Back to articles Life with Fragile X

Categories: Parenting

It seems like just yesterday that our eldest son, now 7, was diagnosed with 'Fragile X Syndrome'. In reality it has been 5 1/2 years since his diagnoses and 3 years for our younger son's identical diagnoses. Fragile X Syndrome is the most common inherited genetic form of mental impairment and the leading known cause of Autism.
Our two boys do not have Autism, but many children with Fragile X often have a dual diagnose. Fragile X Syndrome has many of the same characteristics as Autism, poor eye contact, anxiety and self injurious behavior. Though both my boys have the identical diagnoses, they couldn’t be more different. Will is charming, mischievous, clever and a bundle of energy. He is very happy, adventurous and lights up the room with his smile. Jack on the other hand is more serious, quiet, shy, content, and cuddly with underlying anxiety throughout most of his day. The two enjoy each other’s company most of the time and of course Will is the cat’s meow in Jack’s eyes!


Living, dealing, grieving through the diagnoses was a long process. It took my husband and me a couple of years to really feel like we were back in control of our lives and our family. We dealt with the diagnoses so differently as well, as I’m sure many men and women do. My husband immersed himself in the Fragile X world, learning everything, researching websites and facilities. I, on the other hand, delved slowly into it. After all, my children were perfect in my eyes. It didn’t seem to make sense to me to read and stress about all the things that “could or would” happen down the road. I really just wanted to enjoy my toddlers and take each day as it came. I remember summer holidays last year. All the kids from Will’s daycare class were across the road playing organized soccer. It really hit me, “Oh my gosh, this is the year Will would have played right along with them”, of course there were tears that accompanied that. My husband’s reaction was totally different. He said “Honey, this shouldn’t come as a surprise.” A true indication of how differently we were dealing with the diagnosis. What we do have in common is a belief that there is a potential treatment or cure for Fragile X.


As we emerged from the diagnosis of Fragile X, we met some wonderful people and came into contact with The Fragile X Research Foundation of Canada ( The FXRFC has funded some incredible and very promising research over the last 15 years. Almost 100% of funds donated go directly towards research in Canada. As I write this, the FXRFC is conducting a very exciting clinical trial for a potential treatment for Fragile X Syndrome. There is still a lot of work to be done, but we’re determined to give our boys a better chance at an independent future and a more fulfilling life.

Written by Jennifer Williams, loving mother of two fabulous boys, and Fundraising Co-ordinator (along with her husband Ian Shearer) for FXRFC