Fragile X — a rare chromosomal mutation — is difficult to recognize, but those advocating for its treatment say they hope the University of Iowa Hospitals and Clinics will bring better local recognition to the disorder.
The condition occurs when a mutation on a person’s X-chromosome leads to a lack of important proteins in the brain. This deficiency often leads to anxiety problems, sleeping troubles, and impeded sensory development. Males, who only have one X chromosome, tend to suffer more severe effects.
Carolyn Tomberlin, whose sons were both diagnosed with Fragile X in 2005, said the condition is rarely recognized in smaller communities and is thus often misdiagnosed. At the time, Tomberlin’s sons were 16 and 12.
According to the Center for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 6,000 to 8,000 females are diagnosed with Fragile X nationwide.
“There are a ton of kids out there who aren’t aware [they have Fragile X] yet,” Tomberline said. “Even with those who are, they are usually ‘cubby-holed’ in with those who are autistic.”
Though both conditions appear similar, she said, the underlying causes differ in each. An autistic children may avoid eye contact in social settings because they do not recognize other people are more significant than other objects, whereas children with Fragile X avoid eye contact because they feel uncomfortable under someone’s gaze.
Children with Fragile X often suffer when schools cannot differentiate between the conditions, she said.
“The behavior may look exactly the same, but for completely different reasons. You would treat it differently,” she said. “If my son is calm and not anxious, it is amazing what he can say and accomplish. Those who work with him need to be able to know that.”
The National Fragile X Foundation developed the Fragile X Clinical and Research Consortium in 2006, then added a database and registry for those with the mutation in 2008. The UI opened its own Fragile X clinic in 2010, the first in the state.
Tomberlin said Fragile X clinics provide customized learning programs for those diagnosed with the condition.
“Why have a Fragile X Clinic?” said UI Clinical Associate Professor Dianne McBrien at the clinic’s first open house on April 14. “Because of the needs of the kids. Fragile X is a very low-incident condition.”
McBrien said since the clinic has had almost 40 patients since it opened in 2010.
The clinic offers services including medical attention, an occupational therapist, a behavioral psychologist, and speech and language pathologists. Jennifer Luria, the clinic’s coordinator, said she often helps families find resources for children with Fragile X in the school system.
“I love being the clinic coordinator,” she said. “Whether it’s seeing someone ride a bike or someone learning how to spell, it’s a highlight for me.”
After the clinic opened, Tomberlin began working to establish the LINKS Support Network — a group for people with Fragile X and their families — to Iowa.
“The opportunity for us here is to really share our stories and be there for each other emotionally,” she said.
McBrien said the pace of national Fragile X research has quickened, though she hopes that recognition will spread sooner to local communities.
“The pace of [national Fragile X] research is very rapid, especially in the last 10 to 15 years,” she said. “As far as opportunities for people with Fragile X, I think that’s an ongoing challenge for Iowa. Things are better than they were, and hopefully they will continue to improve.”