Monday, September 19, 2011

Ehlers Danlos Syndrome.

I have not really mention this disease much, but I received the diagnosis of EDS a little over a year after being diagnosed with RSD.
Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels.
A variety of gene mutations (changes) cause problems with collagen, the material that provides strength and structure to skin, bone, blood vessels, and internal organs.
The abnormal collagen leads to the symptoms associated with EDS. In some forms of the condition this can include rupture of internal organs or abnormal heart valves.
Symptoms of EDS include:
  • Double-jointedness
  • Easily damaged, bruised, and stretchy skin
  • Easy scarring and poor wound healing
  • Flat feet
  • Increased joint mobility, joints popping, early arthritis
  • Joint dislocation
  • Joint pain
  • Premature rupture of membranes during pregnancy
  • Very soft and velvety skin

    There is no specific cure for Ehlers-Danlos syndrome. Individual problems and symptoms are evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a doctor specializing in rehabilitation medicine is needed.
    Possible complications of Ehlers-Danlos syndrome include:
  • Chronic joint pain
  • Early-onset arthritis
  • Failure of surgical wounds to close (or stitches tear out)
  • Premature rupture of membranes during pregnancy
  • Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)
  • Rupture of a hollow organ such as the uterus or bowel (only in vascular EDS)
  • Rupture of the eyeball

    So now that I have covered what EDS is, now why did I bring this up? Other than to let people know about this disease to, I brought it up because, my mom had mentioned that maybe we should focus on trying to treat this disease because who knows what problems are related to which disease. So she said a doctor she talked to by email had suggested we find a hospital that has a pain program similar to those of RSD but not with the intensive PT, because that can make me worse, which makes since, so where do we go from here? Do we look for a hospital with a pain program for EDS, or do we continue to focus on RSD?
    I really believe most of my problems are related to RSD, not EDS, and actually reading more about EDS, I am not really even sure I feel confident about the diagnosis. Which that leads to another story, since the diagnosis some doctors feel this is not accurate, including the doctor I trust the most with my health, the doctor who diagnosed the RSD. So who is right? Do I even have EDS? I mean I match the hypermobility of course, I have frequent dislocations and subluxations but I dont bruise easily, my skin isnt soft and velvety, I dont scar easily, and my skin isnt the slightest bit stretchy and I cant do some of the weird flexible things people with EDS can do, although I can do some. So in all honesty I dont really think I even have Ehlers Danlos, maybe its just loose joints, like more doctors have said, than have said its EDS.
    So if it was up to me I would probably just be focusing on RSD, or the fact that maybe there is something they are missing? With my weird blood work and all my symptoms maybe there is something there missing?

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