Finally.. A Diagnosis.

     I had no clue what to expect when I walked into the rheumatologist's today, except she was going to try to add another medication to the list.  I was prepared to fight her on the point because I refused to take any more medication until I knew why I was taking it.  "Because I said so.  Because I'm the doctor." are not valid enough reasons. I want a diagnosis before I start anything else.  Well,  I got a 2 for 1 special today.  And then some.   She started by bringing up my history with steroids, and how I'm responding (kind of) to an anti-rheumatic medication.  I say kind of, because while it's working, it's not strong enough to bring down the severe inflammation and the pain.  She broaches the subject of complementary medications.  I abruptly stop her and explain that I understand her logic and how I want to feel better, but I do not want to start anything until I know what I'm being treated for, etc.  She briefly explains that she knows what she's treating me for--kind of.  "I'm not talking about treating me for an autoimmune disorder.  I want to know which one.  I want a name for this hell."  And that's when everything started feeling weird.
     I do have an autoimmune disorder.  A rather rare one.  An "orphan" one in fact.  It kind of doesn't have a name, but a diagnostic code.  It's lumped in under Mixed Connective Tissue Disorder.  And it's treated with either oral steroids (which I don't tolerate, so she won't even try) or immunosuppressant medications.  You know, the kind they give to patients after organ transplants?  Yeah.  That stuff.  I'm trying to pay attention to what she's telling me, but I find myself staring out her office window, mind racing, doing everything I can to hold it together.  I was prepared for just about every scenario but this one.  What the hell?  Then I realize she's staring at me waiting for me to ask questions about what she said.  I know she mentioned something about how some autoimmune diseases exist, but are so rare, that they don't have names.  The symptoms are clearly there, laboratory tests show that something is going on, physical exams clearly show something isn't right (fevers, swollen joints, swollen lymph nodes, etc.) that last for months to years, but diagnostic tests are inconclusive on all levels, except to show that an autoimmune disease exists, but not what it is.  In my case, I have 15 years of labs and other tests, but there aren't any other tests to run.  So what now?  Will this medication help me get better?  Will I get my life back?  What are the side effects? I have to have a few more blood tests to see which medication is the best fit for me.
     It will take a few months for the medication to start working, then hopefully I'll be able to start some kind of physical therapy program to prevent further joint damage and muscle atrophy.  But there are a million and one what ifs.  The pain I'm in now may ease some, or may never ease at all.  There's no way to tell if it's from dealing with excessive inflammation for so long, or if it's the result of damage and if that damage is permanent.  And, like every other autoimmune disease, there is no cure.  I was prepared for that one.  But what I wasn't prepared for was some rare, orphan disease that very little is known about that was caught 15 years later.  And I have to absorb all of this until I get the test results back and find out which medication I start.  Then I start fighting this barely known orphan.  By no means am I pessimistic, but I am realistic.  Progress will be slow at times, but there will be progress.  There isn't much research out there about this, none of it positive, most of it is about as vague as it gets, so I'm going into this about as blind as you can going into a fight, but it could be a lot worse.  This orphan disease can throw all it wants at me, slam me down to the ground all it wants, but I'll just keep getting back up.  Some times might take longer than others, but I'll get back up.  I do, however, have one warning:  if you're not going to stand behind me, walk away now; I will take you out along the way.