Local Child Is One Of 250 In World With Disorder

September 18, 2013
By Julie Montanaro

A Tallahassee second grader is coping with a rare genetic disorder.

She is one of only about 250 people in the entire world to be diagnosed with something called Pitt Hopkins Syndrome.

Her mother hopes sharing her story might help other struggling families.

Ragan Thursby is a second grader at DeSoto Trail elementary. She doesn't speak and struggles to walk, but the excitement of circle time shows on her face.

She's seven now. but even when Ragan was a baby, her mother knew something wasn't quite right .

"Ragan didn't roll over, she wasn't holding her head up," her mother Kasi Thuirsby said. "There are just certain things as a mom you look at your kid and think they're not hitting these milestones you see all these other kids hitting at about the same age."

Ragan hyperventilates and suffers severe stomach pain. She's been to children's hospitals in Miami, Gainesville and Jacksonville and even spent a week at the National Institutes of Health as scientists there tried to figure out what was wrong.

"Twenty geneticists, neurologists, neurodevelopmental specialists and they too were stumped," Thursby said.

It took Ragan's mom six years to get a diagnosis. Pitt Hopkins Syndrome.

"Had you ever heard of Pitt Hopkins before this?"

"Never."

It's a rare disorder caused by a mutation on the 18th chromosome.

So on this 18th day of September, her mother and other families with Pitt Hopkins are trying to spread the word. They're pushing for better treatments and more research and trying to reach out to other parents who may also be desperate for a diagnosis.

"If a lot more people knew about this, I think a lot more people would be like, wait a minute, she looks like my child, she behaves like that, can we have her tested?" Thursby said.

Ragan's family hopes the classmates who wave to her in the hallway and call her by name will learn about Pitt Hopkins Syndrome and tell their parents. So that other rare and special children will know they are not alone.

"Don't be afraid of something you don't know. Learn about it. Engage it. Embrace it," she said.

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