[mzdiagnosis]

Hello

I noticed that the disabilities and chronic conditions forum only had 174 threads and this one has 1700+ so... I thought it best to post here. Maybe I will link it to the other forum.

I am trying to promote awareness and education of connective tissue disorders. They are rare conditions individually, but as a group they can affect quite a lot of people. Because there isn't a huge amount of research the real extent at which connective tissue disorders (CTD's) affect the general population isn't known. All the CTD's have lists of criteria to diagnose by, but if a person has several items they might still have dysfunctional CT without "qualifying" as having an actual disorder. This means that there are a lot more people out there facing various maddening problems but without much by way or help or information.

I'm going to do what I can to bring some info here.

It's rough because the conditions are considered rare and so the average primary family doctor won't even consider them. My own experience is that doctor's seem to be expecting people like me to "look" a specific way and if you don't then they don't look at the other criteria. It took me 37 yrs to get dx'd.

CTD's are a spectrum of disorders - Ehlers danlos, marfans, and osteogenesis imperfecta are some but there are others that are considered CTD's as autoimmune disorders. The three i mention are genetic conditions and can have some pretty impressive associated problems.

The one I know most about is Ehlers, the one I have, naturally. I have been told I am "lucky" because I have the type three or hypermobility type, which is the least dangerous. I know I am lucky, because it means my veins aren't quite as likely to explode, but lucky seems like an odd term. I guess it's all relative.

For me, what it has meant is an extreme hyperflexibility of ALL my joints, including joints that are meant for shock absorption and not meant to be loose, like the sacroiliac joint. That has meant deterioration from dysfunctional movement of the primary weight-bearing joints. Basically, things slide around and things rub or pull in ways that our bodies were not designed to do. It can be amazingly painful.

Some people think flexible and they say wow, wish I could be like that. No, no you don't. When I stand up every tendon in my feet stretches out unnaturally and causes the load-bearing architecture of the foot to just be useless. I can walk but sometimes it's excruciating.

It has lead to spinal instability, including spondyliolysis L4/L5, a bulging disc, a herniated disc, S1 nerve impingement and instability of the atlo-axial ligament complex. I've sprained both ankles badly numerous times, dislocated fingers, ribs, etc. I'm prone to damage.

You'd think I'd have been listened to by doctors. You'd think that I'd be taken seriously but it was a long battle. Unless a person educates themselves and persists, it becomes grueling. You go in because of knee pain and the doctor orders xrays... by the time you get those the knee pain is gone and your shoulder is killing you. On and on it goes. You get treated like a hypochondriac until so many things are going wrong that they can't turn you away anymore.

You get handed to specialist after specialist until you get one who listens and figures it out and TADA - you finally have a dx! You feel like you won the lotto, a really, really CRAPPY lotto. You have a dx, you are being taken seriously but it means that something is not right in kansas.

There is too much to put in this first post... way too much. So I will be back to add symptoms, associated problems, how to get dx'd, and so on. It's a complicated thing but being informed will make it all a LOT easier. Sadly, we have to take the reigns in our own healthcare.

If you have EDS or marfans... you're not alone.