Mutation

[shadesong]

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 linksWe were already looking at

Comments

[harkalark]

It's good that you know what to look out for. I hope it all works out well.

Thinking of you. Take care.

[jcbemis]

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.

[shadesong]

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.

[alumiere]

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.

[xiphias]

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?

[shadesong]

She does. She has the list of stuff not to do, and she'll be meeting with the doctor during her winter break.

[xiphias]

Crap.

[shadesong]

Yep.

I'm sort of thinking around that for right now. Next step is the imaging. That's where my focus is.

[whitecrow0]

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.