Communion Of Dreams


Machado-Joseph Disease: oops.

As I’ve mentioned, I’m in a long-term project to repair and repaint our 1883 historic home. Most days I put in several hours of work on it, according to what my symptoms allow.

The pic above was from yesterday, just as I was getting to work on painting the ceiling of our large carport. The six-foot stepladder is sufficient for this chore, though not ideal — I need to hold onto the roller pan or paint bucket while I work above my head. Well, just as I was getting started, I went up the ladder … and promptly dropped the roller pan. It just slipped out of my hand.

Now, like everyone, I’m occasionally clumsy. Always have been. And I’ve made bigger messes than that shown.

But in the past, my clumsiness has always been related to some other factor. I was distracted. Or I was doing something I knew was marginally safe/balanced. I’d drank too much. I had a migraine. I hadn’t slept. Et cetera.

Not this time. I felt fine. I’d had a good morning, getting in my walk and exercises. I’d had breakfast, and was sufficiently caffeinated. I’d set up everything properly to paint, and the ladder was stable. There were no unusual or unpredictable factors at play.

Except MJD.

And that was enough. My hand … just let go.

As I picked up the roller and tray, and cleaned up the mess, I was pissed off. And feeling very, very fragile. It was a rude reminder that I have a disease I can’t control. All I can do is manage the symptoms to the best of my ability.

In the end, it was just an hour or so delay before I got to painting. And a lesson in not taking things for granted I have always taken for granted.

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: Not Dead Yet*.

So, I got the genetic test results today: I have a mild version of MJD.

That’s not an official diagnosis. I probably won’t have that until sometime next year, after I have different insurance (Medicare) and can find a local Neurologist to work with. Because I won’t go back in to the Neurology Clinic at the local large-institution university hospital which shall remain nameless, for reasons outlined previously. And because they didn’t bother to send me the results — which they have had for over a month — until I called them up. And they’re supposed to post all such results to the ‘patient portal’ within two days of getting them. Grrr.

But the results are clear. And since there is little or nothing that modern medicine can do for me that I’m not already doing, I’m happy to just wait.

Knowing the results makes a difference. And while it’s not good news, it could certainly be worse. I know what is going on, and what to expect. Thanks to my sister’s experience, and the experience of my other family members, I know most of the best strategies to manage the disease. Because of my age of onset (about 4 years ago, I think, so about 60 years old), and the type I have, I should experience a normal lifespan and slowly progressing symptoms. I can plan and work with this information.

I intend to continue to write about this, but those posts will probably be just occasional updates when I feel like I have something interesting to say.

Thank you for your good thoughts and support — it’s helped me these past months while I have navigated this experience.

Jim Downey

* https://www.youtube.com/watch?v=Jdf5EXo6I68



Machado-Joseph Disease: ∞

Eight weeks.

8

Which, on its side, helpfully looks like the infinity symbol: ∞.

Because while it’s been eight weeks since my blood sample was drawn for the genetic testing for MJD, it feels like I’ve been waiting an eternity for the results.

Of course, it took a full month for the Neurology Clinic at the local large-institution university hospital which shall remain nameless to order the test.

And I waited two months before that to get in to see those neurologists, because I thought I needed a referral.

And I waited three months before that in order to get in to see my GP in order to explain why I wanted the referral.

Yeah, count back, and that means I have been waiting all this year in order to get a diagnosis for the disease I’m reasonably certain I have. Little wonder that NORD (the National Organization of Rare Diseases) says that typically, a correct diagnosis for someone with a rare disease (such as MJD) will take upwards of five years. I’m already most of a year in, and I even KNOW the disease actually runs in my family. Imagine what it would be like if it was just a random mystery disease, and we had to start from scratch to determine what was going on.

>sigh<

Yes, it’s frustrating. Friends and family keep asking (just being supportive, not annoying), and I keep telling them the same thing: no results yet.

Meanwhile, I continue to just deal with the symptoms as best I can. And things do continue to evolve. Balance issues are now fairly routine. Hand & feet pain and Restless Leg/Arm Syndrome less so, but seem to be happening more often. And I’ve started to experience occasional vision difficulties (focus/double vision problems) that I can usually ‘reset’ by changing my point of focus to something far away, then shift back to a closer item. It’s not an actual double image, but rather the sort of thing you experience when trying to look through the wrong part of progressive lenses, then shift your vision so things slide back into focus.

The good news is that the MMJ does help most of these symptoms quickly, and I have cut my mild opioid intake by about 50% since I figured out what worked for me.

Meanwhile, I wait. I check to see whether the results have been posted to my account on the diagnostics site or my patient portal for the local large-institution university hospital which shall remain nameless. And I get on with life.

While waiting.

Jim Downey



Machado-Joseph Disease: not immune.

I just spent about 20 minutes sitting on a toilet. And so far this morning, a total of about an hour doing that.

TMI? Yeah, sorry. But I mention it because it has demonstrated a truth of which I was only partially cognizant of previously: there is no immunity from other illness when you have a chronic disease.

I mean, I knew this, but until you live with it, it’s not something you think about a lot.

See, a couple of weeks ago I started to notice a pattern of gut-grumbles I don’t normally experience. And about ten days ago it resolved into something I thought I recognized: giardiasis. Twenty+ years ago I had a bout of this, likely picked up from tainted water on a camping trip. Where I got it this time, I have no idea.

But after recognizing the symptoms, I contacted my GP clinic and got in to see a doc. Who did the necessary exam, discussed options with me, ordered the appropriate tests, and prescribed a powerful antibiotic which is the standard treatment for giardiasis, and which cured me the last time. I’m now in day 7 of that treatment, and while there are *some* indications it is working, well, I still wind up sitting on the toilet with nasty spasms every 6-8 hours or so, unless I really load up on OTC anti-diarrheal treatments. Even so, I don’t dare get very far from a bathroom for very long.

Of course, through all of this, I am still experiencing the random rotation of MJD symptoms. Joy. Now I have TWO reasons to compulsively check my health/testing accounts: to see if the MJD test results are in, and to get confirmation of the giardiasis. Because yeah, even though tomorrow will be seven weeks since the genetic test samples were collected, I’m still waiting on those results.

No one who has lived with a chronic disease will find any of this surprising. They know that it just goes with the territory. Hope you never have an opportunity to experience it for yourself.

Me, I’m going to take some pro-biotics and get a nap. Maybe the test results will be in after.

Jim Downey

Edited to add several hours later:

Spoke with my GP’s office. Turns out I did have giardia, but happily there was no sign of c. diff, which was a possible concern. So after a week of taking Flagyl, I can now stop that (that alone was probably part of the ongoing spasms & diarrhea) and work to get my system working normally again. That means increasing my probiotics, getting back to normal eating habits (with my relatively high fiber diet), and taking it easy just to let my body recover.

So, no news yet on the MJD test, but at least this other problem should resolve in the coming days.

JD



Machado-Joseph Disease: I’m W A I T I N G !

Tomorrow will be five weeks since the blood draw for my MJD genetic test.

I just checked (for the fifth time so far today), and neither my patient portal for the Neurology Clinic at the local large-institution university hospital which shall remain nameless now the diagnostics lab that handled the test has results back yet.

>sigh<

I don’t really have much to say that I didn’t say two weeks ago in this post, other than the fact that it’s been two more weeks of waiting. Everything there still applies.

But I wanted to whine a bit.

Not that it will do any good, other than allowing me to vent my spleen.

Which sometimes is enough.

Barely.

Jim Downey



Machado-Joseph Disease: three weeks.

It’s now been three weeks since my blood samples got to the testing lab to do the genetic test for MJD.

And I’ve just checked, for the fourth or fifth time today, to see whether the results have been posted to my account on the diagnostics site. They haven’t.

I’ll check a few more times today. And though it’s unlikely that the results would be updated over the weekend, I’ll probably check several more times tomorrow and again on Sunday.

Not that I’m obsessing, or anything.

No, really.

It’s just that in an era when I have literally a dozen 15-minute tests for Covid in my bathroom, when a standard blood panel workup will be done in a couple of days, and when almost any other test results I can think of would be available in a week or so, waiting three weeks seems … excessive.

NORD (the National Organization of Rare Diseases) says that typically, a correct diagnosis for someone with a rare disease (such as MJD) will take upwards of five years. So I suppose I should just consider myself lucky that I know what to look for, and to have the resources to push for the test and get it ordered. A few weeks of waiting for the results are, in the big picture, a minor annoyance. But still, it *is* an annoyance.

Several friends have asked me what the next step is, once I get the results.

That depends on what the results are, of course.

If the genetic test shows that I fall in the zone of either possibly developing MJD (an intermediate number of CAG nucleotide repeats in the relevant DNA segment) or over the threshold considered to be definitive for MJD, then I’ll find a local neurologist who will be willing to work with me to monitor and manage the disease. No, there’s no way in hell I’m going back to the Neurology Clinic for the local large-institution university hospital which shall remain nameless, if I can avoid it.

If the test comes back and rules out MJD (I consider this unlikely, but it is possible), then I need to think about what to do. I just turned 64, so a year from now I’ll qualify for Medicare, and it might make sense to just wait until I have that before starting a series of additional neurological tests. Particularly since if I don’t have MJD, there’s really only one other thing that would explain my symptoms over the last year: CTE. That’s a diagnosis that can only be made during an autopsy, and I’m not ready for THAT test just yet, thanks.

Either way, I’ll probably continue to just manage my symptoms as best as I can, and get on with life. I’ve now experimented with enough different MMJ products to have a handle on what helps and what doesn’t, related to method of ingestion and dosage. Turns out that smoking/vaping has little or no benefit for me in dosages low enough to not trigger all my MJD symptoms, but both tinctures and edibles do have some therapeutic benefits. Small dosage edibles help me sleep longer, with less use of opioid Rx meds. And a mild dosage of tincture seems to very quickly stop Restless Leg/Arm Syndrome (as a friend said, most people don’t understand just how miserable RLS can be). Just figuring out these two things has made a significant difference in my day-to-day life already. And my balance & flexibility exercises continue to help with those issues.

Just checked: still no results posted.

>sigh<

Jim Downey



Machado-Joseph Disease: I ain’t no wizard.

“Your love of the halflings’ leaf has slowed your mind.”

— Saruman, to Gandalf. The Lord of the Rings movie.

As I mentioned in my last post:

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, following this standard advice, when I went to the dispensary for the first time I got a variety of different products. Tincture, edibles, flower, and a couple of pre-rolled joints. The tincture and edibles both have proven promising in my testing, taking the edge off my pain and other symptoms and helping me to sleep better. Last evening before dinner for the first time I tried to smoke some of the stuff taken from a pre-roll, so I could measure it out and be a little more careful about dosage than just lighting up a joint.

I measured out a modest amount, and put it in a glass pipe I’d also picked up. Standard little spoon-style, with a ‘carb‘ (hole on the side that controls airflow). I lit the bowl, drew the smoke into the chamber, and released the carb — and took a deep hit.

The smoke filled my lungs. And immediately I about coughed my lungs out. Hacking, spitting, coughing, tears, the whole 9 yards. Pathetic. But hey, I haven’t actually tried to smoke anything in what … four decades? But clearly, I ain’t no wizard. And I was overly generous in how much to put in the bowl.

Anyway, I went back inside after I recovered sufficiently, and sat down before the effects slammed into me. Good thing, because I was just about useless for the next twenty or thirty minutes. It wasn’t just the high, which I expected. It was also the way it seemed to suddenly multiply all the MJD symptoms I usually experience: vertigo, shaking hands, deep tremors in legs, shooting pain in the arms and feet, difficulty in eye-hand coordination, everything. All at once. About ten times worse than the usual symptoms.

I texted Martha and told her that she needed to take over dinner, that I just needed to sit and ride out the effects for an hour or so. I wasn’t worried; taking psychedelics long ago taught me how to just let the trip unfold without fighting it. The effects backed off and in an hour or so I was functional enough to get up and get some dinner, go into the living room and watch some TV while we ate. The effects then dropped off fairly completely after about four hours.

The worst thing, though? It didn’t do a damn thing for my pain. Oh well.

One strain down, others to try. But only after I get a small vape to allow me to control dosage even better, and take some of the edge off the raw smoke. Live and learn.

Jim Downey



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