Communion Of Dreams


Machado-Joseph Disease: all things being equine …

My feet hurt. My hands hurt.

Actually, let me be a little more specific: the backs of my hands and wrists hurt. The tops of my feet and the fronts of my ankles hurt. If I were on all fours, you could see the symmetry of the places that hurt. It feels like all four joints were hyper-extended, and now hurt from it.

I put it into these terms because there’s value in understanding something about MJD: it affects the cerebellum, that part of the brain that controls movement and coordination, as well as having a role in pain awareness and some emotional/intellectual controls. This is an ‘old’ part of the brain that we share (in evolutionary terms) with most vertebrates.

Like horses.

Why do I mention horses, specifically?

Because of this:

Episode 51: Shivers Horses and Its Association to the Cerebellum

In this episode, Dr. Audrey DeClue focuses specifically on the association of the cerebellum to shivers horses. She shines a light on the existing, published research on shivers and the trouble with conclusions based on a small sample size. She also includes an interview with longtime friend, Celeste, to provide a powerful story of what it is like to live with a degenerative cerebellar lesion.

The ‘Celeste’ there is my sister. Who first experienced the onset of MJD symptoms about 20 years ago, and has been living with the disease since.

The whole podcast is well worth listening to, but the discussion with my sister starts at about the 28 minute mark, and lasts for about 20 minutes. In the interview Celeste is forthright about the challenges and pain associated with the disease, and how her symptoms have evolved over the last two decades. In listening to it, I was struck not only by her astute awareness of her body and how it has changed over the years (she is very smart and observant, no surprise) but also in just how much her early experiences echo what I have been experiencing the last couple of years (though my symptoms are mild compared to hers). That includes not only symptoms, but the frustrations of trying to get doctors to actually listen to her describe her subtle symptoms early on.

It’s an excellent interview, and Dr DeClue is a sensitive and talented interviewer. I encourage you to give it a listen if you are interested in this rare disease, and what it is like to live with it.

Jim Downey



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