Well, I've seen quite a few doctors (maybe 20 to 30 in 5 different states) and a few geneticists. None have actually said anything much or they just reffered me to another Dr, seeing them was another repeat. The better ones would compile all of my problems and send that to specialists and attempt to help. My PM Dr really goes above and beyond our PM goals to help figure out what I might have and what could possibly be done to make me more comfortable.
To start, there is something wrong with all of my bones and joints. They don't connect to eachother the way they should and are very thin. Here's an overview of what's wrong:
My toes were in a hammertoe configuration (and were surgically straightened 5 toes at a time in 2001 and 2002). Both of my feet have vertical tali (the specialist seemed to concentrate on the tali since it was all he really knew about) with the right being much more severe than the left. My left ankle has a huge piece (I keep forgetting the name) of nectrotic bone that tends to get painful and swell up from time to time. When the left is swollen the right usually mirrors it, but w/out pain. That has been looked at as RSD, but I have never injured myself unless "the strain of walking" is sufficient to cause that. I don't have other RSD symptoms besides the swelling and pain. I do have osteoarthritis & severe osteoperosis in both feet too. When I walk, only my talus touches the ground - the rest of the foot doesn't unless I wear my special orthotics or Birkenstocks - I'm so glad I found them, otherwise I would destroy a normal pair of shoes in a month. I bought my first pair of Birkies in 1998 and they're still going strong
Next up would be my knees - both have osteoarthritis and don't bend or straighten all the way. My right knee is the worse of the pair. On my left knee I have what looks like bursitis cause it is very swollen and is much larger than my knee overall (picture a softball sized blob latched into my knee), but the swollen area does not hurt. I have never been one to kneel, cause I really can't and noticed the swelling one day in August of 2003 and it has been there ever since. No one wants to try draining it. Both knees crack and pop with the slightest of movements and tend to hurt when I walk or when I bend them. Fortunately, both are still osteopenic. My right knee also has a piece of cartilage stuck under my kneecap.
My hips are really bad. They have a very limited range of movement, like everything else and are severely osteoarthritic with severe osteoperosis (I'll add my Dexa scores in an update - I can't remember right now). When I walk I tend to lean forward at the hip. I avoid running and really need to watch myself when excercising so that I don't pull muscles in my hips and lower back and thighs. I constantly have fluid in my hip sockets further limiting my movement and causing pain. Lately my right hip has been extremely painful and stiff. It seems like it will stiffen up when it's expected, like if I don't move it around or when I've been sleeping in the same positon for too long, but it also hurts and stiffens when I'm active or if I'm working out and I have to stop immediately and massage my hip for 5-10 minutes for it to clear up.
My back is where a lot of problems reside, but this is the main area where no one has been able to figure out why or what is causing it. My entire spinal cord is fused naturally. There's the scoliosis with a compensatory curve in the lumbar section leading up to my C spine, where the natural fusion somehow unfused and 2 disks slipped. I had that surgically re-fused in 2002 because my Neurosurgeon was sure that they were pressing on my spinal cord and was concerned about my overall lack of spinal fluid. I don't know if the fusion did anything to my spinal fluid, but I'm do for another series of full body MRI's in August, so I will find out then. Luckily, against the odds (they were not in my favor), the fusion was a success and it took, reducing most of my neck pain - I had actually gone to the surgeon because of the horrendus pain. Now I do get a lot of pain in my neck that seems to radiate into my left shoulder blade and then into the base of my skull, but it's not as bad as it was pre-fusion. Percocet tends to make it worse and makes me nauseated, so I cannot take it when my neck hurts. My neck also does not sit on the top of my spine the right way - it leans down-forward. My spine and neck are not curved the way they should be - they're almost straight, aside from the scoliosis. I remember when I worked at a health center and got to take a test X-Ray on the new machine. All of the doctors gathered around to see my neck! I can't turn to the right very far, but I can turn to the left better now than I could pre-fusion. Moving my head to either side has to be done slowly or else my neck will pop or crack and that tends to make it hurt a lot. It's one of the reasons why I don't drive. I also wear a back brace, but it causes my neck to hurt when my spine is pushed into a "proper" alignment, so I have to limit how often I use it.
In the same section, my shoulders radiate inward and my arms are very limited in movement. I can't straighten my elbows all the way, nor can I bend them in all the way. It tends to feel like a bone in my right elbow "came loose" and is getting stuck inside it somewhere and is the cause of the pain and me not being able to bend it. X-Rays show nothing like that, but they do show that my bones don't seem to connect the right way. Epephyseal displasia of some sort? My right elbow also tends to swell and get painful from time to time, just like my ankle, but there is no nectrotic bone. My wrists reveal that they can't bend backwards, only forwards, very deeply forwards, but not all the way. My fingers have camptodactyly caused by irregularly shaped bones. They were surgically altered in 99' and 2000' one set at a time, although they're not straight nor are they exactly moveable. I've got very limited movement in them, save for my left thumb - it's the only one that looks 98% normal! Half of them are in very bad positions while the other half are in very good positions, but they're spread throughout both hands. I type with three fingers. My left thumb popped out of its socket when I was 12 or so. It was never corrected either because most doctors didn't feel it was worth it or were afraid to mess with it unless it needed to be messed with.
My dental health is good overall, but my teeth roots are very short. I didn't have braces because everyone was afraid they would pull my teeth out. I see my dentist for a teeth cleaning session every 3-4 months just to be on the safe side.
Aside from the bone disease is asthma. My chest is very small, so my lung capacity is not that good. I tend to rely on an inhaler constantly, but am lucky that I only get attacks very rarely. When I do get them, they're usually very severe, but tend to happen every 10 years. My last one was in 2004 and I ended up staying in the hospital for 2 weeks cause of Pneumonia.
I've also been tested for Osteogenesis Imperfecta, but do not have it. I noted my dislocated thumb because it didn't just 'pop out', but I was playing catch with some friends and the ball hit my thumb, knocking it out of place. Something similar happened to my little sister and she ended up breaking her hand (and her arm and forearm). I've never broken a bone, even after some rough falls from my bike when I was younger. Once I dropped a 3 pound can onto my foot and it hit my little toe. We were sure I broke it, but it turned out that it was only bruised, which seems to be odd because everyone was always afraid that minor trauma would break my very thin bones. I don't have any skin problems either, nor do I have dry eyes or a dry mouth (other than as an occasional side effect of Morphine). My own research has opened a few different diseases, but unless I can pick and choose from certain symptoms, they rarely fit as a whole.
I don't have any muscle issues besides pulling them often. They're not deteriorating or withering away. In my heart, my pericardium is enlarged (maybe a bit swollen) and has too much fluid. I have assorted chest pains that may or may not be heart related - the most common pain feels like someone is pulling my ribs on my right ribcage out and then is pushing them back in again.
I hope I didn't leave anything out and I hope I was able to answer your questions. If not I'll try to clarify some more. I'm not wholly sure on a lot of it myself. Most doctors tend to look me in the eye and apologise, then say "I don't know".
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