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.



Machado-Joseph Disease: bitch, bitch, bitch

OK, this is going to sound like I’m complaining. And I am, to the extent that if this wasn’t bothering me I wouldn’t write about it. But I’m mostly writing about it as documentation: documentation for when I get the neurological assessment in a week, documentation for how things are now as a baseline to compare in the future, and documentation for anyone who wonders what this weird and rare disease is like. The truth is, presently all these elements are mostly just annoying rather than being really painful or debilitating. I’ve been so sick that I can’t get out of bed, and this ain’t it. I’ve been in significant pain where I can’t think of anything other than hurting and trying to make it stop; this ain’t that, either.

A lot of people have experienced Restless Leg Syndrome, a fairly common minor neurological disorder that isn’t very well understood. For me, it comes with a kind of itch or burning sensation, mostly on the surface of my lower legs and feet, that just makes me want to move them to avoid an unseen irritant. Now, this is one of the earliest symptoms I can point to, and it goes back at least six or seven years. Was it an indication of MJD onset, or just due to something else? Who knows. I will say that it has become more noticeable in the last few months, and now happens every day or two.

It’s also, weirdly, spread to my arms. Yeah. Exact same kinds of sensations, mostly confined to my forearms and the area around my elbows. I’ve never heard of this before, but one of the sites I checked about RLS mentions it happening to some people. I guess I qualify.

Something that is kinda like RLS, but is more intense, is a sharp, spike-like pain. It really does feel like I just stepped on a nail protruding from a plank. A nice, rough & rusty one like the one I remember as a kid, going through some dilapidated old house, that went through the sole of my tennis shoe, through my foot, and then out the top. Graphic memory, eh? Yup. And that was the exact same kind of pain I get with these spikes. These are usually a one-off, can happen to either foot, ankle or calf, or in my hands. I’ve joked with my wife that it’s just memories of my crucifixion as a rebellious slave. These are kinda rare, occurring a couple of times a week.

More common are unexpected cramps in the foot, leg, or hands. These are classic “Charlie Horse” type, and just about anyone who has over-exerted themselves at some point has experienced them. One of these happen every couple of days, and can be so intense that it leaves my affected muscle aching the next day or two. I’ve got a couple of sore feet right now due to this (one the bottom of the foot from last night, one the side of the ankle from a couple of days ago). This can also be triggered by using my hands in a repeated motion, like I do when doing book conservation. Or typing.

Related, but not as intense, is a “tightening” of the muscles/ligaments on the back of my hand or top of my feet. Makes it feel like it’s pulling my hands back towards my forearm or my feet towards my shins. Usually happens to both hands or both feet at the same time. Not really painful, just weird.

Then there are the twitches. Like a tic, or a spasm. These tend to come in clusters, lasting for a few minutes at a time, and usually just hit one hand or the other. Again, not particularly painful, but an annoying reminder that my body is not entirely under my conscious control.

I’d mentioned recently the problems with balance. Random vertigo happens rarely, but balance problem are one of the more consistent symptoms I’ve noticed. It happens when it’s dark and I don’t have a visual reference to help stabilize. It also happens if I’m moving and turn my head quickly. Or if I twist to look up and behind me.

Another frequent symptom I experience I didn’t actually know was a symptom of MJD: frequent urination. Yeah, overactive bladder. This one I’ve had for a decade or more, though I attributed it to my blood pressure meds. Maybe that was the case, but it has definitely increased in recent months, to the point where just about whenever I get up from sitting I want to pee. TMI? Sorry.

While each of these are fairly minor, together they usually conspire to do one of the things that most people who have MJD complain about: sleep disruption. Yeah, it’s hard for me these days to actually sleep solidly more than about four hours. Typically I take my usual pain meds (for chronic problems) and crash, then wake about four hours later to have a pee and take the next round of pain meds. In the past I’d usually be able to get fairly soundly back to sleep quickly, and sleep another three or four hours. Now, almost always one or more of the above symptoms will either stop me from getting back to sleep, or wake me frequently for the next couple of hours. At best, I doze in a light and fitful sleep.

So, there we go: a nice summary of where things stand for me.

Of course, that’s the physiological stuff, not the psychological stuff. Because yeah, there are stresses involved with this disease. Knowing what it can do. Knowing what it means. Knowing that there is no cure, and only limited treatments that have been proven effective. Knowing that it is rare to the point of almost being unknown by those outside a few medical specialties and the other families that have the genetic disorder. I was startled the other day when I was on Reddit (a huge online community/news site) looking for something else, and thought to see what kind of support groups exist for people with MJD. There aren’t any. None.

But then, the best estimates are that only about 3-5,000 people in the US have MJD. About one person in a hundred thousand. I’m guessing that I won’t be able to find a local support group, either.

So, thanks for being there, dear reader.

Jim Downey



To sleep, perchance to clear amyloid plaques.*

Interesting. They may have found the reason that animals sleep: in order to flush the brain of toxins which build up during waking hours.

And more importantly, this may also be part of the explanation for Alzheimer’s and other age-related dementia. From the NPR article linked above:

The brain-cleaning process has been observed in rats and baboons, but not yet in humans, Nedergaard says. Even so, it could offer a new way of understanding human brain diseases including Alzheimer’s. That’s because one of the waste products removed from the brain during sleep is beta amyloid, the substance that forms sticky plaques associated with the disease.

That’s probably not a coincidence, Nedergaard says. “Isn’t it interesting that Alzheimer’s and all other diseases associated with dementia, they are linked to sleep disorders,” she says.

Researchers who study Alzheimer’s say Nedergaard’s research could help explain a number of recent findings related to sleep. One of these involves how sleep affects levels of beta amyloid, says , a professor of neurology Washington University in St. Louis who wasn’t involved in the study.

Perhaps it is time for a nap …

 

Jim Downey

*With apologies to Mr. Shakespeare.