family that couldnt sleep

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,

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.