SUNY Upstate's VCFS center in need of funding for genetic disorder research
Dr. Robert Shprintzen first identified a genetic disorder that is second only in prevalence to Down syndrome. His patient Quinn Bradlee, son of Ben Bradlee and Sally Quinn of the Washington Post, featured Shprintzen and the disorder, Velo-Cardio-Facial Syndrome, in a new book, "A Different Life," which 27-year-old Quinn co-authored. He was just 14 years old when Shprintzen diagnosed him as having the syndrome.
"A woman from the National Institute of Health who was familiar with my research and clinical interests in VCFS referred Ben and Sally to me when Quinn was a young teen," Shprintzen said. "I have watched him grow into a young man of exceptional character, and his coming forward to speak of his problems and to share his experience with the world is laudable and invaluable to both scientists and those who have the same problems."
Shprintzen, who also contributed several chapters to the book, and Bradlee are promoting "A Different Life" to create a greater awareness about VCFS. They've appeared on national news and talk shows such as NPR's Diane Rehm Show, Good Morning America, the Newshour with Jim Lehrer and ABC's The View.
VCFS is a multiple anomaly syndrome caused by a deletion of DNA from the chromosome 22. Close to 200 disorders might occur in VCFS, also referred to as Shprintzen syndrome, covering nearly every organ system in the body, with broad-reaching effects on development and behavior including speech, language, personality, mood, learning, attention and temperament. Research done by SUNY Upstate scientists has been instrumental in defining the problems associated with the syndrome. Some major problems include speech disorders, heart anomalies, feeding problems, ADD/ADHD, psychiatric illness, immune disorders and cleft palate.
In babies, the most common symptoms of VCFS are congenital heart disease or cleft palate, while in adults, symptoms are often psychiatric, Shprintzen said. In school-age kids, indicators include speech and language impairment or learning disabilities.