Communion Of Dreams


Machado-Joseph Disease: Home, sweet home.

Yesterday I spent the most I’ve ever spent on a glass of water. And I couldn’t be happier about it.

See, my wife had a business function at a conference center at the Lake of the Ozarks. She’s retired, but still somewhat active with the AIA in a volunteer/mentor capacity. We drove down, checked into the hotel, dropped off our bags, and changed to go to a reception we thought also included dinner, awards presentations, and a full evening. I had a glass of water to take my routine evening meds, and we went off in search of the reception.

All went fine, but it quickly became clear that our expectations for the evening were somewhat at odds with what was actually planned. This was the first time this particular event was being held post-Covid, and contrary to the pre-pandemic routine (we’ve attended a number of these events), there was just a reception and brief awards ceremony. It was good that we were there, since my wife is a previous recipient of the same big award, and she was happy to support the new recipients. It was also important for her to be recognized for her past work on behalf of the profession.

But it was all over by 7:00 PM.

Now, since it was just an informal reception, we’d all be standing around chatting (and then listening to the presentations) for a couple of hours. A couple of hours during which some of my MJD symptoms made it abundantly clear just how much had changed for me since the last time I’d attended such a function (pre-Covid). I wasn’t miserable, but I was painfully aware of just how fragile I was feeling (as noted recently). Just being around people was work — even moreso than my usual introvert reaction to such events.

So, as we walked back to the room from the reception, we talked about just checking out and heading home. In just 90 minutes we’d be back in our refuge, I could sleep in my own bed and get back to my usual routine. It meant forfeiting the room cost, though.

I decided it was worth it. One of the lessons I’ve learned in my life is that sometimes you just have to write off the sunk costs of a decision, and get on with things.

So we changed again in the room, gathered up our things, and left. Got home safe & sound, played with the cats, crashed. I slept well (which I never do at a hotel), and this morning was able to get in my usual sunrise walk and exercise routine.

This wasn’t entirely due to MJD, of course. Partially it was due to the weird almost-over-but-not-really pandemic reality we’re still adjusting to. My ‘extrovert batteries’ aren’t what they once were, due to lack of use. And there was a breakdown in communications as to what was happening, so our expectations were at odds with what actually happened. Had we known that the event was going to be over so quickly, we would just have planned all along to return home after it was over.

But I do have to say that the changes I have experienced due to MJD were a major factor. None of my symptoms were noticeable to anyone else, and we didn’t discuss it with anyone. Yet I felt it, and it took a toll.

Lesson learned, and adjustments made.

Jim Downey



Machado-Joseph Disease: Management trainee.

This morning I picked up my monthly meds. Basically, the same set I have been taking for almost a decade.

And as I was going through and organizing things, I realized something interesting: I’m taking *way* less of my opioids (Tramadol and Tylenol #3) now, thanks to my Medical Marijuana.

The growing MJD symptoms had started cutting into my small reserve of the opioids which had been more or less stable for years. I mentioned this in one of my first posts about MJD:

But of course, being aware of — even moreso paying attention to — more pain is, well, painful. Distracting. Annoying. So in terms of my perception, my ambient pain levels have gone up significantly in the last few weeks. I noticed recently that my use of my prescription pain meds (Tramadol, Tylenol 3 with codeine) that I’ve been on for about a decade for an intercostal tear has ticked up recently. Now, that happens, particularly when I am doing some strenuous exercise/project. There’s a sort-of natural ebb & flow to it through the year, with some months being a little higher usage, some being a little lower usage. But since we finished installing a new stamped copper ceiling in the kitchen, I haven’t been engaged in anything very physically demanding. That was six weeks ago, and I should have reverted to something closer to baseline. I haven’t.

By the time I got my MMJ card two months ago, I had pretty much used up the small reserve I had. That was a little nervous-making, since I really didn’t want to increase either the power or amount of opioids I took.

Well, in just two months of having access to MMJ, and about a month of understanding how I can best use it for my needs, things have changed. A lot. Like, I’m now taking half the amount of opioids I was (same for alcohol intake). In this short time I have already replenished my reserve. I could probably cut that further, but I’m still just using the MMJ products in the evening (very mild dosages) and overnight (mild dosages).

This disease, and the version I have, is progressive. With luck, however, I should be able to manage the symptoms, and particularly the annoying pain issues, without increasing my intake of opioids for a while. We’ll see — it’s all about learning how to manage things.

Jim Downey



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



Machado-Joseph Disease: unseen

“You seem to be in pretty good shape.”

I knew what he meant. He’s known me for about 50 years, and had seen my aunt, who I went to live with after the death of my parents, deteriorate and eventually die from what was then an unnamed disease.

* * *

There are a lot of chronic diseases that have little or no visible symptoms, but yet can have the people suffering from those diseases in agony, or unable to do routine things, or seemingly drunk/stoned. Enough so that the ‘hidden disease’ story is a trope unto itself. A lot of people who try and explain what it is like have such a disease write about what it is like to have such an invisible illness or injury. And I guess this is mine.

Now, I’m not unfamiliar with this experience. As I’ve written about, I have chronic pain from a number of old injuries, the most annoying of which has been the intercostal tear I’ve had for about a decade. There’s no obvious injury, but the pain wears me down, and limits how much energy I have for social gatherings (which usually happen in the evenings) and such. When I decide that there’s something I want to do with others, it’s mostly a matter of grin and bear it until the festivities are over, then I can take the extra meds and go fall down. My extrovert batteries and pain tolerance usually get me through such occasions with no one the wiser.

But, for me at least, there’s something different about dealing with chronic pain and having an invisible (for now) illness like MJD. Perhaps that distinction doesn’t make much sense to most people. But while I know that chronic pain brings with it a whole lot of related effects, there’s a different psychological aspect to having an incurable illness.

An anecdote from some years back may explain …

At some social event, I was chatting with an M.D. I knew reasonably well, but only on a social basis. That is, they weren’t my doctor, and there was almost no chance that I would ever see them on a professional basis. And as I said, we knew one another reasonably well. Enough so that at some point the subject of MJD running in my family came up for discussion.

My friend, upon hearing this, paused, and did a mental search. He finally found the memory he was looking for, and with brows furrowed asked me, “the neuromuscular disease that’s like Huntington’s?”

“That’s right.”

The furrowed brow changed to a bare look of disgust. “Oh, that’s … nasty.”

* * *

These days, cancer has little or no stigma. But there was a time not that long ago when it did. It was spoken of in hushed tones. Doctors often would never give a patient an honest diagnosis that included the word cancer, instead using some bullshit medical equivalent. It was that feared, because it was almost uniformly incurable and the treatments for symptoms brutal. It was basically a death sentence, and one that likely meant a prolonged and painful end.

It may be hard to believe, but I remember those days. Very clearly.

And for those who know what it is, MJD engenders something of that same reaction. I’ve seen that response in the faces & behavior of people countless times. For understandable reasons: the disease is progressive, there is no cure, and treatments are fairly marginal.

* * *

“You seem to be in pretty good shape.”

I knew what he meant. He’s known me for about 50 years, and had seen my aunt, who I went to live with after the death of my parents, deteriorate and eventually die from what was then an unnamed disease.

I had expected this. In fact, I was already used to dealing with that reaction from people. Used to explaining that this news didn’t quite mean what it would reasonably be understood to mean. Particularly by those who had seen it themselves.

I nodded. And I transferred my fork from my left hand to my right, because my left hand was spasming a little, though it wasn’t noticeable. I poked a forkful of salad, raised it to eat. “Yeah, I am. For probably the foreseeable future it will mostly be a matter of managing the symptoms to the best degree possible. I’ll know more about that when I get the full workup and genetic test results, and we start trying therapies.”

My friend looked relieved, happy for me. “Good.”

We had a pleasant lunch, and a good long catch-up after. When he left, I took my pain meds, poured a drink, and thought about what the future held.

Jim Downey



Machado-Joseph Disease: Management

One of the things people with MJD have found helpful is Medical Marijuana (MMJ). It helps to moderate pain, but more importantly, some of the available strains really make a difference in allowing people with the disease to sleep through the night.

See, one of the problems with MJD is that the twitching, cramping, and pain in the hands, feet, and legs is such that it disrupts sleep. This is something that I noticed particularly in the last few months, as my symptoms started developing, and I have a long way to go before it becomes diagnosable dystonia. So of course, anything that might help me sleep better is of interest. Because the key to dealing with this disease, since there is no cure, is to manage the symptoms to the greatest degree possible. That will allow me to make the best use of my functional time each day, and get the most enjoyment out of living.

And if MMJ will allow me to do that, then I’m game. So I’ve started looking into it. The problem is that it’s damned hard to separate out the quack “MMJ can cure EVERYTHING!” stuff from real, rigorous research. Of course, the demonization of all forms of cannabis by our government over the last half century hasn’t helped. Since it is still a “Schedule I” drug as far as the federal government is concerned, there are real limitations on what kind of science can be conducted on medical applications, which just opens the door to all kinds of outlandish claims. I swear, it’s like the ‘Snake Oil’ era of patent medicine, or the insane hype that went along with radium and other radioactive quackery early last century.

There’s no rush, since I’m not going to see about getting a MMJ card (available here in Missouri) before I have a definite diagnosis, though just on the basis of my chronic pain alone I could qualify. And for the time being I can just rely on the meds I already have (opioids, OTC stuff, booze). But I have been trying to educate myself from what trustworthy sources actually are available. Which, to be quite honest, is enough to drive one to drink.

Ironic, eh?

Jim Downey



Machado-Joseph Disease: Telling.

4/11

Got together with my sister and her husband yesterday. After the usual catching-up (we only see each other in person a few times a year, since we live a couple hours apart), I told them about my conclusion that I have MJD. Since she has managed the disease for 15+ years, they know full well what the implications of my conclusion are. But my sister and I are a lot alike, and I knew that she would step back, digest the information, then engage with it rationally.

She did exactly that. Then the four of us (my wife Martha was with me) had a good conversation about the disease, what symptoms I had been experiencing, and where things go from here. Both my sister and brother-in-law were able to provide some very good suggestions and observations, offering advice and support based on their lived experience that will be invaluable to me and Martha going forward.

* * *

This morning I started letting close friends know about my conclusions, though email and Facebook personal messages. While ideally I would have preferred to tell them in person, that wasn’t practical. And besides, presenting the information in writing allowed me to shape the impact it would have (I am, after all, a fairly competent writer). This is the template I used, personalizing it some for different individuals:

Hey —.

You may have noticed that recently I’ve talked about my pain levels (particularly in my hands) being more problematic. Well, there’s a reason for that, which will become something I’ll be discussing publicly in the future: it seems I have the onset of Machado Joseph Disease. But I wanted to let my close friends know before I said anything for public consumption.

This is so far my own assessment, but I’m about 95% confident in it based on symptoms over the last six months or so, combined with family history. I’ve got an appt at the end of May with a local MU neurologist who has experience with ataxias, and will get the genetic test and full evaluation then. But there’s almost no doubt that I have it, probably with the initial onset about 3-4 years ago.

Believe it or not, I’m OK with this knowledge. I’ve always known that it was a possibility, and basically I consider myself lucky that it waited to show up until I was ~60. I know what to expect, the medical knowledge of it is much better than things were 15 years ago when my sister had onset, and her experience with it has taught her some coping skills and treatment options that will help me. It’s not good news, but the later the disease manifests, the slower it usually progresses. In many ways, this won’t be that much different than what most people experience with normal aging — in fact, I had ignored the signs of it for so long largely because I just thought it WAS normal aging.

So, there we go. Don’t feel obligated to get philosophical in responding; I wouldn’t have told you now if I didn’t know that you already care and “are there for me” in friendship.

Take care.

It’s interesting to me that the process of composing that message helped to clarify my own thinking and perspective, just as these blog entries have done. At heart, I’m a writer. And writing requires clear vision of the subject at hand, pushing me to analyze not just the facts, but also my emotional reaction to those facts.

* * *

4/12-13

Responses to the above have been interesting, and pretty much what I was shooting for. My friends/family have been supportive but not maudlin, mostly just acknowledging the news and wishing me good luck.

Of course, the text I sent out is a “best case” take on the possible paths this journey can take from here. I figured it was better to give people a heads-up, to let them start to adjust to this news. What I find out when I get the genetic test results back, combined with the assessment from the neurologist, will give me a better idea of what to actually expect. But I didn’t see the point in going more negative with my portrayal, since it is possible that will not be the case. No reason to make people more concerned than necessary at this juncture. If I need to share bad news later, I’ll deal with that, then.

Besides, I have enough to be worried about myself, without having to also deal with the worries of others. Because while I “am at peace with this news”, I am somewhat concerned by the seeming speed of the progression. But I am also aware that said speed is perceptual — going from perceiving no evidence of MJD to what I now perceive is different from the reality that the disease likely began three or four years ago, and hence I am experiencing it at this stage of progress. In other words, I’m likely three to four years into this, but just now aware of that.

For example: now that I am aware of what is going on, I recognize that I have near-constant pain in my hands and feet, and frequent pain in my lower legs. Previously, I would have just noted the pain, attributed it to other things, and then tuned it out to whatever degree possible. Because in my mind, in my perception, it “wasn’t a problem”. Now that it IS a problem, I’m paying more attention to it.

This isn’t a bad thing, per se. It’s important that I catalog the reality of what I am experiencing so that I can give an accurate assessment to the neurologist. So there’s that. It’s also important to pay attention to pain, because it is instructive, at a very basic level of survival. Don’t think so? Then just do a search for reports of what happens to people who for some reason are incapable of feeling pain. Bottom line: it ain’t pretty.

But of course, being aware of — even moreso paying attention to — more pain is, well, painful. Distracting. Annoying. So in terms of my perception, my ambient pain levels have gone up significantly in the last few weeks. I noticed recently that my use of my prescription pain meds (Tramadol, Tylenol 3 with codeine) that I’ve been on for about a decade for an intercostal tear has ticked up recently. Now, that happens, particularly when I am doing some strenuous exercise/project. There’s a sort-of natural ebb & flow to it through the year, with some months being a little higher usage, some being a little lower usage. But since we finished installing a new stamped copper ceiling in the kitchen, I haven’t been engaged in anything very physically demanding. That was six weeks ago, and I should have reverted to something closer to baseline. I haven’t.

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.

But having both things happen simultaneously is an indication that my body has been seeking more relief from pain. Again, this does happen sometimes, if I undertake some particularly aggressive exercise project. But I haven’t. Instead, it’s probably because I’ve been more aware of the pain related to MJD.

Jim Downey



Machado-Joseph Disease: Adjustment.

[I’ve decided to be public about my realization that I have the onset of MJD, the diagnosis process, and then living with the disease. Given the rarity of this disease, my hope is that this series of blog posts will help educate others, and perhaps provide some insight into it and related conditions. This is the third post in the series, written about a week after the second, as I started reframe what this would mean for me going forward.]

Been an interesting week, as I have been adjusting to the new normal of having MJD (as noted in my previous post, this is now where my head is at, though I won’t have an official diagnosis for about two months yet). It’s mostly been a process of re-calibrating my body awareness: noting that I have these muscle spasms in hands, feet, and legs, that the pain levels are there, and so forth, and then just moving on with my day. Living with chronic pain from a torn intercostal muscle that’s never healed properly, along with the random aches & pains of various abuses I’ve subjected my body to over the years of living life fully, means that to a certain extent the new aches & pains associated with MJD are just more of the same.

That’s not to discount the disease, nor the pain that comes with it. That’s real. And it has an impact. More pain, even if it isn’t worse pain, takes a toll. It wears me down faster. It’s more distracting, so it makes it harder to focus on any given task, especially creative ones. For the most part, though, I can just acknowledge the pain, listen to what it is telling me, account for it, and then get on with whatever I’m trying to do. So the pain isn’t the problem.

What is the problem is the degree to which this interferes with my bookbinding/conservation work. I’d been attributing the aches and pains in my hands to arthritis for years, and in truth I actually do have arthritis in some of the joints in my hands. That’s the result of the trauma inflicted by martial arts (primarily SCA combat) for about a 15 year period when I was a young man.

But worse than the aches and pains is the stiffness, spasming, and occasional loss of control in my hands. So far, the latter has only happened after I have been working using my hands (specifically while putting up the stamped copper ceiling in the kitchen this past winter). But I know it is just a taste of things to come. Dystonia is a classic symptom of MJD, and the spasms and pain in my hands that I’ve noticed the last few years is only likely to get worse and become more of a limitation. I had already started to scale back the conservation work I do, but now I need to be thinking in terms of finishing up pending obligations, handing off clients to other conservators, and becoming officially ‘retired’ as a book conservator. That’ll be a hard adjustment to make, since so much of my self-identity is tied up with it.

* * *

(a few days later… 4/7)

Something I’ve been thinking more about is the difference in the types of pain I’ve been feeling. This is distinctly muscle pain, as opposed to the kind of pain one has from arthritic damage to a joint, or tendon damage, or a broken/bruised bone. This is the kind of thing pretty much everyone has experienced at one time or another, from over-using a muscle (or a group of muscles). It feels almost exactly like what you experience the day after a really hard physical exertion, except it also feels a bit like what you experience shortly after exhausting the muscle in exercise. Think how your calves/feet feel after a five mile hike in street shoes: tired, twitching, and sore. Then add in how your calves would feel the next day, in terms of stiffness and that deep ache. It’s unusual in my experience to have both of those at the same time, but that’s pretty much what my hands and feet/legs feel when I’m having an episode of the MJD effects.

And that’s another thing: this isn’t constant. Not yet, anyway, for me. It’s episodic, lasting for a few hours, at most a day or so. Then it fades for a while. I haven’t yet been able to identify a pattern to the episodes, unlike my intercostal tear (which usually acts up in response to a change in barometric pressure or certain kinds of exertion). It’s possible that there isn’t one, and no way to predict what might trigger an episode. I suspect that may be the case, given that the episodes typically become longer and more frequent over time, until the pain is pretty much constant.

I’m sure I’ll find out. *sigh*

* * *

4/8

Bad episode today. Spasms, twitches, RLS (Restless Leg Syndrome), and a fair amount of muscle pain. Particularly in my hands. Possibly a connection to the cold front (we’ve had spitting snow and wind today, with a hard freeze forecast for tonight)? Whatever, been a rather annoying day. Particularly so since I had been planning on getting some binding work done, and my hands are just in no shape for it, even with having had them in the microwaveable mitts I use to loosen things up.

As I noted above, this is a psychological blow, as much as anything. 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.

I’ll miss that. And I’m honest enough to admit it.

Jim Downey



Machado-Joseph Disease: Acceptance

[I’ve decided to be public about my realization that I have the onset of MJD, the diagnosis process, and then living with the disease. Given the rarity of this disease, my hope is that this series of blog posts will help educate others, and perhaps provide some insight into it and related conditions. This is the second post in the series, written a few days after the first, as I started to come to terms with the realization.]

According to the “stages of grief” I should probably be still somewhere around either denial or anger, in reaction to the realization that I am experiencing the onset of MJD. But I’m not.

I’m not some exceptionally well-adjusted person or anything. (Well, OK, I am, but it’s taken me 60 years and working through a lot of personal trauma to get to this point.) Rather, I think that’s mostly due to the fact that I’m not really ‘grieving’ the loss of my good health or anything. In the short term, this is mostly one additional annoyance of aging that I’ll deal with. I’ve already been living with chronic pain for more than a decade, and going through the cardiac catheterization six years ago was educational in terms of forcing me to re-adjust my perception of myself as eternally young. Yeah, that whole thing actually turned out to be a great benefit for me, correcting a previously unknown heart defect, but it was still a moment when I thought that I had a serious heart condition that would end my life sooner rather than later.

So I’ve been through the experience of reframing my expectation of ‘good health’. And I’ve found it relatively easy to accept that there’s about a 99% likelihood that I have MJD.

I realized this when I was talking with the scheduling nurse from the Neurology Clinic, setting up an appointment for my initial assessment with one of the attending physicians who has an expertise in neuromuscular disorders and ataxia. She said that when the staff saw my family history of the disease (from my medical referral) it was obvious who I needed to see and why. I don’t want it to sound like she shocked me, or let the cat out of the bag — it was I who initiated that aspect of the discussion. She just confirmed it. At that point I went from being reasonably sure what my symptoms meant to being all but certain.

And I found that I was at peace with that.

Jim Downey



Machado-Joseph Disease: Realization

[I’ve decided to be public about my realization that I have the onset of MJD, the diagnosis process, and then living with the disease. Given the rarity of this disease, my hope is that this series of blog posts will help educate others, and perhaps provide some insight into it and related conditions. This is the first post in the series, as I started to come to terms with the realization.]

3/13

I’ve known this disease for almost 50 years. From well before my family even had a name for it. I’ve seen it kill family members by millimeters, and do its best to ruin the life of my sister over the last 15 years.

So, why did it take me so long to recognize that I have it?

* * *

Denial, perhaps. This is not the sort of future one particularly wants to face.

Or perhaps a sense of entitlement? That I have had enough other pain and suffering in my life, that I deserved to be missed by this curse?

Or maybe a lingering perception of invulnerability? It’s said that none of us can really envision our own mortality until it steps out of the shadows and confronts us face to face.

All of the above.

What I know is that I first experienced tremors & cramping in my hands several years ago. The stiffness and ache I had felt I attributed to osteoarthritis — I had abused my hands considerably during my years of jujitsu and SCA combat, after all. At first, I just figured that the tremors and cramping were due to the same.

Except arthritis doesn’t cause tremors and cramping. Some part of me knew this, but discarded the information.

The same was true of the foot/leg cramping, the RLS (restless leg syndrome). I figured it was due to walking. Or climbing ladders. Or digging through turf. Or just ‘one of those things’.

All plausible explanations.

Because some part of me didn’t want to acknowledge the possibility of MJD/SCA3 (spinocerebellar ataxia type 3). As noted, this is not the sort of future one particularly wants to face. Depending on the age of onset and some other factors, MJD can mean anything from almost total debilitation and an early death to prolonged suffering and loss of bodily control. And we’ve seen the full range in my family. Not the sort of thing one wants to particularly acknowledge, since there is no cure and precious little in the way of medical treatment for the symptoms.

What was harder for me to ignore were the moments when I lost my sense of balance. My formerly exceptional sense of balance; graceful, fluid motions on the field of combat or the practice mats of a dojo. Gone now. Oh, routine walking is still perfectly fine. But when I turn my head quickly, or close my eyes while still moving, things will spin/sway/shift for just a moment. That never happened before. Well, unless I got drunk. Because that’s pretty much exactly what it feels like.

And then recently, I started just dropping things. Particularly tools, when I was tired from using them after a couple of hours. My hands would just stop working for a moment, and the item would slip from my grasp.

Now, I can be as clumsy as the next person in just routine day-to-day stuff. But when I’m working with tools, my focus, my control, is exquisite. It has to be, in order to be a book conservator, as I have been for thirty years. I don’t just start losing control of my tools. Let alone dropping them.

But I have.

* * *

Just before New Years we got together with my sister and her family. We’d had visits during the pandemic, but they had been brief, sometimes outside, more superficial. For whatever reason, as we were talking about how she was doing in her struggle with MJD, we got a little deeper into the details than usual. And as we talked about her symptoms, it was like a checklist formed in the back of my mind.

A checklist of symptoms. A checklist with each box ticked.

I realized that it was possible that I had been experiencing the onset of MJD. I scheduled an appointment to see my GP, far enough out in the future that I figured that the Omicron surge would be past, and it would be relatively safe to talk with her.

I didn’t put it out of my mind — how the hell could I? — but I was able to convince myself that it made the most sense to just wait and see my doc, and likely then see a neurologist after. Because MJD is rare enough (like 0.005% of the population rare) that my GP had zero knowledge of it, as I knew from previous discussions with her about family medical history. But I did start paying closer attention to that checklist. And I did some more reading on the latest research and medical information about MJD. It turned out that there had been a LOT of additional research and publications, and the disease was now much better understood than the last time I had dived into the literature some five or six years ago.

After digesting that, I was reasonably certain that yes, I had the onset of the disease. I shared those thoughts with my wife and a couple of very close friends I knew I could trust to not freak out or over-react. I still wanted to wait and see my doc, then a neurologist, and get the results of the genetic test that would confirm whether I had the disease, and to what likely degree, before I said anything to my family or other friends.

* * *

Last Tuesday (the beginning of March, 2022) I saw my doctor. It went as I expected, with me explaining my suspicions and how they matched the symptoms of the disease. What I didn’t expect, as we discussed it, was that her questions about the disease sharpened and confirmed those suspicions. She agreed with my analysis completely, and I left the appointment convinced that I have MJD, and that I had likely experienced the first onset three or four years ago.

I’m still waiting to get an appointment with a local neurologist (through a referral from my GP’s office for insurance purposes), though that will probably happen in the next week or so. Everything above is what’s been playing out in my head as rehearsed dialogue for that meeting. Time and time again.

So I thought I would write it down. Like being a care-giver, it helps me to process and understand what I am going through. Perhaps I will make it public. Perhaps it will grow into something like Her Final Year, as a way for me to share my perspective and help others who experience ataxia or have someone in their life who does. We’ll see.

For now, I will keep these thoughts to myself. But will update as seems useful.

* * *

3/16

Today it was a week since I was told by my GP’s office that they had sent over a referral to the local university Neurology Clinic, where they actually have at least one person on staff who is familiar with ataxias. (I went and looked at the public profile info about the staff on their website).

Since I wasn’t quite sure how the University referral/scheduling system actually works, I called the Neuro Clinic, and chatted with the nurse who answered the phone. Yes, I can be funny and charming if necessary. Looks like my case is already in discussion with the docs there, and I should hear from someone soonish about actually getting in to get an appointment/evaluation. The nurse I spoke with said that the process usually takes a month or longer, and that it has happened in just a week means that it’s on a fast track. Looks like I’m special. Woo-hoo — lucky me!

* * *

3/18

Haven’t heard from the Neuro Clinic yet — hadn’t really expected to, but still …

I’m used to chronic pain. From the joints I’ve abused, from the intercostal tear in my side that I’ve had for a decade+, from the ache of bones broken in a full and vigorous life.

So the extra pain in my hands and feet isn’t really a change. And it’s not like the pain is any more intense or distracting. But it is a change. Like using a larger hose to fill a pool; the volume of pain has increased. It fills me up faster, reduces the energy/attention that I have for other things.

It’s like being out of shape, and discovering that you just can’t run as far or as fast as you used to be able to. It catches you a bit by surprise, and there’s a part of you that just wants to deny that something so fundamental has changed.

I told a friend (one of the very few who knows about this) that I’m currently uncertain whether or not I’ll put a garden in this year. It’ll depend on what I find from connecting with the doctors. Oh, I’m sure that I *could* put in a garden, but how much would that take away from other things I want to accomplish through the summer & fall? I’m being a little more cautious about how I commit myself, not knowing what resources I’ll have available.

So I hope the scheduling nurse from the Neuro Clinic calls next week.

Jim Downey