Communion Of Dreams

Machado-Joseph Disease: Livin’ outside the norms.

This is going to be a hard post to write. It might be a hard post to read. In part because I’m probably going to come across as a pompous ass to at least some extent. And in part because it’s not yet resolved, so I don’t know where the story goes from here.

But when I made the decision to start writing about this experience, I told myself that I would be honest about it, the same way I was honest about the care-giving experience, however painful or embarrassing it might be. I know that honesty has helped other care-givers; I hope this honesty helps people who may be facing a diagnosis of ataxia or some similar condition, or who have struggled to get the medical care they need.

Yesterday I had my long-awaited neurological assessment at the local large-institution university hospital which shall remain nameless. I’ve mostly avoided medical care within this institution in the 30 years I’ve lived here. Oh, they have a solid reputation, and do a great deal of good both for the community and for medical science. But I had worked for five years at the large-institution university hospital where I went to grad school, and knew all too well what “Big Medicine” is like. That experience taught me that whenever possible, I should stick with independent doctors/medical groups, where there was less chance that I would be treated as a medical file and more chance that I would be treated as a person with a medical concern.

However, with something as rare as Machado-Joseph, I wanted to tap into the best pool of talent/knowledge I could. And that meant at least starting with the local large-institution university hospital system.

The assessment started out well enough, though I felt poorly from lack of sleep the previous couple of nights. The Intern Doctor came in, introduced himself, went over my file info with me, confirmed that I had been referred by my primary care doctor for an assessment for MJD. He then asked me why I thought I was experiencing the onset of the disease. I started by saying that I was a conservator of rare books and documents, so tended to be hyper-aware of how my hands functioned. This didn’t seem to register as anything different than if I told him I mowed lawns or something for a living.

About five weeks ago I wrote this:

I’ve never really defined myself in terms of my job, but it has always been one of the interesting things about me. Conservators are so rare that it’s always a talking point when I introduce myself to someone; they always ask about what sorts of things I work on, what’s the oldest/rarest/most valuable item, et cetera. Even surgeons, who seldom suffer from a self-esteem deficit, will pause and with a note of respect ask how I got into such a profession.

So … well, I was surprised at his lack of reaction. I then told him that I had been a highly accomplished martial artist and athlete in my 20s & 30, with exceptional reflexes, sense of balance, and eye-hand coordination. Again, he took this in stride, as though I’d just told him I played Little League Softball. I explained that I’d always had a heightened awareness of my body, and invariably knew when there was something wrong with it. As an example I told him about my experience with detecting a subtle problem with my heart, finding out that I had a congenital defect, and having the stents put in … when almost no one else would have noticed a problem (and, in fact, nothing has shown up in routine physical exams). Again, he nodded, as though I told him I’d once diagnosed a hangnail. Then he shuffled his papers and said, “Well, let’s do some tests, shall we?’

He ran me through a bunch of tests, checking balance, reflexes, body sense perception, eye tracking, hearing perception, hand movements, and a variety of other things I was unfamiliar with. I was shocked at how poorly I did at a number of these, even being aware that I had been having problems with some of them for months. When we finished, we sat down again, he looked over his notes and then back at me and said, “well, almost all of your tests are within normal parameters, and the ones that aren’t aren’t *that* bad. Are you sure you’re having a problem?”

I must’ve looked like an idiot. Lord knows I felt like one, sitting there, mouth agape. When I finally shook off the shock, I said “well, yeah. I have these pains, frequent urination, these tremors, hand spasms, etc etc etc …” and I ran through the list. Again.

He frowned, looked over my information again. “Well, I see you drink a lot*. That can cause problems. I think we should run some labs, maybe do an MRI. We can also do the genetic test for MJD, if insurance approves that. But I don’t think you have a big problem. Let me go consult with my Attending Physician, see what he says.”

Time passed. I was … bewildered. I honestly had not expected things to go like this. What was so OBVIOUS to me in terms of my changing abilities (and which my wife has likewise noticed), seemed … normal? I felt a little stunned. Well, more than a little, to be honest. I felt completely adrift.

A tap on the door, then the Attending Physician entered, followed by the Intern. It was NOT the Attending Physician I had been expecting. Evidently, something had come up, so this other person was handling cases today. He introduced himself. He was polite, and going off what the intern had told him, he started out the same way, asking why I thought there was a problem. I said that I knew there was a problem with how my hands were functioning because I’d been a conservator for 30 years, and losing control of my tools suddenly was not normal. That got his attention. I also explained that with my family history of MJD, both my sister and uncle had experienced very similar onset symptoms, etc etc.

He said that he’d had experience with MJD patients at a hospital back East where there was a large Portuguese population, and asked if I knew there was a Portuguese connection in my family. (Machado-Joseph is also known as Azorean Disease due to the high frequency in that population … but it is well known to occur in unrelated populations around the world.) I told him not to my knowledge. He then said that I “didn’t have the look” of someone with MJD. Meaning, I suppose, that I didn’t have the narrow face and protuberant dark eyes that many people (including my aunt and cousin) have. But neither my sister nor my uncle have/had those characteristics.

But he said that they’d put in for the genetic test, and that they’d get me a prescription for a beta-blocker to help with the hand tremors. Oh, and he chided me for drinking 2-3 scotches each night. Told me to cut back to just one. With that, he was out the door.

The Intern sat down, started making notes on the computer. He explained that they wanted me to have my B-12 levels checked with a blood test, just to be on the safe side, and instructed me where to go in the hospital complex to get that done. He confirmed which pharmacy I wanted to use for the beta-blocker. And he told me that he was leaving at the end of the month (next week), but that someone else would be in touch if they saw a problem with my labs or needed info for the genetic test. Otherwise, I’d probably be sent info from the hospital about how to have the genetic test done, where, and when.

Then, politely, he showed us out.

We went over and got the blood draw done. My mind seemed to slowly be coming back online as we walked, parts and pieces of the whole session coming back to me and starting to integrate. I was discussing it with my wife, who confirmed my recollections and understanding of what we’d just been through. But I felt completely bewildered and full of self-doubt when we got home. I wrote my sister and a couple of close friends, explained briefly what had just transpired.

* * *

Last night I took extra pain meds, crashed early, and got a decent night’s sleep. This morning I woke to an email response from my sister. We’re close, and she is fiercely loyal & loving. The email was furious that I’d had the experience I’d had, at least in part because she had almost the exact same thing happen to her some fifteen years ago when she first started experiencing the onset of MJD.

After thinking it all through again this morning, and in writing this, I’ve set aside the self-doubt. I know what I’ve experienced. I may or may not have MJD, that will likely only be determined by the genetic test. But I know that my balance has been compromised, that I have been experiencing a wide range of symptoms that point at MJD onset. Perhaps it is a mild case (I think this is most likely) and hopefully will progress slowly. But even in the last six months since I first noticed the symptoms, things have gotten worse.

And this is why I decided to write about this at such length. Because if I, a very privileged, highly educated, white, middle class professional man can be subject to such dismissal of a medical complaint, then I can only imagine how others without such advantages must fight for proper care.

This will not come as news to many people who are less privileged, or who exist at the margins of our society. Actually, it wasn’t news to me, either. But I thought it might prompt others to perhaps give it another thought.

Jim Downey

* As noted a month or so ago:

I’ve also noticed an uptick in the amount of alcohol I’m drinking. Self-medicating, in other words. Again, this does tend to cycle, with some times of the year it being a little higher (2-3 double Scotches in the evening) and other times lower (just 1 double, occasionally 2). Years ago I stopped worrying about it, after discussing it with my doctor, because she observed that it was probably healthier for me than increasing my use of even mild opioids (the Tramadol and codeine), so long as I didn’t develop an alcohol problem.