My AMN story so far
I recently shared my experience of being diagnosed with AMN in my early twenties with Alex TLC - the charity that represents me and many other people up and down the United Kingdom who have leukodystrophies.
It was important to me to be transparent about how it started to present itself, what’s transpired along the way and some of the things I’ve learned from the whole shebang in the hope that it might be of use to someone in a similar position, as well as to raise some awareness around it too.
I’ve reproduced the text from the website below so that if the link ever goes offline it’s still viewable, but if you’d like to read it directly on their website then you can do so here.
—
It was around late 2017, aged 22, when I first started experiencing issues. Life was otherwise good; I was in a stable relationship, we had a son together, I was working part-time and studying part-time with The Open University for a degree in IT & Computing. I worked outside in the family tree surgery business in quite an active role so it was immediately noticeable when I managed to trip up and fall over several times due to a slight variation in ground height because my feet had been dragging. I remember thinking it was strange, and because I’d knocked my legs or knees at a funny angle against the ground I was unable to get up for five or ten minutes because they had gone completely numb. The first few times it happened I tried to downplay it to myself as a coping mechanism but as time went on it continued to occur, and before long it was clear I needed to get answers so I contacted my GP a few months into 2018.
It was swiftly triaged and the first appointment I had was with the muscoskeletal specialist at my doctor’s surgery. Going into the appointment, I thought it was perhaps a slipped disc or something like that because my older brother has had problems with his back before. Those expectations quickly dissipated as it was apparent it wasn’t that. I left that appointment starting to wonder what it could be. Next was an appointment at my local hospital at the Bone & Fracture clinic; again, no answers, only more questions, so this was followed up by an appointment with a neurologist who ordered an MRI and a short synacthen test. At this point it was obvious something was up but I tried not to dwell on it. I still vividly remember catching the train to the MRI appointment and using a trekking pole to help me retain some stability; it must’ve been a twenty minute walk from the station to the hospital, although it felt way longer because when each step could potentially be a pitfall any length of time feels dangerous and stressful.
I found out I had AMN through receiving a clinic letter in the post sometime in July… not an in-person appointment or anything personal like that, just a letter confirming the diagnosis (based on the findings of the short synacthen test / MRI) and a leaflet for Alex TLC (which at the time was called ALD Life) so that I could find out more information. I remember reading it through several times just so it would sink in but by that time I was in such a state of shock that I really didn’t know which way was up anymore, or what I was going to do, or how I was going to share this with my loved ones. Looking back on it now, it was an especially devastating thing to find out in a period of your life where you’re trying to put the puzzle pieces together.
The next few years post-diagnosis were difficult to navigate. I don’t have brain involvement currently, so the areas to target with therapy were my back/legs/feet and bladder. I ended up trying a few different things to help; for a few years I was receiving Functional Electrical Stimulation (FES) on my legs to help with the foot drop but it didn’t make enough of a difference to continue having yearly check-up appointments. Instead, I try to work out my legs as much as I can and use a combination of crutches / a rollator to get about inside the house. Outside of the house I use a wheelchair to get around as it takes the anxiety and risk of injury completely out of the equation and gives me the confidence to go further afield. I get foot spasms in the evening when laying in bed so I take 300mg of Gabapentin a night to remedy that. For bladder urgency I take a 50mg Mirabegron tablet each morning which helps alongside monitoring the things I drink and eat to make sure they’re not too spicy or acidic. I did have a Botox injection once to help with the overactive bladder but it was an experience I’m in no hurry to repeat. In 2021 I fell over and broke several bones in my foot which although it was a setback was also a learning opportunity to be more careful. I continue to have yearly brain MRI’s and short synacthen tests to monitor things. In terms of where I live, we had some alterations done to the house to make it more accessible (downstairs wet-room, level access, etc.) thanks to a Disabled Facilities Grant from my local council.
As I write this now in 2024, life is really rather wonderful. I’m grateful that I was young when I received the news because it’s allowed me reinvent myself and adapt pretty well to obstacles that AMN likes to throw up from time to time (it can be really frustrating, but I have to remind myself to have empathy for what my body is going through). Six years on from diagnosis, so much has happened on a personal level that it feels almost like a lifetime of memories that have been compressed into something much smaller. There really is no rulebook to pull from when dealing with something like this. I wish I knew back then the strain it would place upon others, the plans it would uproot and the toll it would take on my mental health.
It’s a journey, a process, and one I’m so thankful to have not been alone on. Though the relationship I was in at the time has now rescinded, I’m indebted for all that it taught me. The bad times were like going through fire but it made me a better and stronger person — and we successfully transitioned into a fruitful, cordial co-parenting arrangement too. To all the support from my parents (without whom I would be nowhere), my two brothers (who never cease to inspire me), my son (who will forever be my best achievement in life and who I love immensely) – to all of my extended family and friends who have helped / continue to help. Spiritually, I’ve felt the guiding hand of each of my grandparents on my shoulder at various times too; their teachings remain and are something I will always champion. I choose not to compromise my morals and standards because underneath the AMN, I’m the same person I’ve always been – and always will be, too.
I really truly love my life now. It’s been a strange experience to say the least (one I often compare to crash-landing in the ocean, washing ashore on a deserted island and learning to survive from scratch) but one I wouldn’t change. Life is more fragile than we realise and we don’t know what the tide will bring in, but that’s totally okay. It’s so important to cherish the small moments. Be present. Be thankful. Continue creating new traditions and learning a new normal… it remains an adventure — but man, I am all for it.
I am so, so grateful to live in a universe where Alex TLC exists. Their knowledge and support throughout has been invaluable. They really provide so much to the entire leukodystrophy community at this point with the breadth of their connections and the resources they’re able to provide. I particularly enjoy reading through their research summary emails as it helps retain a sense of hope through being reminded medical research is ongoing, the online workshops they provide, the annual Community Weekend events and more. The sense of community and belonging is really very strong and it’s a wonderful feeling to know you’re not alone in dealing with the hardships a long-term illness can place on the patient as well as those around them.
