My medical story is long, convoluted and complicated. I have multiple disorders linked to both genetic and immune dysregulation along with secondary disorders and complications. I am in the high risk category of immune dysregulation, in that I have had cancer, I have at least two autoimmune diseases and I have an immunodeficiency. What this means is that I may continue to develop other cancers, other autoimmune diseases and a condition called SCID as long as whatever is causing my immune dysregulation continues to progress.
I started with infections at the age of three weeks, and I lived at the ENT specialists’ office for the first 12 years of my life. Because I was eventually found to have a congenital problem with my right ear, no one thought to test me for immune deficiency, and in the 80’s testing was rudimentary with few options if a disorder was found.
When I was around 12 my infections improved until I moved to college, but I immediately developed two conditions thought now to be inflammatory conditions: bipolar depression and juvenile fibromyalgia. It is of great interest to me that they both developed at puberty. The work of Jarrod Youngers is making great inroads toward the acceptance of fibromyalgia as a disorder of brain inflammation, and I hope that a cure will be found in my lifetime. Bipolar disorder is finding less ground for acceptance with the psychiatric community, partly because they would have to change their current model. There is much I could say about the scientific stupidity of that last sentence, but this is not a post about being snarky.
I did notice that whenever I moved to a new location or changed jobs I got a series of infections. My worst bout was when I started at a pediatric hospital. I had 8 bouts of gastroenteritis in a 12 month period. I grew almost paranoid…. little
blighters kids, big germs!
Chronic infections resumed in college, and I was constantly ill with something, especially sinopulmonary infections, the hallmark of immune deficiency. But again a reason was found: I had a deviated nasal septum, a complication of weak connective tissue in EDS sufferers. So again no one thought to look into the frequency of infections. And my ear problems in childhood resumed in my 20’s leading to perforated eardrum and the need for a third tympanoplasty (eardrum replacement).
In my 30’s I began with odd symptoms: open sores and crusting behind my ears and on my scalp, fatigue, sun sensitivity, recurrent fevers, plantar fasceitis. I was very ill with a form of hepatitis while pregnant with my daughter that resolved spontaneously when I was induced early. Unknown to me, my disordered immune system was developing autoimmunity, and one morning I got up and almost fell from the explosive pain in the back of one knee. I asked my PCP to do inflammatory labs and my inflammation levels were very high. That was the start of a year of searching. The rheumatologist officially diagnosed my ignored fibromyalgia and thought I had Reiter’s syndrome. And I was diagnosed with something from every specialist I saw: severe sleep apnea, gastritis and GERD etc. Gradually the horrible pain went away and I got a clean bill of health. Six days later I woke up with sausage digits and horrific pain from head to toe. I was in some other crisis, of what no one knew. This time the rheumatologist was not so cheerful. But he did not know what was wrong so he called it “inflammatory polyarthritis”, an umbrella category for inflammatory disease that didnt fit into a known condition.
I did not improve for 3 years. Then I developed triple negative breast cancer and the chemotherapy helped both the fibromyalgia symptoms and the inflammatory pain, until I started a chemo drug called Taxol. I had horrible reactions and it wrecked my nerves. I could feel them dying with each infusion, as my arms and fingers turned beet red and hot as fire. The pain returned and I have not had a pain free day since.
I began to look for reasons for autoimmune disease and cancer and found immunodeficiency syndromes. And I thought that this was probable but I didnt want to investigate further until I started with long bouts of skin inflammation/rash/infection and sinopulmonary infections. So I asked to be tested. My initial tests showed a moderate IgM deficiency, which usually is not too much of a problem. The immunologist decided to rule out other immunodeficieny conditions and discovered that I had profound antibody deficiency. In other words, I do not make antibodies to certain common bacteria. I have an atypical variation of CVID (Common Variable Immunodeficiency) and I require immunoglobulin for the antibodies to keep me healthy. I am at risk for progression to SCID (severe combined immunodeficiency).
I was strongly advised to begin immunoglobulin, a very expensive product made from batched human product. It contains antibodies, thus giving me a passive effect like a newborn has with mom’s antibodies. The cost is immense, so it is restricted to immunoglobulin G and severe cases of antibody deficiency. I started out with IVIG once a month but the side effects were rather awful. I had body aches and migraine for 3 days and despite changes in the type of IVIG I had to sit in a chair for 6 hours and have it run at a snail’s pace.
That got old real quick
But there is a form of immunoglobulin that can be infused under the skin, and I decided to do that once my immunologist agreed that IV was not the best for me. It involves inserting several needles and infusing about two ounces of immunoglobulin simultaneously over about 2 hours once a week. So far not bad outside of some itching.
I have recently developed an autoantibody to the cells that make insulin and GABA called GAD65 autoantibody. This can cause autoimmune diabetes, neurologic disease and cancer. And again no one knows what to make of it and the level is impossible to analyze as I take medications that lower autoantibody levels (immunoglobulin and methotrexate).
So I am back to square one, almost
As usual, neurology wants rheumatology to now get involved in the workup and rheumatology says they know almost nothing about GAD65. Hmmm…..I guess once a doctor gets out of college they are not able to read but I am? I am rather tired of educating people on stuff they can look up easier than I can.
This all makes me feel like a hot potato….