Alan Thomas talks about his experiences with this rare disease
Can you describe the events that led to your Ataxia diagnosis?
From an early age, I have always walked with a bit of a wobble and sounded a bit slurred when I speak. Many people just thought “Oh, that’s just Alan!”
I achieved good qualifications at school and went on to run my own electrical contracting business. But the condition progressed very slowly and a lack of co-ordination definitely does not mix with electrical circuitry!
I managed to carry on for a while, but one day while making sandwiches for work I found that even buttering the bread seemed to be taking more and more concentration – I had to actively think about navigating the knife around the bread.
It was a simple task that I took for granted, so it was then that I started looking into what was happening, which I thought may have been a simple answer! But how wrong was I?
To get a definite diagnosis it took me about eight years, I went to my GP who initially just told me I was tired, but then I went through so many different diagnoses, each time thinking the outcome didn’t sit quite right with me. They tried multiple sclerosis, Huntington’s, Parkinson’s, all those with similar symptoms. This went on for four or five years, but then one day my GP was off sick when I went in for an appointment, so I saw a locum who had more of an inkling about Ataxia. He sent me for blood tests and brain scans, which all came back positive, so I was sent on to a consultant who confirmed it was Ataxia. I was then passed on to another consultant who basically said it was definitely cerebellar Ataxia, and wondered why nobody else had picked up on it.
The degeneration on my cerebellum is very small and slow, you’re actually unable to see it on my scans, so I can understand why it was so hard to pick up on.
Are you on any medication? if so, what was it and what was the outcome?
Alas, there is currently no cure for Ataxia. Also, there is no specific treatment for this condition of the cerebellum.
What have you been told about your prognosis, in terms of the future?
I have been told that the condition is degenerative – which means that it gets worse over time – although with each patient the progressiveness will vary in terms of severity and the length of time things will happen.
They’re not sure at what rate it will continue to degenerate, as apparently I don’t fit the usual box of what they’re used to seeing. Mine is a lot slower than the usual rate, which is quite odd. There’s around 150 different gene mutations for Ataxia, which is a number that’s increasing all the time.
What does a typical day in the life of having Ataxia involve?
Ataxia is a Greek word meaning ‘lack of order’, so people with Ataxia experience problems with balance, speech and co-ordination.
I still do everything I could do before, within reason, but I have to do it in my own time. It might look a bit awkward, but I can still do it. In terms of things I don’t do, a lot of things I don’t try to do any more because it would take too long so I figure it’s not worth worrying about.
What would you say is the greatest challenge of the disorder?
Having a condition that I know is slowly and irreversibly getting worse is a challenge. Also having problems with co-ordination can often be very frustrating.
Have you ever experienced any social stigma because of it?
Because of the symptoms I have, slurred speech and the way I walk, being called drunk is a common experience. Although on a weekend evening it might be harder to distinguish between genuine and self-inflicted for those attributes!
You’re a patient advocate and founder of Ataxia and Me - how did that all come about?
At Ataxia and Me we’re very firmly focused on the patient, as indeed the patient is the expert in his or her own condition.
Because we’re willing to share the information from patients as well as associate with the networks within the pharma industry, it’s all gone down really well. I’m proud of the fact that people feel like they can come and speak to me, because they feel like their message will be heard by the pharma industry, which I think is definitely the way to go.
The charity is based in West Wales with a global following and I’ve been doing this sort of work for around 22 years now, but focused more on the Ataxia side of things around ten years ago. Last year we actually got official charity status! We’re passionate to share the patient experience and have also established a dedicated micro website (within ataxiaandme.org) focusing on Ataxia awareness.
What barriers need to be overcome to create a cohesive working relationship between patients and pharma?
The basic and fundamental barrier is to talk with the patient, as opposed to talking to or at the patient. I see this as a small change that makes a really big difference.
Have you ever taken part in a clinical trial?
Although I have not taken part in a clinical trial personally, I have been to many meetings about the design process of clinical trials.
There is a mindset that clinical trials are invasive or medical, this is not the case – people need to know that taking part in a clinical trial can be as simple as filling in a survey!
Are you happy with the NHS care you have received?
I think that’s a loaded question. Having a rare condition means the care within the NHS can be very variable. Communication between departments, even health boards in different regions can be problematic.
What are your hobbies?
A hobby!? What is that? I wish there was time!
What is your greatest hope for the future?
For all patients with health conditions to be respected.
What advice would you give to other people currently being diagnosed with Ataxia?
You are not alone, don’t be isolated or isolate yourself. Reach out and seek others with the same condition, it will make a really positive impact on your well-being.
Do you think the depth and quality of information available on Ataxia available to the public is adequate?
I think it completely depends, as the information available for Ataxia or any rare disease is subject to many parameters. There’s lots of things to take into account, such as what level of literacy the patient has, how much information the patient requires and what specific information the patient requires among other things. At what point of the Ataxia ‘adventure’ does the information get disseminated?