In 2001, we welcomed our son Justin into the world. Our loving family was complete with a daughter and now our son. What we didn’t know was that this beautiful child would reveal a secret about our family that we never knew. As Justin grew, his development was delayed. It followed a different path than that of our daughter. It was clear something was wrong. His behavior sometimes resembled autism, but not exactly. Justin always showed an interest in social interaction, but had great difficulty achieving that. Doctors struggled with a diagnosis, suggesting sensory integration dysfunction, but not autism. When Justin was 4 ½ he suffered his first seizure, a grand mal so grand the doctors were certain he would not completely recover. Fortunately, he did and we found a doctor who was finally able to provide a diagnosis: Fragile X Syndrome, a genetic disorder.
Living in New York with access to some of the best medical care, we were frustrated that multiple doctors and health care professionals did not know to test for this genetic condition. It was the fourth pediatric neurologist, the fourth of quite reputable pediatric neurologists, who knew to test for Fragile X Syndrome. A simple blood test was all that was needed.
Once we had the diagnosis, the pieces fell together quickly: Justin’s grandfather had suffered for years from different conditions mirroring Parkinson’s Disease and dementia, but his condition went undiagnosed. His aunts have suffered Premature Ovarian Insufficiency, resulting in infertility, all effects of being carriers of this genetic disorder. Like Justin, their diagnosis was elusive, not to be obtained until Justin’s was obtained. So many signs that this genetic condition existed in our family but few doctors knew of it. In our family there are many carriers, but Justin is the first to suffer with the full mutation of Fragile X Syndrome.
Few people around us could help educate us about Fragile X Syndrome. It was similar but different to autism. We needed experts. This need took us to Boston Children’s Hospital where they were just establishing a Fragile X Clinic and then to University of California, Davis’ MIND Institute in Sacramento, a premier diagnostic and care clinic for Fragile X Syndrome. It was at these clinics where we were finally understood and educated. We would walk away with an invaluable road map for helping our child and a link to a community we identified with. We also learned about the extensive and promising research being done. With the road map, we now had hope for our child’s future, a future that upon diagnosis looked bleak and sad.
It has made a difference in Justin’s life to have access to Fragile X Clinics. We recognize how fortunate we are to be able to get there. Every family living with Fragile X Syndrome should understand their child and should have hope. Every child should have access to appropriate and accurate medical care in an understanding environment. Sadly, not everyone does. Today, the clinics offer medical care and opportunities to participate in research which includes clinical trials showing promise for an effective treatment not available today. Even if families know of the 30+ Fragile X clinics in the United States, not everyone can afford the travel to get there or has insurance to cover the cost of the visit. It is because of this, we, with great support from family and friends, created Fly With Me Fund.
We sincerely appreciate your interest and your support.
Shari & Brian Silver
53 Murdock Road Lynbrook