A hypochondriac’s guide to rare diseases.
I recently made a wrong turn out of the parking lot of the Danbury Fair Mall, where I’d indulged in a bag of Auntie Anne’s pretzel nuggets and a pair of cheap earrings at Claire’s. Bemoaning my love for this soulless crap—and not paying attention to my route—I found myself at the entrance to NORD, the National Organization for Rare Disorders.
I’m a hypochondriac. I’ve also been a state-licensed EMT for nineteen years. EMTs are taught not to diagnose, but in my case these are wasted words. I keep my “findings” to myself, but my vast body of knowledge, gleaned from TV shows like House and the national tabloids, is far reaching.
NORD was founded in 1983. It exists for people whose doctors say, “I don’t know what it is, and I don’t know how to treat it.” It’s a serious organization for people lost in the uncharted waters of pharmaceuticals and clueless MDs. There are some seven thousand diseases that the medical establishment has officially deemed “rare,” and they affect thirty million people. If you are the only person on the planet with prune-belly syndrome (real) or stiff-person syndrome (real), you may have to wait a long time for Big Pharma to get around to you. This is where NORD steps in, advocating for your care on a national level.
On NORD’s website, you can read about their heroic mission; you can add your name to their roster; you can become a donor or an advocate; or you can, as I did, jump to the long list of baffling medical conditions and stand in awe at all the strange things a human body is capable of doing to itself. Here’s a very short sample of the diseases they list:
If, after reading through this long list, you can’t find your problem, you’ll be directed to SWAN, a sister organization whose acronym stands for Syndromes Without a Name. I must admit, I find this concept very appealing, in a lost and existential way—it’s like the French Foreign Legion.
So you don’t think I’m a heartless voyeur, let me share with you my brush with rare diseases. Many years ago, asleep in bed, I thought an atomic bomb had gone off in my head. It shook me so badly that I ran to my doctor’s office as soon as they opened. My doctor diagnosed it, correctly, as exploding-head disease, a benign and fairly common condition that no one knows anything about—except that one’s head does not really explode. It just feels like it has.
Then there was my brave fight with Beshams disease. Whenever I had my blood pressure taken, the cuff really hurt as the doctor inflated it. It wasn’t just a tender pain—it hurt so much that I often ripped the cuff straight off my arm.
After going through a series of exhaustive medical tests that showed there was absolutely nothing wrong with me, my doctor said he had researched it, and I had Beshams: a very rare, quite uncomfortable yet not-life-threatening condition.
When I got home, the first thing I did was go online and order a silver-link medical alert bracelet with my “condition” engraved on it. Then I ordered an around-the-neck dog-tag version. Then I got a wallet ID card stating that I suffered from this debilitating ailment.
I was proud of my self-care—until time passed and I went for my yearly physical. The blood pressure cuff no longer hurt. I told my doctor about this miracle, and he told me that there was nothing wrong with me in the first place. He’d made up Beshams in the same way that doctors used to give sugar pills as a placebo. He knew I wouldn’t leave it alone until I had a diagnosis with a name.
I was both relieved and slightly angry. Flaunting my medical bracelet had made me feel special, and now I was merely another dupe of the medical bureaucracy. Looking at the NORD site, I’m overwhelmed with gratitude that I am not sick. I’m also thankful that I didn’t try to fit “Jumping Frenchmen of Maine Disease” on my bracelet—which I still have, if you’re curious. I wear it from time to time when I’m feeling down.
Jane Stern is the author of more than forty books, including Ambulance Girl: How I Saved Myself by Becoming an EMT. She is the canine editor of Departures and one of the Daily’s correspondents. With Michael Stern, she coauthored the popular Roadfood guidebook series. The Jane and Michael Stern Collection, comprising forty years of their research materials, is on permanent display at the Smithsonian.
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