I got a letter 4 days ago saying I had a defect in the ABCD1 gene and that this confirmed my diagnosis of AMN.
I'm 38 and have had symptoms since at least the age of 24 when my brother noticed I was walking oddly. For me it became clear that something was wrong from the age of 30 or so. I initially thought I was injured but after referral to a neurologist in 2007 it became clear that there was something else at work. The neurologist could not find anything and neither could another one in 2009. In 2014 after falling down some steps I went to my local GP and the process began again and here I am at last.
I've lived largely in denial about it for the past 10 years. This hasn't been helped by my first two encounters with neurologists who suspected MS but could not find anything on MRI and thus the trail went cold. My walking is bad and I have some bladder problems but otherwise I am fine. In some ways the slow rate of progression makes me think that my symptoms are stable, but the change is clear over say 5 years. I fall a lot but maybe due to my age I tend to bounce back and don't get hurt. My philosophy with falling is that it is better to do a controlled fall and get up again (albeit upsetting bystanders) than hurt myself trying to remain upright.
Reading through the comments here, I feel lucky. I have no pain and no tiredness. I take no drugs but then again I try to avoid taking drugs for anything. I use no walking aids, which might be an artefact of my denial, but is mostly out of the view that once warmed up (10 minutes of walking say) I get better. I also need the use of my hands in case I fall. I keep active and do some daily stretches and step up exercises but that is about it. I've always been relatively uncoordinated so team sports have never been my thing but I do miss running. My bladder is probably the thing which makes the most difference in my life but that has been more-or-less a constant for the past 10 years so at most times I manage it well.
I gave up my job at the start of this year. Mostly for family- and work-related reasons, but clearly health is also an aspect of this. My wife has a good job and frankly my job involved 10-12 hour days sat in a chair, and that certainly wasn't good for my legs. I will need to go back to work at some point, but after 15 years solid slog and with 2 young kids I am not in a hurry.
The diagnosis of AMN is upsetting in some ways as I probably preferred living in denial, but it is also clean and clear. I am very unlucky to have this condition but also very lucky not to have had ALD as a child. Thankfully my adrenal glands are fine and my MRI is clear. I am mostly upset about my daughter who will be a carrier and have to go through invasive tests if she wants to have children. I am happy that my son is free of the gene. My wife bears up well and is happier to have a conclusive diagnosis rather than a husband in denial. Fortunately there is no family history: my brother (36) seems fine as do my mum (67) and her two brothers. Hopefully it will only ever be just me in our family.
I'll probably write more here occasionally. Good luck everyone.
Wilbur and Lois are my cats