Huntsville genetics program diagnoses children with previously unexplained conditions

HUNTSVILLE Ala. -- A Madison family finally found a diagnosis for their four-year-old daughter thanks to the work of a Huntsville childhood genetic disorders program. Victor and Jennette Vega knew their daughter Tiana was falling behind, but doctors had no diagnosis for her condition.

"I would say things like, 'Tiana come on its time to go, get in the truck.' And she would walk outside and she would get into the truck and climb into her car seat and everything," said Jennette Vega, Tiana's mother. "And one day I asked her to do that and she just stopped."

Tiana went through brain imaging, genetic testing, chromosome analysis, and she eventually joined HudsonAlpha's Clinical Sequencing Exploratory Research project. "Our major goal is to use the power of DNA sequencing to identify the causes of the symptoms that are found in children with otherwise unexplained intellectual and developmental disabilities," said Dr. Greg Cooper, a faculty investigator at HudsonAlpha who is leading the CSER project.

Tiana was diagnosed with Rett Syndrome, a rare neurodegenerative disorder, almost exclusively seen in girls, and affects about one in 10,000 worldwide.

"When you first find out about it. It's very painful, it changes your whole outlook on life," said Vega. "And that what you wished for your kids just may not happen."

The CSER program has currently diagnosed over 100 children, that before had unexplained conditions. And they are hoping to diagnose 150 patients by end of the program in May.