Sleeping Beauty disease affects 400,000

11:44 AM, Nov 22, 2012   |    comments
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ATLANTA -- Anna Sumner unloads her dishwasher, then heads outside to rake the leaves. The sorts of chores many find mundane or mind numbing are exactly the sorts of things in which Anna revels, because for most of her adult life, there was only one thing she did to the exclusion of all else.

"I kept telling myself well I was just a girl who needed a little bit more sleep than the average bear," she said. 

Anna says her deep craving for sleep began at the end of high school and by her mid 20's sleep was an addiction that consumed her. Anna slept so much, 16 and even 18 hours a day, that when we asked her at the beginning of our interview how old she is, she hesitated.

Looking toward the ceiling she paused. "I am 37 -- I had to think. When you sleep thru your 20's and 30's, you kind of forget how old you are at a certain point."

One can't help but think of Sleeping Beauty who could only be awakened by a kiss from a prince, but the reality of Anna's life was that no amount of sleep was enough; she never felt rested, or fully awake. For Anna, there was no prince, but there was Emory's Dr. David Rye, who was determined to find out why this driven young woman, who had graduated from Princeton University and Duke law school, could no longer work as an attorney, because she couldn't stay awake.

Anna said, "My record was 53 hours. There was no difference between going to bed at night and waking up the next day and going to bed one night and waking up two days later."

People like Anna, who sleep too much, have forever been diagnosed with other things. Dr. Rye said, "They get diagnosed with laziness. They get diagnosed with depression. They get diagnosed with chronic fatigue syndrome."

At first Anna did sleep studies, but it took a spinal tap to reveal why this young, formerly vibrant woman was sleeping her life away.

"There's a small molecule that we can isolate from the spinal fluids of these patients, that seems to act like a sedative drug," Rye said.

That peptide, too much of it, made Anna and the other 31 people in Dr. Rye's study feel like they were on heavy doses of Ambien 24 hours a day, year after year after year. When Anna got the news, she was on disability, living with her parents in Mississippi.

She said, "Dr. Rye called and said 'Well we know what it is.' It was a watershed moment."

The amazing news is the condition can be reversed with a drug that is used to awaken patients from minor surgery. Dr. Rye predicts one in 800 people, almost 400,000, could have the newly discovered disease, tentatively named Hypersomnia.

The bad news is the drug is only made in IV form, and there's far too little to go around. He said, "We'd be able to treat four to five people with the entire yearly supply of North America. So there's a scaling problem here."

Anna is the only person in the world getting the medicine, Flumazenil, specially compounded for her. She slips pills under her tongue several times a day to stay awake, and it's in a cream she rubs on her arms at bedtime every night - so she can wake up the next morning.

"It's given me my life," she said. "There's no other way to put it."

And it has given Anna the luxury of time. Until now she had no social life, no dinners or movies or trips or even nights out with friends. She's got a lot of catching up to do.

But she has only a year's supply of the medicine left, and she can hardly bear to contemplate returning to a life that was no life at all.

"Emotionally, I think it would, it would almost kill me," she said.

Rye is hoping the announcement of this new disease will spur drug makers to action. As for Anna, all that lost time has taught her a most important lesson -- to live in the moment. 

 

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