March 17, 2003

Teenager's book a personal account of fragile X

By Janet Christenbury

Carly Heyman is a 16-year-old girl who knows firsthand the tremendous challenges of a major disability––not her own, but that of her 22-year-old brother, Scott. When Scott was 4, he was diagnosed with fragile X syndrome, the leading cause of inherited mental retardation.

Scott has worked since he was 11 with human genetics Professor Stephanie Sherman, whose department chair and colleague, Stephen Warren, directs one of the oldest and largest research programs on fragile X syndrome in the world.

Carly has written a new book, entitled My eXtra Special Brother, published in February by Lightening Source (a subsidiary of Ingram Books), in which she describes with loving candor her personal experiences with her older brother, including her struggles, frustrations and exhilaration as she learns the skills to cope with his limitations.

As Scott’s greatest fan from a very young age, Carly has grown from simple acceptance of her older brother to rejoicing in his individuality. By sharing her journey with other siblings of children with special needs, Carly hopes to inspire closer family relationships.

Carly’s new book reflects a growing public interest in children with fragile X syndrome and the positive contributions they and their friends and families often make to their communities. A widely reported story recently described a high school senior with fragile X syndrome who touched hearts across the country when he was encouraged to score a touchdown for his football team.

“The Heymans have been a fantastic family to work with,” Sherman said. “Scott has been a delight. It has been fun to watch him grow though the years and progress to where he is today, and it’s all because of the support from his family and his sister and his brother.”

Carly has spoken to a number of school and community groups about her personal experiences with fragile X syndrome. On April 3 she will speak to Emory medical students about the effects of disabling genetic diseases—not only on the affected individuals, but on their families.

Proceeds from Carly’s book will benefit children and families with fragile X syndrome through the non-profit Fragile X Associ-ation of Georgia. Emory’s genetics research team has been involved closely with patients and families through the Fragile X Association.

Warren and Sherman are international authorities on fragile X syndrome and have been performing research on fragile X syndrome since the early 1980s. Warren led the international team of scientists who in 1991 discovered the FMR1 gene, which is responsible for fragile X syndrome. In 1993, expanding on that discovery, Warren and his colleagues discovered FMRP, the protein expressed by the normal FMR1 gene, and learned that fragile X syndrome occurs when the FMR1 gene does not produce the FMRP protein. The suppression of that protein is responsible for the symptoms of the disease, which include mental retardation, attention deficit disorder and connective tissue disorders.

Warren recently created a new mouse model of fragile X syndrome and is beginning to test drugs that might reactivate the inactivated gene responsible for the syndrome. This represents the first real model of fragile X syndrome that can be used to develop therapeutic approaches.

“We are extremely hopeful that, with continued research, we will soon have a therapeutic treatment for fragile X syndrome,” Warren said. “Our involvement with fragile X families and the concern of family members like Carly make it a very personal quest for us.”

Carly has appeared at book signings around Atlanta during March. Two upcoming appearances include Saturday, March 29, at 2 p.m. at the Media Play on Johnson Ferry Road; and Wednesday, April 2, at 2:30 p.m. at Wheeler High School in Marietta