1. It’s important for all FAers to join the registry

2. Things aren’t as simple as we hoped

3. We are all individuals

4. Bigger isn’t always better (but its a good way to start)

5. If you don’t use it, you’ll lose it.

I’m a FARA Ambassador so I was invited to attend the full day of presentations at FARA’s Scientific Symposium. It was an honour of course as I’m just a regular FAer rather than a scientist. As a result though, much of what was presented was beyond me. I did understand enough to be able to say that there’s a fantastic amount of research going on in FA, not just quantity but also range of aspects being studied. The day was packed with presentations and rather than try to summarise everything I’ll expand on five points that struck very powerfully.

1.      The first and possibly most important point for us FAers wasn’t in the scientific presentations but in a presentation made at the end of the day by Jen Farmer and Ron Bartek, guests from FARA North America. It was this: every FAer can make a direct contribution to finding treatments and eventually a cure by joining the FA Global Registry.

When researchers or drug companies need a group of FAers to test a hypothesis or conduct a trial, the Registry lets them check where there are groups of FAers they can access and salient details about those in the group. If they’re confident they can get enough FAers for their test or trial, its more likely to go ahead, and sooner.

There’s one FA Patient Registry for the whole world which is managed by FARA North America. It’s much more efficient that there’s just one Registry and it includes details from FAers throughout the world. If you’re an FAer and not yet registered, or not sure if your details are up to date, please go to: https://fara.org.au/patient-zone/ and register. It’ll benefit you, benefit me, benefit all FAers.

2.      The keynote scientific presentation on the day was given by Professor Robert Wilson who has been doing research in FA for more than 20 years. With that much experience comes wisdom as well as knowledge and when he described some of his current work, I was reminded of a quote from one of the most underrated movies of all time:

Now, a few words on looking for things: when you go looking for something specific, your chances of finding it are very bad, because of all the things in the world you’re only looking for one of them. When you go looking for anything at all, your chances of finding it are very good, because of all the things in the world you’re sure to find some of them. (Daryl Zero, The Zero Effect 1998)

Here’s what I took from his presentation: inside a cell is very small indeed so although it looks like different things that do different jobs are separate when scientists represent them visually as diamonds, ovals etc. in a presentation, things are a bit more mixed up in reality, and seeking to affect just one tiny thing often has “off-target effects” when you approach it head-on.

(By the way, checking for “off-target effects” and avoiding them when necessary is a huge part of why the drug development process and trials in particular, seem to go so slowly).

One of the approaches Professor Wilson’s team is working on is as follows: Frataxin is needed to make things called iron-sulphur clusters, which are important for many cellular proteins to function correctly. FAers have reduced Frataxin as we know but that means we also have a low level of these iron-sulphur clusters. There are complicated steps from there but the end result is that iron accumulates inside the mitochondria and causes lots of damage.

Professor Wilson’s team is looking at ways to help mop up that excess iron so this damage is avoided and the cells survive. To use an AFL analogy, if FA means your midfield is weak (lack of Frataxin, poorly-performing mitochondria, the power-packs in your cells), Professor Wilson’s team is looking for a way to effect some strategic recruitment (like St Kilda picking up Dan Hannebery) to improve the midfield (overcome the iron overload), so the team (cells) get to do what they’re meant to do.

3.      As usual, there were a number of presentations looking at changes in FAers over time in the search for reliable biomarkers. If something can be identified that changes at a constant rate, or for which rate of change can be attributed to specific variables, then it’ll make the job of researchers a million times easier than it is today. If they can be certain that with normal FA progression a particular parameter would change from A to B, then to prove efficacy of a treatment or drug they’d need to show only that instead of B it has now changed to C. It would make running tests and trials cheaper, faster and easier. Sadly, while results (white matter volume in our brains, dentate nucleus volume in the cerebellum, speed and accuracy of eye movement, dysarthria severity and more) can be shown to change over time with FA progression, in each case the rate of change was different in each individual.

If as an FAer you’re hesitant to hang out with other FAers, when you look at someone whose condition is more advanced if you sometimes think that’s what my future looks like., or when you see someone whose FA isn’t as aggressive as yours and you wonder why; well the answer is that you’re special. You’re an individual and while we help one another by all joining the FA Patient Registry and participating in trials if we get the chance, none of us is directly comparable in our FA with anyone else. Its up to each one of us to make the most of whatever opportunities were given.

4.      Ian Harding (whose name and accent would almost guarantee him an audition as a James Bond baddie) outlined a group known (more Bond baddie inspiration?) as ENIGMA. While most research sites in the world have access to relatively few FAers because FA is rare, what ENIGMA hopes to do is standardise procedures for how certain imaging data are collected and reported up to and including MRI scans; so they can be combined and evaluated in aggregate.

For any study that starts with data, the bigger the sample, the better. Major themes can be identified more reliably. It’s easier to identify patterns, things that are the same. Then, to study changes, things that aren’t the same, the ENIGMA group can explore further with smaller groups or even individuals at particular locations.

5.      Findings from a study presented by Phillip Ward brought to my mind a paper written a while ago by Geneieve Tai based on a study of patients at the Melbourne FA Clinic across many years. Phillip studied changes in iron concentration in the cerebellum over time via MRI. Iron concentration is important because it’s associated with brain atrophy over time. What he found was that iron levels increased over time in FAers, but that atrophy seems to plateau. What struck me is Gen’s finding that measures on the FARS, ICARS and all the other scales seem to do the same – increase over time and then plateau.

How that was explained to me then, and makes sense to interpret these results too, isn’t that FA progression reaches a plateau, but that as FA progresses and an FAer becomes less active and less mobile, there’s less for the brain to control, so less controlling brain to lose.

In Norman Doidge’s amazing book The Brain that Changes Itself he talks of the brain being such busy real estate that when a limb or even a finger is lost, relatively soon the area of the brain that used to process movement instructions for that limb or finger is retasked to do other work. Similar finding I think.

There is a mind-boggling array of research going on in FA, all focused on determining promising therapies. Some projects are local, some global. It works in our favour that FA is so rare because the researchers tend to know each other and coordinate their work better. Although it hasn’t reached us yet, progress is definitely being made. In the meantime, what has been established beyond a doubt is that physiotherapy slows progression; regular activity, even just variety of movement is good.

Make sure you’re in the Patient Registry and stay as active as you can so when the first treatments come, you’re in the best condition to benefit from them!