Author: Sheima Bana
Editor: Vishruth Nagam
If you enjoy books about scientific mysteries, history, culture, or if you’re even just an avid reader with a curious mind, look no further as this novel has it all. “The Family That Couldn’t Sleep” is a medical mystery novel written by the esteemed D.T Max, and it explores one of the brain’s deepest and darkest enigmas in the field of science.
The novel is centered around a Venetian family that suffers from a rare, genetic, neurological disorder known as fatal familial insomnia (FFI). As the name suggests, once members of the family who are affected by FFI reach their middle ages, they become deeply sleep-deprived and ultimately die from exhaustion. This condition occurs over a period of a couple of months to a year and a half. The family member would initially get less and less sleep and eventually become very restless, and as a result, the victim would be unable to get up as they would be overcome with an insurmountable exhaustion and eventually they die. I’m sure you’re wondering what prions areThe Encyclopedia Britannica states: “Prions are an abnormal form of a normally harmless protein found in the brain that is responsible for a variety of fatal neurodegenerative diseases of animals, including humans, called transmissible spongiform encephalopathies (The Editors of Encyclopedia, 2019).” One of the most glaring arguments Max doesn’t address is how a genetic disease waits until one is of a certain age before presenting its symptoms. Do the proteins eat away at the brain over time? Are the effects of FFI on the brain undetectable at a younger age?
FFI is typically the result of a mutation or “abnormal variant” in the PRPN gene, which regulates the production of the human prion protein and leads to an inability to sleep and inevitable death. However, the disease can occasionally affect people without an alternative PRPN gene, which is known as sporadic fatal insomnia (SFI) (Mastrianni, 2019). Interestingly, specific symptoms that have been observed are dependent on the branch of the autonomic nervous system (ANS) that is affected by the disease. The ANS is designed to regulate the internal environment of the body by carrying the signals from the internal organs to the CNS, and then back to the organs. The ANS can be classified further into parasympathetic and sympathetic nervous systems (Alila Medical Media, 2018).The sympathetic nervous system (SNS) is significant in the stimulation and mobilization of energy resources. For example, during a stressful situation, the SNS would initially increase energy to stimulate the sweat glands, dilate the pupils and bronchi, increase the heart rate, and heighten the blood pressure. On the contrary, the parasympathetic nervous system (PSNS) is responsible for the restoration and conservation of energy. The PSNS counteracts the changes in the body such as slowing down a person’s heartbeat, decreasing the rate of respiration, stimulating digestion, and removing waste products (Digman, 2014).
Throughout the novel, the writer researches and explores different variations of prion disease such as Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker (GSS) syndrome. CJD and GSS are uncommon neurodegenerative diseases caused by the accumulation of prions within the brain, which results in irreversible damage to the neurons by eating away at the brain. Perhaps several of my favourite parts of the novel include the insight into an indigenous cannibalistic tribe in Papua New Guinea, as well as the theories surrounding the rise of Mad Cow Disease in the UK and how it travelled to the United States.
Max narrates the stories of an indigenous tribe located in the South Pacific, who were notorious due to their cannibalistic traditions. Following the death of a tribe member, the rest of the families would eat the brains of the deceased as a part of their ritual. This led to an increase in the number of kuru cases, as a result of the consumption of contaminated brain tissue. Kuru bears close neurological resemblance to the Creutzfeldt-Jakob disease, as both result from prions found within the brain tissue. Symptoms included issues with coordination and movement, tremors and muscle spasms, and difficulties swallowing meant that the affected were malnourished and eventually starved to death.
Bovine spongiform encephalopathy (BSE), more commonly referred to as ‘Mad Cow Disease’ is Max’s way of showcasing a more recent transatlantic pandemic. BSE is a form of prion disease found in animals, specifically cows, who have been found to have prions affecting their brains. These infectious prions leave tiny holes in the brain, and thus the brain tissue strongly resembles a sponge when viewed through a microscope. Max consequently states that if humans were to consume meat from affected cows, the likelihood of developing CJD increases. During the 1980s and early 1990s, a mass outbreak took place in the UK, causing the British government to ban the consumption and feeding of meat products that may contain infected tissue. Nevertheless, many food products were indeed infected, and the number of BSE cases peaked in 1993 when approximately 1000 cases of affected cattle were reported weekly. One decade later, the first case of BSE in the US was detected in a cow in Washington, several more cases were reported between 2005 and 2006. This emphasises the long incubation period of fatal diseases such as FFI, BSE, CJD and GSS, and despite the tremendous efforts of searching for treatments, it is nearly impossible to locate and inhibit the effects of prions (Laplanche, J., Chatelain, J, 1993).
Figure 1: Graph shows BSE cases in the UK over the years (World Organisation of Animal Health, 2018)
I was most surprised by the characteristics of prions — they are highly resistant to heat, ultraviolet light, radiation, and disinfectants that normally kill viruses and bacteria. Prion diseases are the sole disease vector that can act via three methods of infection: genetic, direct contact (i.e. eating or touching infected tissue), and spontaneous (i.e. a protein accidentally misfolds in the body). Prions may infect humans who eat meat from infected cattle, and are ridiculously impenetrable, unpredictable, and nearly undetectable — a fact that is truly frightening.
All in all, D.T Max’s ‘The Family That Couldn’t Sleep’ is by far one of the most fascinating, eye-opening novels that I have ever come across. His style of writing draws you in as if you are binge-watching a series, and the power in his words and the depth of his research is remarkable! As someone who suffers from a degenerative disease himself, Max explains all of his research and thoughts so eloquently yet articulately, so that even those who know little about neurodegeneration or prion diseases are able to develop a solid understanding of the subject area.
References:
Alila Medical Media. (2018). Autonomic Nervous System: Sympathetic vs. Parasympathetic, Animation [Video]. Retrieved from https://www.youtube.com/watch?v=D96mSg2_h0c
BBC News Reporter, How BSE crisis shook our faith in food. (2018). Retrieved 25 December 2019, from https://www.bbc.co.uk/news/uk-45906585
Dingman, M. (2014). 2-Minute Neuroscience: Divisions of the Nervous System [Video]. Retrieved from https://www.youtube.com/watch?v=q3OITaAZLNc
Laplanche, J., Chatelain, J., Dussaucy, M., Bounneau, C., Launay, J., Brandel, J., . . . Grant, H. (1993). Inherited Prion Disease.BMJ: British Medical Journal, 306(6880), 794–795. Retrieved from www.jstor.org/stable/29719000
Mastrianni, J. (2019). Fatal Familial Insomnia — NORD (National Organization for Rare Disorders).
Retrieved 25 December 2019, from https://rarediseases.org/rare-diseases/fatal-familial-insomnia/
The Editors of Encyclopaedia Britannica. (2019). Prion | Definition, Biology, & Disease. Retrieved 25 December 2019, from https://www.britannica.com/science/prion-infectious-agent