Part 5: Diagnosis: Adrenomyeloneuropathy

Betty was a good sport, and a hard worker. Since I have never been able to consider complex answers to such simple questions, I was confident that she would come back with a straight forward plan of attack. Certainly, an explanation for what had been causing these annoying balance problems. More importantly, I expected an easy solution to remedy them.

True to form, within a couple of days or so, Betty reported back for the morning coffee break and a debriefing of her research efforts. My confidence in Betty remained high, as I anticipated the instant gratification that would surely come along with her findings. I poured us both a cup, sat back, relaxed in my chair as I prepared for the expected simple answers- Betty would have it all.

But as I would learn going forward, none of this could come so easily. Her main resource at NIH, her former boss, was not learned in this area. As it turns out, his area of interest was in a different kind of lipids, and how they related to heart disease. Nothing anywhere near the problem that I was fixated on. At first, I saw this as a miss. I quickly found myself back where I began- nowhere.

Betty was not done though, and I am certainly glad that I did not follow my normal rule of interrupting and changing the subject when conversations veer away from the direction that I preferred. Betty was good. Unlike me, she remained composed and despite my obvious disappointment, continued reporting her findings.

Somehow, Betty’s old boss knew enough about X-ALD to tell me that I needed to speak to Hugo Moser, MD, at the Kennedy-Krieger Institute, in Baltimore. It was less than an hour away and I am not shy. I immediately rang him up and we chatted quite a bit. Clearly, I had no idea where this might go, so why worry? Ignorance is excellent. My only background was a vague recollection of the film “Lorenzo’s Oil.” I may have known that it was a story about a sick kid who was cured by a miracle. Really not my thing. Nonetheless, turns out that Dr. Moser was the villain in that story. So, I guess I knew something, just not anything very useful.

After a few minutes, I soon realized that he was likely not too evil. That and that the major adult phenotype of X-ALD is adrenomyeloneuropathy (AMN). He also had an outrageous accent. We agreed that I should plan a field trip to Baltimore.

Somebody must have led me into Dr. Moser’s office to wait. Not that this is a real important detail, but it sort of was. And here is why: I was sitting when he arrived; he did not see me walk in. Dr. Moser took one look at me and said something along the lines of: “I don’t think that you have (or was it: you DO NOT have) the disease, but let’s take the blood test and find out for sure.” Then he invited me to come look at the laboratory.

As soon as he saw me get up and walk, his tone changed, majorly. I was in trouble- something was pretty wrong. I was commandeered by anxiety and a sort of fog swallowed me. There was blood drawn, but that is about all that I remember.

This week of waiting was suboptimal. Miscellaneous scenarios shot through my mind, not many of them good. I came clean with mom, I thought for whatever reason, she could handle it. I was reluctant to tell dad. The test was negative, and I had no reason to bring him panic.

A week later, Dr. Moser called: “it is positive,” is all I remember him saying. I later learned that Dr. Moser’s initial impression that I would test negative might have been because I had a decent head of hair. True enough, it seems that everyone I have seen with AMN is bald. One guy I knew, Michael Alm even observed that AMN patients’ legs are hairless. Come to think of it, my legs are not quite as furry as they once were. Anyway, I am told that AMN likes to attack hair follicles.