Plagued by a drooping eyelid and increasingly severe muscle weakness, one woman spent months visiting countless specialists and undergoing dozens of tests—including CT scans, MRIs, and biopsies—before her primary care physician identified the unlikely cause: myasthenia gravis, a rare disease affecting just 400 in every 1 million people, Lisa Sanders writes for the New York Times´ "Diagnosis."

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Background

About four months prior to her diagnosis, the patient, a previously healthy 68-year-old woman, noticed that her right eyelid was drooping. And just two days later, when she consulted with her eye doctor, she was seeing double.

The ophthalmologist was convinced that the patient had third-nerve palsy but couldn't discern why. The patient was immediately sent to a neuro-ophthalmologist, who was similarly at a loss about the cause of the woman's symptoms. Over the next few months, the woman was sent from specialist to specialist—undergoing blood tests, CT scans, MRIs, and biopsies—as her care team struggled to identify the issue.

Despite all the investigative work, the woman was left with just a growing "list of terrible diseases that she didn't have," Sanders writes, including brain tumors, an aneurysm, a stroke, and vasculitis. And her symptoms were getting worse. She found it hard to work at her job as a salesperson, where she occasionally had to move items on the floor, and even struggled to open a door.

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Research: Expedite patient diagnosis

Eventually, the woman went to her primary care physician, Alissa Chen. Chen immediately sent the woman to the hospital, where she met Benison Keung, a neurologist. Keung ran another slate of tests, sending her home after three days, still without a diagnosis.

But once she got home, the patient received a call from Chen, who had a new theory. According to Chen, the woman's symptoms were consistent with a very rare disorder—affecting just 400 in every 1 million people—called myasthenia gravis (MG).

"In this rare disorder, the body's immune system attacks what's called the neuromuscular junction," Sanders writes, "the point where the nerves connect to the muscles to tell them what to do." And it often presents with drooped eyelids and double vision before progressing to other parts of the body—and potentially rendering people suffering from the disorder too weak to breathe on their own.

Chen told the patient she had already ordered the blood test needed to confirm or rule out the diagnosis, and she encouraged her to get it done as quickly as possible.

A slow road to recovery

However, three weeks after that phone call, the patient returned to see Chen with increasingly severe symptoms—including difficultly talking and an inability to smile—and she still hadn't taken the test. Chen wasn't in the office, so the patient was directed to a colleague, who also urged the patient to undergo the blood test and notified Keung about the potential diagnosis.

Alarmed, Keung immediately called the patient and urged her to go to the ED. Once admitted at Yale New Haven's ED, the patient was put on treatment for MG, including high-dose steroids and intravenous immunoglobulins aimed at tamping down the parts of her immune system attacking her neuromuscular junction. Keung hadn't yet confirmed the diagnosis, but he didn't want to risk her getting any weaker and potentially requiring a ventilator.

The following day, Keung performed a repetitive-nerve-stimulation test, which delivers small shocks designed to contract a given muscle in the patient. In a patient with healthy nerves and muscles, the identical shocks would result in identical muscle contractions—but in this patient, the first few shocks produced weak reactions, and they became weaker as the test continued, Sanders writes.

With those test results, the long-delayed blood test—finally conducted at the hospital—confirmed the diagnosis: the patient had MG.

The patient remained in the hospital for two weeks and slowly regained her strength. Now she's back at home and—although she will likely have to take immune-suppressing medications for the rest of her life—finally able to smile again (Sanders, "Diagnosis," New York Times, 3/4).