22 4 / 2012
How Our Fragile X Story Began
The best place to start our story is with two words. Developmental Delay. These two words put my family down a road we were not planning to be on. Our only child was not hitting important milestones so we sought answers to help us find out what was keeping him from progressing. Fortunately, we were blessed to have our son in a child development center that acted quickly to share their concerns so we could search for a medical reason for Sam’s delays. The answer we finally got after 6 months of actively searching was Fragile X Syndrome, something I had never heard of or knew was part of our genetic make-up. It had been traveling for several generations in the family as carriers without our knowledge because carriers don’t have any symptoms to warrant a genetic test. Approximately 1 in 130 women are carriers of Fragile X and female carriers have a 50% chance of having a child with Fragile X.
Unfortunately, families will carry this pre-mutated Fragile X gene for generations before it is realized, as in our case. Fragile X is also the only known genetic cause of Autism. Not all FX affected individuals have Autism but children with Autism should always be tested for Fragile X.
Developmental delay is usually the first sign that most parents see if their child has Fragile X Syndrome, and we were no exception. Sam needed more support than most his age to sit up, and he crawled a few months later than most. Although he tried to walk at one, he didn’t take his first steps on his own until 15 months. As mentioned earlier, Sam’s delays were mild when he was an infant but got more prominent when he became a toddler. For example, he had little expressive language and wasn’t imitating others regularly until he was 2. When child development professionals evaluated him, we got the formal confirmation he was delayed in gross and fine motor skills, cognition and speech. This led us to genetic testing for answers to the delays and before long, we had the diagnosis of Fragile X syndrome.
A roller coaster of feelings set in from confusion, panic, grief and guilt. After we accepted this new world, we started attending many Fragile X resource groups, clinics, research institutions and conferences across the US to access professionals who understand and study Fragile X.
We are encouraged by the breakthroughs science is uncovering about Fragile X, which in part is possible because of federal investments by the National Institutes of Health and Centers for Disease and Control. Donations to the National Fragile X Foundation are also helping to educate more people about Fragile X and provide resources to families living with Fragile X. Please donate today at fragilex.org and take the time to learn about Fragile X.
