There are too few FAers in the world

I’m sure none of us would wish FA on anyone. A key downside for those of us who do have it though is that because it’s so rare, not enough monitoring’s been done, not enough data’s been collected for anyone to paint a realistic picture of our futures. Rate of progression is probably connected with age of onset, it’s probably connected with number of GAA repeats. But no-one knows for sure.

Probably the single most frustrating thing about my FA is that no-one can tell me with any degree of confidence what rate of progression I should expect, what’s likely to change and by how much, between now and this time next year. I know that my balance, coordination and motor skills, and many other things right through to my heart condition, will deteriorate over time but I don’t know how fast. I spend my life trying to keep progression as slow as can be, but I cannot know if I’m doing well or poorly.

For now, I only have my own data which tell me that my FA’s progressing. But even that’s important. If I ever get the opportunity to be in a drug trial (or try something myself like Vitamin B1 (Thiamine)), it’ll be important to be able to track changes so a) I’ll know for sure if there’s any actual effect, b) other FAers who might try the same drug could look out for the same effect and c) because often drugs have an effect in some unexpected area.

So I track as many things as I can. I have a physio check-up each six months. When I’m at FA Clinic each year I ask that they’ll track me of the FARS scale. My cardiologist sends me for an echocardiogram once each year to see if there’s any change in thickness of the walls of my heart. I measure my blood pressure and heart rate often and keep a track of that. I also weigh myself whenever I’m at the gym and keep a record of what exercise I do in the gym or swimming pool so if ever I can’t manage something, I can track the new rate and have a note of when things changed. I also have a note of any ongoing medications I take (like Idebenone) and the dose.

If there’s a clinical trial run for any drug, they specify beforehand what change they expect and measure before, during and after. If any of us is ever planning to self-medicate, we should definitely do the same. It’s infuriating to hear of people who self-medicate and say “I find it helps” but they can’t specify what it helps with, or how they know.

There are not many of us FAers in the world so we need to all be on the lookout for anything that delays our progression or offers improvement of any kind. But we should be able to say where improvement’s noticeable in case others want to try to replicate those results.