David Bissett has episodic ataxia type 2 and like many people, had a difficult journey receiving a diagnosis. Here, he shares his story.
Over some decades, I have struggled on and off with my mobility. As a teenager, I would occasionally suffer with something my family called the ’24-hour flu’. This happened once or twice a year, but strangely, nobody else in the family caught this ‘flu’. I also have recollections of falling over as a child, for no apparent reason, but I would simply get back up and continue my day.
I was working in photography by the time I hit my 20s. There were a number of times when I would just ‘fall off my feet’ and have to be collected by my wife. Of course, I saw my GP and various neurologists who suggested epilepsy and, later, migraine. On one occasion, I was at the hospital waiting for my neurology appointment and my mobility was declining that much I had to ask for a wheelchair to get to the room. The neurologist almost ignored this! These events occurred about twice a year and between times, I was fairly OK.
I went to university in my late 30s and gained a first-class honours in Environmental Sciences. I enjoyed the experience and I loved learning. Due to my health condition however, it made things difficult. I remember one time, close to the end of first year, I was on my way back to campus and I collapsed in the middle of the road; the car thankfully drove around me.
On top of everything else, I had back problems, which led to two operations on my spine. This did, at least at first, appear to reduce some of the mobility problems, though not for long.
About a year ago, I went to my GP and said that I didn’t feel migraine explained all of the problems I was experiencing. By this time, I struggled most days and walking long distances was a problem, as was standing for long periods, such as queuing in a shop. I suggested episodic ataxia (EA) to my GP as I had inevitably been searching for my symptoms on the internet. The doctor, at my request, referred me to a neurologist.
At the first appointment, the neurologist examined me and suggested EA. I had an MRI scan and the results were fine. I also had a genetic blood test but there was a delay in getting the results, and a long wait before my next appointment. I received a letter bringing my appointment forward to June and the time was outside usual surgery hours. I guessed he probably had the results, which was the case. I had episodic ataxia type 2 (EA-2).
Finally, I got a diagnosis that made sense. I am now 63, my mind mostly works fine, although my body does have difficulty keeping up! Most of my mobility difficulties appear to be a mixture of interim issues with the ataxia and some sciatic pain. I was given the diagnosis verbally – it would have been good to have had it in writing, although my GP has been told and I have been prescribed Acetazolamide, 250mg. I am not convinced that this dose is making much of a difference at this time, so I am expecting it to be increased at some point.
On an emotional level, I feel frustrated as my idea of a good time is to be out in nature, which often requires walking around areas of interest. I have found some strategies that have allowed me to do at least some of the things I would like to do, but I often have to compromise. I still work and am quite fortunate that I have some influence over how I do things. However, my health and mobility issues in particular, often take the joy out of day-to-day life.