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A rare condition affecting 500 children in the world; one case is in WNY

Pitt-Hopkins Syndrome is a genetic disorder affecting a child's development.

BUFFALO, N.Y. — Monday, Sept. 18, is Pitt-Hopkins Awareness Day.  It's a rare condition that affects a child's development.

At Aspire of WNY, 1st grader Nora Conta isn't your typical first grader. She's special. Little 6-year-old Nora has a rare condition, called Pitt-Hopkins Syndrome. 

It's a genetic disorder affecting a child's development. According to research, the syndrome is seen between 1 and 300,000 children. Nora is one of 500 children in the world to have it. 

Five-and-a-half years ago, her mother, Marie Conta, noticed Nora wasn't meeting typical kid milestones. Marie says Nora was in a vegetative state. So Marie went to the doctors for help, but they couldn't find anything. 

"They basically said there's nothing wrong with her, and it's just- it is what it is," says Conta. 

The results didn't settle well with Marie. That's when she signed Nora up for a rare genome project. Which was 11 months of testing and produced no results. It wasn't until last year that Marie got a call from doctors saying Nora has Pitt-Hopkins Syndrome. 

"It's devasting to hear because you're starting to feel like, you know your child, and you know something is going on," Marie says.

Marie knew she couldn't do this alone and help from family still wasn't enough support. Then Aspire of WNY stepped in. There, she has her vision and speech teachers, Jennifer Vacanti and Maia Kozak; also known as Nora's Ninjas. 

"I feel like early intervention is the most important thing. Don't feel that there's a stigma attached to a child getting speech or  OTPT vision," Vision teacher Jennifer Vacanti says. 

Aspire is a school that helps children and adults with disabilities reach their full potential and live independently. Nora has been going here since pre-K. She even has fans who like to stop by her classroom. Until a cure is found, Pitt Hopkins Awareness Day reminds Nora and her Ninjas to keep fighting and never give up. 

"It's always a fight. But we will never give up, and we won't ever give up," Marie says. 

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