‘Her body was a prison’: How a new gene therapy changed the lives of two Canadian girls

DM

A new gene therapy for an extremely rare disorder has offered two Canadian children a new chance at life, allowing them to move on their own after years of being trapped within their own bodies. The disease is called AADC deficiency, and known more commonly as ‘pediatric Parkinson’s’. It’s a debilitating genetic disorder that effectively cuts off communication between cells in the nervous system, affecting movement. For Rian, a little girl from Toronto, this meant that at four years old, her body was still like a newborn’s — she couldn’t support her own head, eat on her own, or play the way other children could. “She had absolutely no functional, purposeful movement,” Rian’s mother, Shillann Rodriguez-Pena, told CTV News. “It essentially was like her body was a prison that she was trapped in. And we could see the sparkle in her eye, we could always see that she was in there and the desperation of trying to get her out, and how to help her out — it was torturous, truthfully.”

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