Often undiagnosed and unrecognized in a family’s genetic tree, experts deem Fragile X Syndrome as the most common inherited cause for intellectual challenges, including some cases of autism. Robert Miller, executive director of the National Fragile X Foundation, says an estimated 1 million Americans have, or are at risk for developing, a Fragile X-associated disorder. Often the disease is first diagnosed as autism because children can exhibit autism-spectrum disorder symptoms as part of the disease. To North Texas mom Jayme Haney, a carrier of the Fragile X gene mutation, this fact hits close to home. Her sons Justin, 13, and Dylon, 5, were both diagnosed with Fragile X Syndrome, but not before a harrowing, bumpy ride in pursuit of the truth.
Finding the diagnosis can take years because babies with Fragile X Syndrome display no early symptoms. The only early clues parents might notice are delays in typical development at 6 months. To make matters worse, Texas lags behind many states in terms of the number of available clinics specializing in Fragile X care. However, Dallas’ UT Southwestern University Hospital is home to revolutionary Fragile X research that could lead to possible discoveries for treatment of autism, and even Alzheimer’s and Parkinson’s diseases. This research, coupled with efforts to develop more clinics in Texas, says Miller, could lead to heightened awareness of the disease, as well as better care for children and adults living with Fragile X Syndrome. More importantly, it could mean a cure.
Genetics and Diagnosis
The latest research shows that people like Haney, carriers of Fragile X, are strikingly common amidst the general population.
Dr. Randi Hagerman, director of California-Davis’ M.I.N.D. (Medical Investigation of Neurodevelopmental Disorders) Institute, a pediatrician and one of the nation’s top Fragile X researchers, says the incidence of carriers may be as high as one in 130 females and one in 250 males. And he says those numbers have grown since the gene that causes Fragile X was discovered in 1991. To date, no one knows what causes the gene’s mutation.
The effects of carrying a Fragile X gene span generations — most of the time going unnoticed, as in Haney’s case. Haney became aware of her family’s genetic history after Justin and Dylon were born and she started looking for answers behind their developmental delays. She turned to her father, 66, who was experiencing tremors and muscle coordination problems. Testing revealed that her dad carried Fragile X, which explains how Haney passed the gene to two of her three sons. Haney’s middle son, Devin, 9, does not have the syndrome.
Not all children who exhibit learning, behavioral or developmental challenges are tested for Fragile X, particularly in Texas. In Texas, as in most states, Fragile X is almost always diagnosed around age 3, says Miller, after parents begin recognizing delays in their children’s development. For children with Fragile X, it’s typically between ages 3 and 5 that behaviors like hand flapping, repetitive speech, anxiety and hyperactivity appear. The telltale physical characteristics of the disease — big ears and a long face — don’t develop until as late as puberty.
Dr. Mary Kukolich, a North Texas pediatric geneticist, says parents and pediatricians need to be alert: “Any boy who has speech delays and autistic-like behavior should be tested for Fragile X.” Boys experience more profound symptoms of the syndrome because girls carry an extra X chromosome, which helps make up for any genetic deficiencies.
Research Developments
Science experiments in the form of sophisticated, cutting-edge research at UT Southwestern Medical Center could wind up helping Haney in other ways, along with potentially millions of others. Kimberly Huber, Ph.D., associate professor of neuroscience at UT Southwestern Medical Center, is studying genetically altered mice to try to learn more about the brain chemistry involved in Fragile X.
Researchers, including Huber, believe that some of the same brain pathways responsible for Fragile X Syndrome may be similar to those that cause Alzheimer’s and Parkinson’s diseases. Thus, research in the genetically based realm of Fragile X could potentially provide important insights into other devastating conditions. “I think Fragile X is leading the way to find a cure — treatment — in the autism field,” says Hagerman.
Coping With X
In the meantime, families deal with reality — and it’s not all frustration and anger. Fragile X kids often have a great sense of humor, and they are able to develop emotional connections, says Haney.
Haney says she’s always concerned about her boys. But, she adds, “I am learning to live in the day versus worrying about the future, because these boys surprise me every single day, and I can only think and hope that it gets better and easier.”
