Filed under: Book Conservation, Brave New World, Connections, Depression, General Musings, Genetic Testing, Health, Science, Society, Survival | Tags: ataxia, balance, blogging, cats, genetics, health, jim downey, Machado-Joseph Disease, medicine, MJD, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, SCAR8, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
It’s been an … interesting … couple of months, for reasons that I’ll explain at some point in the future, when I can get into it without violating confidentiality of a client. For now, just accept that I’ve been fairly busy with a variety of projects, including the process of adding this loving big boi to our household:
That’s Marmaduke, who is about three years old, and who needed to be rehomed after the passing of an old friend of mine. We’ve been happy to give him a new home, though our other two cats are somewhat less thrilled. But no worries, he’ll fit in fine in a couple of months.
But writing about Marmaduke isn’t my goal, here.
Rather, I wanted to share something that I’ve been thinking about lately: my seeming calmness about having SCAR8.
My primary care doc retired the end of last year. So I’ve been in the process of finding a new GP, and that means filling out new patient paperwork, arranging for medical files to be transferred, etc. It also means that I’ve been thinking about how to explain my family history with MJD and what my genetic testing indicated. Because I don’t expect most GPs to have any knowledge of MJD, let alone what I evidently have — they’re just too rare.
And thinking about that, I realized that I have come to calmly accept this fact in the last few months. Why is that?
I mean, on one level it’s the sort of obscure medical problem that could make someone fall into a tailspin of depression and anger, raging about the unfairness of it all, or despairing how so-called orphan diseases are largely ignored by our medical care system. After all, this has changed my life in some significant ways. I’ve had to quit as a practicing conservator, a profession I loved and was very good at. I have more physical problems related to the disease: more pain, hand spasms, Restless Leg & Arm Syndrome, episodes of dizziness/vertigo, and some annoying lower GI and bladder issues.
But all of those symptoms are relatively minor, and there are things I can do to help deal with them. My usual Rx meds manage these new pains well. The hand spasms are rare, and I can usually just stop doing whatever it is that sets them off. Low-dose THC edibles help control the RLS/RAS and help me sleep better at night. Meclizine manages the balance and dizziness fairly well. And I’ve just learned new cues from my body to manage the GI/bladder issues. I mean, it’s not ideal, it wears me out each day and I’d rather not have to worry about it, but all in all it’s mostly just an annoyance at this point, rather than a debilitating diagnosis.
And, honestly, just knowing what is likely going on allows me a great deal of psychological space to cope with it. Because, remember, I grew up watching family members manifest symptoms of MJD before we even had a name for it. There was no genetic test for it. There was no treatment. There was no explanation for what was going on, or how to cope with it. The symptoms weren’t understood, and neither was the likely progress of the disease. It was just the family curse.
So I have a more sanguine perspective because I can afford to. I have “MJD-lite” not MJD itself. SCAR8 is rare enough that the progress of the disease is uncertain, but I am reasonably sure that I should be able to live a normal lifespan without it becoming too onerous.
And I don’t particularly want to spend any significant part of that lifespan seeking some kind of miracle cure. Medical science can be amazing, and in some really personal ways it has had a huge impact on my life (I’m thinking specifically of my stents to correct a heart defect seven years ago). But there are limits to modern medicine, and what it can do. Wasting a lot of time, energy, and money trying to seek out some elusive treatment strikes me as … unappealing. If there was any indication that there was some sort of viable treatment, I’d likely have a different opinion on this. But there isn’t.
So, better to just get on with the business of living, to the best of my ability. After all, there are cats that need petting.
Jim Downey
Filed under: Brave New World, Connections, Feedback, General Musings, Genetic Testing, Humor, Machado-Joseph, Religion, Science, Society | Tags: ataxia, balance, blogging, Catholicism, confession, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, medicine, MJD, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, SCAR8, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
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
Filed under: Art, Book Conservation, Brave New World, Connections, General Musings, Genetic Testing, Health, Humor, Machado-Joseph, New Horizons, Predictions, Preparedness, Science, Society | Tags: art, arthritis, ataxia, balance, blogging, book conservation, bookbinding, Communion of Dreams, fasciculation, genetics, guns, health, jim downey, Legacy Bookbindery, Machado-Joseph Disease, medicine, MJD, MMJ, neurology, neuromuscular disease, pain, peripheral neuropathy, SCA3, Science Fiction, spinocerebellar ataxia type 3, St. Cybi's Well, travel, vertigo, Wikipedia
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
Filed under: Brave New World, Connections, General Musings, Health, Machado-Joseph, Predictions, Preparedness, Science, Society, Survival | Tags: arthritis, ataxia, balance, blogging, cannabis, codeine, dystonia, genetics, health, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, MMJ, neurology, neuromuscular disease, pain, peripheral neuropathy, restless leg syndrome, RLS, SCA3, science, self care, spinocerebellar ataxia type 3, Tramadol, Tylenol 3, vertigo, Wikipedia
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
Filed under: Brave New World, Failure, Feedback, General Musings, Genetic Testing, Health, Humor, Machado-Joseph, movies, Preparedness, Science, YouTube | Tags: arthritis, ataxia, balance, blogging, cannabis, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, Monty Python, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
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
Filed under: Connections, Failure, Feedback, General Musings, Genetic Testing, Health, Humor, Machado-Joseph, Predictions, Preparedness, Science, Survival | Tags: arthritis, ataxia, balance, blogging, cannabis, CTE, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, SCA3, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
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
Filed under: Connections, General Musings, Genetic Testing, Health, Machado-Joseph, Predictions, Preparedness, Science, Society, Survival | Tags: ataxia, balance, blogging, genetics, giardiasis, health, humor, jim downey, Machado-Joseph Disease, medicine, MJD, neurology, neuromuscular disease, pain, peripheral neuropathy, restless leg syndrome, SCA3, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
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
Filed under: Connections, Failure, Feedback, General Musings, Genetic Testing, Health, Humor, Machado-Joseph, Predictions, Preparedness, Science, Survival, tech | Tags: arthritis, ataxia, balance, blogging, cannabis, CTE, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, SCA3, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
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
Filed under: Connections, Failure, Feedback, General Musings, Genetic Testing, Health, Humor, Machado-Joseph, Predictions, Preparedness, Science, Survival | Tags: arthritis, ataxia, balance, blogging, cannabis, CTE, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, National Organization of Rare Diseases, neurology, neuromuscular disease, NORD, pain, peripheral neuropathy, restless leg syndrome, SCA3, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
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
Filed under: Brave New World, Connections, Failure, General Musings, Health, Humor, Machado-Joseph, movies, Predictions, Preparedness, Science, Survival | Tags: arthritis, ataxia, balance, blogging, cannabis, dystonia, genetics, health, humor, jim downey, Machado-Joseph Disease, marijuana, medicine, MJD, neurology, neuromuscular disease, pain, peripheral neuropathy, restless leg syndrome, SCA3, science, self care, spinocerebellar ataxia type 3, testing, vertigo, Wikipedia
“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
Communion Of Dreams 