Communion Of Dreams


Machado-Joseph Disease: Confession time.

I wasn’t going to say anything about this, because it’s largely a distinction without a substantial difference. But I’ve had several friends ask some questions because of things I posted to social media, and I decided to just clarify the matter.

Last August, when I said this:

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

I lied.

Oh, it’s a small, technical lie, mostly of the misdirection variety. But it’s a lie.

I don’t actually have MJD, or Spino-Cerebellar Ataxia type 3 (SCA3), which is a genetic disease caused by a trinucleotide repeat disorder in a specific gene sequence. Instead, I have SCAR8 (it doesn’t have another name), which is a genetic disease caused by a disorder in a different specific gene sequence, and has symptoms that are like a mild version of MJD, plus a couple of other things that I’d noticed/showed up on clinical exam. Everything else I said in the post from August is true.

If you poke around online, you’ll find that there’s not much on SCAR8, because it’s even more rare than MJD (by like a factor of 10), so there’s even less known about it. But it’s in the same family of ataxias for which there’s no cure and very little in the way of available therapies. You just deal with the symptoms as best you can.

I have always been a fairly pragmatic sort of person, so I figured that since there’s really not much difference between MJD and what I have, there wasn’t a need to confuse the issue with writing about it. But it seems that one of the differences is some mild lower G.I. issues (along with messed-up signals from my body about the urge to urinate), which I had mentioned online and caught the attention of friends.

So there’s that. It doesn’t change anything in what I am doing: treating symptomatically, altering behavior as necessary to account for the disease, and getting on with life as best I can. But having been raised Catholic, I’ve now confessed to the small lie, and gotten that off my chest. 😉

Jim Downey



Machado-Joseph Disease: Who am I?

For about 30 years, I’ve been a conservator of rare books & documents.

That came to an end yesterday when I met with my last institutional client and explained that I need to retire officially as a practicing conservator. Since they follow my blog posts and social media presence, this did not come as a surprise.

As I was driving home from the meeting, I was working through a fairly predictable mix of emotions. Guilt, because I know that this means that important works in their collection won’t get the treatment they need anytime soon. Relief, because now I won’t worry about accidentally damaging some important/valuable book or document. Loss, because my career was now over. Pride, because I know that I have done good work over the years, and made a real difference. And disorientation, because for some 30 years a big part of my identity was being a Book Conservator in private practice — something almost as rare as many of the items I have worked on over the last four decades.

I think anyone who reaches retirement age probably has some mixed emotions about actually retiring. But for most people, they’re ready to retire — to live life on their own terms, to travel, to just get out of the office, to get away from annoying co-workers.

The problem is, I wasn’t ready to retire. And I had already arranged my life so that I lived it largely on my own terms. I’ve traveled. I didn’t have an office I had to go to. I don’t have co-workers who annoy me. I had honestly expected that I would continue to do conservation work until old age claimed me, since the work is typically not strenuous.

MJD had other ideas, as I’ve noted.

So, officially, I am no longer a Book Conservator.

Yes, I am still many other things. An artist. A writer. A cool, handsome guy who is just 64 and certain that he’s still a babe magnet.

OK, maybe not that last one.

But the point remains that there are still many facets of my identity that remain, even though I have of necessity set aside the title “Book Conservator”.

I suppose “Retired Book Conservator” still sounds pretty cool.

Jim Downey



Machado-Joseph Disease: As one chapter closes, another is begun.

Recently I drove out to Las Vegas, for the first post-Covid national meeting of the Liberal Gun Club (I can be seen at several points in the video, wearing a red & white flannel shirt). It’s a drive I’ve made previously in two days (about 12 hours each day), but I decided that it would be wise for me to split it up into three days each way, to better reduce my stress and better accommodate the unpredictable episodes of MJD symptoms (since I didn’t want to take any of the painkillers or MMJ stuff that help me manage those episodes while I was driving).

It was a good decision. When I had an flair-up of symptoms, I knew that I could take a break without feeling a lot of time-pressure.

And it gave me more time to think.

To think about this past year, and where I’ve found myself. To think about the LGC event (particularly after it was over, and I could reflect upon what happened there). To think about the near-term future.

As I noted yesterday (and in this series of MJD-related blog posts generally), it’s been a challenging year. And there’s nothing like going naked (in the sense of not taking any meds) for a prolonged period of time to show you, honestly and clearly, what your real condition actually is.

Mine isn’t bad. But it is perhaps a lot worse than I had realized, in my day-to-day life. That’s because being able to take things that help manage it means that I can largely ignore the symptoms. Without those meds, though, the truth tends to be a little sharper edged (as is the pain). While teaching a black powder workshop I had hand spasms that were so bad I couldn’t hold onto the gun I was using at the time, let alone manage to load it. So much for the idea that being focused on a given task (which I was) would be enough to set aside that symptom. I verbally walked my students through the process, and we got on the other side of it fine. But it was a sobering moment.

A moment that drove home the idea that it was time for me to make some changes. Specifically, that it is time for me to pretty much completely retire from conservation work. As I noted in this blog post last May:

As a conservator, I can’t afford to celebrate my mistakes. There will of necessity come a time when I need to stop doing conservation work, out of respect for the items entrusted to my care. That time is rapidly approaching; indeed, it may already be here.

I think I crossed that line sometime this summer. So the time has come for me to (mostly) stop doing conservation work altogether, at least in terms of being hands-on.

That’s a big change for me. I’ve largely defined myself as being a book conservator for 30 years.

* * *

Western Utah is stunning. But also bleak. And more than a little alien to my Midwestern eye.

I think those vistas, and the mental space I was in on my drive home, helped me realize something else.

That I’m ready to start writing a sequel to Communion of Dreams.

I hesitate even mentioning this, since I had so many people after me about the long delays in writing St Cybi’s Well. But I decided to share it to help offset the seemingly ‘bad’ news that I need to retire as a conservator.

So here’s the deal: don’t ask how it is going, or when I expect it to be done. I’m at the very beginning of the whole process, and it is likely to take years. I may occasionally mention things about it. Or not. But asking me about it is not going to get any additional information beyond what I volunteer, and will just annoy me. You can wish me well with the writing, but leave it at that, OK?

Thanks.

Jim Downey



Machado-Joseph Disease: a bitter harvest.

Just harvested this year’s super-hot habanero crop, in advance of the first hard freeze of the season. Here it is:

Yup, that’s it. 29 peppers, and half of them not entirely ripe.

29.

Compare that to the 1,000+ of most years, and the 1,500+ of some years.

Now, partly this is due to a decision on my part to only plant about half the usual number of pepper plants. But still, 29? Really?

It’s been that kind of year.

We’ve had a prolonged, serious drought here. And I was busy with working on the house and managing other things, so I didn’t water or care for the garden nearly as much as I typically do. Sometime late summer I just kinda gave up on it.

Late summer. Hmm. What else was going on then?

Oh, yeah. That. I got my results back.

I didn’t think that I had that much of a response to the results of the MJD testing. But I’d be a fool to deny that this year has been a challenging one, and the confirmation of my expectations did have an impact on me. An impact that is still playing out, and that means more changes to come.

More on that soon. And don’t worry, not all of it is bad. It’s mostly just change.

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: 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