You Just Found Out Your Kid Has Fragile X Syndrome. What Next?

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“People always say, ‘Children with special needs are born to special parents.’ And we say, ‘No. Children with special needs create special parents.’”
Shari and Brian Silver’s son, Justin, is 13. Just after his fifth birthday, a battery of tests confirmed that he had Fragile X Syndrome.
Fragile X Syndrome is a genetic disorder that results in intellectual disabilities, and is the leading cause to date of autism, says Dr. Randi Hagerman, medical director at UC Davis Mind Institute and co-founder of the National Fragile X Foundation.
“When you have Fragile X syndrome, and you have what’s called a full mutation in the Fragile X gene,” Dr. Hagerman says, “the gene kind of shuts down and doesn’t produce this Fragile X protein. Now, this protein is very important for brain development.”
While females with the Fragile X gene are the main carriers, the disorder affects more males. Approximately 100,000 people are affected.
Shari Silver was devastated when she found out she was a carrier after her son was born. She spiraled into a depression, feeling that she was the cause of his developmental disability.
While there is no cure yet for Fragile X, there are standard treatments to help with residual behavioral problems. Dr. Hagerman reports that there are specialized treatments currently in development to counteract some of the brain’s abnormalities due to the missing protein.
In the meantime, the National Fragile X Foundation, of which Brian Silver is on the board of directors, supports research into the syndrome and outreach to families affected by it.
“It’s really about research,” Brian Silver says. “It’s the only hope that you can have for the best life for your child, period.”
As for Justin, his sense of humor and sensitivity makes the good days very good for the Silvers. And it’s those good days that they hope to nurture. “He will be able to live independently with support,” Shari Silver says. “Everyone has a talent, and Justin has a talent, and we will find out what that is, and we will help him bring out his talent in whatever he does for the rest of his life.”
Read more about the Fragile X autism connection and watch the interview on Katie Couric World 3.0 over on Yahoo, and take a look at our top recommended resources to support people with autism spectrum disorders.
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