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

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