[Text on screen: The Ohio State University Wexner Medical Center
Gene therapy for AADC deficiency changes child's life]

Narrator: For ShillAnn and Mike Rodriguez Pena their pregnancy with their daughter was seemingly no different from their firstborn son’s. After Rian’s birth, ShillAnn suspected something was wrong in her daughter's first weeks.

ShillAnn Rodriguez Pena: By the time she was 3 months old, it was quite obvious that she wasn't making any efforts to hold her head up during tummy time. There was no batting at toys, there was no movement. There was nothing. Her hands were still fisted.

[Photos of Rian, before age 1, show her wearing an oxygen masks, cannulae and IVs, being medically assessed in various ways.]

She was tested for well over a thousand diseases. For the next seven months it was spinal taps, MRIs, nerve conduction studies, muscle biopsies, bloods, bloods, bloods. The trauma that she went through, and I, was unreal.

So we got the answer. It was the month before she turned 1, so she was 11 months old. So she was diagnosed with AADC deficiency, aromatic L-amino acid decarboxylase deficiency. It's a deficiency in the neurotransmitter, serotonin and dopamine.

[Rian smiles in an airplane seat. The family of four, with Rian in a stroller, poses in front of an airport sign that reads "Welcome to Warsaw".]

Narrator: Through the AADC Trust in England, they learned about an innovative gene therapy being tested in clinical trials in Poland and the United States. When Rian turned 5, she underwent the brain surgery in Poland and became the 12th child in the world to receive AADC gene therapy.

Dr. Krystof Bankiewicz and Dr. Russell Lonser at Ohio State helped develop the pioneering AADC gene therapy. Most importantly, Drs. Bankiewicz and Lonser invented the surgical technique for delivering gene therapy to a precise location in the brain, where it begins restoring the body's ability to produce dopamine and serotonin.

Rodriguez Pena: It was an eight and a half hour brain surgery that changed her life. That is the day that our daughter was reborn.

[Triumphant music plays as Rian walks unassisted toward the camera, smiling.]

Ever since then, it's been three years and she's still crushing milestones every month. Two months after surgery, she started holding her head up. Then she started batting for toys. Then she started sitting. Then she started rolling.

And we, we celebrate everything. Every small, every big milestone, all of the hard work in between. And we're just we're very, very thankful and forever indebted to Dr. Bankiewicz and just this incredible science.

[Rian walks unassisted on a residental sidewalk.]
Rodriguez Pena: Good job Rian! I love you, Rian.

Narrator: Drs. Bankiewicz and Lonser along with other physicians and scientists at The Ohio State Neuroscience Institute continue to treat children with AADC. They also are conducting clinical trials to determine whether gene therapy can help the millions of people suffering from the muscle movement and brain disorders Parkinson's, Alzheimer's and Huntington's disease.

[Text on screen: The Ohio State University 
Wexner Medical Center
For more information, visit
wexnermedical.osu.edu]