The middle-aged woman perched on the edge of a plastic chair as the doctor explained his thoughts on why her son was having persistent headaches. Suddenly, she toppled forward, collapsing onto the linoleum floor. Dr. Philip Ledereich hurried over to the woman. “Call 911,” he shouted to his nurse. “The patient’s mother has fainted.”
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Dan Winters
Dan Winters
Was the fainting brought on simply by stress? Or could there be an underlying neurological problem?
Ledereich, an ear, nose and throat specialist in Clifton, N.J., first met the mother a couple of weeks before, when she herself came in as a patient. She was fainting several times a day, and no one knew why. Ledereich hadn’t been able to figure it out, either. Despite that, she took her son to see him for the treatment of a chronic sinus infection. Ledereich was describing various treatment alternatives when the woman pitched to the floor.
She had been having these spells almost daily for the past several months, she told him at their first appointment. She was 49, a nurse, and she considered herself pretty healthy until one Saturday nearly three months earlier. That day she had just put on her shoes to go to a bar mitzvah, and as she straightened up she felt a fluttering sensation in her stomach. The next minute she was on the floor. Her husband rushed to her side. She could hear him calling her name, but she couldn’t answer him; she couldn’t even open her eyes.
And then, just as quickly as it started, it was over. She felt just fine. She didn’t want to go to the hospital, she told her husband. She wanted to go to the synagogue. And so they did, walking a mile. At the coffee hour following the service she started to feel that fluttery sensation in her stomach. Was she going to faint again? She was almost at the door when she collapsed. Eventually, her husband persuaded her to go to the hospital.
She spent two nights in the cardiac-care unit as doctors looked for any of the irregular heart rhythms that could start as a fainting spell but might end in death. They found nothing. She had a head CT scan and lots of blood tests. Everything was normal, so she went home.
Syncope — the medical term for fainting — is common. Up to half of the population will faint at least once in their lifetimes. Most of the time the cause is benign and transient. The trick for doctors is to identify those cases that are neither. When a heart beats too rapidly, too slowly or too erratically to deliver enough blood to the brain, you faint. If a normal rhythm isn’t restored in time, you may never wake up.
Far more often syncope is triggered by dehydration or other causes of sudden low blood pressure. The best way to distinguish among these nonfatal varieties is to witness an attack. And so, before the patient left the hospital, she had a tilt-table test — a study designed to provoke a fainting spell. The patient was hooked up to blood-pressure and cardiac monitors, strapped to a table positioned almost vertically and watched for up to an hour. A test is successful when the patient passes out and the monitors capture the cause. But the patient didn’t faint. She went home hoping that whatever caused the two episodes had simply gone away.
But the next day she was driving to work and began to feel that now-familiar flutter in her stomach. She pulled off the highway just in time. When she awoke, she called her husband, who took her directly to her doctor’s office. Her internist was as baffled as the doctors she’d seen in the hospital. He sent her to specialists. One thought that these spells might be seizures rather than syncope. But a normal electroencephalogram (EEG) suggested otherwise. A neurologist in New York carefully examined her and her now-thick chart and pronounced definitively that there was nothing wrong with her and that she should try to relax and maybe take up yoga.
That’s when she scheduled the appointment with Dr. Ledereich. She thought she might have an inner-ear problem, and he had been recommended by several friends. At that first encounter, Ledereich was not optimistic. He knew she’d seen many specialists. But he listened to her story and examined her. Like the doctors before him, he found nothing. She felt a little tired and had a little asthma, but other than these strange, repetitive spells, she was fine. He would get her records and then have her return. Meanwhile, when her son needed to see an E.N.T., she took him to Ledereich — and now she lay motionless on the floor.
“Don’t call 911,” the patient called out. She opened her eyes. “This happens to me all the time. I’m fine. Really.”
Ledereich watched as the patient calmly sat up. “I know what you’ve got!” he told her excitedly. Her sudden collapse looked as if a switch had been thrown and all her muscles just turned off. Ledereich realized that although it looked like syncope, it wasn’t; she hadn’t actually lost consciousness. What she probably had, Ledereich told her, was something called cataplexy, and that meant that she also had narcolepsy. With narcolepsy, elements of sleep invade your waking hours, and elements of wakefulness intrude on sleep, leading to insomnia at night and persistent sleepiness during the day. Most patients with narcolepsy also have cataplexy. In this disorder, the total loss of voluntary muscle control that keeps us from acting out our dreams as we sleep interrupts our waking life, causing the sudden, dramatic loss of strength he observed. For reasons that are not yet known, these attacks are usually triggered by strong emotions.
“I was telling her about possible treatments for her son’s chronic sinusitis,” Ledereich explained to me, “and I said that if all else fails, we could try surgery. As soon as the word was out of my mouth, she hit the floor.” For the doctor, the combination of three factors — the patient collapsing after experiencing stress (hearing that her son might need surgery), the fact that she could hear him ask the nurse to call 911 (indicating that she was not unconscious) and her rapid recovery — added up to a diagnosis of cataplexy.
The biology of narcolepsy is only beginning to be understood. Cells that make the proteins that keep sleep, and in particular R.E.M. sleep, at bay are somehow destroyed, and that allows bits of R.E.M. sleep to penetrate our waking hours. No one knows just what causes the destruction of these cells. This is a genetic disorder, but most who have the genes don’t have narcolepsy.
The patient hadn’t complained of sleep problems, but when Ledereich began probing, they were there. Most of her adult life she had slept in two- to three-hour naps. Hearing this, the doctor was certain she had narcolepsy and cataplexy. A sleep study confirmed his diagnosis.
Treating cataplexy is difficult. Many patients end up on a drug sold under the trade name Xyrem, known on the street as GHB, the date-rape drug. It is a powerful, fast-acting sedative and helps those with cataplexy get the sleep they so desperately need. Her doctor warned her that it’s only moderately effective, so the patient was thrilled when the spells stopped once she began taking it. But for reasons that neither the patient nor her doctors understand, after about six weeks, they returned. At first, just occasionally. Then almost daily.
The patient has learned to cope with her unusual condition; she no longer drives. And when she feels the warning signs, she tries to alert those around her to tell them not to worry. She’s part of a small community, and by now, most know her well enough not to call 911. Most, but not all. Recently at her son’s bar mitzvah, she began to have that familiar fluttering in her stomach. She tried to warn the woman next to her, she said, but ran out of time. The woman shouted for help before others came over to quietly explain that this was an ordinary event with her. The patient paused and then told me with a quiet laugh, “I guess she doesn’t get to synagogue that much.”
Lisa Sanders is the author of ''Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis.'' If you have a solved case to share, you can send her an e-mail message at lisa.sandersmd@gmail.com.
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I think I'll pass. Not that big of a current movie buff anyway.