Communion Of Dreams


Machado-Joseph Disease: Nervous

I honestly didn’t expect this.

Arrangements have now been made for the genetic test I’ve been wanting, and now I’m nervous about it.

Yeah, sure, it makes sense that I might be nervous about finding out I have MJD. That’s perfectly understandable. But I’m also weirdly nervous about finding out that I don’t have MJD.

WTF?

See, there’s a part of me that, well, as I said previously:

So there’s some small doubt in my mind sometimes as to whether I actually have the disease, or if I’m just concocting it from a variety of lesser symptoms of normal aging and my own rather rough & tumble life. And boy, wouldn’t that be embarrassing? I mean, I’ve told all my family and friends that I’ve got this happening, I’ve posted about it on Facebook, I’ve blogged about it. What if I’ve just imagined it all? What if I’ve got a case of hypochondria going on?

After all the fuss I’ve caused. After all my own worrying. After troubling friends and family. If it turns out that I don’t have it …

Well.

< deep breath >

If it turns out that I don’t have it, I’ll have dodged a bullet. It’ll just mean that I have been overly vigilant, perhaps over-reacted to some aspects of normal aging. Yeah, that might be a little embarrassing. But I think anyone who has had a health scare will understand.

And, as a friend said recently, it’s not like I’ve just invented this disease out of whole cloth. The fact that five close family members have had it in my lifetime means that it is a reasonable thing to check out, once I detected symptoms which could indicate onset.

Sometime in the next couple of days I’ll have the blood draw, and that will be sent off to Massachusetts. I should have the results back in about a month.

Keep your fingers crossed.

Jim Downey



Machado-Joseph Disease: It’s all in my head

I’m in this curious grey zone currently. On the one hand, I’m about 99% certain that I have the onset of MJD, for all the reasons that I’ve mentioned. On the other, I don’t yet have a diagnosis or the results of the genetic test for the disease (which is definitive).

So there’s some small doubt in my mind sometimes as to whether I actually have the disease, or if I’m just concocting it from a variety of lesser symptoms of normal aging and my own rather rough & tumble life. And boy, wouldn’t that be embarrassing? I mean, I’ve told all my family and friends that I’ve got this happening, I’ve posted about it on Facebook, I’ve blogged about it. What if I’ve just imagined it all? What if I’ve got a case of hypochondria going on?

Think of it as an inverse version of imposter syndrome, and you’ll see what I mean. After all, the symptoms I have are currently episodic, lasting a few hours here or there, then disappearing for a day or three. When I’m not actually experiencing them, it’s almost easy to think that I was imagining it all. And not having the disease is how I’ve lived some 63 years of my life, so it’s the norm.

But then, there are days like yesterday.

We’d had some heavy rains, and I needed to go down into our crude basement to see how much flooding there was. It’s not a real basement, as most people think of such. Rather, there’s an area about 10×20′ that has a concrete floor, but then the floor slopes back to be just a crawlspace for the rest of the rambling structure. What passes for a foundation is a porous brick structure, and during heavy rain, it floods. Where there’s the concrete floor is where the boiler for the radiator system sits, and close by is the hot water heater. Such is the state of a 139 year old sprawling house that has seen multiple additions and changes.

Anyway, I’d installed a sump pump to deal with the worst of the flooding, and it works to do that reasonably well. But still, I usually go down and check when we have heavy storms. So that’s what I did yesterday.

After seeing that the concrete area was OK, I went further back just to look around at the rest of the crawlspace, using a flashlight. I had to crouch down a bit where the floor was rising. And the combination of bending over a bit and having a limited amount of light for visual reference triggered a quick and intense vertigo.

This is a classic MJD symptom. Because MJD is largely thought to cause disruptions in the cerebellum, people who have the disease are prone to balance and coordination problems. Without visual references to confirm my vestibular and proprioception, things got quickly out of whack.

Now, this never used to be a problem for me. I always had an exceptional sense of balance and awareness of my body in space, regardless of whether my eyes were open or closed, regardless of movement or orientation of my head. Having this happen is affirmation that my suspicions are likely correct, and I do have MJD and it’s not just my imagination/hypochondria.

I suppose either way, it’s all in my head.

Jim Downey