A 74-year-old man suddenly struggled to perform his normal day-to-day activities, and his wife noticed that "he could barely walk." But it wasn't until a doctor received the full results of a previously incomplete lab test that they determined the rare cause of the man's severe symptoms, Lisa Sanders writes for New York Times Magazine. 

Expedite patient diagnosis

'He could barely walk'

One day, the patient's wife of 46 years noticed her husband had difficulty moving around as easily as he had before—an issue that progressed until, a few weeks later, he could barely walk. When the patient and his wife arrived at LincolnHealth-Miles Campus Hospital in Damariscotta, Maine, ED doctors quickly determined that the man was not weak but ataxic, meaning he lacked coordination rather than strength.

After observing the man's uncertain and awkward movements, doctors at LincolnHealth were worried that either a stroke or a tumor had injured his brain. However, they did not find any evidence to support their worries on two CT scans or an MRI. When the patient's doctors were uncertain how to proceed, he "decided it was time to go home," Sanders writes.

However, it only took one day for the patient to realize that he would not be able to "just tough it out at home," Sanders writes. So, his wife decided to take him to Mid Coast Hospital, a larger hospital a couple of towns over—and the few steps he took from porch to car, with the help of his wife, were the last he took for weeks.

Starting treatment for the 'highest suspect'

Upon arrival, Roople Unia, the on-call neurologist, noted that the patient could not walk, and could barely even stand. In addition, the patient was seeing double, and he had a violent cough. 

At the age of 74, the patient had several medical problems, including diabetes, high blood pressure, some heart disease, and gout. However, none of his known medical problems had ever impacted him like this before.

Unia suspected that the patient's swallow was just as uncoordinated as his walk. She noted that his cough could have been his body's last-ditch effort to keep food, liquids, and saliva out of his lungs.

Since the doctors at LincolnHealth had already ruled out a brain tumor or stroke, Unia began to explore other diagnoses, including vitamin B12, B1, and E deficiencies and autoimmune disorders.

Occasionally, according to Sanders, autoimmune diseases are associated with certain cancers. These paraneoplastic syndromes occur when the immune system attacks cancer cells, which can cause serious injuries to the nervous system and other parts of the body.

The highest suspect on Unia's list was a rare version of Guillain-Barré syndrome (GBS) known as the Miller Fisher variant. GBS is an autoimmune disorder that is typically triggered by an infection—either naturally or through vaccination. When antibodies fight the infection, they erroneously attack the nerves that control the body's movement, starting first at the legs and moving up the body.

In the Miller Fisher variant, antibodies attack the nerves that control the muscles in the head and neck, along with those in the feet and legs, which causes double vision and difficulty swallowing.

The neurologist immediately ordered the blood test that screens for the Miller Fisher variant—but results for this type of test typically take weeks.

Meanwhile, Unia started treating the patient without this proof. The treatment suppresses the immune system—first with steroids and then, if necessary, with intravenous immunoglobulin, an infusion of antibodies that block the destructive GBS antibodies.

An incomplete test result reveals a hidden diagnosis

On the patient's last day of treatment, hospitalist Dmitry Opolinsky took over his care. As he waited for the treatment to fully take effect, Opolinsky closely monitored the results from the patient's various diagnostic tests.

The Mayo Clinic, where the neuroimmunology lab scans for evidence of any paraneoplastic syndromes, reported that the patient's tests were all negative, which meant the man most likely had GBS. However, almost a week after treatment, the patient still had not improved.

The following day, Opolinsky received a text to call a number he didn't recognize. The message was from Andrew McKeon, co-director of the Mayo Clinic lab. McKeon quickly informed Opolinsky that the lab results were incomplete.

A few years earlier, McKeon's lab discovered an antibody that was still so new it had not yet been included in the automated result form used in testing. Most importantly, McKeon told Opolinsky that the patient had a very strong positive result for this antibody. "If he's a smoker," McKeon predicted, "then he has small-cell lung cancer. If he's not, he probably has Merkel cell skin cancer."

'Come spring, he'll be back on his tractor'

Opolinsky knew that the patient had never smoked, so he focused on the possibility that he had this rare, aggressive form of skin cancer that spreads at a much higher rate than other skin cancers.

He immediately ordered a CT scan to look for metastases. Deep in the patient's left underarm, he found an enlarged lymph node—roughly the size of a lime. Although Opolinsky could not feel the mass in the patient's underarm, surgeons were able to quickly locate and extract it.

After the surgery, test results confirmed that the mass was positive for Merkel cell carcinoma. A PET scan soon after showed that the patient was free of cancer.

Although it took some time, and an immune-suppressing medication, the patient slowly started to recover. Currently, the man is able to walk, but only with the assistance of a walker. The man still coughs a lot. However, "he's hopeful that, come spring, he'll be back on his tractor, even if he has to get onto it from the porch," Sanders writes. (Sanders, New York Times Magazine, 2/16)