June 10, 2013

And the winner is...........? Elhers-Danlos Syndrome

It's been many months since I blogged.  I can pretty much put a cap on it now.  I was referred to a geneticist in Cambridge Mass.  His name is Jeff Milunsky MD.  I went to his office in late March for an exhaustive exam.  They checked every square inch of me.  They took a very detailed exam of my family tree and all the major and minor symptoms from both sides of my family. They took blood.  My insurance would not cover some of the tests (but that's another story).  Anyway, the Doctor feels I have symptoms from two different types of EDS (Elher's Danlos Syndrome). Type 1 and Type 2.  Based on my mom and dad's history and symptoms they both must also have EDS, just different types..  I mentioned this in another post a few moths back.  There is no cure and my personal treatment options are slim because of my drug sensitivities.  However, it puts a close to what seemed like the longest, never ending chapter of my life.  This may or may not help me but it certainly will help my children.  The condition has a 50% chance of passing to offspring. That explains a lot.  I am taking both of my girls in September to be evaluated.  Perhaps with an early diagnosis, they will be spared the pain and anguish I had to endure trying to convince doctors that there was something legitimately wrong with me. Both my girls have quite of few symptoms, although some are  different from my own.  I have noticed over the past year I have developed more issues with my joints. I surmise Father Time has a little something to do with it. I went to a Physical therapist and found out that the joints were subluxing. That simply means that they partially dislocate.  This causes a pain much like a tendonitis.  I am trying to learn how to put them back into place. The trial and era can be brutal. Once the joint gets put back in place, a massive inflammatory process begins.  This knocks my socks off.  Then roughly 24-48 hours later, my wrist or ankle or shoulder feel normal again.  The problem is that each day I awake with something different out of alignment.  It's annoying and tiring but I am going to have to learn how to deal with this.

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