The power of social media (and why being an ambassador is the best!)

We often hear negative stories about social media. How it is an addiction, how it can affect mental health, how it makes bullying so easy, etc.

Well I’m about to share a positive story with you. A beautiful, feel good story. A story that keeps making me cry happy tears.

I am a fara Ambassador so I have made it my goal to get to know as many people with FA and their families. This may be via social media or personally. I want people to know that I am here for them, as an emotional support, or whatever it is they need. I am by no means an expert, but I have FA and have been living with it for 18 years so I’ve experienced lots of highs and lows.

I have become friends with an awesome guy who also happens to have FA. His name is Karl. We’ve met at a few events and even if we didn’t have FA, I think we’d still be mates. Karl happens to be a mechanical engineer at Porsche, Melbourne. I went to Porsche one day to have a coffee with Karl and we got our photo taken in front of one of the Porsche racing cars (which has Cure FA stickers on it). Porsche Melbourne is a huge supporter of fara Australia.

I posted this photo on Facebook. 

That night, a lovely lady I know via Facebook, Kellie, sent me a message, asking what the connection was to Porsche. Kellie’s son Ben has FA too. She told me that he loves motorsport and that one of his dreams is to be a race car driver.

I texted Karl and told him this, not really thinking much of it. Maybe him and Karl could have a chat … motivate and inspire each other.

Karl had bigger ideas. He managed to connect with Kellie and invited her, Ben and Ben’s brother to Melbourne to have a tour of Porsche, meet some pro race car drivers and have a hot lap in a Porsche racing car at the Phillip Island GP circuit. There was one big problem, Ben and his family live in WA. That’s a four hour flight from Melbourne!

Not to worry. Kellie’s best friend set up a Go Fund Me page (on Facebook) and enough money was raised to fly Kellie and the boys over and pay for accommodation.

The big day is happening on Friday.

The power of social media, hey? And being a fara Ambassador. This story makes my heart happy.

Stay tuned for photos of the big day

Leah Alstin
fara Ambassador

Five things I learned at the fara Scientific Symposium, Melbourne, 25 October 2018

1.     It’s important for all FAers to join the FA Global Patient Registry

2.     Things aren’t as simple as we hoped

3.     We are all individuals

4.     Bigger isn’t always better (but it’s 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 message 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, it’s 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 Professor Wilson’s 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 Global Patient Registry and participating in trials if we get the chance, none of us is directly comparable in our FA with anyone else. It’s up to each one of us to make the most of whatever opportunities we’re 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, including MRI scans, are collected and reported, 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. 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 FA Global 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!

Terry O’Hanlon
fara Ambassador

 

A virtuous cycle

“If you need something done, ask a busy person” they say. And they’re right. You see, what keeps busy people busy is that they’re getting things done. Add the thing you need done and it joins their list. They’ll get it done too.

Or you could set out to start getting things done yourself. Start with small things. Once you set out to accomplish one thing, as soon as it’s accomplished you want to tackle another. It’s contagious. Add the thing you needed done, and you’ll get that done too.

There are two schools of thought on approaching a to-do list. One says to prioritise the most important projects and focus single-mindedly on accomplishing them. I disagree. My recommendation is to intersperse that work with a number of smaller easier tasks so you’re notching up a continuous stream of accomplishments along the way. (As Adm. McRaven said in the inspiring commencement speech at UT in 2014 “If you want to change the world, start off by making your bed.”)

I feel the same applies to exercising, especially for FAers. Next month the first RideAtaxia Australia event will be held in Melbourne and it’ll be headlined by Kyle Bryant and Sean Baumstark, the two FAer stars from The Ataxian, a movie which chronicles their participation in the Ride Across America event in 2011 (now that’s a virtuous cycle!). But no-one just takes part in such a huge endeavour straight off. The secret is to start small.

Accomplishing things is habit-forming so set small targets at first, even very small targets. The challenge isn’t to do the big thing so much as it is to do something. Then do a little more and then a little more still. That’s our virtuous cycle – set yourself targets that are realistic and you’ll enjoy achieving them. Then make those targets a little more challenging and enjoy achieving them a little more. And so it’ll go on.

Every FAer should exercise. Focus on what you can do, no matter how modest. Then next time do just a little more. If you want to read a little more about this, there’s an excellent article here

To register for fara’s inaugural rideATAXIA Australia click here

Support FAN’s virtuous cycle in RideAtaxia Australia 2018 by clicking here.

Terry O’Hanlon

fara Ambassador

It's only a phone. It lets me be smart!

According to Deloitte, smartphone penetration in Australia is at almost the highest level in the world, at 88% in 2017. They're so useful I reckon penetration among FAers should be 100%.

Here are just three apps I have on my phone that are particularly useful considering that I have FA (there are lots of different versions of each of these you should be able to find one that's free):

Flashlight: Humans primarily use three functions to balance. 1. The vestibular system, the three interlocked, liquid-filled little rings inside our ears. 2. Feedback from whatever part of our body is in contact with the ground (usually our feet). And 3. Eyesight. With FA the first two deteriorate quite dramatically so we tend to rely disproportionally on sight. If your mobile phone has a flash, you can install an app that controls it as a flashlight. So long as you have your phone with you, you'll always have access to light. This is invaluable. (Personally, I have my phone on a lanyard around my neck, so I can have a light on and two hands free if needed).

Heart rate monitor: Dr Lynch says that when death is caused by FA, in more than 65% of cases it's directly attributable to heart complications. The two complications most common in FAers are 1. Hypertrophic Cardiomyopathy (thickening of the walls of the heart) and 2. Tachycardia and/or Atrial Fibrillation (irregular heartbeat/heart rate that goes bananas from time to time). The good news is that because heart complications are an issue for so many non-FAers too, there's lots of care available. FAers who attend the Brisbane Clinic will be having an annual echocardiogram (where they monitor for cardiomyopathy) and perhaps also 24-hr holter monitoring (where they monitor for tachycardia and/or atrial fibrillation). It's worth installing a heart rate monitor app on your phone so if ever your heart feels like it's racing you can check if it's really so, and be able to tell your cardiologist at your next appointment.

Sound level app: The hearing issue most often experienced by FAers is difficulty isolating a sound (like the voice of someone you're having a conversation with) when in a noisy environment. Again, we're fortunate that high levels of ambient noise are increasingly being recognised as hazardous to all and there are apps available to monitor the situation. My favourite is Soundprint which not only lets you monitor where you are but also post a note for other users. Consequently there are results already posted by users all over the world, including Australia, that you can check before you go out.

What other apps do you find useful in living with FA?

Terry O'Hanlon
fara Ambassador

 

 

Do you like big buts? Well this one’s huge!

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 (https://friedreichsataxianews.com/2018/01/02/friedreichs-ataxia-symptoms-largely-reversed-in-new-mouse-model-from-ucla-researchers/) and other work done by Helene Puccio in France (https://friedreichsataxianews.com/2017/09/30/iarc2017gene-therapy-seen-to-reverse-sensory-ataxia-in-friedreich-ataxia-mouse-model/) has shown that FA symptoms can be reversed once researchers find a way to get our cells producing frataxin properly (https://friedreichsataxianews.com/2018/06/05/gene-therapy-fully-reverses-friedreichs-ataxia-changes-mouse-study/).

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!

Terry O’Hanlon
fara Ambassador

Spiritual Healing

Spiritual Healing

I am at a stage in my acceptance of Friedreich’s Ataxia, where I am not always looking for a cure (although, this would be handy!). Rather, if something pops up in my life, which may better my wellbeing, I jump at it. For example, I have started doing a form of physical therapy called Bobath. It is by no means a cure for FA, but it might just get my body moving more effectively. This may mean a decrease in falls & pain. No, it’s not a cure, but it’s definitely a win.

Finding Hope Amidst a Debilitating Disability

Finding Hope Amidst a Debilitating Disability

The diagnosis

I was a happy, healthy child living on the Gold Coast, Australia when my sister, who is 18 months older than me, started having trouble walking. We would regularly walk the few blocks from our house to the Broadwater and her unsteady gait became more and more obvious. My mum, determined to get to the bottom of it, took her to several doctors. When I was 10 years old the diagnosis was confirmed and my parents were devastated.

A view on meteorology from a physicist

A view on meteorology from a physicist

Neils Bohr, a Danish physicist, is reputed to have said “It’s difficult to make predictions, especially about the future”. He was one of the smartest men to ever have lived. I guess he had an enormous respect for weathermen!

Well for us FAers, predictions are what we seek most in the world. It’s not hard to find out the list of things that’ll go wrong with us. What is hard though is getting an idea of when.