Dr. Cox: Newbie, do you happen to know what a zebra is?
J.D.: That patient just mocked me!
Dr. Cox: It’s a diagnosis of a ridiculously obscure disease when it’s much more likely that the patient has a common illness presenting with uncommon symptoms. In other words, if you hear hoof-beats, you just go ahead and think horsies – not zebras. Mm’kay, Mr. Silly Bear?
Well, even the brilliant Dr. Cox was wrong sometimes. According to the Immune Deficiency Foundation (IDF), “Patients with primary immunodeficiency diseases are the zebras of the medical world.”
I was looking at a chart today that showed the time between when people first manifest symptoms, until the time that they are diagnosed with an immunodeficiency.
Yours truly falls at the far end of the bar chart. I started having recurrent ear infections when I was a baby that continued throughout childhood, and was out more than 50 days my senior year of high school due to chronic sinusitis. I spent a lot of my life being sick and then being well but feeling exhausted. However, doctors told me that I simply “got sick a lot.” Even after sinus surgery and surgery to remove a giant (or as I like to think of it, “deluxe”) lymph node, no one considered looking at the bigger picture.
As the IDF points out, “Primary immunodeficiency diseases are a group of relatively rare conditions caused by intrinsic or genetic defects in the immune system.” Doctors rarely look for them. People don’t know they have them. According to research, this category of diseases occurs in one in 1,200 people. However, it’s speculated that the number would be higher if we had adequate screening at birth, or if doctors thought to look for an immune system issue when their patient had recurring infections.
I was finally diagnosed with Common Variable Immune Deficiency (CVID) after a hospital stay for an uncommon blood disorder. When I was 31 years old.
Yesterday, I wrote about a fantastic trip I trip I took during winter break of my junior year of college while studying in France. I mentioned how I got sick during those two weeks. What I didn’t mention was how sick. I had trouble sleeping in new places back then, so all the time my friend and I spent in youth hostels was time that I didn’t sleep. After a few days, my body was exhausted and I quickly developed the sniffles. By the time we wound up in Prague for New Year’s Eve, I was calling myself “Typhoid Nancy.” At midnight I rang in the new year on in the main square, giving healthy strangers viral kisses on each cheek as we wished each other a “Bonne Année.” (Still had the time of my life!)
I visited the doctor after we returned to school, and was told that along with an infection in both ears, I had sinusitis, laryngitis and bronchitis.
Many of my happy memories are colored by parallel memories of being sick.
Yet since I was diagnosed, I get sick a lot less often. I still catch everything everyone else has, but now I can get over it sooner than I used to.
I don’t usually leverage the [admittedly limited] power I have here. But it’s my blog. It’s my disorder. And there are too many people who go through hell on the way to diagnosis, and then go through hell once again as they try to navigate their new-found disease. So I’ll put myself on the line and direct you to the IDF donation page.
Granted, it’s not a sexy cause – it doesn’t come with a ribbon or a celebrity.Hang on a minute…I’m wrong about that. It has a super sexy animal print logo!
This month, IDF launched their Think Zebra! campaign, to raise money for research.
So donate money for research, all ye horses!