Real Life Stories – Haley Neville

Posted by Mike Phipps on July 16, 2020

For 16 and a half years, I lived with an undiagnosed condition that affected the strength and endurance of almost every muscle in my body. Unlocking doors, opening jars, fastening shirt buttons, walking for the bus and the dreaded annual school sports day, were all particularly difficult for me and no one knew why. It wasn’t until I saw a paediatric neurologist that I finally received a diagnosis – Myotubular Myopathy. It is important to note that my condition isn’t the X-linked Myotubular Myopathy and in comparison, is much rarer and fortunately milder.

By the time of my diagnosis, I was almost 17 years old. It was a great relief to finally find out why I had struggled with these physical activities all my life.

A DNA analysis discovered that I have a mutation of the DNM2 gene, and it is this mutation that causes muscle weakness – it impacts every muscle in my body.

I have various clinical teams who monitor my respiratory and cardiovascular functions annually, as well as a consultant neurologist. More regularly, I have a physiotherapy and occupational therapy team who provide me with support at a local level.

Having a diagnosis brought some clarity to me. Nonetheless, much about the future and what the condition will mean in the long term remains unknown. Myotubular Myopathy can present differently in different people. Consequently, future understanding as to how it will or will not progress is unknown. At present, there isn’t a cure. If I have children, they will have a 50/50 per cent chance of having Myotubular Myopathy, and it could be more or less severe than it is for me.

Every day, I learn more about my condition. Some days I wake up, and my muscles, particularly in my left leg (which is weaker) hurts, making it harder to walk than on other, non-aching days. This happens for no apparent reason and is challenging, to say the least. Instances like this had a huge impact on my job when I used to work in retail.

While I try to live my life as normally as possible, holidays are particularly challenging. During a holiday to Krakow in 2016, I had a serious fall and injured myself. I find any physical activity more tiring than someone without the condition. On this occasion, I overdid things, resulting in a fall. The consequences of which had a huge impact on the rest of the trip.

Unfortunately, falls such as this are common with my condition, and I must continuously assess situations day to day to prevent these incidents. Climbing stairs and long distanced walking can be particularly difficult and takes me longer than most people. This is often challenging for others to understand. During my higher education, it was somewhat of a juxtaposition. The educational institutions were highly supportive, yet I was amongst young people who had very little knowledge and understanding of my condition.

Unlike some conditions, I haven’t developed this at a later age. I was born with it and have had to continually adapt and assess throughout my life; something I’m used to now at the age of 23. This can be frustrating as there are just some things I’m unlikely to ever be able to do in my life that I might like to; such as climb Mt. Kilimanjaro. However, there are lots of things that I can do, even if I have to do them slightly differently to everyone else.

In comparison to other people’s conditions, mine can sometimes seem minuscule. Conversely, when comparing myself to my friends and peers, it is more apparent that I must live and work differently day to day.

The world would be an incredibly dull and less colourful place if we were all the same. Although I have days where I get angry or sad about my mobility and how it could deteriorate further in the future; it’s a part of me, and I wouldn’t be who I am today without it. It’s what you can do that counts!