Off to the specialist clinic

So, today is the day we find out 'for sure' (ish) if Mr B has the same connective tissue disorder I have ("joint hypermobility syndrome" - the minor, low skin involvement version of Ehlers Danlos Hypermobility Form. It is sometimes called Benign Hypermobility Syndrome, but that's been questioned since if you're living with chronic pain and dislocations, benign kind of doesn't apply).

My case is borderline - I bruise a bit easily, my hips slip out of their sockets randomly, my knees are a total wreck and have been since I was nine years old, I have asthma, I have random pain in all my extremity joints (feet, ankles, knees, hips, fingers, wrists, elbows, shoulders), my spine subluxates severely at times but chiropractic makes it worse, I have reflux, and I'm prone to tendinitis, and I have some sensory sensitivity, though I deal with that pretty well. All stuff I can deal with, have dealt with all my life. I skipped the heart function issues, TMJ, most chronic pain conditions, and a few other items, and I mainly have the ache-level pain, not the sweating-and-crying, can't-get-out-of-bed level pain. I can deal.

Mr B's case is just a bit worse in some areas, better in others. He bruises like crazy, and they take a long time to go from pink-red to purple, and longer to heal. Scrapes ooze for a long time before healing. He's prone to cellulitis (skin infections) where his skin cracks and splits, mainly around fingernails and toenails. He has no known reflux, but the motility issue in the intestines makes the Fructose Malabsorption symptoms much worse. Like most boys with this disorder, he's not overly bendy or loose in the joints, though he can rotate his feet way farther to the back than seems rational. He has the sensory issues, the articulation delay, the slow development of strength and coordination (though he is quite strong, it takes extra repetitions to develop to full strength). I'll find out today (maybe) what else ties in.

None of it is life threatening. My sisters and I pretty much rolled right along, shaking our legs to get the knee to line up again properly, learning our limits by crossing them repeatedly. And two of us carry some major damage from doing so, too. Our goal is to find out what we can do to help, so the kids don't end up with the same degree of issues later in life that we've got.

All that said, we don't have a diagnosis yet. My own diagnosis was so borderline that it doesn't really qualify, though the diagnostic process has improved vastly in the last decade, since my own round with the specialists. Still no direct diagnostic tests - the tissue biopsy and genotyping only exist for a few of the forms of Ehlers Danlos, none of which are what we have. There's a few blood tests that may help indicate severity for some forms, too, but I don't know if they're used for this form at all.

It's weird to be hoping for a positive diagnosis, maybe. But I am. I'm hoping they say, yes, definitely a case. Then I can go forward with PT, OT, exercises, EIPs for school (gym especially), appropriate limitations, guidelines, direction, devices (the right kind of bed pad can make a world of difference, for example, but they're gastly expensive). I can do that with maybe even getting insurance to pay for some of it, too. That's why we pay premiums, yes?

Having a definitive diagnosis will also allow me to finish up the letter to the former doctors, not just for vindication of my own intuition (you said nothing was wrong, and you were incorrect), but also for education - a positive purpose is more useful. I want them to know what they're looking at the next time it comes in, so it doesn't take years to figure it out. I want them to know what this particular zebra looks like, so when they're looking for horses, they can identify that it might not be one, and instead of saying 'I didn't hear hoofbeats at all' they can say 'I wonder if that's a zebra'.

I hate being in limbo, and it has been a long time in limbo. With Mr B and the Fructose Malabsorption diagnosis, it was a year and a half in limbo, not knowing if I might maybe be taking the right action for the wrong reason, or the wrong action entirely, because so many syndromes and disorders have similar symptoms - but utterly different causes. Doing the right thing for the wrong reason isn't so bad, but if I don't know what's really going wrong, I can't choose the most effective path. I want to know, be sure, be told, Yes, This Is It. We have the FM diagnosis, but that's a secondary condition. I want the underlying condition, the thing that ties all the issues together, so that there is really only one thing 'wrong' (even if it has fifteen manifestations) and not fifteen different things.

There's something maternal about that desire, too - I hate feeling like my kids have a dozen different things about their bodies that don't work, or work partially, or work sometimes. I'd like to say 'my kids have this one thing that doesn't work right' - just one. Since it comes down my side, I'd particularly like to consign the feeling that it is my fault into a smaller corner. I'd rather have passed on one erroneous gene than a dozen. Strange that I pick up blame on that, since genetics aren't exactly my fault. And I had no idea that the disorder I had was anything like a major issue. I grew up just being the way I was, and coping. It was my body, it always had been. As a parent, though, there's a sense of responsibility for the bodies they were born with. I don't know why a diagnosis would make it easier for me to convert lingering guilt to regret, but there it is. (I suspect the huge deal with the genetic counseling both with Mr G and Misses M and R - first due to the collagen issue, later due to age - didn't help much. There's a lot of implied, 'you need to know, and choose, and if you choose wrong based on your own selfish desires, it is your own damn fault that your child will suffer.')

And knowing myself, I also know I just plain hate not knowing things. Sigh. Life doesn't tell you what's going on, though, so I get used to not knowing. I just don't enjoy it much.

Anyway, here's hoping that today, we get some answers. If the answer is what I expect, it will also mean answers for Miss M and Miss R, and maybe a little for Mr G (who shows very few symptoms/signs, and may not even have it at all). It will mean more answers for me, and possibly even for one or two of the cousins, who have physical symptoms that relate, but no details or diagnosis either. It will mean not having to figure it out all by myself, again, but having resources and experts to point me in the right direction and give me specific instructions based on a depth of knowledge I can't invent or glean from Google Scholar.

Fingers crossed.

Comments

[Marita]

Good luck today. I hope you get some answers.