Hi everyone. I would like to have your output on the subject, as well as share my family's journey with the disease. First let me introduce a bit myself. Im a 34 years old women (NOT a carrier) from Montreal, Canada. I speak French, so please excuse any mistakes. It's kind of hard for me to write in English, especially with medical terms.
My mom (63) and both my brothers (38 and 36) suffer from this disease. My youngest brother was diagnosed at 14 with ALD, showing only symptoms of Addisons disease since early childhood. It's his increased pigment (melanin) in the skin that eventually made the doctors suspect ALD and then research all our family. Turns out my other brother (and my grandfather, my aunt and one of her son) had also the gene mutation but was asymptomatic, so was my mother (and it was thought at that time, in 1998, that women carrier never get symptoms). I was also tested at the time and found out to not be carrying the gene.
My 38 years old brother, though asymptomatic for a long time, started to have lower body symptoms in his early 20's, and eventually was bound completely to a wheelchair around 28 years old. He also had other 'typical' symptoms of AMN like bladder control issues and extreme fatigue. He still had a wife and 2 kids, working as a mechanic in his own shop, adapted to his disabilities.
My 36 years old brother managed to live a good life, have a wife and kids and then eventually started to show behavioral adnormalies in the last 5-6 years (although it is extremely hard to say exactly when these started). It got to a point where he had cerebral damage and it was to late to try anything. After escalating symptoms and added lower physical body issues, he now lives in a full time caring home and he just 'isn't there' anymore. He has some short term memory problem but long term memory still works, and he doesn't seem to really understand (thank god) what is going on.
My 38 years old brother seems to have cerebral damage as well, as he began to have important behavioral changes in the last 2 years, which have accelerated full speed in the last 2 months. He his now in a 'critic' position and his medical team is trying to see if a transplant could save what he has left. I understand that there has only been a very limited amount of transplant on adults, but it may be his only chance to avoid 'ending' as bad as my other brother, even considering the risks of the procedure.
It is an extremely hard moment for both my parents and I, especially for my mom who also suffers a variety of symptoms since her late 40's. All the information I had in the past was that Cerebral form of AMN was never affecting women. But now seeing how bad it affects both my brothers, and knowing that AMN/ALD is still very unknown, I am beginning to be real scared that my mom might also get cerebral damage eventually (she already has severe physical symptoms, back pain, bladder control, using full-time walker or wheelchair, and a lot of other).
I am sorry for this loooong post, but if anyone has insight of any of these matters, I'd be happy to hear from you. As a non-carrier, I feel blessed, but also extremely useless, and the only thing I can do appart from supporting my family is to try to be as informed and I can. Thank you !