Global mission to talk about condition
IMAGINE you had a lifechanging genetic condition and people just thought you were drunk.
This is the reality for many of the around 10,000 people in the UK who are in the early stages of Ataxia, a degenerative disease of the nervous system that can affect children and adults alike and can leave sufferers in a wheelchair and unable to complete everyday tasks.
The condition is caused by damage to the cerebellum, the part of the brain responsible for co-ordinating movement, and causes symptoms which look a bit like those of someone being drunk – slurred speech, stumbling, falling and incoordination.
Alan Thomas, 54, has been living with Ataxia since he was 28 years old and has experienced all of these symptoms and more. He lives in a small village near Llanboidy, Carmarthenshire, and has spent his adult life travelling the world to raise awareness about Ataxia and other rare conditions.
He said: “The number 17 is quite apt because I’m the only one in the village with a rare disease and one in 17 people in the UK and Europe have a rare medical condition.
“I’ve been accused of being drunk quite often. Years ago, I was stood talking to a friend outside a local public house which I hadn’t even been in and another friend of mine came up and said ‘how long have you been in there for?’. He thought I’d been drinking.
“Another friend said to me ‘how come you’re drunk every time I call you?’. Over time you get immune to it”.
Alan, who uses a wheelchair, said he has experienced balance issues, problems with his speech, and slower movement because of damage to his cerebellum caused by
Ataxia.
“I first knew something was wrong when I was buttering bread to make sandwiches.
“I was having to concentrate where the knife was going around the bread. I just knew it wasn’t right, it didn’t feel right for something that you do every day,” he said.
Eventually, Alan had to give up his job as an electrician but it took another eight years for him to finally be diagnosed with Ataxia.
“I kept going back to my GP but the symptoms were only slight then and it was hard to convey the message that I just knew something was wrong. Luckily, one day I went to the doctor and my usual GP wasn’t there so I saw a locum.
“He had an inkling of what was going on so he sent me for a lot of tests – a lumbar puncture, brain scans and blood tests – and I was told I was positive for Ataxia.”
Alan said that following his diagnosis he was told “that’s it, there’s nothing we can do so just get on with it”, which is what he did.
For the past two decades, he has been travelling around the world to speak about Ataxia and other rare conditions.
A couple of years ago he set up the charity, Ataxia and me, which he runs from the home he shares with Dawn, his partner of 25 years.
“I’ve travelled all across the UK and globally. At one point someone was using #alaneverywhere because he kept seeing me all over the place.
“I’ve been to California quite a few times and been all over the United States as well as Kenya and all over Europe to talk at conferences about Ataxia and other rare conditions to raise awareness.
“Outside I use a manual wheelchair, I’m only able to walk a few steps so that adds quite a few extra issues.
“When booking travel you’ve got to investigate exactly where you’re going or book extra priority assistance in airports or on trains.
“I travel alone, but over the years I’ve got used to it.”
Alan has been shielding since March because of the coronavirus pandemic and has only left the house to attend medical appointments.
He said he “misses” the conference circuit but he keeps in touch with other people with Ataxia over Zoom.
“It’s a big change from travelling everywhere and I’m getting a bit of ‘ Zoom fatigue’ now.
“My bank balance is doing well though, not having to pay for all those tickets to go to conferences.
“I do miss the atmosphere though. At these events you quite often meet new people and you make new networks.
“The rare disease community can be a big extended family, you meet the same people and you understand each other,” he added.
Complications from Ataxia can be serious and are often debilitating, even leading to early mortality in extreme cases.
Alan said he has slowly had to give up activities like driving and mowing the lawn as his disease progresses but he still takes to the lanes of Carmarthenshire on his recumbent tricycle.
“It can he a bit hairy at times down the country lanes. In the summer, you get a lot of tractors and you’re quite low down, but it’s great exercise for me and a bit of physiotherapy.
“I sometimes do up to 12 miles in an afternoon and it can be hard going on the undulating hills around here,” Alan said.
He is determined to continue to spread the word about Ataxia, which he said is hard to diagnose because its symptoms are similar to many of the 6-8,000 rare conditions people can have.