Looking of some help for a cousin with AMN

[KumarVipan]

Hi everyone -

I am new to this post so please forgive me if i am asking a question that has been already answered.

One of my cousin in India has recently been diagnosed with AMN.. he is 34 years old.

he had his younger brother died of this disease at the age of 7 (I think its called ALD for kids) around 20 years ago

Can someone please share your experiences if you are in the same age-group in terms of how fast this disease will progress and/or what supplements/vitamins he can take to reduce the progression?

I believe he is taking some kind of prescription steroids to reduce the symptoms.

We all are very scared looking at his condition (difficulty walking, periods of loosing memory and reduced sight) and any information you can provide is greatly appreciated.

Many thanks.

Regards,

Kumar

[COwithAMN Administrator AMN EASIER Volunteer]

Hello Kumar

I am very sorry to hear about your cousin in India. Unfortunately, there are no clear answers about this disease. The outcomes can range from a very gradual progression over many years, which often happens, to a much more rapid decline which can eventually lead to premature death. I have had the symptoms of the diseases for over thirty years - I am now 74. So the good news is that AMN can often become a chronic condition that you have to learn to live with.

There are no treatments that will halt the decline, so I would advise your cousin not to waste his money on supplements and vitamins for that. There are drug treatments that can help with the most common symptoms - e.g. muscle spasticity in the legs - and your cousin should explore with his doctor some of these options.

It's really important for your cousin to have MRI scans to look at his brain function and do this on a regular basis. This is really the only way of determining whether there is any evidence of brain deterioration.

I hope this helps. We wish your cousin all the best.

Chris

[KumarVipan in reply to COwithAMN]

Thanks Chris for your quick response. Really appreciated.

[COwithAMN Administrator AMN EASIER Volunteer in reply to KumarVipan]

You are welcome, Kumar. I assume you are here in the UK. I live in London and could meet if you are near there.

Chris

[KumarVipan in reply to COwithAMN]

Hi Chris - I am in Hong Kong.

Thanks for your help.

Kumar

[Aaron98]

Welcome, Kumar. I am very sorry to hear about your cousin.

Sadly, there are no good indicators for possible or likely progression in this disease. As you are aware, even in the same family, there can be different presentations and phenotypes. I have two male cousins in their 20s who both have the gene defect. One is Addison's-only at this point, and the other is thus far completely asymptomatic. This could change at any time, of course. I have been told by an ALD specialist that it is extremely uncommon for a male with the gene defect to go his entire life without exhibiting any symptoms (estimated less than 1%). My asymptomatic cousin is aware of this and is paying close attention to his body, and I feel he is emotionally ready to take on the challenges of any symptoms as they present themselves.

Have you had other members of your family tested for the gene defect? You sound quite knowledgeable, but it is important to be sure your family understands the manner in which this disease is passed on.

I wish you all the best, and please do not hesitate to post on here if you or your cousin have any questions.