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.
I’m so sorry to hear this. Take good, good care of yourself — body, mind, and heart — and keep blogging on your journey. Warm wishes are sent your way.
Peace,
hedwyg
Thank you. It helps, somehow, to know that there are people who actually…watch, and care.
Best,
Kali
I am so sorry to hear this. I originally came over from Naamah’s LJ and have added you to my feed reader. I’m just about the same age as you and can’t fathom what I would do in your shoes.
I really really hope it isn’t vascular type.
You know, two years ago, I don’t think I would’ve been able to fathom what I would do in my current situation. I think it’s one of those things where until you’re there, you can’t imagine how you could possibly deal with it.
You and me both. Further reading has suggested that whether or not my grandfather tests positive, I ought to be tested too, as a large number of vascular type EDS is what’s called ‘de novo’ – it means that the mutation originates in that particular person, and from then on it’ll be inheritable, but they themselves are the ‘mutant’.
Life expectancy is usually based on the mean, rather than the median, life expectancy. For example, if there are three people in a population, and they live 10, 70, and 80 years, their ‘average’ life span is 53.333… but the ones that make it past 10 live long productive lives. I don’t know about EDS vascular type, but the average life span for people with severe mental illness is also 50-something, and that number is affected by the number of suicides in their teens and twenties. If it turns out that you have vascular type, ask your doctor about what the life expectancy number is based on. It could be that no matter what, you have the same life expectancy, but it could also be that people who make it past 30 live to be 65+.
Hi,
I’ve been reading your blogs for a while now, since I have been diagnosed with EDS – type 3 recently. The doctor who diagnosed me, sent me to a genetic testing clinic, but without further explanation. As I am still fifteen, and I hadn’t even heard of EDS before I started to do some research myself, I didn’t ask my doctor anything about the test. So now I need to wait another month(my test’ll take place in january), .. and I’m trying to figure out why she sent me there in the first place, because apparently, there is no genetic testing available for type 3, as I’ve read many times. My family also doesn’t appear to have eds, but they do all got rheumatic diseases.
Reading blogs made by other people with eds is helping me to figure everything out, even if it may not be eds that I have. (:
Lisa
Hi Lisa, welcome! I had only heard of EDS a year before I got diagnosed, when I started talking on message boards trying to find out why I was so sick. And my first thought was, that can’t be me, I don’t have the stretchy skin and while things were bad, I didn’t think they were that bad.
After almost a year living with what is probably secondary fibromyalgia, I finally decided that maybe it was right. Sure, I don’t have the stretchy skin, but mine is very soft and easily torn. And I did have an awful lot of the other signs.
As far as the test, that tends to be looking for Type IV. It’s probably precautionary. Did they do a biopsy and send it off?
As for type…I don’t know if they told you, but the typing is mostly just saying which collection of symptoms looks the most like yours. That’s the thing about a clinical diagnosis – with the exception of two types (IV and one of the exceptionally rare ones you can use a urine test on), it’s just a question of what your case looks the most like. I’m on the border between classical and hypermobility type; they decided to call it classical because of much my EDS manifests in my organs.
If you have any questions for me, please feel free to put up comments here or email me at brilliantmindbrokenbody at gmail dot com.
~Kali