Genotypes, Phenotype, Whatotypes?

I expect every man with AMN knows full well how he got to where he is. We all know that while dad did his part proper on the Y, over on the X side, well, politely, mom shared a gimpy chromosome. Thus, the term, X-linked, as in the umbrella term, X-ALD.

This, boys, is our genotype. It is contained in every single cell of our bodies. Every male on earth with AMN shares this special characteristic, as far as I have come in my understanding of things.

The disease seems to take a reckless and unpredictable course from this common staging point. Your destiny, is determined by your phenotype. According to what I have been told, your phenotype is a function of factors besides genetics (genotype).

In the case of X-ALD, possible phenotypes are: ALD, straight up Addison’s Disease, the so-called “Pure” AMN or cerebral AMN, to name a few.

It is said that different phenotypes arise as a result of environmental factors. So, when I think of that, air pollution and heavy metal exposure come to mind. I do not think, though, that this is right. Many years ago, Dr. Moser explained it to me as “an enhancer gene,” resulting in an inflammatory component. With what goes on in the brain when cerebral involvement kicks in, I am not sure I’d call that much of an enhancement.

Whatever it is, there is likely universal agreement, that there is bad X-ALD and much worse X-ALD. And that is what is so, so strange about this beast. My family, likely like many others, seems to cover the spread of options. From my cousin Zach, taken by childhood ALD way before his time, to brother Todd and Cousin Chris, knocked down hard in their prime by cerebral AMN, to myself and brother Matt, who is far less symptomatic than I.

Very little separated our upbringings, but yet so much distinguishes our disease, and the damage that it does. Why? I have never heard a good reason. Have you? Even a not so solid reason would be great. I just, sort of, well, want to know.

Please share. Remember, keep it straight. Brad

Published by bradleygillespie

I am just a guy with a disease called adrenomyeloneuropathy. I want other guys with the disease to see the good parts of disability. Not the gloom. Not the doom. Make sense?

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: