Monday, January 5, 2015

New Year's Update

So, a great deal has happened since I wrote you last; I'll try and organize everything in a semi-coherent fashion.

  • I GOT DIAGNOSED!!!! I have hypermobility-type/type 3 Ehlers-Danlos Syndrome, a rare genetic disorder that means my body doesn't make/arrange collagen correctly. That explains literally all of my physical symptoms. (I'll go into more detail about this below.)
  • Edit: After talking with the specialist, mentioned below, we're pretty sure that I have joint hypermobility syndrome, which is basically EDS-H but without some of the side stuff.
  • I'm getting treated! I have an appointment with a research university's rheumatology group - probably the best specialists in this part of the country - and I suspect that someone there will have experience treating EDS. I'm hoping that we can go from there to physical therapy and pain management and sleep therapy and really start getting my life back on track!
  • I talked with my parents and my psychologist about my PTSD, confirmed that's what it is, and came up with some things we can do to address that. Mostly it's just having to disassociate certain stimuli with the panicked response over time, but there are some things we can simply avoid which will make (and have made!) my visits home far less stressful.
  • I talked with my cousin Jess, who has gone through some roughly similar stuff, and got her contact info to continue talking with her. It's interesting to see what we've both gone through and how it's similar, as well as how it's different, but most of all it's such a relief to speak with someone who actually understands what this sort of thing is like, instead of trying to explain it to others who only sort of "get it".
  • The fellow who had been living with me moved out, so I actually have my whole apartment to myself! This is a good thing - I needed him here for a while, but I've definitely reached the point that I'm ready for my own place for realsies, and now I get to have that!

So, I GOT DIAGNOSED!!!! In a rather unorthodox fashion, too.

I spend a lot of time on a website called reddit, including the AskReddit section. For those unfamiliar with that, it's basically a place where you can ask a question, as specific or as broad as you like, and people from around the Internet will come and answer it. Questions have ranged from "If you had a million dollars, what would you not buy?" to "What's the worst thing you remember about elementary school?" and beyond.

One day, someone asked "What misconception would you like to clear up?" and I decided to post about invisible disabilities and how you can't (fairly) judge folks who use handicap parking spaces by their appearance (that post is here, if you'd like to read it). Eventually, someone asked me to talk about my disability, so I posted about a page describing my symptoms. This got a lot of attention, and several thousand people wound up reading it.

Pretty quickly, I started getting replies and direct messages about that - from people who have Ehlers-Danlos Syndrome, from med students studying it, and one from a rheumatologist who treats a great deal of it, saying that my symptoms sound very much like hypermobility EDS. After the first one or two suggestions, I thanked the folks who mentioned it, and went to look into it, not expecting much - people often have suggestions of what I might have, and rarely are they that similar to what I experience, but it's still worth checking.

And my jaw dropped. The symptoms of EDS matched my symptoms almost exactly - joints that bend and stretch farther than normal, chronic musculoskeletal pain, frequent sprains and dislocations, and some things that I'd never associated with my "joint problem" (migranes, nearsightedness, lightheadedness/fainting upon suddenly standing). I managed to find the diagnostic criteria - what doctors use to determine whether or not you have a given condition or disease - and I definitely fulfill that, so I definitely have EDS. I did some more reading and found that doctors rarely diagnose it because it simply isn't covered much in med school; it's too rare and too little can be done for it to be worth covering.

I wound up printing some information on EDS (this and this) along with some things about my family history and my sleep schedule and going in to see my doctor. He looked through what I brought him and was just as floored as I had been. "Most people who come in and say they found what they have on the internet are completely wrong, but you're absolutely right on this." He also mentioned that the only thing he'd previously known about EDS was that it was "a genetic connective tissue disorder," which is why he hadn't even thought of it in the twelve+ years of treating me.

So, we wound up deciding to try and get into Vanderbilt again, now that we have a diagnosis, and he sent off some paperwork describing my condition and asking for their help, and a few weeks later... voila! I have an appointment with them later this month, and hopefully someone there has some experience treating this disease and will have a decent idea of what to do next. (It should involve sleep therapy, physical therapy, and some pain management, probably along with more testing to ensure it's not something else, and maybe seeing a geneticist.)

And thus, after seeing nigh on twenty different doctors and specialists for different aspects of this, I finally get an accurate diagnosis by talking about my symptoms on the internet. I basically accidentally crowdsourced my diagnosis. It's hilariously awesome, and very, very typical of my entire medical experience thus far (me fighting tooth and nail against what feels like the entire world to get what I know I need until finally some folks get on my side for a change).

Partially as a result of that, and partially just because of the natural progression of things, I'm finally doing better with my depression, anxiety, and (recently-diagnosed) PTSD. I've been able to go home several times over the last few months without having nearly as much stress, and I've been able to be up and doing things much more than what had come to be usual for me. (I was also able to fire a sleep doctor who just wasn't willing to take me seriously, though I got some excellent advice from him and started doing some bright-light therapy to help with normalizing my sleep schedule.)

So overall, doing much better than several months or years ago, and I'm hoping things will keep moving up and forward!