Fragile X is often not recognized By Molly Villamana and Alissa Calabrese :::::::::::::::::::::::::::::::::photos courtesy of Avis Primack Adam Goldsmith of Grayslake, pictured at age 6, was diagnosed with fragile X at 17 months old.
Jean Zucker's son, Harry, is talking. That may not be big news for an average 4-year-old, but it is big news for Harry.
Harry didn't start talking until he was 3½ years old. Through intensive speech therapy beginning when he was 28 months old, Harry is now able to string together two- to three-word sentences, his mother says. Jean says the improvement is a combination of speech therapy and "dumb luck."
Harry has fragile X, a form of mental impairment inherited from his mother. Like most women who pass fragile X to their children, Zucker had no idea she was a carrier. The Evanston mother showed no symptoms.
Jody Goldsmith of the northern suburbs didn't know she carried the disease until her son Adam was diagnosed with fragile X at 17 months. And Julie Peters of Rolling Meadows learned in January she had passed the disease to her son, Colin, who for the first four years of his life went undiagnosed.
These mothers are not alone. Nearly one in 259 women carry the disease, many without ever knowing it, according to FRAXA, a national research foundation dedicated to finding a cure for fragile X. It can pass from generation to generation on the X chromosome-experts refer to this as a premutation-until it grows into a full mutation, causing fragile X.
More boys are affected Fragile X affects one in 3,600 boys and one in 4,000 to 6,000 girls, making it the most common form of inherited mental retardation, according to the federal Centers for Disease Control and Prevention.
The gene in the affected X chromosome lengthens and doesn't make a protein known as FMRP, which triggers fragile X, according to Dr. Mike Tranfaglia, medical director of FRAXA and father of two children with the disease. "[The protein] is really important for learning and memory and how the brain changes its shape in response to activity."
"On average, girls are not as affected as boys," because women have two X chromosomes compared with men, who have one X and one Y chromosome, says Leonard Abbeduto, a professor and associate director for behavioral sciences at the Waisman Center of the University of Wisconsin-Madison. That means women's unaffected X chromosome can take over, essentially hiding the affected X, but men, with only one X chromosome, cannot do that, so they tend to show more symptoms than women, he says.
Because the gene that causes fragile X is carried on the X chromosome, women have a 50-50 chance of passing their affected X to their children. Men who carry the disease always pass the premutation to daughters, but never to their sons, who only inherit their father's Y chromosome.
Symptoms include physical features such as a long face and large ears and emotional and mental impairments that can include autism, attention deficit disorder and hyperactivity.
Many of these symptoms are allayed with prescription stimulants such as Ritalin, says Tranfaglia. Therapy-including physical, occupational and speech-also helps children with their disabilities. Still, despite the myriad of symptoms, people affected with fragile X have a normal life span.
This is not autism "At least half the kids with fragile X have autistic behaviors," Tranfaglia says, characterized by lack of language skills and obsessive compulsive disorder. But fragile X is different from autism and can be diagnosed with a DNA test.
There is no test for autism, but "fragile X is a molecular diagnosis," Tranfaglia says. Because of the similarities in symptoms between the two diseases, many children are misdiagnosed as autistic, when they really have fragile X syndrome, which causes the autism, he says.
Fragile X, like autism, does not have any specific treatments, but researchers are optimistic. "I think we're headed down that path [of finding a treatment]," says Dr. Elizabeth Berry-Kravis, associate professor of pediatrics, neurology and biochemistry at Rush University Medical Center. She runs a fragile X clinic at Rush.
Colin Peters was misdiagnosed with autism in January 2002, says his mom, Julie. "We knew in our hearts that it wasn't autism," she says.
Peters learned about fragile X last November after her husband's boss read an article in Men's Health and recognized some of Colin's symptoms.
"Nobody even mentioned [fragile X syndrome], not even a breath of it," Peters says. Pediatricians, psychologists, a series of specialists and a neurologist all missed the diagnosis.
Even after Peters asked Colin's pediatrician about fragile X, he remained skeptical.
"He didn't encourage a blood test," because he said it didn't look like fragile X, she says.
"It's amazing that this many people missed it, or didn't even think" about fragile X, she says. Peters attributes the misdiagnosis to Colin's lack of the physical features normally associated with fragile X. Colin didn't reach the childhood benchmarks of rolling over, sitting up, walking and imitating actions, she says, achieving them much later than a typical child.
"We weren't very experienced parents so we didn't know much," she says. Colin tends to "flap" his arms when he gets excited and has difficulty making and maintaining eye contact, she says, two common characteristics of fragile X kids.
Although the Peters are still learning about fragile X and what it means for Colin, they say they are relieved to have a diagnosis. "All along, when your kid is a little bit behind, you think if we're really aggressive with therapy, he'll catch up," she says. Having a diagnosis now allows them to focus their efforts on making Colin all he can be.
"We're not going to waste energy trying to make him be like other children. I see he is the child he is," Peters says.
Learning to deal Like all children, those with fragile X syndrome have varying levels of potential and setbacks.
"Some kids might just be really, really hyperactive and they're not the least bit anxious," Tranfaglia says, while others may be very anxious and not as hyperactive.
Many of the childhood symptoms associated with fragile X evolve as the child ages, Tranfaglia says. Children "tend to get a lot more anxious [and] obsessive compulsive in the early school years, and aggression is usually the biggest problem in adolescence."
Tranfaglia's daughter, Laura, has one affected X chromosome, but doesn't show any symptoms because her unaffected X chromosome is making the FMRP protein.
"She has the full mutation for fragile X," says Laura's mother, Katie Clapp. Instead of being affected by it, Laura is a carrier. Her brother, Andy, with only one X chromosome, is severely affected with the disease.
Through the FRAXA organization, with Clapp as president, Tranfaglia as medical director and both as co-founders, the couple is leading the charge to find a cure for fragile X.
In Chicago, parents can get help from the Fragile X Resource Group of Greater Chicago, based in Buffalo Grove. The group was founded by Avis Primack of Buffalo Grove and her daughter, Jody, after Primack's grandson was born with fragile X. Adam, now 9, is "highly compromised" with fragile X, Primack says. He lives with his parents in Grayslake, still can't talk, sometimes rides in a large stroller when going far distances and can become overwhelmed in crowds.
But he is learning to cope with his anxiety, Primack says. She says when he is overwhelmed, Adam will isolate himself and sit quietly to calm himself down.
Fragile X Resource Group of Greater Chicago provides emotional support to families and hosts parties, fundraisers and seminars. The group will hold a seminar in Deerfield for parents, physicians, teachers and therapists in October.
Primack feels she has helped give families hope through her work with the support group. "I'm very proud of it," she says. "It's the one way I feel I can make a difference."
Resources • Fragile X Resource Group of Greater Chicago www.fragilex.org
• FRAXA www.fraxa.org
• Rush University Medical Center fragile X clinic (312) 942-4036 www.rush.edu/rumc/page-R12247.html
Molly Villamana is a graduate student a Northwestern University's Medill School of Journalism and part of the Medill News Service. Alissa Calabrese is an undergrad at Northwestern University's Medill School of Journalism and a Chicago Parent intern.