Fragile X/Autism Help

Ivanhoe Newswire —

Autism is a neurological disorder that affects about one in every 500 people. Another disorder, Fragile X syndrome, also called Martin-Bell syndrome, is less common, but has similar traits and can be just as difficult to live with. It affects females less severely, but for most males, social anxiety, behavior, learning and development are all impaired. Now one medication offers hope to these patients.

Eighteen-year-old Ian Copeland and his mom Marilyn have made the best of the cards they’ve been dealt in more ways than one. Marilyn says “He was having temper tantrums all the time, and I thought…” “I was like, I was like very frustrated. I was very angry about something,” Ian tells Ivanhoe.
Ian has Fragile X Syndrome, a disorder similar to autism. Behavior problems and intellectual impairment are common. No drugs help the learning problems that come with Fragile X or autism, but Elizabeth Berry-Kravis, M.D., Ph.D., hopes the drug CX516 will change that. It increases activity of specific proteins within brain cells, and it only works when patients are trying to learn.

“If they try to learn something, it will help them establish a network of neuroconnections to do that thing, so that they can learn better,” says Dr. Kravis, a pediatric neurologist at Rush University Medical Center in Chicago.
Study results aren’t final, but Dr. Kravis saw thinking, function, and life skills improve. She says, “We had one patient who started talking on the telephone, and he had never been able to do that before.”
Though Ian doesn’t know yet if he got the real drug, he believes he did. “It helps me,” he says. “It helps me on how to stay focused on my work.” He and his mom say they would welcome the drug, but they’re happy as they are.

The drug is under study to help people with Fragile X syndrome and autism. The study is currently enrolling at Rush University in Chicago and also at the University of California, Davis. Participants must be 18 or older to enroll.
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If you would like more information, please contact: Rush University Physician Referral Service (888) 352-7874 FRAXA Research Foundation

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