The Family That Couldn't Sleep

In the introduction to the 2006 edition of The Best American Science and Nature Writing, editor and physicist Brian Greene (author of the excellent book Fabric of the Cosmos among others) has this to say about the genre of popular science writing:

Like master chefs, the best science writers pare away all but the most succulent material, trimming details essential to the researcher that would be only a distraction to the reader. And by carefully crafting narrative and using expository devices that showcase the drama of scientific exploration and discovery, popular works can maintain a high level of scientific integrity while making difficult and technical subjects not only accessible but moving and compelling. Good science writing can humanize the abstraction of scientific research by establishing visceral, meaningful connections to questions and issues we care about and by humanizing the scientific process itself. In Einstein's words, scientific research consists of "years of anxious searching in the dark for a truth one feels but cannot find, until a final emergence into the light." A reader who is led to envisage this search, I believe, will start to bridge the gulf between the science and the humanities. The best science writing can have that effect.

Never were truer words spoken than when applied to the book The Family That Couldn't Sleep: A Medical Mystery by D.T. Max.

I purchased this book for my wife, the erstwhile nurse, for Christmas after hearing an interview with Max on NPR's Science Friday. After she finished and recommended the book, it sat on my night stand amongst the collection of books that are either in the queue or in various stages of completion. After finally finishing Team of Rivals by Doris Kearns Goodwin and Diamond Dollars by Vince Gennaro (I told myself I wouldn't start another until those were complete and I'll write more about the latter in the future) I picked it up and found it even more interesting than I had first imagined.

In short Max tells the story of the research that led to the discovery of prions (pronounced "pree"-on by most but "pry-on" by the British) and their role (such as the state of current research can figure out) in a variety of neurological diseases in humans and other species from the kuru of the Fore people of Papua New Guinea to scrapie in sheep, mad cow disease or BSE (bovine spongiform encephalopathy) in cows and CWD (chronic wasting disease) in deer, to GSS (Gerstmann-Straussler-Scheinker) to CJD (Creutzfeldt-Jakob) and finally to FFI (fatal familial insomnia) which forms the core of the story around which the book is written.

Prion diseases, so the theory goes, are infectious bits of protein that are abnormally structured and cause other proteins with which they come in contact with to fold incorrectly as well through a process akin to crystallization. They are especially fascinating since they appear to be the only kind of disease that takes three distinct forms. Some are inheritable like FFI (termed genetic), others are infectious like Mad Cow, and others (although Max admits in the Afterword that he doesn't really believe this is possible) are accidental (termed sporadic) as is the case with CJD. Prion diseases are also important because they're akin, although not the same much to the disappointment of researchers, to diseases like Alzheimer's, Parkinson's and Huntington's where defective proteins play a role. Beyond the obvious benefit of helping those who suffer from prion diseases, the hope is that understanding even those diseases that effect relatively few (BSE has killed less than 200 people worldwide despite widespread fear that it would kill millions) will lead to breakthroughs in these diseases that do affect millions.

Just as in Greene's description of what the best popular science writers do, Max humanizes this complex and still not well understood field through the use of two very human stories. The first centers on an Italian family (one of 40 such families in the world where a child of a person with FFI has a 50% chance of contracting the disease) whose various branches have likely suffered from FFI since at least 1765. It was then that, ironically enough, a Venetian doctor probably contracted FFI, a disease which typically strikes around 50 years of age and causes its sufferers to sweat profusely, their pupils to contract to pinpricks, as they eventually to lose sleep to the point where they often hallucinate and eventually die of exhaustion. In the end their brains, especially that part that controls autonomic (not under conscious control) impulses like sweating and sleep, are almost entirely eaten away as misfolded proteins ravage the brain. Max traces the disease to the present day recounting the lives and deaths of many of the family members and the family's struggle to come to grips with the implications of their disease in the modern world where research holds out some hope of progress. Having some understanding that the disease is brought on by stress, most of the family had lived under the unspoken rule that, as in the words of one family member, "the best way to prevent the disease was not to mention it." Much of that has changed thouhh and now the family has even created an association to raise money and reach out to other FFI families.

Interspersed with this often heart wrenching account is the story of the scientists who first encountered the prion disease kuru in humans (spread through the funerary feasts of the tribe where body parts of dead relatives were consumed) after "first contact" with the Fore people in Papua New Guinea in the 1940s. The most interesting character in this vein of the story is Carlton Gajdusek, the scientist with pedophillic tendencies who worked among the Fore tribe and who received a Nobel Prize for his work on prions. Max then chronicles the various lines of research and accompanying animosity in the scientific community as well as perhaps the most polarizing figure, Stanley Prusiner, who also won a Nobel Prize and coined the word "prion". This part of the account takes on the air of a mystery while discussing the various approaches and theories that came and went in the years since kuru was discovered. From that perspective the book appears to be fair in its attribution of the contributions made not only by Gajdusek and Prusiner but many others as well who often did not receive the credit due them. And most importantly Max is up front in acknowledging what we don't know and gives the reader a sense of the uncertainty, hence the mystery, still to be solved. That may not always be satisfying since we love our stories to have endings, but is intellectually honest and I think that's all we can ask of any writer.

Woven into both these stories are a good deal of the political and social history of the kuru epidemic, scrapie in sheep going back to the late 1700s, Mad Cow in England in the 1980s and 1990s, and finally CWD and the hint of Mad Cow in America in the present even detailing the conspiracy theories of the "Creutzfeldt Jakobins", as Max calls them, who believe there is a massive cover up underway. In the end, Max is hard on the British and American governments and uses the infectious transmission of prions as an object lesson in the dangers of human arrogance.

An excellent book and one that exemplifies what is best in popular science writing.