Awaiting a Diagnosis

Normally, rapid eye movement (REM) sleep is associated with dreams and physiologic muscle atonia—aka paralysis. But in patients with REM sleep behaviour disorder (RBD), the normal suppression of motor activity is lost, leading people to move in response to their dreams; this so-called “dream enactment behaviour” can often be violent.

The vast majority of patients with RBD eventually demonstrate signs and symptoms of Parkinson’s disease or a related disorder, often after a prolonged interval. In one study, the risk rose by about 6% each year, with three-quarters of participants converting within 12 years. Even in cases that appear not to follow that progression, imaging and autopsy studies often demonstrate changes otherwise associated with Parkinsonism.

There is no known treatment to prevent the onset or progression of Parkinson’s.

I had always been a good sleeper, until about the age of 30. At that time, my father was dying of metastatic breast cancer. I would wake up every night at 2:00 a.m., with a feeling that my chest was bound in steel armor. Those 2:00 a.m. wake-ups have been with me ever since, for the past 25 years. Now and then, I would work on my “sleep hygiene” by trying not to read my Kindle in bed and cutting back on caffeine.

A few weeks ago, I decided that my insomnia had gotten out of hand and asked a colleague for the name of a specialist in cognitive behavioral therapy for insomnia.

A certain patient and I had always enjoyed an easy rapport at his annual exams and occasional acute care appointments.

Then one morning he presented with an itchy skin rash. The skin findings were minimal; he had tried over-the-counter creams to no avail. I prescribed a more potent topical medication, and he left satisfied. Two weeks later he called again, this time asking for an urgent visit. The rash had spread and the itch was keeping him up at night. He sent photos via the portal, but their blurriness made them difficult to decipher.

I have chest pain again. Chest pain and dizziness and shortness of breath. So I am in the ER for the dozenth time over the past few years.

And because no one ever knows what’s going on (because I’m a woman of a certain age and all the tests are negative), we all assume it’s just one of those things. It will go away. Or it won’t.

“But don’t hesitate to come in when you have the symptoms again.”

He answers the door wearing only a button-down shirt and incontinence briefs, no pants, paper towels in one hand, his walker out of reach on the other side of his assisted-living apartment.

“Who are you?” His brow crinkles as his dark eyes bore into me, vacant yet suspicious.

“We met here last month,” I say. I reintroduce myself as his new primary care provider and remind him that he was referred to me by his longtime, beloved clinic-based doctor for home-based primary care.

My stepfather, Roddy, was known for being a hypochondriac.  My mother used to say, “If he sneezes, it’s a medical emergency. But he’ll outlive us all.”

This time was different, however. He’d stopped eating, was silent, had no complaints. His oldest daughter convinced him to go to the emergency room. At first, he seemed relieved he’d see his doctor, who, he was sure, would tell him nothing was wrong. Roddy laughed, discussed politics, and reminisced.

Due to some “worrisome but inconclusive” lab results, he was admitted. In the hospital, a wild goose chase began, sidetracked by red herrings. While we studied the trail, disease ravaged his body.

All my childhood summer memories revolve around the pool in our backyard. Shamu floats. Diving for coins. Endless laps to create a whirlpool. Reenacting iconic scenes from Titanic on days when the water was cold.

All those days at the pool also meant a childhood full of sunburns. Though my parents slathered me in sunscreen, I burned easily. I have fair skin—fair enough that I always select the lightest tone when choosing a foundation. I also have too many moles to count. My sole saving grace is that, as a 20-something in the early 2000s, I never got in a tanning bed.

Feel free to call me Dorothy—you know, the girl in the Wizard of Oz who was consumed by a tornado and deposited in an alien land with no anchor but her dog Toto.

Chaos consumes me. As I sit typing this, my desk is littered with a full water bottle, a pill box, bills, scissors, a calendar, a mouse, some essential oils, pens, a Kleenex box, an empty water bottle, a stack of who-knows-what-they-are papers (actually, three stacks), some stuffed animals, an eyeglasses holder, a keyboard duster, some jewelry—I can’t even continue to list all the items.

As a third-year medical student, I’m used to being tired and stressed, and like many of us in training, I tend to neglect my own health. “It’s probably nothing,” I told myself. “I’m overthinking it. Illness anxiety disorder.”

But I’d always been unusually sensitive to cold. Since childhood, my hands and feet would freeze, turning pale, numb, sometimes bluish. I thought it was just a quirky trait. Then I learned about Raynaud’s phenomenon in class, and my classmates and I joked: “You totally have that.”

I’ve been a “lady in waiting” more than once. A traditional “lady in waiting” attends to royalty—which sounds like a pretty cushy job. But when you’re a lady waiting for the results of a biopsy, the task is a royal pain. Waiting for the phone to ring when you’re younger often means getting asked out on a date. Then years later, you find yourself waiting for a call from your doctor, to set a follow-up appointment to discuss your biopsy results. As anyone can attest, this waiting period can be a true test of resilience.

I have had four breast biopsies. The procedures did not hurt since they occurred when I was in a twilight sleep. What caused me pain, however, was waiting for the results.

My imagination would run wild. Would I need a single or double mastectomy? Would I have implants or just live my life with a flat chest as I did through most of my teenage years? Would the cancer be stage 4 and have spread to lymph nodes? How much time would I have left to create memories with my beloved children?

Dear readers,

It was autumn, and I had just started medical school at the advanced age of thirty. I’d always been in good health, so when my symptoms first appeared, I was sure they couldn’t be anything serious.

The first hint of a problem came in the middle of a seminar, when I had to leave the room to urinate. It struck me as a little odd. The next time the seminar met, I used the bathroom beforehand, just to be on the safe side, but it didn’t help. Halfway through I had to excuse myself again.

Hunh.