New bloke

[PBaggins]

G'day all. I'm new to this group and wanted to briefly introduce myself. I found out I inherited a dodgy X from Mum years ago but honestly have never really wanted to be involved in any kind of AMN/ALD group until I came across this site. I'm 35, work full time in accounting/finance in Western Australia and thus far have been very fortunate not to have experienced any significant symptoms. Going in for another MRI tomorrow but hoping/expecting nothing to report. I've had bladder urgency/leakage for about 12 years I reckon, some numbness in my feet (been there for a long time though) and what I think is some mild stiffness in my legs (although I don't regularly exercise which needs to change) but clinically am considered asymptomatic. I've got a wife and a couple of young kids, 4 and 2 and hoping I can be around to at least see them become adults. I lost my Dad (unrelated to ALD of course) in my early 20's but thankful to have him during my childhood years. Interestingly I had a cancerous testicle removed about 4 years ago and 18 months later underwent radiotherapy to treat a recurrence in a lymph node. All clear at the moment (2.5 years later) but 6 monthly check ups are ongoing. I have wondered if this could be related to AMN? Anyway, that's enough about me. I'm looking forward to seeing what CRISPR can do in 5 years or so...sounding positive!

[pgh_]

Hi! I'm 31 years old an also consider myself clinically asymptomatic.

When i was 19 I had made a

surgery do remove my testicals, but then it was taken only one. It soppoused to be a cancer but during the surgery they found

remnants of adrenal glands. Only 8 years later, my doctor discover that it was a kind of adrenoleucodistrophy.

Interesting cases, right?!

[PBaggins in reply to pgh_]

That is interesting pgh. I understand that the testicles can be impacted in some way due to the ALD gene mutation but I'm not across the details. I guess it's entirely possible that it's just a coincidence but testicular cancer is quite uncommon.

[wilburlois15]

Hi. I'm 42 and not asymptomatic but given you're 35 and asymptomatic I'd say it's highly likely you'll live to see your kids grow up and probably their kids too, if AMN is the only factor we are considering. Like many neurological diseases, slow (or no) progression is generally a good sign and likely means that for whatever other reason you body is more able to cope with the toxic levels of VLCFA than other people.

While not on the level of CRISPR, there are a couple of clinical trials for new drugs in the offing at the moment. One, which I am involved in, is for a drug called MIN-102 which is supposed to prevent nerve cell damage from the VLCFA. There is another drug, which is supposed to stimulate another method of disposal of VLCFA, where the trial will likely start in 2020.

Good luck!

[PBaggins in reply to wilburlois15]

Thanks for the encouraging post wilburlois15! I try to stay positive and move forward on the basis that I will be around for a few more years yet. For those of us that are fortunate to have only (comparably) minor symptoms, we've almost got a responsibility to keep going as normal I reckon! I'll be sure to keep up to date on the latest MIN-102 results and any other drug that looks promising.

[COwithAMN Administrator AMN EASIER Volunteer]

Hi there




I am always interested in a new face on AMN Easier. So welcome to our club.

You seem to be doing really well, so good for you.

I’ve had AMN since about 1986-7. Soon I will have had the symptoms of AMN for more than half of my life - I am 76. We started AMN Easier in 2010 which was when I was introduced to the two guys that started HealthUnlocked.

I say all that to indicate that you can live with AMN, and treat it as a chronic disease, and also that progress regarding therapies has, up to now, been slow.

You asked abut the testicular cancer but my own guess is that it’s unrelated. There is no evidence that I know of a connection.

I am puzzled why you describe yourself as asymptomatic. Perhaps you can say some more? Your symptoms include bladder urgency, leg stiffness and numbness in the feet. That sounds to me very much like early symptoms. AMN behaves slightly differently for all of us, which means that we get some symptoms and not others. The three you mention are all pretty classic.

You will know that there is an active Aussie community for AMN - are you in touch with them?

Very best to you,

Chris

[PBaggins in reply to COwithAMN]

Hi Chris, thanks for your post - encouraging to hear that you are 76 and still managing with AMN, though I'm sure there are plenty of tough times.

I agree that testicular cancer looks to be completely unrelated (certainly no evidence I can find of any link). I guess I just prefer the rarer diseases over the common.

I would only describe myself as "clinically" asymptomatic because this is how my neurologist (who looks after a few ALD/AMN patients) would classify me based on her physical examination. On my most recent visit (about 6 months ago I think) my reflexes were normal, no spasticity in my legs, feet exhibited some mild hypersensitivity but unchanged over several years, no muscle weakness and no other obvious issues.

The numbness in my feet is probably now at a point where I could say it is related to AMN, leg stiffness is only very minor (I'm reluctant to say they're stiff because I can still walk without issue at all and haven't been very active in recent years) and bladder urgency/leakage has been a problem for about 15 years without getting worse. As a primary school aged kid I used to have an anxious bladder and often used to wet my pants at school trying to hold on. So although I suspect is AMN related, and not entirely convinced.

My Mum's cousin has AMN and is now in a wheelchair. He must be late 40's by now I'd say.

I will have to check out the Aussie AMN community.

Thanks Chris!

Phil