Spinocerebellar Ataxia
I've been trying to wrap my head around a way to post this for a few weeks now. I've come to the conclusion that if I keep writing it and rewriting it in my head, it'll never get posted. So I'm just going to go with the flow.
I've known for 25 years or so that my family has a genetic disorder. We've always called it Branchitis. It doesn't affect all of us, nor does it affect all of us in the same way. I know it killed my great-grandfather, I know my grandfather died from it (or from complications caused by it, anyway). I know my father has it. I know my uncle has it pretty bad, and I know that several of my cousins have it. I know that I have it, I recognized symptoms of it one day when I was 23. Apparently, that's pretty young to begin showing symptoms. But I've always thought that it was just confined to my family, and so I've been pretty fatalistic about it. I mean, if it's only one family, there's probably not a whole lot that's going to be done about it.
I learned a few weeks ago that there are a lot more people suffering from it than just us. I also have a name for my nemesis: Spinocerebellar Ataxia, or SCA. There are somewhere around 150,000 known cases in the US. Probably a lot more that are unknown, as people just deal with it or because it is often misdiagnosed as just "getting old," dementia, and Parkinson's Disease (because it sometimes has some similar symptoms). There are currently 29 known variants (SCA-1, SCA-2, SCA-3...) which have varying symptoms and such. They know which gene is the problem. They know what happens. It's basically something like a transcription error on this one gene. Which causes brain cells in the cerebellum to not work exactly right, and causes all sorts of fun problems.
Here's the wikipedia entry on it:
http://en.wikipedia.org/wiki/Spinocerebellar_ataxia
There's also several different ataxia and SCA organizations out there that are supporting research. And actually, I read an article about researchers in Japan that were able to repair the affected gene that was causing SCA-1 in lab mice using a genemodded retrovirus. They expect to begin testing chimps sometime in the next couple of years. Meanwhile, I'm stuck with it. More later on how it affects me, specifically. But really, most of the time, I forget about it. This is not a pity-party.
Something that does weigh heavily on me is whether or not I've passed this on to my daughter. It's a dominant gene, so there's a 50/50 chance that she has it. No way to know other than genetic testing. I'm going to look into that. No need to test me, I know I have it. I'm also seeking a neurologist to begin looking into this, which my wife has been after me to do for many years. Before, I saw no need to. I didn't think there was any hope. Now that I know we aren't alone, I'm much more hopeful.
I've known for 25 years or so that my family has a genetic disorder. We've always called it Branchitis. It doesn't affect all of us, nor does it affect all of us in the same way. I know it killed my great-grandfather, I know my grandfather died from it (or from complications caused by it, anyway). I know my father has it. I know my uncle has it pretty bad, and I know that several of my cousins have it. I know that I have it, I recognized symptoms of it one day when I was 23. Apparently, that's pretty young to begin showing symptoms. But I've always thought that it was just confined to my family, and so I've been pretty fatalistic about it. I mean, if it's only one family, there's probably not a whole lot that's going to be done about it.
I learned a few weeks ago that there are a lot more people suffering from it than just us. I also have a name for my nemesis: Spinocerebellar Ataxia, or SCA. There are somewhere around 150,000 known cases in the US. Probably a lot more that are unknown, as people just deal with it or because it is often misdiagnosed as just "getting old," dementia, and Parkinson's Disease (because it sometimes has some similar symptoms). There are currently 29 known variants (SCA-1, SCA-2, SCA-3...) which have varying symptoms and such. They know which gene is the problem. They know what happens. It's basically something like a transcription error on this one gene. Which causes brain cells in the cerebellum to not work exactly right, and causes all sorts of fun problems.
Here's the wikipedia entry on it:
http://en.wikipedia.org/wiki/Spinocerebellar_ataxia
There's also several different ataxia and SCA organizations out there that are supporting research. And actually, I read an article about researchers in Japan that were able to repair the affected gene that was causing SCA-1 in lab mice using a genemodded retrovirus. They expect to begin testing chimps sometime in the next couple of years. Meanwhile, I'm stuck with it. More later on how it affects me, specifically. But really, most of the time, I forget about it. This is not a pity-party.
Something that does weigh heavily on me is whether or not I've passed this on to my daughter. It's a dominant gene, so there's a 50/50 chance that she has it. No way to know other than genetic testing. I'm going to look into that. No need to test me, I know I have it. I'm also seeking a neurologist to begin looking into this, which my wife has been after me to do for many years. Before, I saw no need to. I didn't think there was any hope. Now that I know we aren't alone, I'm much more hopeful.