Fatal familial insomnia

Fatal familial insomnia, the incurable nightmare.

We know that healthy sleep is necessary – here we see the other extreme, what about those who will never sleep again – ever.

Fatal familial insomnia (FFI) is a rare inherited prion disease that mainly affects the thalamus which controls the sleep-wake cycle. Progressive destruction of thalamic relay cells causes neural and autonomic disorders. the first recorded case was a Venetian man, believed to be a wealthy doctor in 1765. It is a familial disease and as time progressed, many of the family ended their lives at San Servolo, an asylum close to Venice.

Fatal familial insomnia, the incurable nightmare.

 The first recorded case was a Venetian, believed to be a wealthy doctor in 1765. As time progressed, many of the family ended their lives at San Servolo, an asylum close to Venice. In the past, doctors tried to institute sleep for those stuck in the state of hypnogogia, (pre-sleep) with barbiturates (opioids) but unable to enter deep sleep, they would simply pass between wakeful dementia and coma.

San Servolo, the asylum close to Venice

Other symptoms include profuse sweating, pinpoint pupils, the sudden entrance into menopause for women and impotence for men. Neck stiffness, elevation of blood pressure and heart rate, constipation is often seen too. As the disease progresses, the patient remains in a hypnagogic state, (which would be “pre-sleep” in healthy individuals.) During these stages, it is common for patients to repeatedly move their limbs as if dreaming.

Although almost all cases are due to a protein mutation (PrPc) recent spontaneous cases have been diagnosed. The mutated protein has been found in about 100 people (40 families).

The terrible outcome of FFI

The chronology, sudden and inexplicable onset of insomnia causes panic attacks, paranoia and phobias, lasting for about four months. With prolonged sleep deprivation, panic attacks and hallucinations become worse. Total insomnia causes rapid weight loss and mental dysfunction and delirium.  Finally, the patient suffers from dementia and unresponsiveness, lasting for up to six months, before slipping into a coma and dying.

Unexplained why, FFI appears in or past childbearing age and so was often passed on to children. In 1983 Dr. Ignazio Rioter an Italian Neurologist at the University of Bologna, received a patient’s (Silvano) brain donated for research in hopes of finding a cure for future victim, from this began the prion connection and predictive blood tests.

Dr. Ignazio Roiter

An account was written in 2002, following an examination of a patient, referred to by Ignazio Roiter, who belonged to an affected family. He was familiar with the clinical history of at least three patients whom he had followed from the onset of the first symptoms to the advanced stages of their disease.

He made the referral due to his opinion that numerous specialists who had been consulted by his relatives had not grasped the fact that the basic disorder was a progressive loss of the ability to sleep. He claimed that the patients would become ill and eventually die because they had lost the ability to sleep.

Effect of Fatal familial insomnia on sleep

Normal sleep has different stages that together last 90 to 120 minutes, which constitutes a ‘sleep cycle’.

  • Wakefulness.

  • Non-REM 1.

  • Non-REM 2. Light sleep

  • Non-REM 3. Deep slow wave sleep (SWS)

  • REM-sleep when memorable dreams occur

FFI patients cannot get past the first stage of sleep and therefore not achieving restorative sleep, which is that required to revive and repair, (most reparative processes of the body are believed to happen during these deeper sleep stages). For example, sleep physician and psychiatrist Ian Oswald observed that during slow wave sleep (SWS). The pituitary gland increases its secretion of growth hormones during this time as are many reparative processes active too. This discovery led Dr. Oswald to conclude that SWS restores the wear and tear bodily tissues gain throughout the day.

A case of Familial fatal insomnia in Holland

The first reported case in the Netherlands was of a 57-year-old male of Egyptian descent. Presenting with symptoms of double vision and progressive memory loss, his family had noted he had recently become disoriented, paranoid, and confused. While he tended to fall asleep during random daily activities, he experienced vivid dreams and random muscular jerks during normal slow wave sleep.

After four months of these symptoms, he started having convulsions in the hands, trunk, and lower limbs while awake. He died at 58 (seven months after the onset of symptoms). An autopsy was completed which revealed mild atrophy of the frontal cortex and moderate atrophy of the thalamus. The atrophy of the thalamus is one of the most common signs of fatal familial insomnia.

A case of Familial fatal insomnia in America

Another notable  case is that of Michael (Michel A.) Corke, a music teacher from Illinois, who was originally misdiagnosed with depression from MS and died in 1993, a month after his 42nd birthday, by which time he had been completely sleep-deprived for six months.

Michael began to have trouble sleeping before his 40th birthday in 1991; following these first signs of insomnia, his health and state of mind quickly deteriorated as his condition worsened. Eventually, sleep became completely unattainable, and he was soon admitted to University of Chicago Hospital with a misdiagnosis of clinical depression due to multiple sclerosis.

Medical professionals Dr. Raymond Roos and Dr. Anthony Reder, at first unsure of the nature of his illness, initially diagnosed multiple sclerosis, in a bid to provide temporary relief. In the later stages of his disease, physicians induced a coma with the use of sedatives, also to no avail as his brain still failed to achieve SWS. Corke died in 1993, a month after his 42nd birthday, by which time he had been completely sleep-deprived for six months.

Familial fatal insomnia – is there a cure?

A search for the cure of this and other prion diseases continues. Sleeping medications appear to not help, indeed may worsen the symptoms and speed up the process of the disease. To date, no cure has been discovered.


https://www.amazon.ca/Family-That-Couldnt-Sleep-Medical/dp/081297252X/?tag=stephenbray00-20

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