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Scheherazade in Blue Jeans
freelance alchemist
13th-Nov-2014 03:49 pm
Jewish Mutant
Enough details are emerging around the edges that it pretty much makes no difference whether I say what I have or not at this point, so: my mutation is on COL3A1. That's Ehlers-Danlos Syndrome type IV, vascular, aka vEDS, which is what I'll be referring to it as because otherwise that's a lot to type. La la la more links.

We were already looking at EDS due to the hypermobility, but in addition to fitting so many of my physical oddities, vEDS also explains why I don't have other common EDS symptoms, like the stretchy skin, and why my hypermobility is not as extreme as many EDS folks' - in vEDS, there's less of that. Instead, our blood vessels are stretchy/fragile.

So the Major Complication in vEDS is aortic dissection or aneurysm, which, if you're not feeling clicky today, basically = blood vessels go boom. This is why the median life expectancy is 48, because aortic dissection is so frequently fatal.

And that is why having this data is a GOOD THING! Because aortic dissection is pretty low on the differential diagnosis for the ER docs, re: otherwise-healthy-looking patient presenting with severe pain. If I or whoever I'm with can tell them "look for this first," that can potentially buy enough time to save my life. There are advances in medical science. Fewer people die of aortic dissections now than did ten years ago.

80% of people with vEDS have had An Incident by age 40. I'm not kidding when I said that going on beta blockers in 2005 almost certainly saved my life. It's funny, with all the problems with my brain and guts, we never looked at my cardiovascular system again after I got an accurate-but-incomplete diagnosis and got on a medication that worked right off the bat.

If you want to read through the links, you'll see the lists of things I'm not allowed to do, which I won't reproduce here; just: if I say "I can't, doctor's orders," please believe me.

The further testing I'll be getting is full-body imaging, to see if I have any blood vessels that look especially fragile. If I do, we may opt to do some surgical intervention, replacing bits with artificial blood vessels or stents. I say "may" because surgery is very risky for people with vEDS, so it may not improve my prognosis to do surgery. Depends on how strong my cardiovascular system is overall.

So that's where stuff is.
13th-Nov-2014 08:59 pm (UTC)
It's good that you know what to look out for. I hope it all works out well.

Thinking of you. Take care.
13th-Nov-2014 09:04 pm (UTC)
Interesting. I also have a tentative EDS diagnosis, which since the treatment is "treat the symptoms" we have not bothered with genetic testing for (also there is only 1 doctor in Orlando who orders genetic testing for adults), but that sure explains most of my symptomology my whole life.
13th-Nov-2014 09:06 pm (UTC)
Yeah, there's so much "...oh!" here. Stuff I never thought had anything to do with anything else, like the pneumothorax when I was 8 and in the hospital with pneumonia; we just though "wow, super-bad pneumonia!", but childhood pneumothorax is right there on that list.
13th-Nov-2014 09:16 pm (UTC)
Wishing you luck with the testing and treatment. Hugs and hope from the left coast.

I've also sent a message to a friend on here dealing with similar stuff (not vEDS but many of the same problems from their special EDS symptomology) asking if they might have a bit of time to chat with you. So if you hear from someone you don't know but mentions I sent them, you'll know why. I've known them for ages, but they keep lj locked down so I sent them a link to this post rather than the other way around.
13th-Nov-2014 09:17 pm (UTC)
Oy. So, basically, your heart has a chance to go splodey. That's not good.

What's the story with Elayna? I note that it's a heritable disease. Does she have any symptoms that might be worrisome?
13th-Nov-2014 09:18 pm (UTC)
She does. She has the list of stuff not to do, and she'll be meeting with the doctor during her winter break.
13th-Nov-2014 09:34 pm (UTC)
When you started describing things, I *thought* this was what you may have been talking about, but I didn't want to even ask because - well, you didn't want to talk about it.
It does sound scary. You need to stick around a good long while.
13th-Nov-2014 10:28 pm (UTC)
That is certainly scarey stuff. On the other hand, now you know. And GI Joe says . . . ya know, fuck GI Joe. You know about it, you can face it and fight it. As you say, things are getting better on the medical front.

We'll laugh about this when we're 80.
14th-Nov-2014 01:12 pm (UTC)
Yeah but I *totally* need to meet you sooner than that! :P
(Deleted comment)
14th-Nov-2014 12:50 am (UTC)
10 years from now, they might have a cure for dying of old age even. [seriously!] So you never know.
13th-Nov-2014 11:17 pm (UTC)
That really sounds scary, but it's definitely something you want to know. Here's hoping that the subject never comes up in an emergency context.
14th-Nov-2014 12:40 am (UTC)
I'm not entirely sure what to say, but I'm thinking good thoughts your way.
14th-Nov-2014 12:54 am (UTC)
Crap... sympathy offered. I have not-very-bad version of EDS type 3 [basically messed up joints and vertebral discs] which I thought was bad enough... I'm not sure I can process the idea of living knowing your heart and/or brain might suddenly just go boom!

Here's hoping you live long enough they can find a cure or patch for that.
14th-Nov-2014 01:23 am (UTC)
As scary and shitty as this all is, at least you KNOW what's going on now, so you can be as proactive as possible, and, if (God forbid) Elayna has this as well, she understands how to manage it, while the rest of us keep our fingers crossed that medical science catches up. (It's truly amazing to see how things have changed over just the past 10 years, never mind the past 50+.) It's also good to know that, in the event that you suddenly have severe head or chest pain, your ass needs to be hauled to the nearest hospital ASAP and the doctors told specifically what to look for. Clearly you're pretty damn tough, though; after all, you survived childbirth and made it this far *knock knock knock* , so I'm cautiously optimistic for your future. *hugs if you'd like them*
14th-Nov-2014 01:14 pm (UTC)
Yes to all of this! Having this data is important and potentially life-saving.
14th-Nov-2014 02:56 am (UTC)

Scary, but at least now you know and can be well-prepared.
14th-Nov-2014 06:22 am (UTC)
I sincerely hope that you outlive that median by decades.
15th-Nov-2014 04:42 pm (UTC)
Thats exactly what I was thinking.
14th-Nov-2014 06:40 am (UTC)
Much love for the new icon! (Or maybe just the new to me icon?) That's awesome.
14th-Nov-2014 01:15 pm (UTC)
I made it when I first knew I was getting sequenced. It seemed appropriate. :)
14th-Nov-2014 05:58 pm (UTC)
Might I suggest some sort of medical alert bracelet or pendant?

I'm pretty much panicked right now, not only on your behalf (a world without you in it is Not Okay) but also for reasons closer to home - I don't know if you recall, but both A. and both of our kids have EDS. I don't think it's vEDS, but I'm not sure. I've bounced back to the urgency and concern that I had when they were first diagnosed and wondering "Have I gotten careless? Complacent? Neglectful?" I've got a renewed sense of urgency now, so thank you for that, I suppose.

No, seriously, thank you. I'm hoping to learn as much as I can from you about this (not in a "teach me" sort of way, but just from absorbing what you share as you go about your life) and I'm impressed as hell with the way you're handling this. *hugs*
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