Fragile X and FXTAS: my family's story

Emma has shared with us her family's story of Fragile X and FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome)

Emma tells us, "I had never heard of Fragile X Syndrome until 2015 and now it has become my whole world. This genetic condition has affected our family in so many ways. Some for the better but a lot for the worse.

Let’s go back to 2015. I was a very proud mummy to a cheeky 3-year-old and a beautiful 4-month-old.

My son was non-verbal and delayed in almost all his ‘milestones’ but still PERFECT to me. He had the most amazing smile and such a contagious laugh. He was such a happy little boy and so affectionate.

We attended a special needs playgroup and the first person we spoke to asked us if he had Fragile X Syndrome – that was the first time we heard those words that would become imprinted on our family.

We got the diagnosis a few months later (over the phone) and thanks to ‘Dr Google,’ I jumped from living in that moment to seeing the future I had envisaged disappear.

Fast forward a few months and we had been tested. My mind became overwhelmed with questions and finding out about CGG repeats and genetics. I cannot begin to explain the guilt I felt (and still do) that I was the carrier, and it was because of me, my son would face challenges and issues for the rest of his life. Being a carrier has its own issues and challenges. In some ways it helped explain some of the obstacles I faced such as the anxiety and always wanting to people please, but it also introduced us to the world of Fragile X associated disorders such as FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome).