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What do you do when your illness has no name?
When I finally saw the big immunologist, he sat with me and my family for over an hour, sympathetically listened to my symptoms, and at the end of the appointment put his hands together and said, "I have no idea what's wrong with you. There's clearly something going on, but this doesn't match any pattern of immunodeficiency I've seen before."
He wound up retiring a week or so later after a long, accredited career in the field.
Since then, I've been undergoing testing so they can figure out exactly where my immune system has failed - they know I have low immunoglobulins, but that doesn't explain my symptoms perfectly. My vaccine responses are mostly fine. They've ruled out the more common immunodeficiencies. It's been months and we're no closer to an answer than before.
My life has been put on pause while they try to figure out what is wrong.
I have a combination of immunodeficiency, some kind of heritable connective tissue disorder/unknown subtype of Ehlers-Danlos, epilepsy and mild hypothyroidism with normal TSH (this might be caused by chronic/recurrent infection).
I've been sick for most of my life and it only seems to get worse. I'm losing my hearing, my spine is collapsing, I have neuropathy in my feet, and I'm in and out of hospital with infections. There is, as far as I can tell, no name for my syndrome.
I nearly died in Janaury after recurrent tonsillitis spiraled out-of-control. I'm terrified I'm not going to get to grow old. I live with a constant fear of the future, but I get up every day and keep going with no idea what tomorrow holds.
The question hangs over my head: is it one thing, or did the universe really hate me enough to hand me several rare diseases?
