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.

FA is a neurological condition, it’s progressive and degenerative. I do everything I can to slow that progression but even if I’m successful all I do is slow it down, the progression is still happening. However my condition is today, tomorrow it will be a little bit worse. There’s neither treatment nor cure. It’s inexorable and irreversible…

… but that’s not quite true anymore!

Work done at UCLA in America and other work done by Helene Puccio in France has shown that FA symptoms can be reversed once researchers find a way to get our cells producing frataxin properly.

They’re still quite a way from achieving that but I don’t care. I want them to do their work diligently and get it right. Treatments will benefit me whenever they’re proven, especially the holy grail of DNA editing so cells will produce frataxin efficiently. Supporting fundraisers is all very well but when it’s personal I’m more engaged. I’m impatient again and it’s a good feeling!