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27 December 2009 @ 06:01 pm
[Health] The Continuing Adventures of Alphabet Soup  
Ok, in the style of [info]jaylake and [info]calendula_witch I'm going to do a Have Some More Information post. We all have medical problems that someone else out there probably has too. We want more information, and the process of getting it isn't always easy because people don't talk about these sorts of things. So I'm going to once more go unto the breach and start talking about my most recent journey in the medical field.

Ok, so everyone who knows me off-line knows I am quite bendy. I've always been this way, and it has massive issues involved therewith. I've had four different doctors for four different sets of joints. I have had re-constructive surgery on both my ankles. I have arthritis in both my knees. My back has always hurt. I have TMJ in my jaw. Those are just the ones that I've had doctors for. Every other joint in my body hurts. I live in constant pain, and don't bother taking pain meds unless it's really bad.

For my ankles, my ligaments had become so loose they had come detached from my ankle and were bunched up down in my foot so they had to reattach them. It tightened things up nicely for about a year. Now? I have just as much flexibility in my ankles as before, just, the ligaments are still attached. I have major braces (prescribed) for both my ankles that I will occasionally still wear when I feel like I'm having a particularly 'unstable' sort of day.

My knees: They've hurt for a long time. Turns out in my right knee I have pretty noticeable arthritis, and my left knee is heading downhill too. The ligaments that hold the patella in place aren't sturdy enough, and so it wanders about as I walk, rubbing against both sides of the knee joint. Again, I have braces for both my knees. They support the patella and keep it where it's supposed to be, but I can't stand wearing the things unless my knees are really hurting. Which, unfortunately, is something that happens more and more in the winter. I need more sets of tights to wear under them, as that makes them more comfortable.

With my back, I've been fighting with the medical profession for a very long time. They think it's just my weight, and others think it's my breasts (I have an H cup), and the back doctor thinks it's just misalignment. I think it's a combination of all three, except at the lowest weight I've ever been as an adult I still had H cups and back pain. But, I'm still losing weight again because being heavy is depressing and doesn't help the pain. Also, as a side note, misalignment can be caused by your connective tissues not holding you in place properly.

As for my jaw, I mentioned the TMJ. Which, I might point out, is just the location of the problem (literally the temporomandibular joint). The cartilage in the joint has actually been pressed out of the joint itself, and thus my jaw is running bone on bone. My connective tissues are so loose my jaw pops out of joint, aka dislocates itself, with some regularity. To the point where my eyes cross with the pain, but I don't cry, whimper, etcetera any more. I just pop it back in and go on with what I was doing.

So. I've known this was all related for years and years. It was not conceivable to me that I would have all these joint issues without something being in common. I would try to tell each of the doctors, and they would wave it off so they could concentrate on their joint. I've been frustrated a lot as you might imagine. However, a couple weeks ago, a pastor of my acquaintance (not Keith) said 'Hey, I read an article that sounds like you.' She gave me the article (which I have since not been able to find) and my jaw dropped. This girl they were talking about sounded very much like me.

So I did some more research into what she had. Ehlers-Danlos Syndrome. "Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue). The collagen in connective tissue helps tissues to resist deformation (increases its elasticity)." (Wikipedia, while not accurate in everything, is still awesome for summaries occasionally)

Every picture they had to demonstrate the Hypermobility Type I stared at in shock. Seems I have textbook symptoms! My knees bend backwards, my thumb can nearly touch my arm, my elbows bend up, amongst other things. It's also genetic. Unfortunately, the Hypermobility Type is the hardest to find the markers for. That doesn't mean I'm not going to try.

The next step in this process will be finding a specialist, because that's what I need. Possibly an EDS specialist, possibly just a genetic disorder specialist. I'll be asking my primary care physician what he recommends, but at this point, that's the only thing I'll be looking to him for. I live near both Washington DC and Baltimore, so if you know of anyone who does that sort of thing, let me know.
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( 14 comments — Leave a comment )
fjm[info]fjm on December 28th, 2009 01:07 pm (UTC)
Over from [info]jaylake. I have celiac and I particularly recognise the "oh, let us deal with this pain" syndrome. Fifteen years of migraine drugs, and separate treatment for the joints and for the stomach, and the eczema and for the low blood pressure. The celiac turned out to be responsible for all of them. Sadly the joints are screwed, but there you go.
Lady A!: Dr Doom Cities Will Crumble[info]accioayla on December 28th, 2009 01:17 pm (UTC)
Hi there and welcome! I'm sorry it took so long for the medical profession to get around to finding the answer (or for you to find the answer yourself...). I think a big problem in the medical field is the narrowness. They treat the symptoms, but don't bother finding out the cause unless the symptoms are about to kill you right then. Ugh.
cypherindigo[info]cypherindigo on December 28th, 2009 01:50 pm (UTC)
From Jay Lake's LJ.

I can do that Thumb to the arm thingie, and occasionally when I take a step off a curb or just walking across the room it feels like the bones in my ankle have miss-aligned and I fall. Is this part of what you experience? Just curious.

I am living with Lupus and RA, so I do understand the frustration with doctors.

Thank you for sharing.
Lady A!: Dr Doom Cities Will Crumble[info]accioayla on December 28th, 2009 01:54 pm (UTC)
Yep! That ankle thing is part of what lead to the re-constructive surgery. The thing with me though, is that I'd fall and bounce pretty much right back up. No major damage was done, because my ligaments are just that loose, I bend instead of break. I finally went to the ankle doctor when I took a fall that my ankle still hurt two days later...
MG Ellington[info]xjenavivex on December 28th, 2009 02:16 pm (UTC)
occasionally when I take a step off a curb or just walking across the room it feels like the bones in my ankle have miss-aligned and I fall. - I do this.
Lady A!: Dr Doom Cities Will Crumble[info]accioayla on December 28th, 2009 06:15 pm (UTC)
Sometimes it's just a problem with that one ligament. And a Brostrom Procedure can take care of it. In my case though, I've gone back to how bad it was before the surgery.
MG Ellington[info]xjenavivex on December 28th, 2009 06:41 pm (UTC)
That is really scary.
MG Ellington[info]xjenavivex on December 28th, 2009 06:42 pm (UTC)
I've stopped wearing my high platform heels that I wore for ages. It is much harder to prevent the oncoming spill when your ankle buckles in them. It gives no warning. I can still wear my boots with the thick sides though. They give a good amount of support. I still wear my heels at home sometimes but that's it.
MG Ellington[info]xjenavivex on December 28th, 2009 02:17 pm (UTC)
over from Mr. Lake as well.

We've been searching for a cause for my son's chest pains for a long time. We've been through every specialist and in the meantime have had to just deal with it as best we can. Thank you for sharing this.

My knees have been bad since 5th grade.
Lady A!: Tell Me A Story[info]accioayla on December 28th, 2009 06:16 pm (UTC)
I'm very saddened to hear you've yet to find something to help your son. I hope that somewhere, someone will see something and go 'Hey, this sounds like your son' as someone did to me. What sort of chest pains?
MG Ellington[info]xjenavivex on December 28th, 2009 06:38 pm (UTC)
Pinches and discomforts
They travel, are not related to stress levels, and seem to be more related to exercise or the weather. I've long said it sounds like joint issues. My mom was convinced it was his heart. He's been thoroughly checked out there and it isn't that nor is is an upper GI thing.
Lady A!: Books R Love[info]accioayla on December 28th, 2009 09:25 pm (UTC)
It is very scary, considering I would have thought that the re-construction would have stuck. But if I have EDS, it would explain the re-elasticity. The collagen doesn't form correctly, and thus it just sort of... re-stretched.

I would seriously recommend going to see an ankle orthopaedic doctor. Tell them that your ankles are extremely unstable and you are worried about the damage caused to them by falls etcetera. You may need something more than just an ankle brace.

Also, you might want to see if EDS is a factor for your son. The Vascular Type of EDS can be life threatening. Take a look at the information out there on it and see if anything fits...
MG Ellington[info]xjenavivex on December 28th, 2009 09:28 pm (UTC)
We also are watching because we fear Marfans might be at play. He really needs to see a geneticist I think.
(Anonymous) on January 28th, 2010 02:28 am (UTC)
EDS
I recommend that you visit EDNF.org, the website of the Ehlers-Danlos National Foundation. There you will find Medical Resource Guides which you can share with your medical professionals. These publications will help to educate those doctors as to your condition and how to treat and manage your care. EDNF just completed a new publication which is being given to its membership and will then go on sale on February 1st. It provides a checklist for determining diagnosis in children and care in adults. It is an exceptional piece for everyone with EDS to have and to share with their doctor.
Good luck on this journey which many of us must follow. Our care will improve as we help educate those who care for us.
( 14 comments — Leave a comment )