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
, 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.