Rare Diseases and Medical Mysteries

February is Rare Disease Month, but February 28th (or 29th in a Leap Year) is Rare Disease Day, globally. Many of the rarest-of-rare are orphan diseases which have so few sufferers, there is limited incentive for pharmaceutical companies to fund R & D for treatments and cures.

Addison’s Disease is merely somewhat rare compared to these, with an incidence estimated at .6 in 100,000 people, according to a recent study. My family tree is riddled by Addison’s–properly known as Primary Adrenal Insufficiency–co-morbidities, with one of my cousins having experienced a much rarer autoimmune disorder. She died when she was 13, and she was the closest in age to me.

“Medical mysteries” can be interpreted, of course, in different ways. There are the as-yet-undiagnosed conditions that can hamper people from living their lives as fully, on their own terms, as they would like to. And there are the serialized television programs and movies that investigate rare diseases, and the unusual presentation of more common disorders.

House is probably the best known of those, but I retain a fondness for Quincy, M.E., which dates me. Jack Klugman played an L.A. medical examiner whose cases were frequently entangled with police investigations. I imagine he’s the precursor for Patricia Cornwell’s and Kathy Reichs’s female medical-forensic investigators, who gather most of their evidence from corpses.

Oh, and this is fun: Jack Klugman actually testified before Congress about orphan drugs back in 1982! I can’t imagine the American Congress will be calling on Hugh Laurie, to pontificate about the benefits of the UK’s NHS, any time soon.

There’s a whole class of medical thrillers by people like Robin Cook, the author of Coma, with which I’m largely unfamiliar. Although there is an intriguing Toronto-based writer who composes these, and I enjoyed Melissa Yi’s latest addition to her series. The fact that an ER doc can knock off multiple novels should, indeed, put paid to the notion that only people with gobs of free time can produce completed manuscripts.

According to Eleanor Cummins, there’s an emerging genre of “medical mystery” creative nonfiction that is “the new true crime.” Such books, as Cummins describes, are often illness memoirs. The authors, usually female, recount seeking a diagnosis for symptoms that the medical establishment has either dismissed or failed to explain.

I’m reminded of Elaine Showalter’s Hystories, an odd misstep in an otherwise brilliant literary critical career. Showalter’s slim 1998 volume, which she lectured about at U of T while I was in grad school, purports to find cultural meaning in media-fuelled “hysteria” epidemics. Her examples include Gulf War Syndrome, chronic fatigue, and false memory recovery.

As a doctoral candidate working on trauma and memory, I was unpersuaded, and I remain unconvinced. In the quarter of a century since the publication of this book, we’ve learned more (but not always enough) about many of the manifestations of illness that Showalter discusses as self- and socially-constructed.

The Mayo Clinic seems to believe in myalgic encephalomyelitis/chronic fatigue syndrome, or ME/CFS. Other research has pointed to how faulty some of the experiments were, claiming to prove that memories of trauma could be planted in credulous subjects.

All this to say, human minds and bodies are awe-inspiringly complex. The fact that we don’t have a current definitive diagnosis or understanding of medical aetiology is not, to me at least, sufficient grounds for pronouncing people’s disorders to be fictional.

Showalter’s on less shaky ground with alien abductions. But have a look; you can access Chapter 1 here.

Not having a diagnosis is discombobulating, and as I learned in 2021, it can also be life-threatening. I lost thirty pounds in a few months and couldn’t eat due to nausea, while my skin looked oddly bronzed and I suffered from intense weakness. All of my hair was falling out, or stopped growing. Perimenopause, proclaimed the doctor who never saw me on video, much less in person.

After my hospitalization, I gave his office a call. I let them know that for the several months I’d been telling him I might have Addison’s (he’d said it was impossible, much too rare, and I shouldn’t be googling my symptoms), I’d been inching closer to collapse in the ER. I would have appreciated an apology, but the clinic closed shortly thereafter.

To be fair to him, it was pandemic-era medicine, with rushed appointments over the phone. And apparently male doctors are under-informed about perimenopause. Another medical mystery, but possibly rooted in poor medical education about women’s health.

Still. In 2025.