The Diagnosis

By Deanna Fletcher

For five years I’ve lived with an un-diagnosed neurological condition. But now we know what it is. My entire life has changed.

I have Friedreich’s ataxia – or FA, for short. It’s an extremely rare genetic condition that an estimated 22,000 people in the whole world have, and affects co-ordination, movement and speech, mostly. Most dangerously, it affects the heart and because of this, FA is life shortening. To top it all off, it’s degenerative (gets worse over time), so most people with FA end up as wheelchair users or become reliant on some walking aid.

I know; it’s a lot. It’s a lot for a 20-year-old to be told – a lot for anyone. “Oh, by the way, you’re now considered disabled. You will get worse over time and will be in a wheelchair in 10 years. You may also have slurred speech, as well. Oh – and possibly die by 35.” 

Thanks for that, doctor! Cue mental breakdown. But then my specialist nurses took me away and told me in short: “We know it’s a lot. We know it’s dangerous and your life is going to be different than what you imagined. But all these symptoms are varied. As we’ve found, some people with FA get them and others don’t. Nothing’s changed now, just because we’ve put a name on it. You carry on. You fight. You let it make you better.“

And that’s what I’ve done. Not in the beginning, trust me: I was a mess. I didn’t want to be disabled, I wanted to be normal, but as my Mum told me: “You’ve never been normal. And what’s normal? No one’s normal.” She was right. I’ve always been slightly unhinged. Now I’ve got an excuse for it!

Pros and cons

One way I’ve accepted having FA is to look at the pros and cons. Here are the cons:

1. Wheelchair!
2. My life will be under the hospital’s microscope. 
3. I might die early… always a downer. 
4. Finding someone special when I have this condition won’t be easy. 
5. Getting around is going to be harder.
6. Looks of pity and lack of understanding from some people. 

I thought this list would be bigger! Now onto the pros:

1. I’ve met and have been welcomed into an amazing community of people, all around the world fighting FA: My FAmily.
2. I get the opportunity to travel and talk to others.
3. I’m rare! Like a unicorn or a mermaid.
4. I’ve met and become close to my hospital team, who are really inspiring people. My physiotherapist read a 266 page document on my condition and then worked out an action plan. Not because he had to, but because he WANTED to. My ataxia nurses, who I ring being a total mess, talk to me for hours if that’s what it takes for me to feel calmer.
5. I’m the fittest I’ve ever been.
6. Disability parking. Because who doesn’t want to have great parking all the time?
7. I get to take part in clinical trials all over the world.
8. I’ve now become aware of how bad my diet used to be. I’m the healthiest I’ve ever been.
9. I get help with driving finances. (Yes I can still drive.)
10. It has opened doors for me, writing wise, giving me new opportunities.
11. I’ve been made aware of how strong I can be.
12. I’ve also realised who belongs in my life by knowing who cares.
13. I know my worth. I know what I want from life and people. I know what I deserve. 

Nowadays 

As you can see, there are way more pros than cons to having FA. I see the world differently now – through fresh eyes, I guess. Life is short, so live it and love it! Travel. Do things that scare you. Tell people how you truly feel. Cherish your friends and family. 

The things that used to get me down don’t anymore. No one is better or above anyone in this world. We all have hardships. But it’s how we handle them that shows who we really are. I refuse to be angry, sad and scared anymore. What’s the point? It’s not going to change anything. I’m happy, regardless of having FA. Don’t get me wrong; it will get me down every now and again. But that’s it: I won’t let it forever. 

Everything’s changed. And I will take it day by day, and be better than I was the day before.