Nick

Nick tells us about his diagnosis of AMN

Up to 2017, I have never been ill or diagnosed with more than low blood pressure. It was while on holiday in America that I first noticed walking problems. My left leg was doing an excellent job of tripping me up, all by itself. I put it down to being on holiday and the excitement of attending a large convention.

I have never been a fan of going to the doctors and the hospital. My symptoms became more noticeable over the next two years. Working in an office with so many people around me, it did not take them too long to recognise my ever-worsening balance, to the point I could not carry more than one cup of tea from the kitchen to a colleague’s desk in straight line anymore. One thing they did not see however was my attempts to walk downstairs to the building entrance, each step was accompanied an uncontrollable shake of the left leg, what was happening? It was time to start getting some answers.

It is now mid-2019, a referral from my doctor to the hospital and I am sitting down the neurologist and discussing symptoms. A blood test was followed with an MRI and now I must sit back and wait for the results. I came back from holiday and read the results, mutation in the ABCD1 gene, very long chain fatty acids, consistent with X-linked, adult-onset ALD. It was a lot to take in, not just for me but my wife as well. I can still remember the moment we sat down and discussed what these big, long medical terms meant and what Google results came back with. Emotions ran high for the next few months, what did this mean? What other symptoms will come out?

My confirmed diagnosis came in the December. The conversation was long, detailed and a lot of questions was asked and answered as honestly as could be provided. Genetic counselling was discussed, and I agreed to it straight away. Coming out of the consultation felt like a relief that I finally had a name to my pain, and I could now plan then celebrate my works Christmas party, which happened to be where I was off to next!

Over the next year, COVID aside, I have had nothing but support, not only from my family and friends but also from ALEX TLC. The charity has been excellent in their communication, helping me understand the condition better, keep me informed of scientific research but more importantly bringing fellow sufferers, their families, and carriers together.

To add some insult to the “injury” I lost my job after 30 years in the travel industry. I have used the time positively to focus on continued education, self-improvement, to learn new skills both on a professional and vocational level which will lead eventually to a new career.

I am still coming to terms with my condition, knowing it will mean a slow and progressive deterioration of myself. I am determined to make every day count and with strategies in place and the help of family and friends, I know that I will better be equipped to face any future challenges.