Communion Of Dreams


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