Part 1

Memories before the diagnosis.

It was Christmas and I was seven when my mother noticed something wrong with me. We were making our final visit up to Scotland before moving back up permanently. All the family were celebrating at my grandparents’ house, my gran had bought a novelty, plastic,

champagne set for all the younger ones to use and pretend they were drinking alcohol like the adults.

We’d all give our best impressions of my great aunty Nell, sticking out our pinkie finger and pretending we were posh. Running back through to the kitchen to get a refill, my mum noticed that whilst my champagne flute was being refilled with lemonade, I was struggling to hold it still. I needed to use both my hands to keep it balanced. I don’t remember what my

mum said, and she doesn’t either. She probably just got a bit annoyed at me as it looked like I wasn’t really paying attention.

I was a young boy high off fizzy juice. It was Christmas day, and I was surrounded by my cousins – no wonder I couldn’t stand still! It got brushed under the carpet. But my mum always remembers it. Something about it stuck in her head. If I ask her now what she thinks was the first sign of Friedreichs Ataxia that she saw in me, she says it was that incident.

 What is Friedreich’s Ataxia?

Most individuals have onset of symptoms of FA between the ages of 5 and 18 years. Adult or late onset FA is less common, <25% of diagnosed individuals, and can occur anytime during adulthood.

The Signs & Symptoms of Friedreich’s Ataxia are:

 ·     loss of coordination (ataxia) in the arms and legs

 ·     fatigue – energy deprivation and muscle loss

 ·     vision impairment, hearing loss, and slurred speech

 ·     aggressive scoliosis (curvature of the spine)

 ·     diabetes mellitus (insulin – dependent, in most cases)

 ·     serious heart conditions, including hypertrophic cardiomyopathy and arrythmias

These symptoms are not present in all individuals with FA, for example diabetes occurs in about 10-20% of individuals with FA. The mental capabilities of people with Friedreich’s ataxia remain completely intact. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. Most young people diagnosed with FA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.

http://curefa.org/whatis

*

My dad was in the army when I was a toddler; he was based in England, and when he left, he got a job with Newcastle council. We stayed in a village called Cramlington, just outside Newcastle.

I come from a large family and I remember my gran, aunties, and cousins all coming down to visit from time to time. My mum grew up with six siblings, and my dad with two, so we weren’t short of visitors, and whenever my dad got time off work, we’d travel up to see them.

My mum had lost one of her brothers shortly after I was born, and a few years later she lost one of her sisters. At the time, my gran (dad’s mum) was extremely unwell, and it was the last straw for my parents. They started making plans to move back up to Scotland permanently.

We moved back up to sunny Scotland in the summer holidays. My parents bought a house in the village where my mum was brought up, and where most of her side of the family still stayed.

*

I attended Shanklea Primary School for a couple of years while we lived in Cramlington.

There was a boy in my class who used an electric wheelchair. The only reason I remember him being in a wheelchair is because during lunch when I was playing football with my classmates, he joined in one day. Instead of passing the ball to his feet we kicked it off the sides of his wheels to involve him. That day is the only memory I have of him using a wheelchair, showing just how much, I didn’t think anything of it or care about it.

Maybe it was just selfishness, or maybe it was just because I didn’t see him any differently to others in my class. But I never once thought about how he must be feeling.

I could see that he was in a wheelchair but that didn’t mean anything to me. I knew he couldn’t get out the chair, but I never thought of there being something wrong. I hadn’t heard of the word ‘disabled’.

With the experiences I’ve had since then, I always feel a bit ashamed that I never acted differently with him, or made more of an effort. ‘The disabled world’ has definitely taught me to be far less selfish or ignorant.

It would be interesting to hear that boy’s perspective and memories of growing up and using a chair from a young age.

The education about disabilities clearly wasn’t there when I was younger, and I’m still not sure if it is there now – I hope it is. If I had an understanding when I was at school, then I’d have had more of an inclination to make an effort with that that boy.

At that age I had no idea what the future held for me, but as it happens that sort of education would’ve been invaluable for me personally as well.

As you’ll read, growing up I was desperate not to be seen as different, and this coupled with the fact I had very little knowledge of the word ‘disability’, may have resulted in my mental health being impacted far more than necessary.

I’m trying to write this to raise awareness of a rare condition, but if a good understanding of disabilities and how they affect people in general isn’t there, then it makes this task almost impossible.

Education is the key.

*

I’ll never forget my first day at Thornton Primary School.

I was greeted at the reception of the school by the head teacher and she gave me a quick tour of the building, before taking me to my class and introducing me to everyone. My class were scheduled to do P.E. that morning and by the time the head teacher took me to the class everyone was already changed and standing in a regimented line at the front of the classroom. The teacher quickly introduced herself and asked me to go and get changed.

Before I had the chance to speak to any of my new classmates, I had to get changed in front of them! I remember trying to hide as much as I could, crouching down behind the chair at the desk I had been given. There was a line of eight/nine-year-old eyes staring at me from a few feet away. A couple of sniggers burst out when I took my shirt off. I found out later from people who would soon be my best friends, just how hilarious it was that I wore a vest.

After P.E. it was breaktime.

I remember heading out to the playground with a big group of boys huddled around me like I was a celebrity, all asking me questions about my footballing ability. The first time the ball came to me, I remember trying to hit as hard it as I could in the direction of the shelter – the makeshift goals. Whilst at the same time trying not to grip my hands too tight and preserve the packet of crisps I was eating. As I took the shot, I felt myself falling back. I lost my balance and ended up lying on the ground, hitting the back of my head off the concrete.

Christ, what a start at my new school, I thought. First having to get changed in front of everyone, and then falling when you’re doing your best to impress your new class-mates playing football. I heard a cheer, and was helped back up almost as soon as I had fallen. “BAR AND IN, BAR AND IN!” one of the boys kept repeating excitedly. Although I had fallen, the shot had gone in. Zero to hero. I was lauded by the boys as the school bell rang again signalling the end of our break.

When we were walking back to the classroom, we passed the janitor, and I was displayed to him like a trophy my new pals had just won. “This is our new player”, one said. “He’s amazing, he just scored a bar and in”, declared another. From that moment on I had no problems settling in.

Friedreichs Ataxia may have been the reason I fell over that day, I don’t know. I doubt it. It’s more likely that the balancing act between the ball coming to me unexpectedly, wanting to hit an impressive shot, not wanting to jeopardise my crisps, and generally being a bit nervous was the issue.

Looking back at it though, it was about seven/eight months after my mum noticed my clumsy and unsteady hands. Maybe if the memory of falling over hadn’t been drowned out by scoring, and I remembered to tell my parents about it when I got home that day, they might have taken me to the doctors to query about my clumsiness.

It wasn’t long until they had to take me to the doctors for another reason.

*

One night in February the following year, my family were all getting ready for my great aunty Nell’s 90th surprise birthday party. A function room had been hired out in the local pub. I know it was a 90th birthday party, but I was really excited for it; all my aunts, uncles, and cousins would be there. Nights like this were why my parents wanted to move back up to Scotland, for the family to be able to celebrate together and stay close.

I remember my mum coming in my room, laying an outfit out on my bed for me to put on and shouting at me to get off the PlayStation. “Get that thing turned off and get changed. We’re going to be late!” she said. I quickly put the pair of jeans on that she had laid out, and ran through to the bathroom to brush my teeth – and put too much gel in my hair. I stood over the sink, trying not to let any toothpaste drop onto my jeans, and brushed my teeth/washed my face.

There was a lot of hustle and bustle going on in the hall outside the bathroom. My mum was walking up and down it continuously. The tone of her footsteps kept changing, first it was high heels and then something that made more of a thud than a clink. I had left the bathroom door open and just as I was finishing gargling some mouthwash, I heard her footsteps come to a halt just outside the bathroom.

“Connor stand up straight. Turn that way. David come here,” she said.

I stood as straight as I could and turned to face her. “What is it?” I asked. My dad walked into the bathroom. “Turn around and do it again, let your dad see”, my mum said without answering my question. My dad then asked me to lean over and touch my toes. “What is it?!” I said demandingly. I could tell they were concerned by their expressions. My dad started pressing in at my spine with his hands, “Does that hurt? Does it hurt here … what about here?”. “No,” I replied, “what’s wrong?” hoping for an answer this time.

“There’s a bit of your spine that isn’t straight. If it isn’t sore it shouldn’t be anything to worry about. We’ll just need to keep an eye on it,” my dad said. “Yeah don’t worry. I’ll phone up and get you an appointment at the doctor’s next week, just to let him have a look. It’ll be fine,” my mum said comfortingly. “Now go and get your shirt on. I don’t want us being the last ones at this party,” she said.

I could feel their confused eyes burning holes in my back, as they stared at me walking back through to my room. I put my shirt and shoes on, sprayed some aftershave that I had just got for Christmas, and ran out to the car.

Once I got to the party, I completely forgot all about what had just gone on. Between playing pool and knee sliding on the dancefloor with my cousins, I was a carefree eight-year-old. I doubt my parents would have been able to forget about it quite so easily. My thoughts about it were only reignited when my mum collected me from school one morning the following week for an appointment with the local GP.

I remember standing feeling silly and cold in the doctor’s room. He had asked me to take my shoes, jumper, and shirt off, and he was now doing the exact same checks as what my dad had done a few nights ago. He asked me to walk towards him and away from him. I had no

idea what he was gaining from this, but he was obviously observing my gait. He started talking to my mum as I got dressed again. I was sitting on the floor putting my shoes on and immediately after the doctor had stopped speaking, I looked up at my mum and asked her what was happening. “You’re going to get an x-ray at the hospital in Edinburgh. We need to get a better look at your spine,” she said. “Not a chance,” I replied. I didn’t even really know what an x-ray was, if it would hurt or not, and the thought of having to go to a hospital was just a no-go.

According to my mum I had never been great when it came to going to see doctors etc, as I never took pain very well, and I lost all trust when I was four/five-years-old and had to get jabs … the nurse gave me a sticker at the end. I threw it on the floor immediately, stood on it, scrunched it about with my trainers, and ran out the building. I don’t remember ever having to go to the doctor’s after that. So, my fear just blossomed from there.

To me hospitals were just your local doctor’s surgery on a grander scale – full of needles and things that could hurt you. I couldn’t think of anything worse. My mum and dad therefore had to do a lot of comfort speeches in order to convince me to have this x-ray done. “Doctors and nurses are there to help you and make you feel better. They’re not there to hurt you,” my dad would say. “I suppose that makes sense, but what about the x-ray, will it hurt?” I would

mumble back. “You won’t feel anything getting an x-ray, Connor. Stop being silly. All it’s like is standing in front of a big camera and getting your picture taken. You won’t even know it has happened,” he would reply.

We had the same conversation again and again for a few weeks until it was D-Day at

Edinburgh’s Royal Hospital for Sick Children. My dad never slipped up once or hesitated in his answers. I believed him and agreed to go to the appointment.

This place was massive. Corridors in every direction, some leading to stairwells, others towards different departments and different wards. What a place this would be for a game of hide-and-seek, I thought. There were doors on every wall of every corridor. What lay behind those doors? The unknown was making me feel a bit anxious, my stomach was churning.

We finally reached the reception, and we were told to take a seat in a certain waiting area. “Down that corridor and to your right,” the lady said with a smile. I felt fine when I arrived at the hospital, but trying to navigate its winding corridors, steep staircases, and in the energy sapping heat had left me feeling so dizzy and drained – stepping into the hospital was a bit like stepping out of a plane in Spain during the height of summer.

I’ve been for that many x-rays since my first, that I can’t single the memory out. I just remember going to the reception once it was over and then being told to sit, go to another waiting area. What’s going on now? I thought.

A nurse then appeared from another corridor behind me, read out my name, and led my parents and me into her room. She asked me to get up on the bed and then tied something around my arm. Alarm bells were ringing. I asked her what she was doing. “I just need to

take wee bit blood for the doctor to look at, it won’t hurt, you’ll only feel a scratch,” the nurse said in a soft tone. This wasn’t part of the script!

I was fuming, ready to rip the apparatus off my arm and flee the room BUT my dad was

there. I wanted to impress him. I was a man. I could take this. The nurse then gave me a “3, 2,

1, ready?”, and it was too late to run. She was right though, I didn’t really feel the needle going in.

The nurse was trying to make conversation with me to take my mind off what was happening. It was working, but the temptation to look down towards the needle was too much, and as soon as I did, my panic shot up to fever pitch levels.

Now that I had seen it, my mind was able to make me feel it, my blood being slowly sucked out my arm and filling up the numerous test tubes the nurse had. I was now sweating and felt like I was going to faint. The intense heat of the hospital wasn’t doing me any favours.

“That’s me finished,” she said, as she took the elastic band thing off my arm.

I leapt off the bed immediately and sat down beside my parents. You evil cow, I thought. My fringe was dripping with sweat and the colour had gone from my face. The nurse passed me a cardboard bowl to use for being sick in and asked me to lie back on the bed.

As soon as she said at that, I rocketed up out of the seat and sprinted out the door. In a state of panic and anger, I thought her plan was to now take blood from my other arm. I didn’t realise that she was just suggesting that I lie on the bed until I calmed down, and fully recovered.

Somehow, I managed to find my way out that maze of a hospital by myself.

The fresh air hit me and it was like I had never been outside before in my life. I walked along the side of the hospital building and found a large circular window ledge that I was able to fit myself into. I shut my eyes and leant back. The cool breeze hit against the side of my face. I was safe again. My parents appeared a couple of minutes later both grinning but trying their hardest not to laugh. “So where do you want to go for lunch? You can choose,” my dad said.

Everything was soon forgotten about.

*

After about 6-9 months, I received another appointment letter from the hospital in Edinburgh. This appointment would include going for a CT scan – similar to an x-ray I was told, and then a chat with one of the doctors.

Before that, I remember hearing my parents talking about the length of time that had gone without the hospital being in touch with us. “Well, no news is good news, don’t worry about it, it’ll be fine,” my dad would always say, trying his best to sound relaxed and calm my mum. But I could tell he was worried as well.

My mum swore on her life that there’d be no surprise blood tests, and even if there were, I made here aware that I would not be letting it happen! I was more relaxed this time as we walked through the corridors of the hospital. I knew what I was dealing with now.

The CT scan waiting area was in a different part of the hospital to where I had been to previously. Down more corridors and up more stairs. It wasn’t a long wait before my name was called, and my parents and I were led into a room.

There was a massive bit of equipment that hung down from the ceiling. The face of it was just a couple of feet up from the bed that I was to lie on. There were a couple of seats, a bit

back from this intimidating construction, for my parents to sit on, read magazines, and keep me company.

I was asked to lie down and told the scan would take about fifty minutes so I had to try and stay very still. I lay down straight away and stared straight ahead of me, I didn’t dare move a muscle in case I got electrocuted or zapped or something.

I had no idea what this machine could/would do.

The scanner looked like one of the magnetic machines they use in scrapyards to move cars around. It didn’t look technical at all. Just brutal and solid. There was nothing to even suggest that it was turned on. It was just a big, beige monster of a machine. Then all of a sudden, a drilling noise filled the room. Every five minutes the noise changed from a drilling tone, to a buzzing, and then to a droning. This went on for the remainder of the scan. I spoke to my Dad about Celtic for a while, and then I shut my eyes, and tried to forget about where I was.

I didn’t even think to ask about the purpose of the scan. I just assumed it was for my spine and was happy with that. It was actually to take a look at my brain.

The noises came to a halt, and a nurse appeared at my side. “That’s it over, Connor, you can get up now. Well done,” she said. I got up and walked out the room with my parents. “We’ll send these scans through to the doctor and he’ll see you soon. Hopefully you won’t be waiting too long,” the nurse said, before giving us directions to the next waiting area we were to go to.

I remember it being a really nice day, and the sun was blazing through the windows as we headed down more corridors, adding to the equator-like temperature of the hospital. But I hadn’t been asked to give blood by that point, I hadn’t been tricked into it, so I was in pretty upbeat spirits, and I couldn’t get enough of the extra attention I was getting from my parents because I was in hospital. I started thinking about getting home and phoning my friends to come down and play football as we reached the next waiting area.

It wasn’t really a waiting area. There were just a few seats sitting outside of what was a high dependency ward for infants. The doctor’s office was just to the side of the ward. I started getting a bit anxious, glancing through the windows behind me to the ward a few times.

Machines at the sides of children’s beds and tubes everywhere. What’s going on here?

They’re taking this spine issue a bit far. I’m not ill, I thought. I was getting more defensive the longer we waited. I never said anything to my parents, this battle was all in my head, and I couldn’t understand it.

After what felt like about an impossibly long time, I heard a comforting voice to the side of me say, “Connor Beveridge please”. I turned and there was a man standing in a doorway. He had a kind smile on his face and shook my hand, as he welcomed my parents and me into his office. I remember him having hair that didn’t look like it had been brushed for a week and a beard that required a bit TLC. But it was a look that instantly told you he was an important doctor. He didn’t care about, or have the time to think about, his physical appearance.

The way he spoke to me was the complete opposite way I thought he would come across, based on his hairy head and face. I can’t remember the specific things he asked me about, but I was immediately at ease and relaxed. Then he turned to my parents and asked if they wanted me to stay in the room.

They said no.

I turned to shut the door as I was walking out, catching a final glimpse of the doctor’s face, and that was the last time I saw him for a few years. I sat back down on the seats outside the ward and stared at the ground. I wasn’t concerned, just confused.

After about ten minutes my parents emerged from the room. As soon as my dad closed the door behind him, I began quizzing them as to why I was told to leave the room. I can’t remember the reason they gave me, but it was sufficient enough for the thought to leave my mind as quickly as it had entered it.

I had practically forgotten about it by the time we stepped out of the hospital.

My mum told me that the x-ray had confirmed the suspected curvature in my spine and it was medically referred to as scoliosis. This wasn’t a biggie. I had known about this curvature ever since my mum and dad first spotted it. What I was more interested in was what she went on

to say. “Your curvature may or may not require an operation when you’re older, it depends how your body reacts to growth spirts and things”. Although it was still a worry, I was more relieved that nothing had to happen right now. Hopefully it wouldn’t even need to happen in the future.

To most people, the future resembles a distant time or place where they don’t need to worry about things, and that is especially true for a nine-year-old boy. The only things I cared about were Celtic, and playing football with my friends, certainly not the future. So, after that, I forgot about my scoliosis for quite a while.

As we left the hospital that day, my parents chose not to burden my mind with the real diagnosis I had been given, the real reason I had to leave the meeting with the doctor.

What my mum told me wasn’t a lie, the x-ray did confirm I had scoliosis. But, in trying to investigate what had caused the curvature, the blood tests suggested I suffered from something more sinister, and the CT scan backed the results up by producing certain images of my brain.

The investigations revealed that I was suffering from a rare, genetic, and life-limiting condition. The disease was, and is called, Friedreichs Ataxia.

The doctor went on to tell my parents, that the little boy that had just walked in front of them to leave the room, would be bound to a wheelchair by his early teenage years, and have a reduced life expectancy. Moreover, as well as scoliosis, there was a chance I would pick up diabetes, and I’d almost definitely suffer from cardiomyopathy – the primary cause of death for people with Friedreichs Ataxia. Furthermore, my speech would become increasingly slurred as I got older, I would struggle with my hearing, and I’d experience difficulties with my vision – resulting in possible vision loss in the advanced years of disease progression.

What a party Friedreichs Ataxia would be.

Knowing what I do now, I have no idea how my mum and dad found the strength to stand up and walk out of that meeting. Then to face me, and to act in a way as to not make me

suspicious, it’s just incredible. I can’t imagine the horror that must’ve been going through

their minds as we walked out Edinburgh’s Royal Hospital for Sick Children that sunny day

The shock, the complete and utter shock, must’ve helped get them back to the car and complete the journey home without breaking down in front of me.

I remember going into my grans on the way back home that day. My gran was looking after my sister, Olivia, whilst we were at the hospital. Olivia and I were asked to go into the other room and close the door behind us. I didn’t think anything of this at all, or relate it to the hospital in any way, this was just the usual routine for adult conversations, and they could’ve been talking about anything.

I usually tried to listen through the door as much as I could, but I couldn’t care what was said that afternoon. I was content with what my mum had told me about my spine and I was just happy I wouldn’t need to go to the hospital again anytime soon. I sat engrossed watching my favourite cartoon on tv, completely oblivious to the devastating news my parents were now sharing with my gran.

I was only nine-years-old. There was never any mention of Friedreichs Ataxia to me. My parents let it haunt them. They didn’t want to intoxicate my mind with the diagnosis; a diagnosis that has no medical treatment whatsoever and one that surgery can’t repair. What good would it have done? My happy and carefree childhood would have been turned on its head, and my parents wanted to stop that from happening for

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