Robert Shprintzen featured in patient's new book on living with VCFS

SYRACUSE, N.Y.— SUNY Upstate Medical University professor Robert J. Shprintzen, Ph.D., and Velo-Cardio-Facial Syndrome (VCFS), a genetic disorder that he first identified in 1978, are prominently featured in A Different Life, a just-released book co-written by 27-year old Quinn Bradlee who at the age of 14 was diagnosed by Shprintzen as having the syndrome.

Shprintzen and Bradlee are promoting the book and creating greater awareness of VCFS through appearances on national news and talk shows, most recently on NPR's Diane Rehm Show, Good Morning America, the Newshour with Jim Lehrer and on ABC's The View.

Quinn, the son of Ben Bradlee, vice president and former executive editor of The Washington Post, and Sally Quinn, Washington Post columnist and bestselling author, is no stranger to SUNY Upstate. He and his crew visited the campus a few years ago to film a documentary on this condition that is flagged by a myriad of medical and associated issues, including congenital heart defects, abnormal speech patterns and learning disabilities. The video can be seen on the Web site for the VCFS International Center at Upstate at http://www.upstate.edu/uh/ent/vcf/

A Different Life traces Bradlee's life story of growing up with VCFS and other learning disabilities. It also offers a revealing look at his parents determination to help him overcome the emotional and psychosocial issues that result from a VCFS diagnosis.

"A woman from the NIH 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. Throughout the years, Quinn, Ben and Sally have remained strong advocates in our efforts to create greater awareness of VCFS among our global communities and for that we are appreciative."

Shprintzen contributed several chapters to the book, offering his expertise on the syndrome and his insights into how Quinn was physically and personally affected by VCFS, also referred to as Shprintzen syndrome.

Shprintzen also writes about the work of the VCFS International Center, founded by Shprintzen and collaborating colleagues from the Schneider Children's Medical Center of Israel, and on the VCFS Educational Foundation Inc., an international not-for-profit organization founded by Shprintzen in 1993.

Shprintzen is professor of otolaryngology and communication sciences, professor of pediatrics, and director of the Communication Disorder Unit at SUNY Upstate. In the book he also credits Wendy Kates, Ph.D., associate professor of psychiatry and behavioral sciences at SUNY Upstate, and others for their VCFS research efforts.

Shprintzen, a resident of Manlius, recently published a comprehensive book about VCFS, "Velo-Cardio-Facial Syndrome, Volume I" published by Plural Publishing of San Diego. Volume II will follow later this year.

VCFS is a genetic multiple anomaly syndrome second only in prevalence to Down's syndrome. It is caused by a deletion of DNA from the chromosome 22. More than 190 disorders might occur in VCFS, 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 by scientists at SUNY Upstate has been instrumental in defining the problems associated with the syndrome.

VCFS was not recognized until 1978, at which time Shprintzen described 12 children with the disorder while he was on staff at the Children's Hospital at Montefiore Medical Center and the Albert Einstein College of Medicine in the Bronx.

For more information about VCFS, visit http://www.upstate.edu/uh/ent/vcf/

For more information about A Different Life, visit http://www.friendsofquinn.com/

Dr. Robert Shprintzen and Quin Bradlee appear on the Diane Rehm Show