Customer Reviews

The Family That Couldn't Sleep: A Medical Mystery

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In 1765 a doctor in Venice died of what was labeled "an organic defect of the heart's sack", but he many have been the first recorded victim of a strange disorder passed down to his many descendants into the twenty-first century. It had so many weird symptoms and was so rare that the victims were frequently misdiagnosed, often being dismissed as alcoholics in withdrawal, or as having meningitis, depression, encephalitis, and many other incorrect labels. The symptoms are appalling. The illness strikes adults who have no previous significant medical problems and may have started families of their own. A victim begins to hold up the head stiffly, and then sweats profusely; family members are terrified when these initial symptoms appear, as the others follow inexorably. The pupils contract to pinpoints, the heart goes mad with increased pulse and blood pressure, and sleep becomes impossible, no matter what drugs are used to bring it on. The victim knows what is happening until dementia takes over, followed by a coma and then death in about a year or two after the symptoms began. Nothing at all can be done to stop the progress of the illness, which is passed to one half of each succeeding generation. It is, however, becoming more comprehensible as we learn more about prions, those bad proteins. In _The Family That Couldn't Sleep: A Medical Mystery_ (Random House), D. T. Max has not only told the story of this particular illness, but also of other illnesses that are (or might be) caused by prions. It is a tale full of undeserving victims and flawed heroes, and it tells just how far we are from solving some basic biological riddles.

Proteins are what DNA codes for; because prions aren't alive, they cannot be killed; radiation, formaldehyde, and all ordinary sterilization procedures do nothing to them. You might get prions by having your DNA code for them; that's what happens in the Italian family that has Fatal Family Insomnia (FFI). That's pretty rare, but you might also get prions by eating them, as in eating cows with Mad Cow Disease. There are prion diseases of sheep and deer as well. A strange neurological disease in New Guinea called kuru unlocked some of the mysteries of prions (in this case, passed by cannibalism), and Nobel prizes have stemmed from this work. One of the frustrating parts of this story is that prion afflictions have often been brought about by people. No one intended to get any animal or human sick, but human intervention made it happen. Scrapie started afflicting sheep two centuries ago as a direct result of intensive breeding to make bigger animals. Mad Cow Disease was caused by the unnatural feeding of sheep cadaver protein to cows. Chronic Wasting Disease in deer seems to have been passed to them when sheep were held in pens used for sheep with scrapie, but also may come about when deer farms, pressed to produce bucks with bigger racks for hunters, fed the deer the same sort of sheep cadaver protein that the cows got. It also got spread when humans transported these deer to different regions of the country, a migration they could not have done on their own. We attempt to control nature, and in response, nature presents us with problems no one could have foreseen.

Max has given a clear history of prion diseases and our attempts to understand them. A surprising part of the prion story is that it gives evidence that our hominid forebears practiced cannibalism, and therefore the genes of most people show a protective trait that helps keep prions from causing disease. The positive part of the story is that we are not as ignorant about prions as we were four decades ago, and even that prion research may open up answers to possibly related neuromuscular and neurodegenerative diseases like Parkinson's and Alzheimer's. But what we know is overbalanced by what we don't. Max writes, "Not since Pasteur's time have researchers attempted to counter an infection knowing so little about what they are fighting." Not only that, but prion diseases are all brand new diseases, as diseases go, and some have been manufactured in the past few decades; there is no telling what completely new one will be in tomorrow's headlines.

Spanning two centuries, this book traces the origins of prions (and the terrible diseases they cause) to our current state of understanding.

The author's treatment makes this story stand out. What might have been a dry recital of discovery becomes of tale of greed, discovery, ego, opportunities both missed and taken, and the rigidity of belief. Along the way, we meet a family cursed with a genetic heritage that destroys lives with a disease that leaves the sufferer unable to sleep and fully conscious of a horrible fate.

I was particularly interested in this book because prion disease in humans is sometimes misdiagnosed as Alzheimer's. I came away with a clearer understanding of the types of prion disease and how they differ from each other and from Alzheimer's. I only wish the book could have ended with a clear answer to prevention and cure, but perhaps when that comes, Max will favor us with another tale.

Highly recommended!

Phyllis Staff, Ph.D.
author:
"How to Find Great Senior Housing," and
"128 Ways to Prevent Alzheimer's and Other Dementias"

This book was so fascinating, I was compelled to email the author and congratulate him on his work. The Family That Couldn't Sleep tells the thought provoking story of an emerging medical mystery that is likely to affect all of us in our lifetime. Woven into the story are fascinating details regarding the history, politics and evolving research of a potential health related epidemic in our country. Max is able to communicate a complex disease phenomena in a gripping fashion that is also accessible to lay people such as myself...medical degree not required!

DT Max has done a masterful job of using the device of storytelling and mystery to shed light on a disease of immense importance. Prion related diseases will come to overshadow bird flu, aids and other viruses in the next 20 years. This book is the best thing out there to gain a generalist understanding of the medical research that has taken 50 years to uncover. Nothing else in print comes even close.

A prion disease is an illness caused by a protein that has become deformed. A family in Italy suffers from an inherited prion disease called fatal familial insomnia (FFI). The disease usually strikes its victims when they reach their 50s. As one might guess from the name, FFI victims lose the ability to sleep. When the disease first strikes, they perspire, the pupils of their eyes shrink, and they hold their head in a stiff, awkward manner. Eventually, they can no longer walk. In a prolonged exhausted state until death, the patients are completely aware of what is happening to them. The Italian family was once the only known group with fatal familial insomnia. Now, however, there are around 40 families around the world known to have the disease.

The family has shunned publicity as much as possible. However, when they learned that author D. T. Max suffers from a neuromuscular disease that is also related to protein misinformation, family members began to hope that publicity would speed work toward a cure. Research uncovering information about FFI hopefully could help other diseases in which proteins become deformed.

Prion diseases fascinate scientists. They seem to be the only ones that attack in three forms: inherited, infectious and by random chance. Researchers think prions are unique because, although they are proteins, they can infect like viruses and bacteria.

Because it is so difficult to disinfect a prion, experts go to great lengths to avoid contamination. Radiation, boiling and heat won't kill prions. Scientists once opened a human brain afflicted with prion disease after the victim had been dead 20 years, and injected the brain tissue into lab animals. They all died of the disease.

The author carries us from the Italian family to other prion diseases, such as the sheep disease known as scrapie. In the 1820s, the mysterious illness threatened England's robust sheep business. Sheep afflicted with scrapie suffer such an itch that they scrape themselves raw against walls and fences. Eventually the sheep die. The many scientists who tried to discover the cause of scrapie failed.

In New Guinea in the 1950s, doctors discovered locals suffering another bizarre and puzzling illness, known as kuru. Victims, mostly women and girls, shivered, became glassy-eyed and cross-eyed, lost their balance, and died. Eventually scientists stumbled upon a connection to scrapie. Yet no one could prove exactly what the infectious agent was that caused these diseases until a chemist named Stanley Prusiner decided it was a "proteinaceaous infectious particle," which he dubbed a "prion." Prusiner created quite a stir in the scientific community, but mad cow was on the horizon --- and the experts' work had barely begun.

THE FAMILY THAT COULDN'T SLEEP reads like a combination anthropological and medical history, horror tale and sympathetic unveiling of a cursed family. At heart it is a well-told medical mystery. The colorful characters (including cannibals and quirky scientists) are detailed in a manner that makes them live on the page. The reader views the interlocking medical mysteries through the empathetic lens of the author. I highly recommend this book as a fascinating and terrifying read.

--- Reviewed by Terry Miller Shannon [....]

You may find yourself staying up all night to finish this fascinating book. Just be glad you don't share the wrong genes with the family of the title.

This account of prion-based spongiform encephelopathic diseases covers a lot of ground: the Italian family of the title suffering from FFI (fatal familial insomnia), the mysterious epidemic of kuru among the Fore tribe of New Guinea, eventually linked to the practice of eating their dead ancestors' brains, the rare genetically transmitted Creuzfeldt-Jacob disease (CJD), various animal spongiform encephelopathies, from scrapie in sheep to mad cow disease to chronic wasting disease in deer. All of these diseases share a common feature - they are transmitted by an infectious agent of a kind thought until recently by scientists to be impossible, and the incubation time from infection to manifestation of disease symptoms is remarkably long. The culprits are *prions*, which are a type of rogue protein. The idea that a protein could act as an infectious agent flew completely in the face of scientific received wisdom to date when first introduced and the science underlying this class of degenerative brain diseases is both complex and controversial.

The author's exposition is clear, but ultimately I think he does not do complete justice to the material (which is really fascinating). It may be that his scope is too ambitious - with so much ground to cover, the exposition occasionally lapses into sketchiness. To be fair, there can be no single "right" level of detail that would suit all readers, and D.T. Max generally shows good judgement about what to include to keep the exposition intelligible while moving his story along.

That said, the material related to kuru, cannibalism among the Fore, and the linkage to scrapie, CJD, and mad cow disease has already been presented in the 1998 book by Richard Rhodes, "Deadly Feasts: Tracking The Secrets Of A Terrifying New Plague". I preferred the Rhodes account - his exposition of the science was clearer, and I thought he told a better, tighter story.

However, there's not that much to choose between the two, and Max's book does have the extra material about FFI, which is interesting in its own right. Max does make one misjudgement, in my opinion, which is to include an account of his own illness (he has been diagnosed with Charcot-Marie-Tooth disease which, although it is a neurodegenerative muscular disorder, is neither prion-related nor an amyloid plaque disease). Inclusion of this essentially irrelevant material is a distraction, which just muddies the exposition.

One final criticism is that Max includes an unquestioning discussion of putative geographical "clusters" of CJD cases, based solely on their identification by patients' family members, whom he refers to as "Creutzfeldt Jakobins" (a hideous, tin-ear coinage, which he seems to think is clever). These so-called clusters are almost certainly spurious, based on an incorrect application of the relevant probability models and Max's failure to identify the error detracts from his objectivity as a science writer and contributes to a presentation of disease spread scenarios which are unduly alarmist. The discussion of possible treatment options in the final chapter also struck me as weak, an over-interpretation of what are essentially just anecdotal data. One sees this kind of over-interpretation all the time in the popular press, but I would have expected better from a science writer as experienced as D.T. Max.

However, these are minor criticisms of this well-written account of a fascinating subject.

For anybody interested in 4 hours of no sleep, buy this book. It is reasonably priced and fills a heretofore empty niche especially the parts written from the author's practical experience.
This is a timely and an imminently practical book that brings in a new way to look at old ideas. The rationale behind the book is simple and straightforward, which in those modern circumvallated times nicely fills in a gap in our knowledge of prions in general and insomnia disease in particular. It provides a pile of sound hypothesis, which would be abundantly cited in the future, if correctly tested, given how little we know about those infernal proteins.
D.T. Max, who hailed less than a yawn away from little Italy, Manhattan, is at his finest when discussing the fate of an Italian family hit by a rare prion disease that prevents his or her host from sleeping, and brings them to nap forever. The gains and frustrations of the search for the quest of sleeping are presented with new insights through the cold pillow of the family, and the warm fingers of the author. The causative agent of this fatal familial insomnia disease is believed to be a prion. As put clearly forward in the book, prion diseases or transmissible spongiform encephalopathies, for those addicted to Greek-rooted words, are a line of rare progressive neurodegenerative disorders that affect both humans and animals. A prion is simply a proteinaceous particle, and as scary as it can seem, could be an orally transmissible agent able to induce abnormal folding of normal cellular proteins in the brain. As D.T. Max eloquently pictures, prion diseases are usually maliciously progressive and always fatal, and are for example thought to be responsible for decimating New Guinea cannibals and British eaters of infected beef.
The idea of "target family" and "protein cross-talk" are all put on a firm foundation. The strength of the book lies in its well-documented accounts of the prion disease (each chapter is built on a long list of sources) as it changes its focus to ultimately become the insomnia pill. A close reading of the book lead to fascinating findings as well as some critical remarks on the prion disease and its belonging to the 21st century. The author put forward that some previous human prions can incubate for several decades in resistant human bodies, which suggests that our fate has yet to come and that future waves of deaths among people who ate beef from prion-infected cows in the 1980s, are going to break soon. This book will be of special interest, and an essential to any human beings involved in their own quest of truth, or not to mention the one of its species.

I read this book, loved it and gave it to my uncle, who works for the USDA. He was shocked that he hadn't heard of "fatal familial insomnia" and we spent most of Christmas debating whether we'd rather die of the bird flu or FFI.
This book is amazing and provides an incredible historical perspective on communicable diseases, prions, cannibalism and a myriad of other topics. I highly recommend this book for anyone who's interested in human history.

Overall, I enjoyed this book. The title is a bit of marketing, I think, since very little of the book talks about FFI, the sleep-robbing disease affecting Italian (and a few American) families. That said, the book is written well enough that I didn't mind the small bait-and-switch, as the author spends the majority of the book talking about mad cow disease and more obscure neurological diseases sharing a similar underlying cause: replicating proteins. One of the most interesting aspects of the book for me was the idea that the discoveries described are happening right now; this isn't a historical work. Except for a speculative short section claiming that humans were originally cannibalistic, the book seemed well researched and well thought out, and it moves quickly.

This book does a lot to clear up the story of prions, what they are, what they do, how their threat is real. The Italian family who gives the story its title is but one instance of prions affecting human and animal life. The research is impeccable, and particularly interesting is the process by which medical and veterinary sciences came together to begin unraveling the prion mystery. Because, to be accurate, documentation on how livestock has been affected by prion disease had been, until recently, far more complete and detailed than human prion disease.

The author tells the story unemotionally, which is good, but the reading is far from arid or too technical. The human factor -- how scientists competed for the credit, sometimes damaging other professionals' reputations and careers -- makes it even more interesting. All this makes "The Family That Couldn't Sleep" a fundamental work for anyone who wants to understand these proteins better, and also for people curious about the inner workings of scientific research.