Atlanta Teenager's Book on Fragile X Syndrome is Personal Account
of How Disabilities Affect Families
ATLANTA--Carly Heyman is a 16-year-old girl who knows first-hand the
tremendous challenges of a major disability not her own, but that
of her 22-year-old brother, Scott. When Scott was four years old, he
was diagnosed with fragile X syndrome, which is the leading cause of
inherited mental retardation.
Scott was diagnosed by geneticist
Stephanie Sherman, PhD, at Emory University School of Medicine. Stephen
T. Warren, PhD, chair of the Department of Human Genetics, directs one
of the oldest and largest research programs on fragile X syndrome in
the world, housed at Emory.
Carly has written a new book,
entitled My eXtra Special Brother, published this month 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
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 students in Emory University
School of Medicine about the effects of disabling genetic diseases not
only on the affected individuals but on their families.
Proceeds from the book will
benefit children and families with fragile X syndrome through the non-profit
Fragile X Association of Georgia. Emory University’s genetics research
team has been closely involved with patients and families through the
Fragile X Association.
Drs. Warren and Sherman are
international authorities on fragile X syndrome and have been performing
research on fragile X syndrome since the early 1980s. Dr. Warren led
the international team of scientists who in 1991 discovered the FMR1
gene, which is responsible for fragile X syndrome. Most of our current
understanding of this syndrome and its consequences come from the research
carried out by Dr. Warren and his colleagues over the past decade.
In 1993, expanding on their
initial discovery of the fragile X gene, Dr. 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.
Dr. 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 mouse model 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," Dr. Warren says. "Our involvement with fragile
X families and the concern of family members like Carly make it a very
personal quest for us."
Carly will sign copies of
her book at several Atlanta locations during the upcoming month:
Sunday, March 9
Chapter 11 Books
Monday, March 10
The Epstein School
Wednesday, March 12
College Park. Georgia
Saturday, March 29
Johnson Ferry Rd.
Wednesday, April 2 2:30 pm
Wheeler High School