Everyone’s story with Friedreich Ataxia (FA) is so very different, but the journey to reach diagnosis ends up sounding very similar. Mine started a long time before I was diagnosed five and a half years ago. I had just turned 28 and it was considered late onset diagnosis. By this time, I had had symptoms for probably close to 10 years, maybe even more. It wasn’t enough to investigate at first; I was a clumsy teenager but still played competitive sport. I was actually a very good tennis player for most of my teens but struggled as I got older. I knew I didn’t have to run far and could easily cover the size of a tennis court, but looking back now throwing a ball up in the air to serve often threw me off balance. So, like most things in my life I learnt to compensate and was ok having a weak serve if it meant I didn’t have to look up too far and take my eyes off the court. I could easily dismiss this as being uncoordinated and was probably very good at hiding it.
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.
People sometimes think that because they’re invited to participate in a research trial, participation is free. In the sense that free means without cost, it’s not. Trials are enormously complex, time consuming, and expensive. Participants might not be required to pay anything, but someone is paying.
In addition, for participants, there are costs other than money. Participation requires commitment to responsibilities that if they aren’t delivered on, could damage or even invalidate the trial. The most important of these is discretion. It’s rare that participation would need to actively be kept secret but anyone making public that they’re in a trial is simply oversharing.
Hair and makeup…booked!
Botox…topped up! (Don’t judge me. If it was in my calves for movement or in my bladder for control, you wouldn’t judge!)
Shoes x4…organised! (I’m not even going to go into that!)
Tomorrow night is the annual fara Gala Ball in Melbourne. This night is my favourite night of the year. It is a night when FA is recognised, celebrated, tears are shed, money is raised and hope is heightened.
Would you believe you were lazy if you grew up hearing it all the time?
As an eight year old I recall the sunny days with my family walking the dog down to the beach at the end of our street. A casual family outing, normally involving a pit-stop at the local petrol station to buy ice-creams; Gaytime for Dad, Calypso for Mum, two double-choc Cornettos for my little sister and me.
“If you need something done, ask a busy person” they say. And they’re right. You see, what keeps busy people busy is that they’re getting things done. Add the thing you need done and it joins their list. They’ll get it done too.
Or you could set out to start getting things done yourself. Start with small things. Once you set out to accomplish one thing, as soon as it’s accomplished you want to tackle another. It’s contagious. Add the thing you needed done, and you’ll get that done too.
According to Deloitte, smartphone penetration in Australia is at almost the highest level in the world, at 88% in 2017. They're so useful I reckon penetration among FAers should be 100%.
Here are just three apps I have on my phone that are particularly useful considering that I have FA (there are lots of different versions of each of these you should be able to find one that's free):
In the many years since diagnosis, how I describe FA has become pretty standard: with resignation. People would enthuse to me back then about how fast progress was being made in medical research and assure me how convinced they were that there would be a breakthrough in FA that I’d benefit from very soon. As time went on though and my FA progressed, it’s felt appropriate to become stoic. I’m a big supporter of FA research, but I became increasingly convinced that it would benefit FAers much younger than I when a breakthrough was eventually made.
I am at a stage in my acceptance of Friedreich’s Ataxia, where I am not always looking for a cure (although, this would be handy!). Rather, if something pops up in my life, which may better my wellbeing, I jump at it. For example, I have started doing a form of physical therapy called Bobath. It is by no means a cure for FA, but it might just get my body moving more effectively. This may mean a decrease in falls & pain. No, it’s not a cure, but it’s definitely a win.
I was a happy, healthy child living on the Gold Coast, Australia when my sister, who is 18 months older than me, started having trouble walking. We would regularly walk the few blocks from our house to the Broadwater and her unsteady gait became more and more obvious. My mum, determined to get to the bottom of it, took her to several doctors. When I was 10 years old the diagnosis was confirmed and my parents were devastated.
Neils Bohr, a Danish physicist, is reputed to have said “It’s difficult to make predictions, especially about the future”. He was one of the smartest men to ever have lived. I guess he had an enormous respect for weathermen!
Well for us FAers, predictions are what we seek most in the world. It’s not hard to find out the list of things that’ll go wrong with us. What is hard though is getting an idea of when.
I’m not a scientist, nor a medical researcher. I’m just a normal FAer. I was invited to the Symposium as part of a Patients Panel – a Q&A session for researchers who might work in a lab and might interact only with FA cells, to meet and understand real FAers, the people who’ll benefit most directly from their work.