Rare disease isn’t really, but FA certainly is
According to RVA, the national peak body for rare diseases in Australia (https://rarevoices.org.au/), a rare disease is one that affects fewer than 1 in 2,000 Australians. That would be very rare indeed.
Consider it another way though, more than 7,000 rare diseases have been described and when you add them all up, about 2 million Australians live with a rare disease. That’s about 8% of the population, not so rare after all.
fara (https://www.fara.org.au/) suggests that about 1 in 30,000 of the ANZ population is an FAer. Personally, I’ve heard that there are fewer than 500 of us, and they have contact details of fewer than 300 - exceedingly rare!
Considering that, it’s comforting to know that FA is important enough that it’s taught about in physician school. It’s very likely your GP will have heard about FA but highly unlikely they’ll ever have had a patient with it.
Three implications from this spring to mind:
1. Dealing with your GP about your FA needs to be a cooperative effort. Make sure you tell them everything, they’ll tell you what’s significant and if there’s any action you should take (and any you shouldn’t). Feel free to question things but if you’ll go against medical advice make sure to tell your doctor, tell them why, and agree when and on what basis that you’ll review that decision. If you attend an FA Clinic, your GP will get a letter a few weeks later which summarises any findings and things they should keep an eye on. (It’s about you so you’re entitled to a copy anytime).
2. Make sure every therapist you deal with (GP, allied health practitioner, specialist, anyone, everyone!) knows about the FA Clinical Management Guidelines (https://frdaguidelines.org/). These are an invaluable gift to the world. They were funded by FARA in North America but coordinated by Louise, Martin and the team at MCRI in Melbourne. They have collected the best and most relevant learnings about FA across a multitude of areas, and made them available in a searchable online directory.
3. If you deal with the NDIS, introduce them to FA every time you have a review. Personally I’ve never dealt with the same LAC for longer than 12 months. I’ve been told that a single LAC might be responsible for more than 100 NDIS clients so I’m sure they’re hearing about different kinds of disability all the time. Remember, FA is just one of more than 7,000 rare diseases and there are many not-so-rare ones too! It’s important to establish a context for whoever you deal with, every time. Explain what is FA and what are its impacts. People sometimes complain that they feel they’re asked to justify being a participant at each review. I recommend using it instead as an opportunity. Remind yourself what limitations FA places on you and what NDIS support enables you to do. That’ll be a valuable context for your discussion.