Dad's FXTAS journey

Sarah has shared this story about her father's FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome) journey. She has offered to share her experiences of FXTAS with others: please contact the Fragile X Society for further information.

Dad was an engineer who came from Mansfield, did his National Service, married mum and came to live in Peterborough to work at Perkins Engines. He worked there all his life in a job which took him around the world teaching and resolving disputes. He was a cheerful, level-headed, kind dad who always had a joke or funny story to tell.

Dad was diagnosed with FXTAS a few years after our son was born. We had put off getting the Fragile X blood test for our son but once the devastating result came back positive it explained why dad had the intention tremor he had been living with for so long.

The FXTAS diagnosis explained a lot. The gene had come through his mothers’ side of the family and his three brothers were tested for the Fragile X gene. Two of which were carriers and it enabled one of their daughters to have Preimplantation Genetic Diagnosis (PGD) in order to have a son without the Fragile X gene.

Dad would have been in his mid-fifties when the tremor started in his arm, and it was a minor inconvenience. His arm shook a bit when he raised a glass to his mouth. Once he had managed to lift the glass off the table supported by both hands, he then raised it to a spot where it ceased to wobble, and he could put it to his mouth. This went on with no real worsening for many years and we all got used to it. Dad was able to have a great retirement, holidaying with mum and enjoying his life at home.

In his 70’s he was on holiday in Switzerland and was on a group tour when he started to list over to one side whilst walking. He wasn’t aware that he was listing and so the tour leader had to prop him up and he spent the next day resting in his room. He completed the holiday but since then we noticed that if he got tired, he would start to lean over to one side and would need help to prop himself back up again. This was when he started to use a walking stick when he was outdoors. His legs would let him down and he would have to grab onto things to right himself.

At home we replaced the over-bath shower with a level access wet-room. Dad could sit on a shower chair and shower himself with the shower controls at chair height and with grab rails placed to allow him to stand and feel steady. This was a great investment as he never needed help to shower.