"I think the biggest message from my point as a physician, is that if your child has delays and you're concerned as a parent, when you see your physician, you need to discuss that," says Dr. Dietz.

The other problem is that while she will eventually learn to walk and talk, at some point, probably as an adolescent, her brain will regress and she will forget everything she's learned.

Others with MECP2 have lived only into their 20s. It's not hard to see her mother understands that. 

"It's still a short time. And knowing that there's not many people that have it, I want to have hope that they'll find a way to deal with it. And eventually, it won't have to lead to that," explains Smith.

Smith says she wants to share Cherysh's Facebook Page in hopes of raising awareness about the disorder and possibly getting answers to questions, regarding how to deal with the unique situation. 

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