I had my follow-up appointment this morning with my internist who specializes in immunodeficiencies.
I know that I shouldn't REALLY be surprised, since the result is very common, but there is some confusion and no real straightforward answers.
What my bloodwork shows is that my NK cells (natural killer cells) and my B cells are significantly deficient - the levels are at ZERO.
What could cause this?
1. Well, a medication that I am on (Methotrexate) suppresses the immune system a bit. BUT - if it is this medication that is causing the deficiency, then my T cells should have also been low, along with elevated liver enzyme levels, and it would suggest that my Methotrexate levels are far too high and near toxic. Those other levels were all in the normal range.
2. It COULD be lowered because of my IBD alone. BUT - if it's the IBD causing the deficiency, then my CRP levels should be high, and my IBD should be in a very bad flare. My CRP levels are in the normal range and my IBD has been relatively stable - no excess inflammation, no increase in ulceration. Even my IBD screening panel came back relatively normal in the last few months.
3. A Primary Immunodeficiency would make sense, although the infections that I am continuously battling (abscesses, skin infections, ear infections, etc...) are bacterial, and more PIDs present with more viral infections. The viral infections I HAVE had on a regular basis include Mono, cold or flu viruses, shingles, etc...) which are relatively minor in the PID world. Plus, if it is a genetic primary immunodeficiency, most individuals who are diagnosed with one usually do not live past the age of two. In fact, my doctor has not actually HAD a patient with a primary immunodeficiency because she is not a pediatrician. She also does not know how I could have 'developed' it, if that's actually what happened.
4. A specific NK Cell Deficiency. This sounds more on-the-money right? But then it doesn't explain why my B cells are also at zero, and could not explain the constant need of prophylactic antibiotic therapy to avoid even MORE infections.
So, in essence, I don't fit the mold of what an individual with any of the above issues should present like. Not to mention that my body's response to my vaccinations was in the (low) normal range.
I mean, the HAE prevents me from getting fevers from any infections, the constant antibiotic use could have an effect on my immunity, I am on MTX, I have several auto-immune and inflammatory conditions....
She is still leaning towards a Primary Immunodeficiency (likely Chronic Granulomatous Disease) or a specific NK Cell Deficiency disorder. She is still confused though... I mean.. Who wouldn't be?
My very first GI Specialist called me an "Enigma" at my very first appointment because of how odd and confusing my case was. Who knew that he would be SO accurate with his description?
So what's the plan?
- Repeat the tests (done today).
- Referral to an even more specialized physician in the area of immunodeficiency.
- And then possibly start me on prophylactic anti-viral therapy to go along with my anti-bacterial therapy.
Or put me in a bubble. You know, either one. If you choose the bubble, make sure that it's padded so that I can go play sports and go bobbing down the Bow River.
So now I wait for more bloodwork, an appointment with another specialist who will then order more bloodwork, and THEN maybe some results.
And in the meantime I get to maybe try a new therapy for the HAE to *hopefully* reduce some of the swelling, and TRYING to book this hysterectomy before my insides decide to protest for their own eviction in an emergency situation.
More tests. More doctors. More waiting. More confusion.
The life of a full-time patient :).