We’re a group of individuals who’ve all got FA and have come to terms with it, each in our own way. Just as FA is different in each FAer, so are the circumstances each deals with, and consequently how each lives their lives with it.
FA diagnosis is invariably a shock. It’s caused by having inherited two “bad” halves of a defective gene – one from each parent. But that gene is recessive so in a carrier (each parent), the good half would have taken over and they wouldn’t have had any symptoms at all. They wouldn’t have known that they were carriers. So it usually comes as a shock to the parents as much as to the FAer themselves.
Most often the diagnosis is given by a neurologist. They’ll give as detailed an explanation as they can but from talking with lots of FAers it seems that what most people remember of that conversation can be summarised in just two sentences: “FA is a progressive, degenerative neurological condition. There’s neither treatment nor cure.” It all seems pretty hopeless.
Well that’s where we Ambassadors come in! The situation’s not hopeless, it’s hopeful. And if you’ll bear with us we’ll tell you why!
Longer term it’s hopeful because there’s an enormous amount of research going on to find treatments and a cure for FA and it looks very promising indeed. FA is a very rare condition (it affects about 1-in-40,000 Caucasians in the world) but there are lots of researchers working on it, a disproportionate number quite frankly. And that’s because FA is caused by a single faulty gene. If they can find a way to fix that gene, they’ll probably be famous for finding a cure that eliminates FA forever. Most other gene-based medical conditions involve a number of genes which makes everything much more complicated.
And in the meantime, it’s hopeful because while yes, FA is progressive, there’s evidence that progression can be slowed down by healthy living and regular exercise. And in some cases not just slowed but reversed. And not just muscle strength and coordination either. Recent studies are showing that intensive exercise programmes across a number of weeks and/or intensive speech training all are dramatically helpful, and their beneficial effects can be maintained over an extended period with an ongoing, much lighter programme.
And finally, while FA does take a physical toll, it appears that intellectual ability is maintained. The most recent study shows that an FAer’s brain is affected but because the human brain is such an amazing muscle, it behaves much like the internet – it sees a lost connection as an error and rewires around it – FAers can do pretty much anything non-FAers do. We just do things differently, at our own pace, in our own way.
In this blog, there’ll be posts occasionally from each of us, telling individual stories. I mentioned before that FA is different in everyone, and each of us Ambassadors is different. Different life stages, different ages of onset, ages of diagnosis, stages of progression, rates of progression… what we all have in common though is that each of us has found a way to live our lives despite FA. FA is a part of our lives but it doesn’t control any of us.
By Terry O'Hanlon