The devil you know

I’m fortunate (probably not the right word?!) to have been the second child in my family with Friedreich Ataxia (FA). I have a brother 10 years older than I who also has it. All the stories you hear about FAers travelling a tough and challenging road to diagnosis, yep, he did that. Doctors recognising that something wasn’t right but not managing to pin it down, he went through all that. You think not enough doctors are familiar today with FA? We’re talking late 80s. Oh and he was in his 30s, a single guy, living and teaching English in Algeria. The FXN gene was still a long way from being identified at that stage. Diagnosis was “most probable” but couldn’t be confirmed via DNA testing like it can be now.

After all that then, my diagnosis might have been straightforward you’d imagine? Not so much. I didn’t go through misdiagnosis like many people including my brother, but I did enjoy a negative diagnosis instead! But let’s go back a bit before we get to that.

The challenge I face frequently is when clinicians ask when did I first show symptoms? I explain to them that, if you knew what to look for, I might have been showing symptoms right back to when I was in school. I was rubbish at sports, but participation was compulsory in the school I went to. I hated sports at school and avoided them whenever I could. I always had a feeling, which I identify now as foreboding, an uncomfortable sensation that I’d be “found out”. What mattered at the time though, was simply that I didn’t have any ball-handling skills, so I didn’t get picked for any teams.

Young people are a) desperate to fit in and b) good at compensating. I was bad at sports but made up for it in other ways so overall, I didn’t stand out.

FA might have been present, but it must have been very mild. I guess I just changed my behaviour to compensate. In college I remember that if I drank too much I’d fall over. But that didn’t make me stand out either. Alcohol does that right? I quickly learned to drink less than my friends.

My FA is classed as late onset. I went through college and much of my working life without my balance or coordination ever being an issue. I worked in advertising, first three years in Dublin then more than three years in London. After that I was invited to take up a spot in Portugal and I guess enough things are foreign about a foreigner that nothing special about me stood out then either. I met and married my wife in Portugal and while she was a keen Rollerblader I could never do it. Everyone simply accepted that I had bad balance and moved on.

In 1995, one year married, a work promotion took my wife and me to Dubai. Our first baby was on the way and life was going swimmingly. With a feeling of maturity and sense of family responsibility I signed up for a life assurance policy. As part of full disclosure, I told them my brother had recently been diagnosed with FA and to protect themselves the insurance company put me through a range of tests, concluding finally that I did not have FA.

Most FAers I know had someone else identify a concern that caused them to follow up with a doctor as a first step toward investigation and later, diagnosis. Nobody seems to have said to themselves “Hmmm, I’m a bit wonky. I should have that checked out!” I guess everyone wants to believe “I’m normal” and when ours is the only life we have to compare with, we are! So it was my wife who, a year later said, “I think you might have what your brother has”. I’d been assured by a neurologist just one year prior that it wasn’t due to FA so I was confident; we visited an ENT specialist this time. Once again we had a specific query for him – might I have FA? – and once again the conclusion was clear – No.

Another year later and a second baby on the way. By this time, we were living in Beirut and had a GP who travelled and studied internationally, including the USA. My wife was still concerned, and he referred me to a neurologist at the American University who determined that yes, most likely I did have FA. This was still before the gene had been identified so as I recall, he determined that based on a combination of my brother’s diagnosis and tests on B12 levels.

It was especially lucky for me that both doctors made a big impression on me about the importance of regular exercise. (“If our diagnosis is correct, it will slow down the progression. Even if we’re wrong, it’ll only do you good.”) I’ve swum regularly since that time and the progression of my FA has been mercifully slow. I suspect only my wife knew for sure that anything was the matter because she was seeing me all the time. I was probably in some sort of hopeful denial myself based on a combination of my brother’s non-infallible diagnosis with having been assured previously that I didn’t have FA. I worked another year in the Middle East then a few years in China before I was offered a position with the company in Melbourne.

Only once we’d settled in Melbourne did we learn that it’s one of the most important places in the world for FA research. I made contact with researchers and asked if the situation could be confirmed either way. By that stage a DNA test was available so a little swabbing inside my cheek and a few days later my diagnosis was confirmed. It was straightforward in the end!

FA diagnosis is bad in so many ways: bad because of all the terrible things that FA will bring, and especially bad because no-one can say for sure how fast the condition will progress. But a confirmed diagnosis is good in that everything can be managed once we understand the context. As Kylie Minogue famously said: “Better the devil you know”. People have remarked on many things about Kylie; what stands out for me is her wisdom.

Everything’s changed for me since my diagnosis - where I live, my work status, my marital status - but it’s all been manageable because I understood the context. FA is an important part of my life but it’s not all of it. I enjoy all my life. It’s an important part of my story but not all of it. The more I learn, the better I understand FA, the less it bothers me. Just as every person’s different, every single FAer is different so while we can all learn from and about one another, nobody’s condition bears any reflection on mine. It’s something I have and can never get rid of so I don’t waste time or energy wishing I could. I don’t use other people as a reference for what I can accomplish, FAer or not. I can do pretty much anything I set my mind to but importantly, I’ll do it my way.

Terry O’Hanlon
fara Ambassador