Not the next entry I intended

Well, I’d meant to make my next entry the second half of my Access and Accomodation musings.

Instead, I’ve gotten another piece of very rough news, so bear with me here a little.

I recieved the report from the geneticist who diagnosed me yesterday. It had some…unexpected things in it, none of which were good.

There were the little things that weren’t good – need to get my hearing checked because I wasn’t hearing things evenly on both sides, signs of gingivitis in my mouth, that sort of thing.

And then there was the big one.

While I’ve been diagnosed with EDS, I’ve been diagnosed with what is considered one of the relatively more ‘benign’ varieties. You see, while classical and hypermobility types of EDS will destroy your joints pretty thoroughly, and cause a variety of (relatively) minor problems with your organs, not to mention the…interesting…scars and stretch marks all over, they don’t have the high potential for fatality that vascular type has.

But now I need to be tested for vascular type. Or rather, my grandfather needs to be, because if I have vascular type, it comes through him, and all of my aunts and uncles need to be tested. If he won’t do it, apparently, I really need to.

I’m upset. I mean, I mentioned my suspicions of possible vascular type in the appointment, but really felt like the answer was that it wasn’t likely. I now know that I have markers that match up with vascular type – I have grey scelera (that’d be the whites of the eyes) and my most profoundly hypermobile joints are the small joints of the hands/fingers. Both of those match up with vascular type. I hadn’t thought this seemed likely, and yet…well, here we are, facing expensive genetic sequencing. The vascular type is the only one for which there is a conclusive genetic test.

The life expectancy of someone with vascular type is on average 50 years.

I’m sure you can imagine, my boyfriend and I are devastated. I haven’t told my parents what the implications are yet, because frankly until we know I have it, I’m not willing to do that to them.

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