A mysterious sleep disorder that turns life into a waking dream

I don’t know what’s going on,” the 19-year-old exclaimed in a panicked voice as his parents entered the nearly deserted emergency room of a hospital in Eau Claire, Wis. He was a freshman at the university there. A high school friend, now at the university with him, had called them with a strange story. She told them that their son had been uncharacteristically quiet for a couple of days — he had a terrible headache. But that morning, he felt well enough to go with her to pick apples. He had been a little out of it all morning, but suddenly he was totally gone — just standing in the orchard staring into space. He wouldn’t even respond to his name. That’s when she called his mother.

Take him to the emergency room, the mother instructed. She and her husband drove 90 minutes from their home near Minneapolis to meet them. The doctors there had ordered tests but gotten no answers. A head CT scan was normal; so were the basic blood tests looking for signs of an electrolyte abnormality or infection. There was no evidence that drugs were involved. The young man had been there for a couple of hours, and he seemed a little more engaged. Though the doctors weren’t sure what was going on, they felt that he wasn’t in danger and said he could go home.

But he is not okay, the mother protested; he had no history of mental illness or drug use. The doctors replied that she should take him to his primary-care doctor in the next couple of days.

Unable to explain

The young man was quiet on the drive home. He couldn’t articulate how he felt. At home, he continued to act strange. He didn’t even recognise the family dog.

The young man’s mother had called James Dufort from the car. He was the pediatrician who cared for her son since the day he was born. Hearing about this strange behaviour, the doctor instructed the mother to take her son to Children’s Minnesota, the pediatric hospital in St Paul. He ordered an electroencephalogram and other tests, which were all normal. When Dufort went to see him in the hospital the next day, he knew there was something seriously wrong. What happened, he asked the young man. A few days earlier, the patient reported, he got a terrible headache. He had migraines as a child, but this felt worse. And he wasn’t thinking right — yesterday seemed like a dream. He recalled going to the orchard, but the next thing he knew, he was in the car, then in the hospital. He couldn’t remember anything in between.

Tests and more tests

The young man was in the hospital for a total of nine days and had dozens of tests on his blood, urine and spinal fluid. He had CT scans, ultrasounds and M.R.I.s. He was seen by specialists in infectious diseases, neurology, gastroenterology and psychiatry. Strangely, he slept through them all — sleeping up to 20 hours a day. And when he was awake, his mind and attention seemed elsewhere — though he couldn’t say where. Was his condition infectious? Genetic? Psychological? Nothing seemed to fit; every time they thought of a possible diagnosis, testing ruled it out.

Toward the end of the second week in the hospital, the young man began to sleep less. When he was awake, there were glimpses of the son his parents knew. No one could tell them what he had, but he seemed to be getting better. Perhaps he caught a virus that they didn’t test for.

Cycles of restoration and relapse

He spent several weeks at home — still hazy and out of it. He was anxious, jumpy and oddly suspicious. He seemed to comfort himself by singing, belting out song lyrics — sometimes for hours. And then, one day, the inexplicable fog he had been stuck in broke. He was a little slower, a little less outgoing, but he was back. With no treatment and no explanation.

He returned to the university just before Thanksgiving. He went to classes, saw his friends, played volleyball. Life seemed back to normal — for a month. In mid-December, he started to feel tired again. The headache came back. He had to sleep more — a lot more. And when asleep, he had vivid, often terrifying dreams. Dreams that seemed as real as life. It was his waking life that felt unreal and dreamlike.

Before the semester ended, he had to go home. He slept through Christmas. His mother quit her job as a preschool teacher and stayed with him during the day. At night, his father slept on a sofa outside his room. Finally, just before the new year, he started to wake up again.

Although relieved that he was finally over whatever he had, the young man was reluctant to go back to the university. He enrolled in a school half an hour away from his parents’ house and tried to pick up the life he had before all this started. He did well and finished the year with high marks.

Then, in June, he had a busy weekend with parties and friends. And on Sunday morning, he felt the now-familiar headache and the fatigue that signaled the start of another bout of sleeping. If he just got a good night’s rest, he told himself, he would feel better. But he didn’t. His body required hours more sleep. For the young man and his parents, this was the most terrifying episode. He had hoped that the first two bouts were caused by an undetected infection. But these symptoms coming so long after he fully recovered suggested something worse, something permanent.

Searching the internet for Help

His mother had been doing her own online research. Surely, her son was not the only one who had this — whatever it was. She fed his symptoms into her searches, trying to find the combination that would turn up a similar story: long periods of sleeping; feeling unreal, anxious, suspicious. She found nothing that fit.

Unable to sleep one night, she picked up her laptop and tried again. She added the fact that these episodes of sleep came and went for no reason. That combination finally led her to an article published in a medical journal nearly a decade earlier about a disorder called Kleine-Levin syndrome. The very first sentence delivered a jolt of recognition. Kleine-Levin was a rare sleep disorder that primarily affected male teenagers, causing periods of hypersomnolence that can go on for weeks.

The pediatrician steps in

The next morning, the mother sent a copy of the article to Dufort and made an appointment for her son. After reading the article, Dufort called around looking for a colleague familiar with this rare disease. It took a while, but he finally found one.

Kleine-Levin is a rare and still-mysterious disorder. Estimates are that there are one to five cases per million people. It usually starts during adolescence and boys are four times as likely as girls to be affected. Kleine-Levin is thought to be a genetic, immune-triggered disease, like narcolepsy. But even now, after almost a century, little is known about why it starts or eventually stops. In general, those with Kleine-Levin will have episodes of hypersomnolence — lasting a median of 10 days — as often as once a month. These episodes can come and go for years but usually stop after 15 to 20 years. During an episode, waking hours are characterised by a sense of unreality. In between, the patient feels and acts completely normal. There is still much we don’t understand about this condition, but lithium has been shown to reduce the frequency and duration of the episodes.

The young man was started on lithium this summer, and so far he has been fine. He is back in college, taking 16 hours of coursework. Though terrified by the likelihood of a relapse, he is fascinated by the science of it. He is studying neuroscience now and is considering devoting his career to investigating the brain and his disease.