Memories of finding out about Friedreichs Ataxia.
1st February 2012
I was taking a break from revising in my room, and went through to the kitchen to talk to my mum. It was my grandad’s birthday and I wanted to find out what time we would be leaving to go and see him. Both my mum and dad were in the garden pottering about so I went out to speak to them.
I hurried back inside, keen to get out the cold and clear away all my revision notes before going to see my grandad. But as I headed back through the kitchen and towards the hall, I noticed a letter on the bunker; it had the NHS Lothian logo on it.
My nosiness meant I had to stop and take a look at it. It had my name on it but it was addressed to my parents. I had been to see a doctor – I didn’t know at the time it was a neurologist – at the hospital in Edinburgh a few months prior for my ‘nerve problem’ and this was a copy of the doctor’s letter to my local GP, giving an update as to how I was getting on.
I remember there being a list of the conditions I had, just above the paragraphs of text. 1. Asthma – yep. 2. Scoliosis – of course. 3. Cardiomyopathy – I knew anything with cardio in it related to the heart and for some reason, I thought it was maybe something to do with my asthma. 4. Friedreichs Ataxia – what the f*** is that? I tried to scan through the paragraphs below but my mind was already in fifth gear, scrolling through all my memories trying to think if I had ever heard the expression ‘Friedreichs Ataxia’ before. Only a small phrase from the paragraphs stuck in my head … ‘slight enlargement of the left ventricular but stable’.
What the hell is a ventricular?
I put the letter back down on the bunker, just as it was, so my parents wouldn’t realise I had been snooping.
However, unbeknownst to me, this was my mum’s plan all along. She knew I had to know about FA now but couldn’t find the right way to reveal the news to me. There was no right way, and she couldn’t bring herself to look me in the eye and tell me I had this genetic disorder. My dad felt the same. Therefore, this letter was left out on purpose knowing that my nosiness would get the better of me. That’s exactly what happened but instead of going back out to the garden and speaking to my parents about what I had just seen, I hurried through to my room.
My laptop was still turned on from studying, so I quickly opened Google and searched for ‘Friedreichs Ataxia’.
believe what I was reading. It was gut-wrenching. Everything fitted together
like a jigsaw, and made sense for the first time in my life; my incoordination
playing instruments, my gait getting worse, my handwriting struggles, and why I
even had scoliosis in the first place.
I’d hoped the first website had exaggerated the severity of the condition, but website after website said similar things. They were all in agreement about Friedreichs Ataxia. This wasn’t a joke or mistake.
I closed the laptop after reading the same prognosis about ten times, and looked down at my hands on the bed duvet. I remember pinching myself, like what I had seen on American films and TV shows but this was all real. There was nothing to wake up from. I wasn’t in a nightmare. I can’t really describe my emotions with any justice. Tears started to stream down my face and I got up from my bed and took a seat on the chair in my room. The tears stopped after a while and I just sat in complete silence, like I was a piece of bedroom furniture.
I was in shock.
The light had almost faded from the winter sky outside, and I was sitting in darkness when my mum came in. “Are you ready to go and see Grandad?” she asked. I turned my head so she could see my face and she immediately knew something was wrong. All I can remember was asking if it was true, did I have Friedreichs Ataxia and were the websites right about when I was going to die. The life expectancy was what had initially shocked me most about the terrifying prognosis of Friedreichs Ataxia. She just basically said that because FA is such a rare condition, doctors can’t accurately estimate things like that.
I don’t remember anything else from that night apart from getting to my grandparent’s house, and my mum going into another room with my gran to tell her about what had just gone on. My grandad was a man of few words, and with my eyes still bloodshot and bulging, he gave me a can of fizzy juice to cheer me up.
They are the only snapshot memories I have of that night.
I got up to go to school the next morning like nothing had happened, and continued to do so for a few weeks. Then on February 27th I had a university interview. It was also my seventeenth birthday.
Looking back, I find it amazing that I was able to go to that interview. It was a mixture of still being in shock and not wanting to let my parents down. In my head I had already decided not to go to university, but my mum and dad never knew that, and they’d be disappointed if I never went to the interview.
In the weeks before the interview, my feelings and emotions seemed to numb, and my mind sunk into a sort-of limbo mode. I could be seen, and physically appeared ‘normal’ to others, but inside I was neither here nor there. The bubble burst when I got home that day. My family came to visit and celebrate my birthday, but I had to go straight to bed. My body finally started to react. The anaesthesia it was under started to wear off. I was violently sick over the next few days and was off school for over a week.
When I started to perk-up I remember spending endless hours Googling research on Friedreichs Ataxia. I never normally go past the first page of search results but I’d often find myself ten pages in. Desperately trying to find news about a hidden treatment or cure that nobody knew about. How on earth can there not be at least one treatment to Friedreichs Ataxia?! No tablet, no liquid, no inhaler … no nothing! The only thing I could do to try and slow down the progression of FA was to exercise. Apart from swimming – and I wouldn’t do that out of fear of people seeing me – using a recumbent exercise bike was the only way to give myself a good workout that I could actually do. So, I bought one and put it in my garden shed before I returned to school.
Focus on exams took over again when I got back in the swing of things. The diagnosis and prognosis were put on the back burner.
After a couple of almost-ordinary weeks back at school, my mum told me about how there was a support group meeting in Glasgow for people with different types of Ataxia. It took me a few days to come around to the idea of going, but with the help of my guidance teacher – who had been brilliant with me ever since going back to school after finding out about FA– I decided to go.
I remember walking into the meeting, holding onto my dad’s arm – which I now did for a bit of support whilst walking when nobody I knew could see me. What I saw and heard was surreal and shocking.
Not only were people in wheelchairs but they looked severely disabled and immobile. A guy behind me had a machine attached to him which kept beeping and making weird noises. Then the ones who did walk were very clearly struggling. One lady used two walking sticks and she had a carer who also held onto her from the side. She then swayed about when she sat down and her head movements were all jittery. On top of all that, people spoke like what I’d imagine zombies to speak like – drunk zombies. It was so slurred, slow, and laboured.
This can’t be what I’ve got. This can’t be what is in store for me. It just can’t be. Maybe the doctors got the diagnosis wrong. Maybe I’ll be one of the unexplained miracles that flabbergasts doctors and Friedreichs Ataxia won’t affect me in the same way as others. I’ll be the golden boy.
It turned out that the meeting wasn’t a meeting at all, it was just a presentation by a doctor, giving a general overview of Ataxia. I didn’t learn anything that I hadn’t already seen on the internet. I did get speaking to the lady who was sitting in front of me at the end though. She was a doctor and had just retired because of the form of ataxia she suffered from. She gave me her email address and told me I could ask her anything I wanted to know, and rant to her about anything I wanted to complain about. She was someone to talk to who had more of an understanding of what was going through my head. That lady is now on the Board of Trustees at Ataxia UK – the national charity for people suffering with an ataxia.
My mum phoned
and spoke to my guidance teacher at school while I was off sick to tell her
what was going on. My guidance teacher then met with me every morning in my
registration class when I returned, and I often bumped into her at different
points during the day as well, and she’d ask about how I was getting on. She
also sent emails to all my teachers telling them that I was going through a
difficult time, and that would be the reason I might not be totally focused. I
didn’t need this but I appreciated her being there and I felt like she
My guidance teacher soon encouraged me to tell my pals about Friedreichs Ataxia, but I wasn’t too keen.
The morning after going to that support meeting in Glasgow however, I agreed to it, speaking to Harriet had given me a little boost of confidence. “That’s brilliant! You’re doing the right Thing,” my guidance teacher said with a big a smile on her face. She arranged for me to use her classroom to speak with my pals at lunch that day. I asked her if she could be there to support me and help with the conversation. The nerves kicked in as soon as I turned away from her. There was no turning back now. I was going to introduce FA to my pals, changing the way they saw me forever. I would never be just Connor again.
I told a few of my pals at break-time that my guidance teacher wanted to speak to them at lunch, so the ones who weren’t prefects would have to stay in for lunch as well. “What’s wrong?” “What is it?” “Are we in trouble?” “Tell us?” “Is it a bad thing?” they curiously asked. I enjoyed winding them up and listening to them trying to guess what was going on. It took a bit of the seriousness away.
I still remember getting butterflies going up the stairwell and into the classroom with my pals at lunch that day.
The teacher had moved around a few of the tables so we were all facing one another, and there was a McDonald’s bag sitting on one of the tables. She had got us half a dozen burgers. None of us were hungry as we had just eaten our lunch, but one of my pals took one for the team and scoffed a couple down just to show that we appreciated the gesture. My teacher sat down with us and turned to me and asked if I wanted her to talk. I nodded my head. She then introduced Friedreichs Ataxia and explained my situation to my pals.
I looked around the room really awkwardly and apprehensively when she mentioned things like using a wheelchair in the future – I wondered if any of them had remembered the rumours from that boy in second year, but nobody mentioned it. “Don’t think this will change the way we think of you,” one of my pals said when she mentioned this, and the rest of the boys backed him up. The only question I can remember being asked was if I would still be able to have children. None of them really knew what to say. We were all just seventeen- year-old boys.
The bell rang and the meeting was over. We stepped out the classroom and into the noisy, bustling corridor, and we all split up to go to our fifth period classes.
That was it. Like nothing had happened.
A massive weight had been lifted off my shoulders. The weight hadn’t just been there since finding out about FA, it had been there for years, I just had nothing to meaningfully talk about, explain or blame before.
exams protected me, and kept me preoccupied until I finished school. Nothing
had sunk in as I easily chose not to digest or process the shock of it. At
school I was focused on my subjects and at home I was busy revising. I was
occupied 24/7, I had a purpose, I didn’t have the time to overthink.
In one part of my schoolwork I was forced to think briefly on what had happened though. As part of my English folio I had to write a reflective essay, and I chose to reflect on my life. I found the essay on an old memory stick …
The scorching sun beams all around, lubricating my body in layers of sweat, the electric light of the sun emphasizing the luscious blue of my football boots and kit. Fists punching through the air, my eyes wide with exhilaration, and legs leaping to maximum heights in the excitement of success. Freedom flowing through my hair in the light passing winds as I dashed towards my Father. With each stride I broke records and hearts. We had won the tournament.
Football, back then, was my life, and I believed nothing could destroy us. I was a young boy overloaded with the ambition and determination, to exceed even the accomplishments of my footballing heroes. Little did I know how soon things would change.
As we ventured back to Scotland from Selsey, the winners’ trophy was passed round the team coach reverently like a new born baby. However, while we experienced a tight corner the trophy fell off a seat and cracked. Gods’ way of foreshadowing the cracks which were about to show in my personal health. We laughed it off, after all the world was a place of no stresses, no worries, and no dangers. The sense of freedom and my good health, caresses my body as I pushed forward with life and looked for new challenges. Although my first sporting trophy was now cracked, I was not overly disappointed. The same did not quite apply to severe diseases.
Once fixed, the trophy shone like the sun, absorbing the sunlight streaming in through the living room window, nestled on top of the fireplace and proudly shouting out my achievement to anyone who came through the door. My football boots lay abandoned in the garden, still clogged with mounds of mud and grass, symbols of my triumph. But outside the grey clouds began to gather covering the skies as winter drew near. The combination of heavy rain and hail stones pounded off the window, acting as an appropriate herald for the horror which was about to be unleashed in my life.
It was my Great Aunty Helen’s 90th birthday. I loved birthdays, just as much as I loved life. Cake, crisps, biscuits, and fizzy juice were an obvious recipe for childhood heaven. I was a normal child! No differences, no disability, no self-consciousness. As I stood at the sink, upper body exposed, I cleansed myself for the upcoming party. My family busily hustled and bustled their way round the house, creating an exciting pre-party atmosphere.
“Connor come here. Stand over here a minute. Try and
turn that way. David, come here a minute, come and see this.”
“What is it now Louise? Your shoes look fine. C’mon, hurry up” my Dad shouted, fed up of waiting, from the living room.
“It’s not that. Come here and look at Connor’s back” my Mum replied.
Silence. Had I gone deaf? Shocked faces looked at me, fingers pointing, hands maneuvering. An abnormal lump had appeared on the left side of my back, which grew in appearance as I bent over. The numerous ridges from the discs of my spine had begun to protrude my skin, revealing a curvature in my spinal structure.
That discovery meant life would never be the same again. Years passed and my body hit the milestone of puberty, and ultimately the end to my beloved football, due to the increased activity of my hormones rapidly increasing the rate at which Scoliosis crippled me. Hospital appointment after hospital appointment the anger and frustration built up inside of me. Why me? Why not somebody else? It is not fair! Why me? Denial continued to cloud over me, I was desperate to reverse the disabling curvature. After many failed attempts of enjoying sport again, it was clear the uncomforting and debilitating shape of my skeleton structure was doing nothing but increasing and getting worse. The pain was now inconceivable, to someone inexperienced of having something wrong with them. But things would get worse.
Light glossy grey, my x-ray hung in front of me, portraying the madness which was taking place in my body. I was moving closer to death’s door. The curve in my spine was moving closer towards piercing my lung. I was so full of rage. Why is this happening? What had I done? I wish this could just happen to someone else! The denial and frustration viciously raged inside of me. I was now a ‘sore-thumb’ of society, my normality gone. Tears aggressively carved skin from my young, innocent face, as my eyes bulged with devastation. Nature did not see the point of me anymore; he, she, or it wanted me dead. The only way to decline nature’s will, was for two rods of metal to be placed either side of my spine which would mostly recover the curvature. My life was now a scenario of man versus nature.
“Connor, come here, I know, I know, we will get through this, it will all be fine once it is over. Don’t worry, it will be fine…it will be fine”. My Mum said trying to comfort me.
From this point I knew that the care, comfort, and love from my Mum and Dad would be able to help me through this situation. They were my pillars. Something that nature would hopefully not take away from me.
After a hazy and impossibly long time spent in hospital, two lengthy poles were inserted into my back. From that moment on, they controlled and determined every step I took. They denied me the ability to play sports freely and fluently. Each day filled with anger, sadness, frustration, disbelief and pain – both emotional and physical. My body was under constant stress. Constricting the little self-assurance, I still retained in myself. I didn’t even have the confidence to have my scar exposed in public. However, these two rods of metal were, and are the only things keeping me alive.
But life has a habit of surprising me. Not in a good
way. I have learnt that my body contains a far more serious disease than I
first had knowledge of. Following a yearly appointment to the hospital, my mum
was sent an update form stating the things I had wrong with me. I caught a
glimpse of it. Two words rang out: “Friedreich’s Ataxia”. I immediately
searched the internet before my parents caught me, which is when the real
horror was revealed.
According to the internet I had a neuromuscular, degenerative disease which had many terrible consequences regarding my future; my life expectancy is severely lowered, heart disease, unable to walk unaided from my teens, slurred and slowed speech, diabetes, hearing and sight problems.
What just happened? I was so confused. Going onto further education and having plans for the future now seemed an extremely distant thought. Although I now see scoliosis a minor issue to have to deal with, it has given me the mental power to continue and fight against my genetic disease until a hopeful but not too distant cure is discovered. Until then the people closest to me help me to stay positive, shying me away from a pessimistic mind set.
After a couple of years of emotional disruption in my early teens, my body eventually fully recovered from the impact of surgery. Although the curvature of my spine is still at an angle of twenty-five degrees there is no longer any danger of death from it. However, just as I got over that hurdle, I was set with a new, far more daunting task, named “Friedreich’s Ataxia”. This disease is going to present a number of burdensome blockades in my future, however I am sure that as long as I have my family and friends beside me, anything is possible!
I clearly had a thesaurus open on Google while I was writing that, and I still can’t use commas properly.
After handing it in, I remember my English teacher asking me a question as she gave me feedback:
“What would be ‘better’… Being able to do certain activities for a limited amount of time, and then to have those abilities gradually taken away from you, or to have never experienced certain things, and therefore not having to experience the pain of the abilities being taken away?”
It was a dilemma. I couldn’t answer it so I never mentioned it in the essay. Almost seven years later I still can’t come up with a definite answer.
You might initially say that being able to experience things is ‘better’, but don’t underestimate the heartache and frustration from not being able to do those things anymore. Walking. Running. Playing sports. Dancing. Using ‘normal’ toilets. Being easily understood.
Having ‘normal’ eye movements. Having ‘normal’ hearing. Driving. Not knowing what fatigue or neuropathy is. I can go on and on. I can’t even laugh the way I used to as my muscles have deteriorated.
Personally, what makes Friedreichs Ataxia so difficult to deal with is that it is never just done. It is never finished. It is always working at degenerating your body. The ground is constantly moving beneath your feet. As soon as I get to grips with one thing, like my speech getting worse, another problem arises – like the coordination in my arms, hands, and fingers when eating meals. “Accept and Adapt” is a phrase I like, but saying it is far easier than actually living by it.
But some sufferers with Friedreichs Ataxia don’t get to experience things I have. Usually the earlier the symptoms show in a person’s life, the more severe the progression rate is, and the quicker the ground underneath their feet moves. They don’t get the chance to play in football teams or drive cars. Some children use wheelchairs before I was even diagnosed.
So, what heartache is worse? I don’t know, and it’s not about comparing and trying to prove who’s got it worse. It’s just about the common denominator that is in every FA’ers suffering
… Friedreichs Ataxia.
The main aim of me writing down my memories like I have done, was to try and raise a bit of awareness about the disease. FA is a rare condition and it is estimated that only 9% of the UK public have heard of it. This has to change if adequate funds are to be raised to find an effective treatment/cure. Ataxia UK receives no governmental backing, so people need to know about it to donate. Only 1 in 50,000 people suffer from FA, but 1 in 100 people carry the faulty gene that causes FA (the FXN gene).
I also wanted to do this in the hope that it might be able to help other parents who have newly-diagnosed children. By reading about when I noticed new symptoms and the things that went through my head, they might be able to talk to their son or daughter with a better understanding, and be more clued up about their behaviour when they experience changes.
Effective communication with their family is key for an FA’er to be able to live life despite the cards they have been dealt. I’m not great at communicating, which is pretty obvious having read this back myself, and reading this will be first time my family know about a lot of the stuff I thought about and went through.
If I knew about my diagnosis when I was younger then maybe this would’ve been different, and the burden on my mental health would’ve been eased. But I don’t know.
On the other hand, my physical health really benefitted from not knowing. I kept pushing myself to my limits, whereas if I knew about FA, I might’ve accepted defeat with certain things – like walking to lunch at school – a lot quicker. “If you don’t use it, you’ll lose it” is a well-known phrase in the Ataxia community.
I did really well in my final high school exams and got the grades I wanted. I was proud of myself. Academic success became my way of getting the feeling of purpose and achievement that I last got from playing in a football team.
I was offered places on five different courses at university and two different courses at college. Going to college was always my plan, and after learning about FA, it was easier to explain my decision to my parents and pals. I said it was because I had too much going on in my head to move away from home. Which was true but it wasn’t the full story. My confidence and mental health were still a wreck and the steps in university lecture halls were a concern.
summer, I went onto study accountancy and finance at the local college. I
directed the focus I had for my high school exams on this and excelled in the
following three years, achieving a degree with distinction. Within that time, I
went from walking unaided, to using a walking frame, and then to using a
wheelchair at my graduation – I had to be wheeled on stage by my dad to collect
my certificate as I had fallen and broken my arm a few weeks earlier from
trying to resist using a wheelchair.
Also, within the three years, I went on holiday with my pals twice, to Ibiza and Zante, and I passed my driving test. I passed not long after I started college, and not long after my graduation I had to give it up.
Four years have passed since then and I’m 24 now, and could’ve kept writing and writing. But I decided just to focus on my childhood and growing up with FA.
Thank you for reading!