Communion Of Dreams


Machado-Joseph Disease: testing time

So, late Wednesday FedEx delivered this:

That’s the sample collection kit for the MJD genetic test.

The paperwork included indicated that I could just take it to a local Quest Diagnostics and they would do the blood draw and send the samples off. I made an appointment for the next morning, and did just that. That done, now we just wait for the results. Ideally, I’ll get a copy of the results (I’ve formally requested one, and they should comply, since that’s part of the HIPPA guidelines) and not even have to meet with the Neurologists at the local large-institution university hospital which shall remain nameless. About the very last thing I want to do is deal with those people again. Yes, that experience has continued to annoy me.

And on that point, on one of my recent morning walks (I walk ~3 miles most mornings), I found myself walking with a couple of neighbors for part of the time. They were chatting about healthcare for another neighbor who was recently injured, and the conversation turned to the local large-institution university hospital which shall remain nameless. I mentioned that I’d recently had to deal with the Neurology Clinic there, and they both exclaimed words to this effect: “Oh, Jim, why the hell did you do that to yourself?!?!”

Yeah, the local large-institution university hospital which shall remain nameless has a bit of an image/reputation problem with the locals.

* * *

Late last week I also received my state Medical Marijuana card. I decided to apply for it, as part of my decision to be more active in managing my symptoms, whether they’re due to MJD or something else. Approval was all but certain, since on the ‘chronic pain’ criteria alone I qualified, having been on mild opioids for 10+ years. As I mentioned in one of my early posts about MJD, I’d noticed a persistent uptick in my use of my Rx pain meds (rather than just the occasional up and down variation I see over the months), particularly to aid in sleeping. Symptoms like Restless Leg/Arm Syndrome tend to disrupt my sleep in the early morning hours, contributing to spiraling problems associated with lack of sleep.

So I wanted something to help me sleep, without increasing my use of opioids or getting into a cycle of taking additional Rx meds. Many of my friends who deal with chronic pain has found MMJ (Medical MariJuana) to be efficacious in dealing with sleep problems, so I figured it was worth a try.

Let me tell you, there’s nothing like going to a medical cannabis dispensary for the first time to make one feel *REALLY* old and out-of-touch. Seriously, I gave the budtender a nice tip not only for his assistance, but also for not calling me “Gramps”.

The whole experience was a little overwhelming, even though I had done my research and spent a fair amount of time exploring products on the dispensary’s website. It’s clear that this is still an immature industry, figuring out how to do branding/marketing, communicating with different clienteles, tapping into demographic groups who are not already savvy about cannabis use.

But I was able (with the help of the budtender) to select some different products to try. One of the problems that the industry has (at least in terms of medical use) is that the effects of cannabis are so varied, and standards so inconsistent, that pretty much the universal advice to new users is “just try a bunch of different things at small doses to figure out what works for you”.

So that’s what I’m doing at present. So far, it looks promising.

* * *

Not all the tests we face in life are big. Or obvious. Or dramatic.

Sometimes they’re just a simple challenge: how to deal with this small problem. How to help someone. How to get through the day, or night.

With luck, in another couple of weeks I’ll have more information about my MJD status, and know whether and to what degree I have the disease. I was always very good at taking tests in school, and those I’ve faced in my life since I like to think I’ve passed reasonably well.

Waiting is hard. But it is just one more test to manage, piece by piece, day by day.

Jim Downey



Machado-Joseph Disease: brief update

As the title indicates, this is just a brief update for those following this story.

I’m still waiting for the paperwork for the genetic test to come through. This isn’t surprising, since the local large-institution university hospital which shall remain nameless moves at the speed of most bureaucratic institutions. It could show up any time, or not for weeks. We’ll see.

Since there isn’t any kind of ‘cure’ for MJD, and the disease progresses slowly, I think that unfortunately the medical community doesn’t tend to think that it is a pressing issue. If I had some kind of cancer, or a serious heart problem, testing and treatment discussions would have been much more aggressive. I know — I’ve had a serious heart problem.

I noted in my last blog post that I have no intention of continuing care with the Neurologists at the local large-institution university hospital which shall remain nameless. I have also decided that I need to take my own care into my hands for at least the time being, until I have the test results back and arrange for a new neurologist. I know what treatments are typically used to manage the symptoms of MJD patients, as well as what my family members have found helpful, at least in the early stages of the disease, and I have taken steps to use the same/similar treatments. If it turns out that I don’t have MJD, none of these steps will cause problems.

So right now everything is about mitigation. My balance and flexibility exercises have already shown positive results. The Restless Leg/Arm Syndrome continues to show up periodically. Hand cramping and tremors still happen, particularly after I have been using my hands for intense work. Episodes of vertigo still hit me, particularly when I rotate my head or bend over. Shooting pains and ongoing aches still happen in both hands and feet, though not usually at the same time.

And something new, that I don’t recall hearing about from any of my family, though it is a classic symptom of Type 3 of MJD: instances of blurry/double vision. This isn’t debilitating (at least not yet), and only happens when I am trying to focus on something up close, but it was very surprising and disorienting the first couple of times it happened. If you’ve ever worn multi-focal lenses, it kinda feels like that when you first put them on. I’ve since learned that simply shifting my focus further away resolves the problem instantly.

So that’s where things stand. While I wait for the test, I’m just doing my best to learn to cope with the symptoms. It’s been an interesting process of adjustment to my new reality, and again confirms just how plastic/adaptable humans can be.

Jim Downey



Machado-Joseph Disease: Changes in attitude, changes in longitude

Yeah, I know it doesn’t scan as well. But I don’t want a noted songwriter’s lawyers to sue me. And it’s more accurate for my use.

Yesterday my sister (who, as I’ve mention, has MJD) had her semi-annual check-in with her neurologist’s office, this time a virtual chat/exam with a staff Physician’s Assistant she hadn’t worked with previously. I popped over to St Louis so I could be with her for it, as it would give me a chance to see how it was done, have an introduction to the P.A., and get a direct handle on her current condition and challenges.

And I wanted to talk a little about the difference between this virtual session and my experience with the local large-institution university hospital which shall remain nameless. Obviously, I’m not going to get into health/medicine details, and I have cleared this with my sister.

The difference was striking. Rather than an almost patronizing “I know about this, because I’m the doctor” that was the overall vibe of my exam, the P.A. shared that she herself has M.S., and so personally understands the difficulties of having a neuro-muscular disorder which may be treatable, but for which there is no cure. Even with the limitations of a Zoom call, she exuded empathy, nodding as my sister described recent challenges and changes to her condition, discussing what meds have been working and which needed to be tweaked. They went over vital stats, overall health and wellness, chatted about the possibility of different kinds of therapies which might help, and so forth. The whole thing was personal, friendly, and very helpful.

Now, my sister has a diagnosis of MJD that has been confirmed by the genetic test, and a long care history with this neurologist and their staff. So none of that is an issue, whereas in my case things are still indeterminate (frustratingly so, as I’ve noted). So that’s certainly a very big difference between us, and the care we might expect to receive.

But as my sister was discussing her symptoms with the P.A., I couldn’t help but check off how I had a less severe version of most of them. And I couldn’t help but notice how the P.A. really listened to her, and her own assessment of how she was doing, what she was experiencing. Lastly, I couldn’t help but compare the care and attention she had received versus how I had been treated in my initial exam and in follow-up communications.

Now, you might think that comment is a little harsh, given what I said in this blog post. But I haven’t mentioned here that after that post, I received a response from the Attending Neurologist which … rather curtly doubled-down on the attitude of the initial assessment, and said they knew what they were doing, he knew more about the disease than I did, and that I was presymptomatic for MJD in all their tests, whatever I might happen to think I was experiencing. Though he did grudgingly allow that the genetic test may show something, and if so they’ll address that.

Well, actually, no, they won’t. Because once I have the test results, whatever they show, I’ll be finding a new neurologist. I’ve just seen the difference in how people can be treated, and I know which way I want to go.

Jim Downey



Machado-Joseph Disease: Self care.

Yesterday morning, after having had time to digest things from Monday, I sent a message to my “care team” at the local large-institution university hospital which shall remain nameless. It was a less accusatory and more distilled version of my last blog post, outlining my thoughts and concerns about how the assessment had gone.

Why?

Because in this day and age, you have to be your own best advocate as a patient.

And it worked: within two hours one of the neurologists called me directly to discuss my concerns. It was a good discussion, actually, with a fair amount of back-tracking and back-fill on his part, along with assurances that they really DO understand that this is something that needs proper and prompt attention. REALLY.

I expect, cautiously, that going forward things will be more a meeting of the minds rather than the doctors assuming that they have a monopoly of knowledge about this disease, and will pay more attention to what I say I am experiencing and think it means. But we’ll see.

And that touches on what I wanted to write about today: self care. Or, to borrow a phrase from my old economics textbooks, enlightened self interest.

There are good people in the world. In fact, as cynical an old bastard as I can sometimes be, I think that most people actually want to do the right thing in most situations. We’re a social, collaborative species.

And I think that most medical professionals want to do everything they can to help their patients as one of their basic motivations. Yeah, sure, a bunch of other motivations can also come into play, but I doubt that there are many medical professionals who are truly only in their job for the opportunity to lord it over others. But sometimes, in the stress and demands of their jobs, they need a reminder that you’re a person with a medical concern, and not just a medical puzzle to be solved. So, as I said, you have to be your own best advocate. Recognizing that fact after my experience Monday was an important step for me on this journey.

It also reminded me that I need to shift my thinking in some other ways. Specifically, that whatever I can do to improve my condition will just be a help dealing with it over the long haul. The last time that I learned this was after the stents were installed six years ago, and I had to go through cardio rehab, since about a third of my heart had never fully developed. That was a hassle. But it shifted my thinking, strengthened my heart, and gave me more strength and endurance than I’ve ever had in my life.

So this morning, for the first time in decades, I got back to doing my old martial arts exercises (adapted for my age and condition). The stretching and flexibility components will help me with the early stages of dystonia, and the katas and bo-staff work will aid greatly with my balance and coordination. They’re not going to reverse the effects of MJD, but they will help me make the most of the remaining abilities I have for as long as possible.

And while I was appalled by how inflexible I’ve become, and grateful that there was no one in the room watching me, it felt good to be doing something that I know will help. I had been considering taking up Tai Chi or yoga, but decided that the deep old knowledge I had from my years as a student and instructor of Jujitsu would give me comfort and would be one less barrier to making this a routine in my life, as my (almost) daily 3 mile walk has become since my stent procedure. And comfort is an important component of self care.

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.