KMBC 9: Wichita family gets answers on daughter's rare disorder thanks to Children's Mercy
By Donna Pitman
Like most 8-year-old girls, Celia Steele loves watching movies with music. But, Celia is rare. When she and her twin brother were babies, her parents noticed differences between them. Celia’s mom Teresa Cruz-Steele says it was painfully obvious by the time the pair turned 2.
Celia spent years seeing doctors without getting answers as to why she was different. She is nonverbal, suffers from seizures, has low muscle tone and cannot walk. As the years passed, Cruz-Steele says they began to feel isolated and started to lose hope.
In 2019, that hope was restored with a phone call from Children’s Mercy Hospital’s Genomic Answers for Kids program. They were able to match characteristics Celia has to other people through a sort of database or repository of patients with unexplained symptoms.
“We were able to find out that she has these mutations that were just recently described to cause the kind of disease that she has," said Dr. Tomi Pastinen, the program’s director.
The team at Genomic Answers for Kids discovered Celia has PDE2A. She’s one of only five people in the world known to have the condition and the only one in the United States.
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