True Detective: Mast cell edition

I was diagnosed with rheumatoid arthritis several years ago.  It was an early diagnosis, in response to swollen joints, pain in my hands and feet, strange rashes and transient fevers.  My labs were unremarkable; at the time of my diagnosis, I wasn’t even positive for Rheumatoid Factor (RF), the autoimmune marker associated with RA.  “She doesn’t have the right lab picture, but she has the right story,” the rheumatologist told his student.  I rolled my eyes.  (This rheumatologist later made my list of least favorite people.)  RA was first unsupported diagnosis.

Around the same time, I was also diagnosed with a primary immunodeficiency.  I never had it, but at the time I was feeling pretty miserable and it made some sense.  I had very low IgA, low to low normal IgG, mediocre response to vaccination.  It didn’t seem impossible, and my immunology game wasn’t what it is today.  They started various treatments and added another poorly supported diagnosis to my chart. 

In addition to this immunodeficiency, I also had high IgE and huge RAST values for several IgE allergies, including dust mites and cats.  This was unsurprising, but problematic.  Because of the blood tests, they skin tested me, handing me a list of improbably allergies.  Six months later, they did another set of skin tests.  I had a completely different set of “allergies.”

Once I started losing my hearing and balance, I knew this was not due to an immunodeficiency and some allergies and RA.  I made an appointment with my immunologist, who worked north of Boston and was not affiliated with any teaching hospitals.  At this point, I knew something else was going on.  I was being aggressively treated for all my diagnoses and getting consistently worse.  My immunologist told me he had no idea what was wrong with me and basically hurried me out of his office.  He told me I needed to be seen at Brigham and Women’s by the immunology group.

What I didn’t know at the time was that this immunologist was being investigated for diagnosing primary immunodeficiencies two standard deviations from the known frequency of occurrence.  For non-scientists, that this means that it is almost statistically impossible for everyone he diagnosed to actually have a primary immunodeficiency.  All of his patients were being sent to the Brigham to be evaluated en masse, though none of us were aware. 

The years of inappropriate treatment and carrying around this particular diagnosis caused me a lot of trouble.  A lot.  Some of my symptoms improved with the treatment due to being massed by various therapies.  It meant that by the time I was being seen by an immunologist who was actually interested in helping me get better, it was unclear what was a symptom, what was a side effect, and what was a progression.  Most importantly, it was unclear what disease I actually had.  It took years to figure out that I had mast cell disease.

When I was first diagnosed with mast cell disease, I was told that it was the primary cause of all of my symptoms.  I had acquired a mixed connective tissue disease diagnosis years earlier, with features of RA and lupus, and I was told to stop medication for that, as those symptoms were caused by the mast cell disease.  I stopped immunotherapy for MCTD for almost two years and by last fall, I could barely walk. 

“You have three separate things happening,” I was told by one of the world’s foremost mast cell specialists. “You have mast cell disease.  You have allergies.  And you have a separate autoimmune issue that is also primary.  It is not secondary to your mast cell disease.”  I knew she was right.  But I also knew that MCTD did not cover all of my joint and muscle symptoms.  I knew, yet again, that there was something else going on.  I have since learned that Ehlers Danlos is to blame for the rest of my joint issues.  But it’s still not the whole story.

In the fall of 2011, I saw a hematologist.  He read my various reports, including the damning blood smears done both while I was reacting and while I was not.  “Your red cells on this slide are lysed,” he said slowly.  My white blood cells were also misshapen.  “You have hemolytic anemia,” he finished.

For as long as I have had mast cell disease, I have been told that my mast cell disease and my autoimmune diseases irritate each other, but that I should be able to control some of my autoimmune symptoms by controlling my mast cell disease.  I was told that the hemolytic anemia was triggered by anaphylaxis and not the other way around.

Earlier this year, when I was in the hospital, I arrived with a low red count and it continued to drop for a few days.  My labs kept needing to be redone due to hemolysis. 

My red count and iron are persistently low.  I have this aberrantly high white count that no one can place.  I have wonky complement, weird LDH levels, and a million points of data that I am tired of analyzing over and over.

Because what if my mast cell disease isn’t triggering the hemolysis – what if the hemolytic anemia is triggering anaphylaxis?  What if the constant hemolysis is causing this high white count due to my body’s reflexive activation of bone marrow to counter the low red count?  What if?  What if?

I have made an appointment to see one of the nation’s foremost mast cell hematologist/oncologists.  I need to figure out if my mast cell disease is the cause of my hematologic abnormalities or if it’s something else. 

I am grateful for my intellect, but sometimes it is a curse.  I know so much detail about some things that it further complicates an already obscured situation.  I cannot stop trying to figure out the sequence of events in my body, even though I’ll probably never know exactly what is going on.  I cannot help but feel if I could figure out the trigger at the top, that I could settle everything below it.

The thing you don’t expect about having rare diseases is the endless detective work.  I live every day in this unsolvable puzzle, compulsively moving the pieces around.