“He crawls into your heart. And he has a way of just touching you. Because he is so sensitive, and he has a good sense of humor. And those are on good days.” It’s the good days for her 13 year-old son, Justin, that Shari Silver is hoping for.
Justin suffers from Fragile X Syndrome, a neurodevelopmental condition that causes symptoms ranging from learning disabilities to severe intellectual disabilities, seizures, speech delay and anxiety. It is the most common known cause of inherited cognitive impairment and the leading known genetic cause of autism.
Justin was 5 when he was diagnosed with the condition, and at that time, Shari and her husband, Brian, had never heard of Fragile X Syndrome. “I reached out to my closest 10,000 friends,” Brian said. “I said, ‘Hey, we just found out our son has Fragile X. What do we do?’ And we heard nothing. I finally got one response.” Brian was given one piece of advice: See Dr. Randi Hagerman at the MIND Institute.
Dr. Hagerman, the medical director of the UC Davis Mind Institute and director of the Fragile X Research and Treatment Center, has been the leading authority on Fragile X syndrome for 30 years. “When you have Fragile X syndrome, and you have what’s called a full mutation in the Fragile X gene, the gene kind of shuts down and doesn’t produce this Fragile X protein. Now, this protein is very important for brain development, not only in childhood, but it’s important for brain development throughout life. … It’s the window for understanding autism.”
The disorder affects approximately 100,000 people, mostly males. Females who have the Fragile X gene are mainly carriers, affecting approximately 1 in 151 women. Carriers typically do not show symptoms, and it is not unusual for the condition to go unnoticed unless carriers request a specific blood test to look for it.
Shari Silver did not know she was a carrier until after Justin was born. “When you find out that you’re the reason that your child… that you’re the cause of a developmental disability it’s… I went into a depression.”
There is no cure yet for Fragile X Syndrome, but there are standard treatments to help with anxiety, hyperactivity and attention problems. Dr. Hagerman says targeted treatments in development can reverse some of the abnormalities of the brain. “We know so much about how important FMRP [is], the protein that is missing in Fragile X, how it deregulates the rest of the brain.”
Justin’s father Brian, an executive at Yahoo, is on the board of directors of the National Fragile X Foundation. The foundation provides outreach to families and supports research, public policy and spreading awareness about Fragile X. “While we’re part of the National Fragile X Foundation, and helping to grow that as much as we possibly can, it’s really about raising money. It’s really about research. It’s the only hope that you can have for the best life for your child, period.”