My first memory of CPT2 (although I didn’t know it at the time) was as a young child, around 7 years old, on Halloween night. Picture a kid, mum had ripped up some old clothes and rubbed mud all over them, I had some dab on fake skin – we went all out, I loved my zombie costume! I really looked the part.

That night, whilst out trick-or-treating, I think people thought I was just playing the part and staying in character, but actually, I was having an attack, unable to properly bend my limbs, walking really slowly, and making noises every time there was a shot of pain. In the end, mum had to carry me home and that was the end of my night.

Ongoing Pain and Lack of Diagnosis

There were many occasions during my childhood when I would experience the pain of CPT2, especially when playing sports like football, rugby, athletics, and baseball with my school. I also did martial arts with friends. I had as normal a childhood as I could, not knowing that these activities were causing me so much pain. This pain would be everywhere – any joint that bends would sting with pain whenever I had an attack.

Numerous trips to the doctors always resulted in the same answers: “It’s just growing pains, it will stop as you get older.” But I didn’t grow that much; I’m only 5’11”! I have no idea why there was no diagnosis, maybe it was down to doctors not knowing what it was. It wasn’t until I was around 19 years old that I was finally told exactly what I had.

I did as any young adult would do – went out to celebrate my birthday with friends. But two evenings of partying were too much for my body to handle. The absolute worst attack of CPT2 I have ever had resulted in a trip to hospital, with a stay of 14 days in total. This was split between a week on a high-dependency ward, which included dialysis treatment for about a week. Never had I been so scared in my life.

It was at this point that my life changed. The positive side was that I finally knew what was happening with my body, but the negative side was the realisation that many of the things I had enjoyed doing would likely have to stop. No more football, I was a terrible goalkeeper, so no chance of taking that up. I had hoped that someone could give me a magic pill to sort everything out, but after a while, it became apparent that this was something I would just have to live with.

Advice from doctors focused on food intake, how to manage physical activity, and generally staying safe. But the long and short of it was that much of what I enjoyed doing would have to change or stop. Even today, sitting with a doctor and mentioning CPT2 will create a confused look and a pause in discussions while they look everything up on Google to get a small understanding.

Finding New Enjoyments and Successes

I’ve done my best to make sure CPT2 doesn’t stop me from enjoying my life. Socially, I still have loads of things I enjoy doing. My enjoyment of sport shifted to less physical activities, which I have enjoyed and been pretty successful with. I picked up a cue and took up pool. Playing for almost 20 years, I have competed at a high level, from local and county leagues up to proudly representing Wales on numerous occasions at pool. This has led to meeting loads of wonderful, like-minded friends and travelling to various places around the world to play.

Balancing Family Life and CPT2

I have a good career and an amazing family, with two wonderful children who keep me as busy as my body will let me. However, being a father is also impacted by CPT2. I can’t really go and have a kickabout with the kids, I can’t chase after them and play for long periods, and things like going for a walk have to be planned out and catered for to ensure I keep myself fuelled to avoid the “zombie strut” kicking in.

Additional Health Challenges

Despite all of the above, there have been other impactful health issues. At 37, I was diagnosed with high blood pressure, which was unexpected at my age. The contradictory advice I received was to exercise more to help improve and manage the blood pressure issues. I still don’t know how to manage this, given that exercise could fix one thing but worsen another.

I have always kept an eye on developments around treatments for CPT2. While I know there is no cure, I have enviously read about the advances from companies like Ultragenyx, who have developed treatments to greatly improve the lives of fellow CPT2 sufferers in countries like America. I am part of Facebook groups that include sufferers from other countries, all with stories of how Dojolvi has had a positive impact on their lives and their ability to do things that I can only dream of.

You can imagine my excitement upon hearing that discussions are underway to potentially make the medicine available in the UK for the first time. The thought of something so simple, yet so life-changing, being available to only a small section of sufferers is frustrating, to say the least. From my perspective, the ability to do things I haven’t done for years – such as going for a run to improve my health – is extremely exciting. But I also think about what it would have meant for me 20 years ago, and what it could mean for other younger sufferers in the UK, who wouldn’t have to make the sacrifices I made. They wouldn’t have to give up the things they enjoy or that their lives revolve around.

All of this from simply taking a sip of medicine each day…

It’s safe to say that during my life, this has been a difficult story to talk about and convey to others. When you mention CPT2, it’s not something anyone would have heard of. I will be eagerly awaiting the outcome of the review, hoping for what would, in the case of myself and fellow sufferers, be a life-changing decision to allow Dojolvi to be used in the UK.