Where to even begin?
I'm relieved. I'm not crazy. I was right.
I was right to keep pushing. To see a bigger picture. To know that something more was wrong, even if none of my doctors could piece it together. Not even when I handed them excellent clues and points of direction to look into.
I'm not angry at my doctors. They're specialists looking at their own pieces to the puzzle that is me.
I am relieved because I had every right to be concerned, worried and scared.
Progressive. I knew whatever it was going on was progressing and getting worse. But to hear that? I don't if my tears were from being terrified, being right, and/or not being a wimp.
I saw a geneticist. I saw it on his face, the moment when everything I was saying pointed to a diagnosis. Probably an hour in. After all the family history and all of my history. The weird medical stuff that happened over the years.
No one has had an answer. He did.
A connective tissue disorder. I always figured I had a form of EDS. I was incredibly close. Joint hypermobility syndrome.
13 pages on JHS it's by a doctor in DC. It's a long and short read. There's subtitles that give a good understanding of problems associated with JHS. The details are overwhelming. I've not experienced all of it, but very close.
I'll go in order. Chronic neck strain. Lower back pain. Sciatica. Disc problems (though I also have another genetic issue to blame for the disc issue, and by association, lower back pain). Neuropathic pain, which was the start of it all back in 5th grade. Unstable hips. Tendonitis. Chondromalacia. Costochondritis. TMJ. There's a mention of Fibromyalgia at least that one I've known about.
Issues with the entire Autonomic Nervous System. That's where it gets a little varied. Again only a few things are missing from the entirety. Problems with heart rate, blood flow, digestion, breathing, migraines, abdominal pain, adrenaline based anxiety, sleep issues, vaginal spasming (that one isn't a hard reach since everything else spasms whenever it pleases), and problems emptying my bladder fully-hence all the UTIs since I was a very little kid.
Everything physically going wrong with me is explained by this one disease. The simple points of symptoms sound god awful. They have been, are, and will continue to be. Progressive. It's not going to get better. I may slow the progression. I'm already on meds for some of this because my specialists were close. They were treating symptoms. That's all they can do for me, ever.
There's a whole list of things I should avoid. Things I should try to do. It's all there in that paper. I was also given a website for support and more information. There's more there. I wish I was kidding.
I've waited so long to write about this because there's so much to it. The sheer magnitude of symptoms and problems associated with this one syndrome is unreal. I have the benign version too. If I was diagnosed with Ehlers Danlos Syndrome, it would be the severe version. So I get off "easy." I really do, in all honesty. It could be so much worse. Think about that for a minute. All those issues listed? All that, more severe, more likely to develop major heart problems, more of everything. Just more.
So a breath of relief while also closing my eyes from the weight of it all. But I was right. So right. Validation. Over the next few months, I'll be informing all of my doctors about this diagnosis. Any time a new med gets mentioned, I'll have even more clearing to do with my doctors. Speaking of meds, apparently it's common for people with JHS to have more issues finding the right med or a med that doesn't cause further complications.
I'm not crazy. Okay, I am, but not about this. Even the geneticist made that joke because I had to mention the PTSD and depression. But this is real. It is a genetic problem. Even if no one sees it, I feel it every minute of every day. And now no doctor will ever have the right to dismiss anything as possibly psychiatric pain manifesting physically because they can't figure out what's wrong. I know what's wrong now and all the places it will manifest.