More than lazy

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.

Simple, right?

Jamie-Lee is a Brisbane based FAer who is an active member of the FA community and a supporter of fara Australia.