Clinics helping children diagnosed with fragile X syndrome

Fragile X caused by genetic mutation

When parents are told their child has fragile X syndrome, they may have no idea what it means or what comes next, but there are resources available for families.

When Matthew Kaplan came into the world 13 years ago, his parents knew something wasn't quite right.

"From the moment Matthew was born, he was always off, not meeting his milestones, and those milestones became greater, and greater and greater," Matthew's mother, Michele Kaplan, said.

Matthew was diagnosed with fragile X syndrome, the most common cause of intellectual disabilities, especially in boys.

At a fragile X clinic in Florida, doctors are working to better understand and treat the condition.

Fragile X is caused by a genetic mutation that prevents the body from making a protein vital for brain development. It causes both learning and behavioral disabilities.

"It is a common cause of autism. Sixty to 80 percent of children with fragile X will also have autism," said Dr. Deborah Barbouth, the medical director, and clinical and biochemical geneticist at the clinic.

The care and cutting edge research being done costs money, which is why the Kaplan family started a foundation: Families for fragile X. The foundation spearheads a yearly race to raise money for research and support.

Doctors said great strides have already been made, especially in genetics.

"We are very hopeful that there is going to be a treatment," Barbouth said. "At this moment, there is no cure, but we do have different approaches to help with aggression or attention deficit or other factors."

The Kaplans hope their work will pay off for Matthew and others like him.

"My dream, whether it's through medicine or therapy, is independence and happiness," Michele Kaplan said.

Click here for more information.

Portions of this article are courtesy of WPLG.

About the Authors: