Phoenix researchers help 12-year-old Valley girl walk, talk - KLTV.com-Tyler, Longview, Jacksonville, Texas | ETX News

Phoenix researchers help 12-year-old Valley girl walk, talk for first time

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PHOENIX (CBS5) -

Renee and Scott Valint never thought they would be able to see their 12-year-old daughter, Shelby, dance in their family room.

"She was pretty much a vegetable on the couch," says mother Renee Valint. "I did everything for her. She couldn't sit up. She couldn't walk, she couldn't talk. I bathed her."

For 10 agonizing years, Shelby's parents searched high and low for a reason why this was happening to their little girl.

"I didn't understand how her symptoms could be so severe and there not be a clear cut answer," says Renee Valint.

"A lot of families experience what we call the diagnostic odyssey," says Matthew Huentelman, who is co-director of TGen's Center for Rare Childhood Disorders.

TGen is the Translational Genomics Research Institute based in downtown Phoenix. The company maps the human genome through a simple blood test. Researchers look for abnormalities in a person's DNA sequence and then attempt to identify solutions.

"We found that Shelby had a mutation. A change in her blueprint," says Huentelman.

Shelby's brain was not processing dopamine properly, a chemical that affected her balance and muscle control. Doctors put her on a medication used on Parkinson's patients, and within just three months, Shelby went through a dramatic transformation for the better.

"I could talk, I could walk. I was out of wheelchair," says Shelby.

"The results were dramatic. It was really nothing short of a miracle," says Huentelman.

Shelby was singled out by Gov. Jan Brewer in her State of the State Address to highlight the groundbreaking work TGen is doing in Arizona.

Last year, TGen launched a Center for Rare Childhood disorders where they hope to help kids just like Shelby.

It took 10 years and $3 billion to map the first human genome. Now, researchers are able to do it in about a week and it costs quite a bit less.

Copyright 2013 CBS 5 (KPHO Broadcasting Corporation). All rights reserved.

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