Today I had my appointment with the immunodeficiency specialist.
I am thrilled that she was able to get me in so soon in the new year.
The reason that I have been sent to her is because of several symptoms and pains and vomiting fits and various infections that I have had throughout the years - all of which do not have definitive source or reason. There IS a possibility that the recently diagnosed Hereditary Angioedema could explain most of it, but there are a few warning bells going off in the mind of my Internal Specialist that encouraged him to refer me.
At first she prefaced the entire appointment by mentioning that she may have to work in coordination with a Hematologist in the city as well, and may need me to see her as well just because of how complicated everything is.
We went through a quick history, she did a quick physical examination, and then made a plan for some diagnostic investigations.
What she wants to try and figure out is whether the certain symptoms with 'mystery' causes are caused by secondary auto-immune diseases and the loss of proteins and functioning t-cells and b-cells through the symptoms of Crohn's Disease, Sjögren's, even the Hashimoto's, OR whether all of these bacterial infections and symptoms are ACTUALLY the result of a genetic defect that I have had all my life that would play a part in a possible reason why I developed all of these various auto-immune diseases in the first place.
So what's the plan?
Luckily, the first part is simple. It's more bloodwork.
She is ordering the simple all-inclusive tests like CBC, electrolytes, ALT, albumin, my complement levels again, my immunoglobulins again, and my antibodies for tetanus, diphtheria, and pneumococcal serology.
Added onto that, I have to get my blood taken for an immunodeficiency screening panel, a mitogen/antigen stimulation assay, neutrophil function - oxidative burst, and leukocyte adhesion deficiency.
Basically, she is testing for antibodies that I have, and seeing what my 'baseline' would be for fighting off any kind of infections and inflammation. Trying to see if there is an obvious deficiency of the main levels of the way my body fights off infection.
Then, once the bloodwork has been done, I am supposed to get three vaccinations. Tetanus, diphtheria, and pneumococcal - the diagnostic, 23 isotype, polysaccharide pneumo-vax.
8 weeks after that, she wants more bloodwork re-checking the titres and antibodies of those three, as well as see exactly what my bloodwork shows on a microbiological level for what it would do once exposed to those infections.
Once that final bloodwork is taken, I have to give it another month before the results come back, because they are so specialized. She may call and book more testing if they get certain results back.
What I found the most interesting is that neutrophils actually are partially involved in the body's fight against infection and inflammation.
When I was recently going through my medical charts that I had ordered from Netcare, my neutrophils are on my standing order monthly bloodwork, and they are very RARELY in the normal range. I had no idea what that meant and had presumed that it was simply a measure that perhaps meant nothing. Today I found out that there is actually a genetic disorder specifically targeting the neutrophils that could cause defects in my body's fight response. Go figure!
Anyways.
So she kind of didn't know where to start. She seems very fascinated but also very confused. The plan is simply to find out at the cellular level how my body fights infection and inflammation, investigate it further, and try and determine whether there is an issue in my genetics or whether it is an issue that is secondary to all of the illnesses and medications and pain and inflammation that I am already vastly exposed to.
I don't know about anyone reading all of this - but these appointments usually create major mental exhaustion. I came home and slept for three hours.
So between 4-6 months before my next appointment with her. Time to be patient.
Ha ha. "Patient".
Punny.