Book Traces Family Suffering from Deadly Insomnia Author D.T. Max traces the story of members of an Italian family who suffer from a deadly genetic disease that makes it impossible for them to sleep. The disease can be traced back in the family more than 200 years.
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Book Traces Family Suffering from Deadly Insomnia

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Book Traces Family Suffering from Deadly Insomnia

Book Traces Family Suffering from Deadly Insomnia

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From NPR News, this is ALL THINGS CONSIDERED. I'm Michele Norris.


And I'm Robert Siegel. For generations, the Italian descendants of an 18th century Venetian doctor have been dying of a strange and horrible disease. In middle age, the neck stiffens, the pupils narrow to the size of pinholes and soon, insomnia becomes persistent and maddening.

The Family That Couldn't Sleep, as author D.T. Max calls them in the title of his book, have been passing on this genetic disease that involves prions. In telling the story of the Family That Couldn't Sleep, D.T. Max tells the story of prions, of diseases as seemingly disparate as scrapie, which broke out among European sheep and kuru, which appeared among members of a highland tribe in New Guinea. He writes of Creutzfeldt-Jacob disease and of its far more common counter-part among cattle, BSE, more commonly known as mad cow disease.

It's a story of scientists, neurologists, veterinarians, but ultimately it is about rogue proteins and the gene that has plagued that Italian family.

D.T. Max, welcome to the program. And tell us about this family and their experience of the disease called fatal familial insomnia.

Mr. D.T. MAX (Author, The Family That Couldn't Sleep): Fatal familial insomnia is exactly what it sounds like. It's a progressive, inherited neurological disease which - whose main symptom is complete inability to sleep. First, you kind of sleep lightly, maybe you can catch a nap in the afternoon. But as time goes on, you lose the ability to sleep at all. You accumulated absolutely astonishing sleep debt. You're beyond tire. Most of us have had some experience with insomnia. Perhaps, you're nervous about an appointment the next morning, or a job interview. You'd stay up all night tossing and turning.

Just multiply that by a thousand - a thousand and a thousand again, because they for nine months until, I think, blessedly the disease ends in death or mercifully, simply cannot sleep.

SIEGEL: This afflicts the Italian family whose name you don't use in the book. And I gather or perhaps a few dozen other families, but that's about it?

Mr. MAX: I know of two families in the United States who have that condition. The estimate that I have seen is about 20 families worldwide are known to have the condition and if we knew the genomes of all the people on earth, we probably got to around 80 families.

SIEGEL: Members of the Italian family have been dying of FFI - that is fatal familial insomnia - for nearly 200 years now. And it's fascinating in your book to read of how the same symptoms essentially in different times have been diagnosed differently and have been seen as different ailments before the disease was finally understood.

Mr. MAX: Doctors basically reach for what they know of. So, for instance, malaria was prevalent in the Vanatau in the early 19th century and as a result, members of the family were said to have malaria. When vonaconomuos syndrome swept Europe in 1918, 1919, well, in that case, the family had vonaconomous syndrome. As we moved to the more recent year, they were often said to have delirium tremens.

SIEGEL: Alcoholism, they constantly ask the people admitted at the hospital, is this person a heavy drinker?

Mr. MAX: They demanded it. They were practically insisting on it.

SIEGEL: In the end, we learned that the disease is in fact, well, it obviously is genetic and it's been passed down through the generations of this family. But originally it only involves prions. What are prions?

Mr. MAX: Prions are proteins, which when misfolded and all proteins fold. A protein is sort of a born in the cell, essentially like a straight piece of hair, and then kind of crinkles up and the way it crinkles determines to some extent its function. Well, most proteins have only one way they can crinkle. Prions, unfortunately, have two ways they can crinkle.

One way is a perfectly healthy normal way and when the prion protein is normal and healthy it fulfills some function in the cell that actually, we don't know. But when the protein misfolds, it takes on astonishingly enough the properties of a virus.

Now this is strange for two reasons. One, where the basic ideas of biology is that only living things can cause infection - viruses and bacteria primarily. And the second thing is that, if in fact, the protein can cause an infection you have a very difficult epidemiological problem, which goes something like this. The first thing you want to do with an infection is to kill the infectious agent. But proteins aren't alive. So how are you going to kill something that isn't alive? It's extremely difficult. And it's one reason that prions have a tendency to well up into these extraordinary epidemics and epizootics.

SIEGEL: The other diseases caused by prions that I mentioned a moment ago, Creutzfeldt-Jacob disease or mad cow disease or scrapie for that matter. These have been linked to people or animals ingesting meat and ingesting the prion. But this is different in this particular illness. It's not the individuals are always ingesting something new. Their genome has been altered by this event.

Mr. MAX: But it is essentially the same process. Prion diseases are unique in that they can occur by infection, mad cow disease. They can be inherited as with this family that cannot sleep. And they can also just occur by chance so, for instance, there are a handful of people at any one time in the world who've suddenly developed fatal insomnia. Prion diseases are the only diseases that can do this sort of three-part attack strategy.

SIEGEL: When the insomnia strikes, pills, drugs, sleeping pills, they do nothing to help?

Mr. MAX: Actually, sleeping pills, all the things we have in our medicine chest worsen the condition. One of the oddities of this disease because it's caused by prions, is that none of the conventional remedies for insomnia make any difference. In fact, what they do - and nobody has quite understands why -because they unleash a series of enacted dreams and fantasies and hallucinations. In fact, the patient is grateful when the drug is discontinued or stopped.

SIEGEL: You went to Italy to meet members of the family. One of whom is, I guess, she's a nurse and her husband is an internist, and they've actually seriously elevated the family's own study of its own situation. How do they understand this, do they know that the odds are half of them will die of FFI? How do they deal with this disease?

Mr. MAX: What's extraordinary about the family to my mind is that the family doesn't sit there waiting for the day when they begin to sweat it or their pupils become tiny like pinpricks. The family is alive. The family lives, loves and marries. Some have decided not to have children but for the most part they do what we all do.

Now one thing that I think is interesting about this disease is that it strikes quite late in life. It strikes in your late ‘50s typically. And family members for generations, although, never quite enunciating it at this way, had to decide, well, should I bring a child into the world who would live six happy decades only to have this absolutely grievous end or more accurately a 50 percent chance, because this is a dominant mutation.

SIEGEL: So half your kids would likely have this.

Mr. MAX: Half of your kids exactly a grievous end or do I forgo reproduction? Do I have a line end with me, and I think it's interesting and significant that for generation after generation the family has decided to have children.

SIEGEL: Given the - how few people in the world would suffer from this disease? What's the prospect for their ever being the kind of research investment that would be required to deal with it when after all it is a micro population of victims?

Mr. MAX: It's an orphan disease. And orphans are always in for a tough time in the middle world. On the plus side for the family's point of view is that mad cow disease lose an enormous amount of European research money into prions and prion diseases.

Now it's true that money was really mostly spent on trying to figure out how do you know whether a cow has mad cow disease, and secondarily, how do you cure the human form of mad cow disease. But by a kind of trickle sideways effect, the family members had been beneficiaries of a lot of this European research money.

SIEGEL: Well, D.T. Max, Daniel Max, thank you very much for talking with us today.

Mr. MAX: Thanks for having me.

SIGEL: Mr. Max's book is called The Family That Couldn't Sleep: A Medical Mystery.

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