It was the Friday before Mothers’ Day when Dr. Moser dropped the bomb. My body proved resilient, remaining virtually the same as it was the day before, the month before, really even 5 years before. Everything else, though, at least everything that I could see, was flipped on its head. This decapitation of my physical reality from everything else was a wholly emotion-based construct. Easy enough to identify it as such, years on, but impossible to know in that time and place. As a result of this clear difference of opinion, I am confident that it would be difficult for a purely logic-based outsider looking in to understand. On the other side, I expect that to anyone with even a bit of a soul, it might make some sense. I was not worrying so much about these critics. I was focused on only myself, and a tiny bit on those closest to me. Yes, the recent developments were rough. And who can say after the fact, but I believe that the vast unknown part of the story, what the heck was going to come of me, weighed heaviest.
For whatever reason, I had to see mom. No idea why. I felt totally in control (shock?) but really needed to be with her. No worry for my own or my wife’s welfare, but was very worried about what it’d do to my mom. No nervousness, same for fear or acceptance. I guess I just was.
We got a late go of it. We must have stopped off somewhere in Pennsylvania or Ohio. I slept fine and all was well until I got into the shower, where I quickly lost it. I remember crying hysterically. For the first time, I was scared, of my own outburst! Why? I expect it was straight forward. I would soon die, and what would this do to mom? I cried for a while, then got it together and turned off the water, got dressed and continued. I don’t remember much about the trip except that I think my fears for mom were exaggerated. She seemed ok. It was olde Wayne that was having problems. That guy always had been the sensitive one in the family.
I have no recollection of that trip. I was eager to get back home and try to figure out what was what. I quickly found that there was no obvious roadmap to help plan a course. I took stock of my resources. At the time, I worked at the U.S. Food and Drug Administration. This offered a useful amenity: a medical library with hundreds of mainline and obscure journals. The place was set up in an out of the way, windowless part of the building. It was not like a library in the traditional sense. There was no friendly and helpful librarian or the massive oaken tables of a reading room that I had grown accustomed to at the University of Illinois. Instead, there were dozens of shelves, stuffed with bound volumes of journals. There were so many books, on so many shelves, they employed a sort of expanding shelf system. The shelves were all squished tightly together. Once you found the shelf that you were interested in, the press of a button a moved all of the other shelves to the side on a track, providing just enough room to fit in between and grab the volume of interest. And of course, in the days before the internet, there was no automated approach to determining which journal article that you wanted to read. Instead, it was possible to search out specific articles using the Index Medicus. Index Medicus was an ingenious bibliographic system built around a series of bound volumes allowing you to search by certain terms. It was primitive, and whole lot harder to use than Google, but it was an effective way for me to find publications relative to my search for the understanding of X-ALD.
I began reading everything that I could get my hands on. First, what is this adrenoleukodystrophy thing? It is classified as a peroxisomal storage disease. Great, I guess, but what of it? From what I could tell, while I have the right peroxisomes (to break down very long chain fatty acids [VLCFA] for the job), I lack the transporter needed to take the VLCFA to the perioxisomes for their deconstruction. So, it is like I have the right factory, staffed, equipped and ready to go, but no trucks to bring in the raw materials. As a result, with no way to break them down, these un-metabolized VLCFA stack up. Like many things, too much can be bad. VLCFA are no different. Without a means to break them down, they accumulate to toxic levels. Toxic to a bunch of different things, I am told, like myelin, the adrenal gland and sadly, testicles.
X-linked adrenoleukodystrophy (X-ALD) is the umbrella disease with a wide range of clinical severities to choose from. Each of these animals is genetically identical. Nonetheless, for reasons that I could not understand, some are nastier than others. ALD, which is what Zach had, has a malicious inflammatory component that chews up the brain. AMN (adrenomyeloneuropathy), my type, appears to be the most common sub-type, comprising maybe 40% of all X-ALD patients. The lucky ones (like me- so far at least) get the so-called “pure AMN,” impacting only the peripheral nerves and sparing the brain.
According to the experts, the first symptoms of AMN usually occur in the twenties. True to form, while I was always clumsy relative to my peers, I really took notice when I was about 27. My initial symptoms were mostly stiffness and a general lack of coordination.
 Think of myelin to nervous tissue, like insulation to wire. Without it the nerves become next to useless.
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Reblogged this on Survivors Blog Here Mental Health Collaborative and commented:
Here is the next installment of my road to disability. Twenty-five years on, it does not seem completely logical to me.