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.
We also added a half-step on at the back door as the doorstep was high and put a rail by the door so he could get into the garden. Another grab rail was put by the front door. The co-ordination of his legs and his difficulty with righting himself meant that for a good while he used a wheeled rollator to move around outdoors. It had a seat that he could sit on and it meant that him and mum could enjoy walking around the village. If he felt tired, he could rest a while and then carry on. We bought a stairlift too and this was another great investment as he could remain sleeping in the bedroom that he had shared with mum all his adult life.
Dad was still driving his car, making the most of his disabled parking badge, until a mini-stroke and a bout of pneumonia made him consider the safety of this and it was with great reluctance and much deliberation that he sold the car and bought a mobility scooter.
Mum needed some help during this time as she was reluctant to leave the house until dad was up, dressed and downstairs ready for the day which meant that sometimes she missed going out with her friends and was becoming more isolated. She had been diagnosed with dementia and was starting to forget things. To help with this we employed a Care Agency who would visit in the morning to make sure dad didn’t fall over and help with fiddly things like putting socks on. They also came in the evening to help with making dinner as dad had been a good cook but now his shake was preventing him from being safe in the kitchen.
We always knew when he was trying to cook something as there would be lots of clattering going on!
The Carers became good friends and thank-goodness they were able to visit during Covid.
At some point in this journey, it had been evident that I needed to organise Lasting Power of Attorney (LPA) for both parents and this was another good investment. Dad was starting to not be able to understand the bills that were coming in or any post of an official nature. The LPA’s enabled us to manage the finances for them once we had lodged them will all the institutions that needed sight of them. They did LPA’s for both Finances and Health and I am so glad they did both as the Health LPA gives space to talk about whether someone wants to be revived. Whilst at the solicitors it also gave mum and dad a chance to update their Wills which they had written decades earlier. After doing all the legal stuff it felt like a relief for all of us.
During his 80’s dad progressively felt more tired and spent more time in front of the TV. He was also not managing to remember to take his medication from the blister packs and needed it supervising so we had to buy a locked medication box and liaise with the GP to ensure all his meds fitted in with the time of the Carers visits. Their visits and visits from hairdresser, podiatrist, cleaner, friends and family gave rhythm to his day and he also had a befriender from Age UK so mum could continue to go out if she wanted to. He managed to have a party in the garden to celebrate his golden wedding with neighbours, when Covid allowed gatherings of 6 outside. We had a had a rolling list of people coming and going! Right up until his last day he never lost his sense of humour. Last year, aged 83 he died in hospital. He had another stroke from which he did not recover. FXTAS was mentioned on his death certificate but really it was the stroke and a brain infection. The Health LPA wishes were able to be applied without me having to feel that I was solely responsible for his end of life pathway and I am very grateful for him having made that request.
FXTAS is a progressive disease, and indeed dad lived with it for about 30 years. We were able to respond to each stage so that dad could live his best life and we were also able to help in advising wider family. Sometimes it could be difficult introducing the next step but always it paid off. He lived with it for about 30 years. One of his brothers in his late 70’s who is a carrier is now showing some signs of tremor and feels unsteady on his feet, but we feel like we have a fair enough understanding of what FXTAS is. At his funeral we raised a good amount for The Fragile X Society and dad would have liked that.
I hope this article is useful for anyone wanting to know more about FXTAS. I’m sure everyone will experience it differently but if you would like to chat about FXTAS with me then The Fragile X Society have my number and I am happy to be contacted.