Scientists Discover Narcolepsy Gene

As medical disorders go, narcolepsy has the paradox of being popularly portrayed in comedy, but being a rare, devastating and poorly understood condition in real life.

Only one in 2,000 people have the disease, which means doctors can rarely get enough patients or funding to really study narcolepsy and make advances to treat it. But Sunday, in the journal Nature Genetics, researchers reported that they discovered a genetic variant which increases a person's susceptibility to narcolepsy by 79 percent.

Dr. Emmanuel Mignot, a co-author of the study, said the gene discovery is not a breakthrough for a cure -- only one in 300 people with the variant actually have narcolepsy -- but a big step toward understanding how this extraordinarily rare disease works.

"It's definitely a very exciting finding ... and there is more to come," said Mignot, who is professor of Psychiatry and Behavioral Sciences and director of the Center for Narcolepsy at Stanford University.

For some narcolepsy patients, any news, no matter how buried or complicated to understand, is big news.

After Sharon Smith lost her career and her independence to narcolepsy in 1989, she said she kept an eye on any narcolepsy news.

"It would be wonderful if they could predict, even a percentage of people destined to have narcolepsy," said Smith, president of the Board of Trustees at the Narcolepsy Network Inc in North Kingstown, R.I.

"If we can't be cured, the next best thing is to be certain that future generations don't have to suffer," Smith said.

A Career Ruined by Narcolepsy

Sharon Smith's narcolepsy symptoms came to a terrifying head one night as she walking home from her job as a senior tax manager at the Arthur Andersen accounting firm in Manhattan. Before her collapse, Smith had no idea that she had narcolepsy.

"I was walking to Penn station, and some people stopped me, I guess they were tourists, and asked for directions," Smith said. "I thought to myself, 'I really should have warned them that Central Park isn't the best place in the dark.'"

The next thing she knew, Smith was lying paralyzed against a shoe store unable to stop someone from robbing or hurting her.

"It was very scary," she recalled. "I was very disappointed by the people in the shore store; they saw it and did nothing to help."

Luckily two ladies passing by stopped and stayed with her, thinking she had a seizure. Ten to 15 seconds later, she was back on her feet.

"That was good, that was reassuring because the fear can cause the attacks to come back," Smith said.

For Smith, that small worry over the tourists started a severe reaction among some narcoleptics called cataplexy -- a sudden loss of muscle control set off by a strong emotion.

She had more benign symptoms before as a child, but not a full body collapse.

"When I laughed very heartily, my hands would go dead -- I couldn't even pick up a pencil," said Smith. "It used to be a joke in my family."

But by age 31, Smith's narcolepsy had progressed to a debilitating point. She couldn't sleep at night, but she couldn't stay awake enough to work during the day. Her cataplexy became a full body collapse even at the surprise when her mail was delivered early.

"A lot of things went through my head at the time, I was thinking brain tumor, brain cancer, multiple sclerosis," Smith said. "Narcolepsy was the furthest thing from my mind."

Within a year after her diagnosis, Smith left her career.

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