Monday Musings: The Uncertain World of Mystery Illnesses

Where is Dr. Gregory House when you need him?

Were you a fan of the TV show House? It starred actor Hugh Laurie as a flawed physician who was a brilliant medical detective. He took on cases that no one else could solve. Of course, there was much more to the show, including his addiction to Vicodin, but the common thread throughout was his ability to think outside the box and solve the mystery illnesses.

No one really knows how many people live with undiagnosed or mysterious illnesses. The Undiagnosed Diseases Network estimates that around 25 million people in the U.S. live with a rare disorder, but how many are not diagnosed? And how do we get them the help they need and deserve?

I know how many of them feel. I need a Dr. House in my life. I live with a condition that some physicians think may be atypical burning mouth syndrome (BMS). It’s “atypical” because it doesn’t follow the typical pattern of BMS, but they don’t know what else to call it.

It started with tingling

Many years ago, my lips started to tingle occasionally. It wasn’t anything terrible; they just tingled. As the sensation became stronger, I thought maybe I’d gotten addicted to lip balm, which is an actual thing. Who knew? So I stopped using it. Nothing changed. The tingling became more constant and stronger.

Months passed; the tingling continued to worsen. It became burning. But I didn’t tell anyone. I thought, how stupid does it sound to complain about burning lips? Lips? Seriously? So I kept silent. I didn’t even tell my family.

More time passed. The breaks I was getting from the tingling and pain were less frequent. The pain level increased and it became difficult to eat or drink. I mentioned it to a couple of physicians and my dentist, none of whom really took it seriously. I guess they thought it would pass. Spices were definitely out. They made me feel like my lips were on fire. Hot and cold food and drink made it worse. The only thing that helped relieve the lip “discomfort” was pressing on them.

When asked to describe the pain, I say it’s like if you’re frying something and a bit of grease pops out of the pan, hitting you on the lip. Except it’s both my lips from side to side, 24 hours a day, every day.

I finally shared what I was experiencing with friends and family, hoping someone could have some ideas. I still felt stupid though.

Just before the pandemic began, I was accepted into a pain clinic associated with a local hospital. I arrived with three full pages of treatments I tried over the years, from over-the-counter products to prescriptions to complementary therapies, such as acupuncture. They suggested a few other treatments; I even tried two nerve blocks (big needles stuck in nerves in my face, once to deliver anesthetic and once electrical impulses). No relief. At all.

People are desperate

People are desperate for answers. In 2019, the New York Times wrote about the Undiagnosed Diseases Network I mentioned above. This research study, established to improve diagnosing and treating “unsolvable” illnesses, is set to close this month. According to the network, “In its first 20 months, the UDN accepted 601 participants undiagnosed by traditional medical practices. Of those who completed their UDN evaluation during this time, 35% were given a diagnosis. Many of these diagnoses were rare genetic diseases including 31 previously unknown syndromes.”

And yet, it’s shutting down

Medical detective companies at your service?

I reached out to a medical mysteries company to see if they could help me. For a fee, you present your case and medical detectives try to figure out what is ailing you. I figured, why not try?

I don’t know how many people contacted them, but they claim a good success rate. According to information on the site, 60% of their patients reported that the company “successfully lead them closer to a correct diagnosis or cure.” I’m unsure how many people total that 60% represents or what “led them closer” means. I had the go-ahead to write a piece about this type of service for a national organization so I would have asked those questions. I reached out to the company a few times for an interview. After a few requests, one person did finally respond and said he’d get back to me. I’m still waiting.

Alas, I didn’t fall into that 60%. Only three people took an interest in my case, and they didn’t give me any insight or offer anything that we hadn’t already tried. In all fairness, the company did extend my time without cost because my case didn’t get much traction. I’m not disappointed or criticizing that I didn’t get help. It was a chance I took and again, to be fair, I wasn’t surprised.

So what do people like me do? Some facilities, like the Mayo Clinic, have rare and undiagnosed disease programs, but they’re not accessible to everyone due to distance, cost, and a host of other issues that may get in the way. My family doctor here in Canada suggested I go there, but it’s not realistic.

Luckily, being in Canada, my quest to find answers hasn’t been too expensive. I know that’s not the case for many people in the U.S. Insurance policies, even the good ones, will only cover up to a certain point, and they can deny some investigations or treatments that they don’t deem necessary. Some people may find hope, but it may be too far away, even on the other side of the country. Can they afford to take time off work, travel, and stay there? Will their insurance cover it?

Photo by Josh Appel on Unsplash

What can people with debilitating, sometimes life-shortening, illnesses do if their doctors say, “I have nothing else to suggest”? There is no Dr. House to turn to.

Do you (or someone you know) live with an undiagnosed mystery illness? How do you cope? I’d love to read your thoughts in the comment section. Let’s get a conversation going.

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