Machado-Joseph Disease: bitch, bitch, bitch

Machado-Joseph Disease: bitch, bitch, bitch

May 15, 2022, 2:43 pm
Filed under: Book Conservation, Connections, Feedback, General Musings, Health, Humor, Machado-Joseph, Science | Tags: arthritis, ataxia, balance, blogging, bookbinding, dystonia, fasciculation, health, jim downey, Machado-Joseph Disease, medicine, MJD, neurology, neuromuscular disease, pain, peripheral neuropathy, Reddit, restless leg syndrome, RLS, SCA3, science, sleep, spinocerebellar ataxia type 3, Tramadol, vertigo, Wikipedia

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

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