Syndrome Getting Doctors’ Notice--Finally : * Medicine: Fragile X disorder is the most common type of mental retardation, but until recently there was an amazing lack of knowledge about it.
In 1983, Jeannie Lancaster was worried about her oldest son’s slow development, and her pediatrician urged having the boy tested for Fragile X Syndrome, a little-known and incurable form of inherited mental retardation.
“We were aware of significant problems with our oldest son and had been looking for an answer because we were seeing similarities in our younger son,” Lancaster said. “Our pediatrician attended a seminar on genetic conditions where Fragile X was presented. Based on the little he heard, he called us and said, ‘I think we got it.”’
She had never heard of Fragile X, but agreed to the test. Within days, her son and his brother and sister all had tested positive.
Fragile X Syndrome, the most common type of mental retardation, occurs randomly in about one in 1,000 births. Once lodged in a family, Fragile X can produce generations of retarded men and women.
“There was a lot of emotional roller coaster during that initial time,” Lancaster said of the diagnosis in 1983. “It was compounded because my extended family had questions about their children. I have a sister who has three children who also were diagnosed and another sister with two children who were diagnosed as having Fragile X.”
The Lancaster children were sent to Denver Children’s Hospital and its Fragile X clinic headed by Randi Hagerman, a pioneer Fragile X researcher and widely published pediatrician.
“I was complaining so much about people not knowing about Fragile X that Dr. Hagerman said, ‘Let’s do something about that,’ ” Lancaster recalled.
Hagerman and Dr. Pamela McKenzie, director of Children’s Hospital’s child development unit, in 1984 created the National Fragile X Foundation.
“One of the biggest frustrations was the amazing lack of knowledge of Fragile X among the medical community,” Lancaster said.
That is changing. Earlier this year, the Fragile X cell was identified by researchers at Emory University School of Medicine. The syndrome is characterized by a “fragile site” on one of the arms of the X chromosome. A female has two X chromosomes, while a male has an X and a Y.
“We found so many Fragile X patients in the early 1980s. There was little literature. Nobody knew about this disorder.” There was a great demand for information, Hagerman said.
Lancaster was the foundation’s first newsletter editor and later was a director.
The foundation began with an all-volunteer staff of parents and clinicians. McKenzie remains president, and Hagerman is scientific advisory liaison. Sabrina Jewell-Smart recently became the foundation’s coordinator and first full-time salaried employee.
The foundation now has 24 regional centers nationwide.
Jewell-Smart’s chief objective will be raising money to support research capitalizing on the recent Emory University findings.
“We want everybody in the world to know about the condition of Fragile X so that people who have it can be diagnosed and get the services needed. We also want to promote research in both clinic and science areas to understand, prevent and treat the condition,” McKenzie said.
In the beginning, “the main focus was to get as much information out to clinicians and professionals as well as parents,” Lancaster said. “There was very little to draw from, very little written for the public on Fragile X.”
Although Fragile X Syndrome is known to genetic researchers, most family doctors and educators are unaware of it, according to the foundation officials. Most of the estimated 200,000 Americans afflicted with it have not been diagnosed, they said.
Males with Fragile X Syndrome have poor eye contact, are hyperactive, are slow to learn to talk as toddlers and have speech and language limitations.
Physical manifestations include a long, narrow face in adulthood, large ears, extremely large testes, double-jointedness and heart murmurs.
“The hardest issue now is not so much dealing with my own children, because they are really super kids, but the knowledge that they, too, can pass it on. . . . That’s harder for me,” Lancaster said.
“I think it’s one of those things you come to terms with but you never get through because things will come up--crisis situations or just big steppingstones in childhood,” Lancaster said. “And that will bring the reality of it back so you grieve all over again.”