Tiana Vega
Victor and Jeannette Vega of Madison, Ala. noticed their daughter, Tiana, was falling behind in her development. They spent two years searching for an answer and finally found one through the Clinical Sequencing and Exploratory Research (CSER) project at HudsonAlpha.
“Tiana was rarely on schedule,” Jeannette recalled. “Or she would hit them and then lose them.” The toddler spoke late and only a few simple words such as “Mama” and “bye.” Then she inexplicably stopped talking.
The Washington Post sat down with the Vegas, Greg Cooper, PhD, of HudsonAlpha and Martina Bebin, MD, of UAB and Children’s of Alabama to discuss Tiana’s journey to a diagnosis of Rett syndrome, a rare disease that affects about 1 in 10,000 females worldwide.
Read the full story in “Medical Mysteries.”
If you, or someone you know has symptoms that may be due to an undiagnosed genetic disorder, contact North Alabama Children’s Specialists at 256-533-0833 ext. 216 to learn more about ongoing genome sequencing research studies.
