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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).

My dad has always had shaky hands, but FXTAS has seemed to take hold very quickly – 4 years ago he was driving LGV1 lorries, regular holidays in their motorhome and him and my mum looking forward to retirement. Four years later, my dad has had his license taken off him, had to sell his motorhome, golf clubs and other than the occasional trip out, the furthest he goes is to the bathroom and back.

My mum is his carer and has to do literally everything for him. She worries about leaving him, but I know she also worries about me and the strain of caring for my son and his needs.

There are very few people my son is comfortable with and will settle for, so when I get a call from my mum sobbing that dad had fallen down the stairs and she couldn’t get him up, but I have no one to watch the kids - I feel useless and so torn – stuck in the middle of Fragile X! I talk to friends/family about the situation and the hardest part is that there is no solution. My daughter is a shining light and always wants to help but she shouldn’t have to have such big responsibilities at her age.

My dad will continue this downward path as there is no cure for FXTAS, which in turn puts more pressure and strain on my mum and makes me feel guilty as I can’t help more. Being an only child has added pressure as there is no siblings to help when needed.

And as for my son…. who knows what his future holds but I will always be by his side to support and advocate for him as well as trying to educate others about this little known, rarely talked about genetic condition called FRAGILE X SYNDROME!


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