Deadly Diagnosis

4th of March, 2002

I smiled widely as I smacked the leather seat next to me, in time to Van Morrison’s ‘Brown Eyed Girl’.

‘Turn it up, Dad!’ I called from the backseat as I bobbed and weaved to the tune. Mum turned around to watch me as the volume climbed. I joined in belting out the chorus with Van the Man.

After a moment of silence, I met Dad’s eye in the rear-view mirror and burst out laughing. Mum smiled and Dad’s eyes soon crinkled with barely contained laughter.

When Dad switched the radio off, I groaned in protest.

Dad looked at me in the rear-view mirror. ‘C’mon JL, we’re almost there, time to calm down.’

Great. I leant back into the upholstery and folded my arms over my chest, rolling my eyes as I stared sullenly out the window.  I seemed to be the only one in the car that was enjoying the trip, revelling in the fact that I’d scored the day off school to be there.

Normally we only ever drove through Brisbane to visit friends in the Northern suburbs; however, on this occasion we had an appointment with a special doctor in the city.

My parents led me through the underground maze and up past the offices, while I continued laughing and joking around as eleven-year-olds tend to do when faced with the prospect of life-changing news. I didn’t understand their sombre expressions; after all they’d got time off work to take me to this special doctor’s appointment.

When we entered the doctor’s waiting area, I instantly felt uncomfortable; the receptionist was smiling a little too widely at me and the sterile smell of lemony disinfectant choked the air around me. I sat while my parents filled out some forms. My jovial mood was replaced first with confusion, then sullen annoyance. My mouth felt like sandpaper, and I couldn’t stop fidgeting in my seat. Every single person in the almost full waiting room appeared to be over fifty – so what was I doing here? I realised they were all staring at me, like I was on display.

It wasn’t long until my parents came to get me and told me the special doctor was ready to see me.

The doctor’s office was bigger than my bedroom and hosted many framed certificates. My eyes were drawn to a couple of shelves above his desk, where all his awards sat.

I concluded that this man must be a very important special doctor. His office smelt different to the lemony waiting room; his office smelt faintly like male cologne, an oddly comforting smell because it reminded me of the way Dad smelt when he went out somewhere with Mum.

My mood improved and I wound up beaming at the doctor as introductions were made.

I noticed he was wearing a very-important-person suit without a bowtie, and I found myself missing the funny special doctor from the week before. I decided this special doctor resembled a pudgy boy in my class with his round baby face and awkward manner. The only difference was the dark goatee on his chin and his freshly ironed suit.

Straightaway he told us he had the results we’d asked for. He used a lot of big words I didn’t understand, and I ended up very confused.

While he was talking, I spied a few framed photographs on his desk – all featuring the same three people doing different things; a woman with blonde hair and a pretty face, accompanied by two laughing ginger-haired boys who appeared to be about my age. There was one photo with him in it too, so I assumed those people in the photos were his family.

I remember wondering if he ever spoke to his sons the same way he’d been speaking to me and whether they could understand him.

‘So do I have it?’ I interrupted his baffling speech. I just wanted him to give me a simple ‘yes’ or ‘no’ so I could get out of his boring office.

He cleared his throat. ‘Well, your white blood cell count is low.’ He went on speaking as though he thought I was following everything he said, and he seemed rather proud of himself; no doubt thinking he’d dumbed his speech down a lot, but apparently not enough. I didn’t understand a word he said, and I found my mind drifting between his office and the cartoons I’d watched last night.

He continued regardless, ‘So are your Frataxin levels my dear, which means your faulty genes are positive,’

I nodded mutely, so very puzzled.

‘Your nervous system receptors are negative, and the pathways through your dorsel-root ganglier are negative.’

I can’t recall much of what he said that day, and any doctor reading this will probably realise I just made most of his speech up from my limited medical knowledge. But I do recall hearing the words positive, negative, and negative again – I thought this meant the results were negative and I didn’t have FA.

‘So, I don’t have it?’ The confusion I was feeling must have shown on my face because the doctor’s face reddened.

He cleared his throat and wriggled uncomfortably in his seat, only speaking after swapping knowing looks with my parents. ‘Unfortunately, Jamie-Lee, the results indicate that you do indeed suffer from Friedreich’s Ataxia.’ When he finished, he glanced at me awkwardly like he was expecting the tears to start pouring out of me.

I honestly didn’t know what to do. So, I did what he expected me to do. I burst into tears and raced out of his office, because I was pretty sure back then that all grown-ups reacted that way when they received bad news (well, according to TV they did).

Ignoring the worried looks in the waiting room, I kept running. I heard Mum calling my name while she rushed out after me, but I didn’t stop until I reached the lift, and she only caught up when I stopped running. Wrapping me in her warm embrace she held me tight as I sobbed uncontrollably against her shoulder.

I didn’t even see that she was crying too until I felt the wetness on my shoulder.

My scrambled brain couldn’t understand the gravity of my brand-new diagnosis, and all these unrelated strands of thought about my surroundings raced through my mind: that old guy in the waiting room wearing yellow overalls and big loafers reminded me of the clown I saw at the Gold Coast show last year; I wondered what other special doctors’ lived further down the hall; I don’t understand why there is a framed painting with three red dots on it in the waiting room…

I thought of Sarah’s comment that nothing like this would ever happen to someone like me.

I just kept replaying it, and thinking how wrong she was. I couldn’t believe it – Sarah was always right.

When the lift doors opened, I pushed away from Mum and ran inside; the only other person in there left in awkward silence when she saw my teary eyes. Mum followed me inside and tried to calm me down with soothing words while we descended.

As the years have gone by, my melodramatic exit from the neurologist’s office that day has continued to play on my mind. It’s something I’d always felt embarrassed about doing – for making my parent’s even more upset because of how distraught I seemed at the time. I wasn’t that upset – I was only acting out how I thought I should, being too young to fully grasp what the diagnosis meant.

I mean, sure, I knew I was going to end up in a wheelchair, but all my adolescent brain focused on were the things happening in the present and not the future. I was more concerned with how I could persuade my folks to order a deliciously fizzy drink with ice-cream in it for me at the downstairs café and not so concerned about my future which I had no control over.

By the time the lift reached the ground level I’d stopped the waterworks, but the tears were still shining wetly on my cheeks, and I couldn’t be bothered to wipe them away. I walked together with Mum into the café.

Mum led me to an outdoor table where we sat to wait for Dad. Dad stayed behind to learn more about the diagnosis. Years later he told me the neurologist didn’t know too much about FA because it was a rare condition, and most doctors didn’t know a lot about it. The neuro told my Dad a fairly optimistic outcome would be for me to live until I turned twenty years of age. He told Dad there was no known cure or treatment and we should all go home and make use of the time we had left.

When Dad joined me and Mum he told us briefly about the bleak prognosis and more tears began flowing, tears of helplessness on their part, for me they were tears of frustration at them having-not-yet-ordered-a-Coke-Spider on my behalf. Dads face twisted with anguish when he told me I’d been diagnosed with a progressive condition. I wouldn’t live past twenty he revealed to me, the tears sliding down his face.

Responding immediately, I placed a comforting hand on his shoulder and told him not to worry. ‘Twenty is heaps old.’

And to an eleven-year-old it certainly seemed that way. When their laughter subsided, I asked them politely for what I really wanted from them – a large Coke-Spider.

That week felt so incredibly surreal; I remember feeling as though I was trapped in a movie – even though I didn’t entirely understand the serious nature of my diagnosis I knew things this dramatic only ever happened in movies.

Telling my friends was easy, even fun. I’m pretty sure they weren’t too stressed about the big picture as we spent the length of our conversation outside bouncing on the trampoline.

Mum put herself out there and came to school with me a few days later, so she could update my classmates on the diagnosis. Most fully grown adults don’t know a single thing about hereditary neuro-muscular disorders, so claiming a bunch of eleven- and twelve-year-old kids completely understood everything Mum told them would be stretching the truth. But they did understand the part about me eventually needing a wheelchair.

I’ll never forget the moment Mum tried to lighten the mood at the end of her speech. She figured if she could make a joke about my newly acquired disability, it’d let them know it was okay to still treat me normally despite the solemn nature of my condition. She told all the kids that if they weren’t nice to me, I’d run them over in my wheelchair.

No-one laughed. My peers just kept up their slack-jaw stares. The joke definitely fell flat. At the time I just wanted the ground to open-up and swallow me whole but when I reminisce about it now, I can’t stop laughing.

With the passing of time my needs expanded to include first a walking frame and then a wheelchair. Even though my needs exceeded those of most students, I was always regarded by my classmates as someone who was just like them, someone they joked around with (and I sometimes let them have a joyride in my motorised wheelchair).

I credit my ‘normal’ status to mum’s speech that day; not only did she help my peers understand my condition she made it okay for everyone at school (including me) to laugh at the ironic situations I’d wind up in over the next few years.

Family friends kept sending gifts when they heard about my diagnosis, and I soon realised the presents meant my diagnosis was ultimately very bad news. I don’t remember feeling stressed, just confused. Although, I did develop Shingles throughout the week (a rash usually caused by stress in people over the age of 80), so perhaps I was worried, at least on a subconscious level.

Sam was tested the following week for FA, although she had no symptoms apart from a slight trembling in her left hand. My parents knew FA was genetic and decided to find out sooner rather than later whether both their daughters would be disabled.

Unfortunately, Sam’s results indicated she had FA as well. I didn’t fully understand my diagnosis, so I think it’s safe to say my younger sister at nine-years-old didn’t understand hers either.

Neither one of us knew how drastically this diagnosis would change our lives but we’d soon find out.