Just diagnosed with AMN

[wilburlois15]

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

[COwithAMN Administrator AMN EASIER Volunteer]

Hi there

Welcome (as I sometimes say) to the club that none of us applied to join!

Your story will resonate with many people here in AMN Easier. You are clearly dealing with AMN very well and getting in with your life. For most of us, life goes on and we develop ways of dealing with all the various symptoms and problems.

I've had AMN for more than 30 years - I'm 71 now - and, like you, I am fortunate and do not need or take any medications. I have normal adrenals. The legs do deteriorate over time and I now use an electric scooter for going any short distance more than a few yards.

So well done and do get in touch anytime. And, if you are willing, do complete your profile and say where you live - you may have a fellow AMN-er nearby who can help or vice versa. If you are in the UK, do think about coming to our next weekend get together which is in May next year in London.

Best wishes

Chris (AMN Easier Administrator)

[jolocny Volunteer]

Hello!

As Chris said, Welcome and I hope you'll continue to share with us!

I've often shared with people that the more we work WITH this disease, the better off we are! That can be difficult at times as new symptoms arise ... but we can do it!

I was diagnosed in my mid-40's, I had a few dealings with neuro's at the beginning that made life difficult for a while, finally found my diagnosis with the help of some wonderful medical folks. I do find that no matter where I go, for whatever I may need, that it's my job to educate the professionals as so few know about AMN. If that's what it takes, so be it! It'll help the next guy!!

Keep up the good work and, please, don't deny yourself the use of a cane, etc. to help with balance or a motorized cart to get around a store. You're only respecting yourself and what you need to be safe and sound.

Wishing you all the best!

JoAnn

[monkeybus]

The number of times I have hit the ground doesn't even bear thinking about. Can't wear my wedding ring after my last fall, finger swelled up so badly, with the ring on. Full marks to the doctor for getting the ring off, what a pro.

I think because I rode a motorbike for decades, I'm used to landing reasonably well.

As I may have said, since starting on 4-AP, I don't fall any more. Only a matter of time though.

[daviddmarsh]

A few years ago I was at your stage, then one day I fell and as I was getting up saw one of my fingers pointing toward 3 o'clock instead of noon. I.e. dislocated. I've had other falls and had sore wrists. There is no "controlled" fall. Swallow your pride and use a cane b/f you do some real damage.

Re Urine - not sure if it helps, but I use Vesicare - reduced peeing from 15x/day appx to 10x/day and sometimes I even get through the night.

I tried and am trying new drugs - not much seems to help w/ the walking, but have heard from others that some drugs do help. It's a person to person thing.

I still work full time. Like you I have the spinal AMN, so doesn't affect brain or apparently lifespan.

Good luck. Think about the cane.

[Hidden]

Hi,

I am an AMN sufferer, my oldest son had symptomatic ALD and sadly passed away last year. Like you I had been in denial for many years probably because I had to concentrate on getting my family through hell! My sister who is older than me walks with a stick and has many more symptoms than me. I have painful neuropathy in my legs and I take drugs for that.

I have bowel and bladder problems, and have Percutaneous posterior tibial nerve stimulation at UCLH and it is working very well for me.

You say that your family all seem fine, maybe it would be a good idea if they were tested too, you could also ask for family genetic counselling. Please keep in touch.

[Dave381]

Hi,

Your story and timeline is similar to mine - although I'm 34 now and have used a stick for the last couple of years. I have also just started to use a wheelchair occasionally - which was a big (unwanted) step but it's the only way i can go for a "walk" with my family.

I found bladder problems to be more limiting than the mobility issues. After trying various treatments i finally ended up having botox - which means you have to use intermittent self catheterisation - which is not pleasent to start with but you soon get used to it and it has changed my life for the better. I've found that sometimes you have to swallow your pride and do what is best for you.

[wilburlois15 in reply to Dave381]

Hi Dave,

I tend to agree with you about bladder vs mobility. Ultimately, in whatever way, we can get around and in most instances, speed is not an important factor when travelling from A to B. Bladder issues are more of a problem as it adds a new dimension to getting around as toilets / discrete hedgerows are required. I can regulate liquid intake when required, but sometimes feel as if my kidneys are in on some joke with regard to the quantity they can produce over a very short time period. Having said all this, my bladder issues have been a constant for a lot longer than my problems with walking so I guess my coping strategies are much better developed. Thus far I've only had very few full blown "accidents", one of which was in an MRI machine ...

Good luck

[Dave381 in reply to wilburlois15]

I suppose my bladder issues came on quite quickly so it was difficult to deal with. It was also the constant worry that got to me bit and probably stopped me doing certain things.

I've had problems in different unusual places but i think in an MRI machine takes some beating!