Medical Mystery: When Sleep Doesn't Come, Death Does

But as Carolyn moved into the last months of her pregnancy, she had a change of heart and mind, revealed in a remarkable interview, taped by Max just weeks after she decided to take the blood test.

"What made you do the test — you've already had one child?" Max asked.

"It's hanging over me all the time. Some of things I might do differently, based on the result, like retirement. ... I don't want to be like my mom, working all her life, and I'd be more prepared for my daughter," she answered. Carolyn remembers well the day her blood test came back.

"I left work. I went to the office, and I waddled in," she recalled, laughing. "[I] took my envelope, went out to my car, took a deep breath and opened it up." The results were negative. Carolyn had not inherited FFI.

"It was a hallelujah moment!" she said, but Carolyn is still worried about her sister, who hasn't learned if she is also negative.

Research labs continue to explore prion diseases, with clinical trials now testing a drug called Quinicrine, which shows promise for treating FFI. The same research may also hold benefits for more common diseases, such as Alzheimer's and Parkinson's.

"Our hope is that some patients may actually do even better than having their life prolonged; that, maybe, in some patients, the Quinicrine will actually cure them," said Geschwind.

(Click here to find out more about Fatal Familial Insomnia or visit the National Institute of Health's page on prion diseases.)

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