The Friedreich Ataxia Research Association (fara) is a not for profit organisation that supports research into treatments and a cure for Friedreich Ataxia. fara does not receive State or Commonwealth Government support and relies largely on the family and friends of Friedreich Ataxia patients and generous businesses within Australia and New Zealand to fund its research programs.
Botox…topped up! (Don’t judge me. If it was in my calves for movement or in my bladder for control, you wouldn’t judge!)
Shoes x4…organised! (I’m not even going to go into that!)
Tomorrow night is the annual fara Gala Ball in Melbourne. This night is my favourite night of the year. It is a night when FA is recognised, celebrated, tears are shed, money is raised and hope is heightened.
Everyone in the room is lovely, understanding, non judgemental, kind, giving…all of those nice words.
It is the one night where I feel a million bucks. No one stares at me because I may look a little different. No one judges me because I talk a little slower (especially after champagne). No one thinks it’s odd that I can’t hear very well in such a noisy environment. Actually let’s rephrase that…I DON’T JUDGE MYSELF!
The line for the disabled toilet is huge and I love it! Gives me a chance to catch up with all of my heroes.
I smile all night. Go to bed smiling. Wake up smiling.
Then I go home.
Home to routine.
My body needs routine to function so I’m not saying it’s a bad thing.
The gala is on the Friday night. On the Monday, I cry and cry and cry some more.
I don’t want to have FA. I don’t want to use a walker. I don’t want to fall over. I don’t want to go to appointments every day. I don’t want to have to calculate and concentrate on every move I make, every word I speak, every single thing I do really. I don’t want my children to have a mum with FA. I don’t want my husband to have a wife with FA. I don’t want to be scared of the future.
By Thursday, I should be fine again. Ready to take on the world.
It’s so true though. What goes up, must come down. In my case, crashing down.
Would you believe you were lazy if you grew up hearing it all the time?
As an eight year old I recall the sunny days with my family walking the dog down to the beach at the end of our street. A casual family outing, normally involving a pit-stop at the local petrol station to buy ice-creams; Gaytime for Dad, Calypso for Mum, two double-choc Cornettos for my little sister and me.
Enjoying each sweet lick of chocolate ice-cream, I’d watch our red staffy, Ruby doggy-paddle through the Broadwater to reach the floating stick Dad had thrown for her. After polishing off my ice-cream I’d build sandcastles nothing short of marvellous (at least I thought so), losing myself in the craft until someone (usually either Sam or Dad) stomped on them.
The only thing I didn’t look forward to on these outings was the walking part.
I liked to lead the way and my position up front provided a decent angle for my parents to observe my wonky walking. They’d often tell me to concentrate and I’d do just that for approximately five minutes (sometimes less) before my concentration would lapse; allowing my wonky walk to return, leaving my parents exasperated. ‘Don’t be lazy JL, keep focusing on your feet!’ They’d tell me.
The awkward lilt in my gait was an issue anywhere we went on foot. I was confused and angry – why couldn’t I walk like everyone else my age? I couldn’t understand why everything seemed so much harder for me. Why did I have to concentrate so intensely on walking straight when others didn’t appear to? Was I just lazy?
The answer was more complicated than I could have guessed. The symptoms I was experiencing belonged to a rare, genetic, neuro-muscular disease but no-one knew that back then.
I never blamed either of my parents for thinking I was lazy, how were they to know what was really happening to their eldest daughter? Like most people, they had no idea what a genetic neuro-muscular condition was, they didn’t have a single clue they were both carriers of the damaged gene that causes Friedreich Ataxia; there was no family history. My own faulty FA gene had been lying dormant in me since birth and at eight years of age had started to rear its ugly head.
It wasn’t long before Mum started to wonder if something other than laziness was at work in my body. She discussed her doubts with my teacher at the time, Miss Hess.
Miss Hess was a towering bottle-blonde woman in her mid-forties who didn’t take cheek from anyone. Her ‘don’t mess with me’ vibe stopped any class clowns from emerging that year, but it was her well-used ‘someone-just-farted’ expression, a combination of nose wrinkling and lip pursing, whenever someone said something she disagreed with which soon shut the whole class up.
I was a shy kid back then and only learnt how to stand up for myself years later. I remember one day in particular, Miss Hess was speaking to the class and she picked on me in front of everyone. I don’t remember her exact words just the whole class laughing at my expense while I sat there feeling the tingling burn of embarrassment rushing through my body.
At the time, Miss Hess dismissed Mum’s worries and told her she was just an over-protective mother and I was in fact, ‘simply lazy’. At the time I was playing netball for the local under-tens on Saturdays and Miss Hess was the team co-ordinator.
Mum had enrolled me and Sam in netball (probably hoping to encourage my development regarding movement) and I hated it – I didn’t mind the social aspect of being part of a team, I just couldn’t comprehend why playing netball tired me out so much compared to every other kid on the court. Maybe, I thought, they just hid their exhaustion better than I did.
Usually after the first quarter I’d lose concentration and sit on the court as the game carried on around me. I played wing attack – ironic – as I hardly ever ‘attacked’ anyone, preferring instead to let the ball whiz past overhead without even so much as an arm raise.
Other parents often urged me on from the sidelines to get up, to continue the game with the rest of the team. I never took any notice. They didn’t seem to understand how exhausted I was. My legs would start trembling and swaying on court, the desire to sit down was so strong, all I wanted was to release the tension building in my legs. The game disappeared and so did every single parent; I’d sit quietly in dark oblivion – not caring much about anything at all – until our coach came to encourage me into position after each goal.
When I reflect on those days I can’t help feeling for Mum, she was as confused (if not more confused) as I was, wondering if her firstborn had a legitimate medical excuse for being so unmotivated or if she really was just lazy. Every time my mother sought a second opinion she was shut down and her worries were credited to her maternal nature.
Mum pleaded with Miss Hess to let her come in and help out with fun class activities consisting of games with tennis balls – Mum was actually trying to work out what, if anything, was wrong with my hand-eye co-ordination.
She wondered if time spent as a toddler in Asia had something to do with my under-developed motor skills. But my sister and I are only eighteen months apart, and Sam had also spent time in Asia – her motor skills were fine so Mum wondered if it had something to do with my age. She took me to Brisbane to partake in some human movement studies – basically physio students from the local university threw a lot of tennis balls at me, watched me play on their jungle gym play-ground and made me write for them – pretty simple stuff and when they were finished they told Mum not to worry, I was completely normal, just a late-developer.
That was my first but not my last experience of being poked and prodded and misunderstood.
In the eighteen months that followed my symptoms quietened down and could just as easily be written off as ‘klutz’ behaviour. But by age ten, the symptoms reappeared with a vengeance.
Walking in straight lines became harder and harder, zig-zag steps took over, uncoordinated hands reduced my writing to slanted words and wobbly letters; completing small and fiddly tasks like sliding on zippered jeans, doing up a buttoned shirt, or even putting on jewellery became excruciatingly difficult and usually required someone’s help. My parent’s doubts resurfaced but struggling with their lack of experience, they didn’t know where they should turn.
Mum took me to our then-GP; who listened patiently and tested my fading reflexes. At the end of the consultation, while I was building houses with wooden blocks in the waiting room, our GP told her there was nothing physically wrong with me. Again, Mum was just being over-protective and worrying about nothing.
A few weeks later Mum took me and Sam to a naturopath in Byron Bay, a close friend had recommended her. She was apparently very good at healing undiagnosed problems and well worth the two-hour drive.
At the end of our consultation the naturopath informed Mum of the bad news Sam and I both had tapeworms.
I remember how horribly sick I felt imagining a massive worm burrowed deeply in my tummy and gnawing at my insides. She told us we would heal naturally and get rid of our tapeworms by using the liquids, the ten differently labelled bottles she had supplied us with. We had to squeeze a few droplets from each bottle onto the tips of our tongues daily. She told mum the tapeworm was affecting my nervous system more than Sam’s which was why my movements were so uncoordinated. Only my symptoms were showing at that stage, but according to the naturopath Sam had the same problem I did.
She did knock the nail on the head with that one.
After a few weeks of no improvement the liquid supplements ran out. Mum wanted to go back to the naturopath and replenish our supplies. She did so a few times before Dad put his foot down; the liquids weren’t helping and it was way too costly. My parents stopped seeking explanations.
The following six months went by in a fairly normal haze, my symptoms levelled out and life was good. I recall admitting to friends during that time that my worst fear in life was growing up – I never wanted to grow-up. Maybe that was a fairly obvious choice for any kid my age. Maybe the Disney movie Peter Pan had made more of an impression on me than I thought or maybe, just maybe, on a subconscious level I knew there was something twisted inside me, waiting until I was old enough before it surfaced and turned my placid world into a never-ending obstacle course.
Either way, I had only five beautiful months left of being considered ‘normal’ by everyone.
Celebrating Christmas as an eleven-year-old was fun and that year was even better – we’d flown to Melbourne to be with family. We spent Christmas day at my uncle and his girlfriend’s pub in Fitzroy, with all her family members as well.
Around lunchtime our hosts announced they were getting married in twenty minutes in the park across the road. The relaxed atmosphere in the pub switched to absolute bedlam. I ran around babbling excitedly with my cousins feeding off the eager anticipation which had taken over. My cousins, Sam and I roamed the vacant streets, in a desperate search for flowers. We gathered an assortment from neighbouring gardens to scatter along the make-shift aisle, as only self-appointed flower-girls can do.
I was so physically spent after the ceremony and my untidy symptoms really came out to play. Back at the pub, all I wanted to do was play with my cousins, so I swept the urge to rest under an adrenaline-fueled carpet. Five of us hopped behind the bar and spent ages squirting fizzy lemonade straight into our mouths from the tap – everyone else was too preoccupied to notice what we were up to.
Later one of my aunts mentioned my uncoordinated walking to Mum and said she thought that maybe I’d been drinking alcohol instead of lemonade but Mum had absolutely no time to process this comment, we were constantly surrounded by family and something was always happening.
A few days later, we drove an hour west out of Melbourne to Moggs Creek to stay with our three cousins and their parents for a week. The holiday house we rented was mammoth-sized (or so it seemed to us kids), five storeys tall, backing onto bush-filled land. Not the most ideal setting for someone with a walking problem.
I fell a lot, not only in the house but outside as well. We loved exploring the surrounding terrain – more often than not I’d come back with a scraped knee or elbow and I was getting angrier and angrier every time I tripped over nothing (which was a lot). I’d throw embarrassing tantrums because I didn’t know what else to do – I didn’t know why I was so tired all the time and why everything seemed so much harder for me.
On that trip, all four adults agreed something was definitely not right with my wonky walking. Together they discussed which specialists my parents should seek for counsel and when we arrived home the specialist visits began.
I remember Dad explaining to me why all these special doctor visits were happening.
‘We want to understand why you seem to be having such a hard-time with those troublesome legs of yours, so we’re going to be visiting some doctors who can help us get some answers.’ He gave my knee a reassuring squeeze. I wasn’t worried about what the doctors might find; I was relieved my parents were starting to understand my struggle – maybe I wasn’t just lazy after all.
The first specialist we saw was a local podiatrist. She seemed perplexed by the slight curve evident on the soles of my feet, even more confused when she observed my off-centre balance. Her decision was to refer me to another specialist, a physio she knew who had more experience with people suffering from walking difficulties.
When we saw the physio he worked with me for over an hour, repeating a lot of what I’d already done during those human movement studies (only now my symptoms had progressed to the point where it was plainly obvious something was wrong). After seeing me walk, run, and catch balls he declared something was definitely not quite right with my upper and lower limb movements but he wasn’t sure what. He noticed I favoured one side as I walked, which indicated to him that perhaps I was suffering from some sort of spinal problem. He recommended a well-known orthopaedic physician to take a look at my spine.
My parents were understandably worried, I can only imagine how Mum felt; part of her must have been relieved she wasn’t being told she was just being over-protective yet again, but another part (maybe an even bigger part) wished it was in fact only in her imagination and there wouldn’t be anything wrong with me.
I wasn’t worried at all. I just got on with my eleven-year-old life. My parents were another story; I remember they’d try not to get upset in front of me and Sam. They’d usually go outside and sit on chairs together in our front yard to talk. Mum normally wound up sobbing into Dad’s shoulder. I don’t think they knew Sam and I could always hear her crying. Every time they went into the front yard we knew what was happening.
During the consultation with the orthopaedic physician he mentioned to my parents that I did have a slight curvature in my spine, which suggested mild scoliosis. Apart from that fact, my spine appeared very healthy according to the x-rays, he couldn’t find the cause for my erratic movements which indicated that perhaps the problem was neurological.
My parents looked worried. The doctor looked sympathetic and then referred them to a private paediatrician.
The day I met the paediatrician I remember thinking he was very strange, like no other doctor I’d ever met before.
The first thing I noticed when we entered his office were the photographs plastered onto the back of his door; him smiling excitedly at the camera despite his bloody scrubs and crooked glasses, cradling a screaming newborn covered in bodily fluids. I couldn’t get past the blood and gore; I could see the vague outlines of a limp body on a table behind him and immediately thought the photos were disgusting.
‘Eeewwww! Why would you put these up for everyone to see?’ I muttered to Mum, feeling queasy as I did so.
Mum chuckled, ‘They’re strangely beautiful. He’s captured the miracle of child birth.’
‘You mean this is what babies look like when they’re born? Covered in gunk?’
‘Yes darling,’ Mum was still staring trance-like at the photos.
I wrinkled my nose in distaste right as the doctor came around the desk to greet me.
He shook my hand. ‘You looked exactly like they did once Jamie-Lee.’
I smiled shyly at him. Eyes widening as I took in his most un-doctor-like appearance. I’d already guessed he probably wouldn’t be wearing a white doctor’s coat because he didn’t work at the hospital but I still thought he’d be wearing a very-important-person suit – the kind of suit that makes the wearer stand out in a crowd. Well, this special doctor definitely stood out in his long-sleeved purple shirt, buttoned all the way to his throat, with his bright yellow bow-tie, thick glasses, and dark, wild curly hair.
I instantly liked his unassuming demeanour. He smelt like my Mum’s lemon poppy-seed muffins which set me at ease and my shyness faded almost instantly. I couldn’t help but smile at his strange jokes, he was very likable and his laugh was infectious. The thing I liked most about him though was that he spoke to me and not always to my parents, like all the other special doctors did.
As he listened to them explaining our journey so far, he never took his eyes off me, I’d been sitting at a low-set table filled with toys in the corner of his office playing while they conversed – he began noting my movements from the get go.
When they were done he got me to walk for him, then he conducted a thorough examination, checking reflexes, limb flexibility and for any visible birth-marks. He told my concerned parents that my unsteady gait was similar to another young patient he had with Friedreich Ataxia (a disease they’d never even heard of) and in order to know if I had it I would need to get a blood-test done. Then a neurologist would be able to confirm or deny whether or not I was suffering from FA.
Jamie-Lee is a Brisbane based FAer who is an active member of the FA community and a supporter of fara Australia.
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.
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!
“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.
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?
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…
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!
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.
This brings me to my recent decision to do/ try/ participate in (I don’t know what word to use) SPIRITUAL HEALING!
I’m not going to explain every, single, thing that we did, in detail. I was there for two and a half hours! However, I will explain the parts that I found significant.
The room that we were in was absolutely beautiful. As soon as I walked in, I felt safe, calm, relaxed and soothed. Visualise crystals, candles, incense, lamps, colour, coolness and an extremely comfy bed with gorgeous cushions and throws. As far as I was concerned, I was already healed. As soon as I lay on the bed, FA was far from my mind.
That was until Shanelle (my healer) said ‘I feel like you are becoming FA, rather than having FA’. Wow! I felt like I’d been hit with a lump of wood and the tears came flowing. I knew what she had said was true. Over the last couple of years, I’ve developed a sense of acceptance of my diagnosis of FA. This needed to happen as my children needed a mum who was happy with herself, content with life and a role model to them. I am definitely all of these things (most of the time). However, I think I have let FA creep a little bit ‘too far’ in. There is such a fine line between acceptance and letting something define you. I need to keep working on this…
Shanelle then gave me a plate of kinetic sand and a large selection of objects. I was to create an artwork which reflected my current mood. I was allowed 4 objects and the sand. I chose the following;
1 A Barbie leg
2 The letter ‘s’
3 A screw
4 An alien figurine
I made my artwork and I was even shocked by my creation. I spread the sand out messily on the plate. I lay the leg flat at the bottom to show my legs don’t work properly. I put the screw on the right hand side to signify a screw going into my heart. I put the letter ‘s’ beside the screw and for me, it stood for sad. I put the alien at the very top to signify an alien being in charge. DEEP! I KNOW! Who said I was happy and content? Just so you know, I’d fallen over three times this day.
My artwork gave Shanelle a deep understanding of how I feel when everything gets on top of me. You know what they say…’a picture tells a thousand words’.
Shanelle used a pendulum to check my energy flow at each of my chakras. The direction and size of the pendulum swing tells a lot about your energy. I’m not going to delve in too much about this part of the session as many personal issues arose. However, the pendulum stopped swinging around my orange, yellow and green chakras (as shown above). This signified a lot of emotion that has built up around my stomach and heart. This emotion has blocked my energy flow, therefore my chakras do not have the healing power that they should.
We talked a lot during this session and many tears were shed. However, I left feeling cleansed and powerful. I can’t wait to go back. Like I said, this is by no means a cure for FA, but the healing possibilities excite me!
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. Neither my sister or I understood why our mum kept crying - so what if my sister was going to get a wheelchair one day? Wheelchairs are fun! So what if the doctor said she was going to die before she was 20? As my sister told our parents, 'that's heaps old!' The doctors told my parents that I should also get tested, as the condition was genetic. I wasn't showing any symptoms but a couple of weeks later it was confirmed that I too had the condition. My sister and I had no idea about what we were facing...
As we came to learn, we were diagnosed with Friedreich Ataxia (FA), a debilitating, life-shortening degenerative neuro-muscular disorder. It would lead to a loss of muscle co-ordination, fatigue, vision impairment, hearing loss and slurred speech, scoliosis (curvature of the spine), diabetes and serious heart conditions. There was no treatment or cure and no hope.
Embracing my challenges
High-school was a struggle for both of us but with a support network of family and friends, we both graduated and went on to university. However, I could not seem to face FA head-on. I didn’t want to acknowledge I was in a wheelchair and could not walk, I didn’t want to acknowledge the challenges I was facing and I absolutely did not want to be called ‘disabled’. One day, I woke up to reality and realised I lived a very unique life and that if I was not going to do something important with it, I was wasting it.
I am now 25 years old, a university-graduate, a business-owner, a FA ambassador and advocate, I am on the board of a support group for FA and I live my life out loud. I help people in the FA community in any way I can, I organise fundraisers and nothing can dampen my hope for a treatment or cure. I show through my life that disability is no boundary. I embrace my challenges and I think to myself that this is exactly what I was born to do.
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.
Unfortunately, the answers just aren’t available. There aren’t enough of us to have built a giant database yet with all our data so statistical analysis can be done. The only thing they’ll tell you is that speed of progression seems to be linked to the lower of your two repeat numbers.
The reason is variables. There are just too many. Going back to my earlier analogy, weather forecasts tend to be accurate a few days in advance. They’ll give guidance up to about a week but after that so many variables could have an impact that confidence in their predictions falls pretty rapidly. It’s the same with predicting when progression will effect specific change for an FAer.
This is a problem for two big reasons. The first of course is that when we ask “what’ll go wrong with me as my FA progresses and when are those things likely to happen?”, the answers we get are “We can’t be sure.” and “We can’t be sure”. The second reason is that unless they can describe how your progression is expected to go, a drug company can’t show that their drug changes that trajectory or by how much.
And that’s why almost every research project we FAers take part in which notes change over time has an element in its conclusions noting that what they measured might be useful as a biomarker. What they’re suggesting is the confidence level they have that what they measure will change according to a predictable path as FA progresses. So far it’s a bit like the weather – prediction seems to work fine short term but other variables have an impact in time so things become inaccurate.
Identifying biomarkers that support prediction as FA progresses is important for many reasons; for example, robust biomarkers are of immense value as outcome measures for clinical trials, preferably double-blind placebo-controlled trials: two cohorts, one given the drug and the other a placebo and no one, not even the scientists overseeing the study, knows who is in which group. So long as the groups are big enough, the averages can reduce the impact of an outlier individual result.