Fatal Familial Insomnia Essay

Published: 2020-04-22 15:06:56
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Category: Insomnia

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Sleep is a basic function that is one of the most natural and primitive actions that the body performs. But why? Sleep is not learned behavior. Sleep is an instinct with which we are born. The body is refreshed after sleeping. It is believed that sleep makes the body healthier by improving the immune system, repairing the body, and resetting the inner database. Researchers have conducted numerous experiments on the need for sleep, the effects on the body when sleep is missed, and the amounts of sleep that humans require at different stages in life. The amount of sleep that one requires depends on various factors.

For example, an infant requires approximately 16 hours of sleep throughout a 24 hour period. This need decreases as age progresses. Adolescents generally require approximately 9 hours of sleep and adults can average 7-8 hours and manage to function. What happens to the human body when sleep is deprived? Scientists have done numerous studies on the effects surrounding a lack of sleep. Headaches, muscle pain, irritability, dizziness, nausea, memory loss, slowed motor function are just a few of the effects reported. What happens when the ability to sleep is lost completely?

A condition known as fatal familial insomnia causes an individual to do just that. Instances of this disease have been described in Europe, North America, Asia, and Australia. (I) However, the disease is extremely rare and has been detected in less than 50 families worldwide. Death is inevitable to those with the disease as there is currently no known treatment or cure. The condition was first witnessed in 1974, by Dr. Ignazio Roiter after witnessing first-hand the progressive insomnia and rapid deterioration and death of a maternal aunt of his wife, Elisabetta.

In 1979, a second maternal aunt (sister of the first victim) of his wife began having the same symptoms as the first aunt. Insomnia, loss of motor function, dementia, and death started Dr. Roiter on a tailspin of research. He began looking deeper into this very long familial history of deaths surrounding very similar symptoms and characteristics. The causes of death were never as consistent as the symptoms noted. Causes such as epilepsy, fever, and mental illness were documented and given to the family.

(E) Over time, and using documents housed at the Catholic Church, Dr. Roiter was successful in creating a family tree of sorts dating back some 250 years. He was able to trace similar symptoms experienced and circumstances by which family members had died. His research brought him to 1765. The first documented instance was that of a doctor who happened to be the great-great grandfather of his wifes late aunts. It is believed that around 1764 or 1765, a genetic mutation took place within this prominent Venetian doctor.

Unknowing that this took place, the mutant gene was inherited by a vast majority of his descendants, many of which were institutionalized. ( c)

Dr. Roiter began to realize that insomnia was not merely a symptom of the condition he had been witnessing. Insomnia was the condition in and of itself (J) The disease struck the family again in 1983. Sylvano, Elisabettas maternal uncle, began to experience symptoms of the disease. The onset of profuse sweating was the first sign. He noticed that his pupils had changed and were now pinpoint and he was not sleeping as much as he was accustomed. Sylvano was sure of his fate and sought the help of Dr. Roiter. Researchers admitted Sylvano to a sleep clinic in Bologna, Italy in the spring of 1984 and began to study and analyze his every action.

Videos depicted him performing erratic actions such as combing his hair or buttoning his shirt. (E) Sylvanos condition progressed and he died a few months later. His body was devastated and destroyed by complete and total exhaustion. Sylvano did manage to perform a very selfless act prior to his death. He agreed to have his brain donated to the study of this dreadful disease. Fatal familial insomnia (FFI) is caused by a mutation in the PrPc gene and is classified as a prion disease. A prion is the result of a mutation of a normal protein within the brain.

B) These prions attack the thalamus, the part of the brain that is responsible for regulating and inducing sleep. (F) The symptoms of fatal familial insomnia are a result of the degeneration and malfunction of the thalamus. (B) Other functions affected by this malfunction are the bodys ability to maintain blood pressure, heart rate, core temperature and hormone flow. (B) Upon examination of the brain donated by Sylvano, it was noted that the appearance of the thalamus resembled that of a sponge with numerous holes. There have been 4 main stages of progression of the disease.

The initial stage, lasting approximately 4 months, presents with a decrease in sleep and progressing to insomnia. (B) Other symptoms in the first stage of the disease include profuse sweating, panic attacks, paranoia, and phobias. The pupils of the eyes become small and pinpoint. (D) During the second stage of the disease, the patient begins to experience hallucinations and panic attacks begin to worsen. Around 5 months later, at the third stage, sleep becomes impossible and total insomnia has set in, rapid weight loss begins take place, incontinence is common. This stage lasts approximately 3 months.

The fourth stage brings dementia, leaving the patient unresponsive or mute until the patient dies. Diagnosing the fatal familial insomnia consists of three factors. Combined with an accurate family history, the tell tale symptoms, and genetic testing, suspecting individuals can have a definitive answer and have the ability to know their potential fate. (A) If a person inherits this mutant gene they will suffer the horrible death of FFI. (B) The disease has been detected as early as 30 years of age in a small group of sufferers, but generally presents to the majority of sufferers around 50 years of age.

Currently there is no treatment for fatal familial insomnia. Researchers experimented with various sleep medications only to witness adverse results. Dr. Lugaresi, director of the sleep clinic located at the University of Bologna, explained that intravenous doses of barbiturates were used with some sufferers lapsing into a deep coma which accelerated their progression toward death. (B) Gene therapy has been discussed and tried but has not been successful. Gene therapy involves removing, replacing, or altering the defective gene within the body. This process must take place prior to onset of the disease.

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