A life changed with genetic medicine.
At four years old, Rian’s body was still like a newborn’s — she couldn’t support her own head, she could not eat on her own, or play the way other children like her brother could. She was born with an ultra-rare genetic disease called Aromomatic l-amino acid decarboxylase deficiency (AADCd) also commonly referred to as Pediatric Parkinson’s.
“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.”
Thankfully, Rian was eligible for a innovative gene therapy surgery developed by leading gene therapist, Dr. Krystof Bankiewicz. In September of 2019, Rian became one of the first recipients of this transformative genetic medicine that had the promise of giving her the life her parents only dreamed about.
Within weeks of treatment, Rian began to move, hold her head up and then began to grab objects. Now, at six years old, she can sit on her own and is starting to walk. She can go to the park, eat chicken nuggets, and laugh with her brother.
“It really is modern day miracle stuff,” said Rian’s mother. “The science is absolutely miraculous and we are so, so grateful.”