Book: The Family That Couldn’t Sleep: A Medical Mystery

Author: D.T. Max

Type of Book: Non-fiction, diseases

Why Did I Read This Book: As a chronic insomniac, the title caught my eye. In a quick read of the synopsis, I realized it really was far beyond my little, “I can’t sleep,” problem, and it seemed extremely interesting. I had never heard of prion diseases before buying this book.

Availability: Published by Random House in 2006, you can get a copy here:

Comments: I will be the first to admit that while I find disease fascinating, I am not strong in science. So elements of this book required me to reread sections to understand fully how it is that prion diseases destroy the brain, what sort of substance prions really are, etc. However, as a person with an imperfect understanding of some science, I can say that D.T. Max does a very good job of making science accessible to a person like me.

The family that could not sleep is a family in Italy that suffers from a disease called Fatal Familial Insomnia. There are several other families in the world affected by the condition, so it is extremely rare. It is a condition that strikes family members generally in late middle age and causes them to begin to lose physical control of their bodies as they stop sleeping. They sweat, they develop a very distinct pinprick appearance to the pupils in their eyes, they stop sleeping, and in end stages, have virtually no control over their bodies. In many cases, those who suffered from it were assumed to be either crazy or chronic alcoholics, and there is not a thing that can be done to help them. So few people suffer from the condition, and a cure would be so expensive to find that there is little incentive for drug companies even to research the condition.

FFI is a genetically dominant, hereditary disease. As a person with the gene that causes the condition ages, something triggers prions, a mostly protein infectious agent, to cause the proteins in the brain to mis-fold. Proteins in the brain fold in a particular pattern – when that pattern is altered, it causes neurological damage, resulting in death. Suffers are generally dead within two years of showing symptoms and their ends are terrifying. Since the brain no longer works correctly, the pain and mental anguish sufferers experience cannot be controlled pharmaceutically. Some painkillers and sedatives actually make the symptoms worse. While FFI is a prion disease that is genetic, there are many other prion diseases out there that are contagious and this book explores how those disease became zootrophic – meaning jumping from animals to humans. It discusses in very accessible language how prions were discovered, the scientists who discovered the prion diseases, and the lives of those who became infected with prion diseases.

Max discusses in detail how one of the first recorded prion diseases, scrapie, evidently became the scourge of England when sheep began to be bred for meat yield. In the process of breeding for size, the sheep became bred to develop scrapie, a communicable prion disease that caused the animals to lose neurological function and die. Autopsied sheep show brains filled with holes where the mis-folding proteins destroy the tissue. Land where scrapie infected sheep lived and grazed has been left fallow for a decade or more, only to find the prion disease is still there. Once land is infected with scrapie, it seems unlikely it will ever disappear entirely, but luckily there are sheep that are still genetically immune to the condition and are not infected.

Prions are a tricky substance. They are not really alive – they are a protein but a protein is not a living substance. A thing that is not alive cannot really be killed, so as of now, there is no way to combat prions. Nothing can get rid of them. Some studies show that using quantities of bleach may be effective in controlling them but even those studies were largely inconclusive. Prion disease has been found when stainless steel surgical instruments were used on an infected patient, then completely sterilized afterward.

The book is a horror show, showing how other prion diseases, like Mad Cow Disease, have likely spread in localized attacks throughout the United States while attempts to control the disease were subject to political rhetoric and stalling to prevent harm to the US beef industry. The author also discusses how deregulation that Reagan encouraged has led to USDA agents who can do little about ensuring that Mad Cow Disease (bovine spongiform encephalopathy) remains out of the US food supply. The disease can lurk in the human body for years, even decades, before symptoms arise, and often, the disease is misdiagnosed as the genetic prion disease, Creutzfeldt–Jakob disease.

The real reason this book was amazing to me, however, was not how it terrified me but how well Max, a man who suffers from a rare neurological disorder himself, put a human face on the quest to discover the cause of disease and those who suffer from it, even when the face may not be so pleasant. For example, the disease Kuru, which struck down members of the Fore tribe in Papua New Guinea, was eventually linked to tribal customs of eating the dead. Kuru cut a large swath through women and children in the Fore tribe and it took researchers a while to get down to the cause, but when they did, it was sickening. Men got to eat the more “choice” cuts of the dead bodies, which meant that the brains were generally eaten by women and children. The brains of the dead, of course, housed the mis-folding prions. A condition that was likely hereditary became a near epidemic via cannibalism.

One of the men who discovered this condition, a man named Daniel Carleton Gajdusek, eventually won a Nobel Prize, and seemed particularly suited to life in Papua New Guinea. He eventually brought back to the United States many boys whom he appeared to have helped achieve much more education than they could have had in their native country. Seems noble but he molested at least one, and probably many more, and went to prison for it. It seems very clear that in addition to being able to research his life’s calling, Papua New Guinea was a place where Gajdusek could also prey on little boys with less risk of social censure. I am unsure why this fact, out of all the disturbing facts in the book, haunts me. That the genius to confront the worst nature can concoct can also be combined with the most repellent destructive actions man can commit against children is not something I like to think about.

But of all the faces in this book, the ones that matter most are those of Pietro and his family, the Italian family that has been stricken with Fatal Familial Insomnia. Pietro and his wife Albina had not been a love match. He had trouble finding a wife because his family was seen as siring madmen (sufferers from FFI often seemed insane at times). Albina was not an attractive woman and was almost 30 and in her time and mores, was likely to be a spinster so she consented to see Pietro as she did not seem to have other marriage options. They married in 1920 when she became pregnant. Despite these less than romantic beginnings, they had a happy marriage and had five children – four daughters, Isolina, Tosca, Assunta and Pierina, and a son called Silvano. Pietro was a successful man until WWII began and his town became fascist and deprivation struck the entire town. In the middle of chaos and war, Pietro started showing the first signs of FFI – sweating, pinprick pupils, insomnia, and his disease progressed quickly.

Pietro sought help, such as he could receive, from hospitals, but many times, the stays in the hospitals were as frightening as his disease, surreal experiences for his daughters and the wife who stayed by his side.

…in the middle of May 1943, he was back [in the hospital], accompanied by his oldest daughter, Isolina, and his wife. He stayed a week at the hospital and the visit was harrowing. Pietro was too heavy for the women to move to the bomb shelter, so they spent each night with their arms around him in his hospital room, praying, as Allied bombs fell from the skies and tears fell from his eyes. “Che guerra infame,” he said again and again, “what a miserable war.” He grew confused, somnolent and his legs began to jerk up and down. One time he got out of bed in the middle of the night and tried to open the window. “Don’t you see,” he said to Isolina. “Your sister Tosca’s here.”

I get very sentimental, thinking of the two women, arms over their beloved father and husband, praying that even worse would not befall them.

Pietro died a little over a year later, not even 50 yet, with Isolina and his wife by his side. Assunta, who was wracked with grief when her father died, developed and died from FFI, as did Pierina. Years later, Silvano also fell to the disease. Family members, determined to discover the disease that was decimating their family, diagnosed as encephalitis, nervous exhaustion, alcoholism, madness and similar, pushed the medical community, at a time when technology was finally catching up with the disease, to find out what it really was. Knowing has been of little help, and most of the family members do not want to know if they will develop it, living their lives, marrying, having children, and doing their best not to worry about the potential genetic ticking time bomb, praying they never look in the mirror and see pinprick pupils and become too restless to sleep.

This is an amazing book. It puts into perspective how human progress (some say greed) has caused us to manipulate animals to our detriment. How old customs, however bizarre and foreign funerary cannibalism is to most of us, can kill us. How politics can come before food safety. How hidden natural horrors can to this day level us like a house of cards. A fascinating read, and I recommend it highly.