Fatal Familial Insomnia : The Sleep Disease that Kills

Most people at some point in their lives have a time when they struggle to go to sleep. Maybe you toss and turn and can’t to sleep, or maybe you wake up in the night unable to return to sleep. It’s a difficult way to start your day, but usually it only lasts for a few days (or weeks) and then everything goes back to normal. But can you imagine being diagnosed with a condition that indicates you may never sleep again?

People with Fatal Familial Insomnia are truly dying from lack of sleep. And as this genetic condition often occurs in middle aged people, it is passed down through generations before they even know that they have it. This is a very sad disease that rapidly affects the structure of the brain.

An extremely rare prion disease that affects the brain, Fatal Familial Insomnia causes interference with sleep, results in serious mental deterioration and ultimately (as the name suggests) leads to an untimely death. Two forms of this disease exist, one (familial) which is passed on through genetic mutations and another (sporadic) which develops spontaneously without being passed down through genetic problems in the family.

This disease, once symptoms begin to develop, is rapidly progressing. It affects the thalamus part of the brain so that it has a direct impact on sleep as well as producing other difficult symptoms. Fatal Familial Insomnia can affect people in various life stages, from the late twenties to the early seventies, but the averages age of onset is forty years old. Life expectancy is short, between a few months to a few years.

Fatal Familial Insomnia Symptoms

For people who inherit this disease in a familial manner, early symptoms may include having difficulty falling asleep and staying asleep. This is very similar to typical insomnia and may not cause alarm in the beginning, but eventually it leads to the complete loss of the ability to fall asleep. Other symptoms for this condition are related to brain function, including:

  • Muscle spasms
  • Muscle twitching
  • Stiffness
  • Movement during sleep such as kicking
  • Inability to fall asleep or stay asleep
  • Complete loss of ability to sleep
  • Deterioration of mental function
  • Loss of coordination (ataxia)
  • Rapid heart rate
  • Increased blood pressure
  • Profuse sweating
  • Constipation
  • Impotence in men

People who develop this disease without a familial connection may appear with first symptoms of loss of mental function and decline in coordination. Sleep problems may not be reported at first in the sporadic form, but a sleep study may detect an abnormality that the person is not aware of.

Fatal Familial Insomnia Stages

This disease has four stages that can help doctors determine and guide a patient and their family through what to expect.

  • Stage One. Suddenly, sleep is inexplicably lost while mental health symptoms such as panic attacks and phobias. This stage lasts for approximately four months.
  • Stage Two. Sleep deprivation becomes more severe and panic attacks get worse. Hallucinations may present themselves as this stage lasts for about five more months.
  • Stage Three. Complete insomnia results in the inability for the person to sleep at all, taking its toll on mental health. Mental functioning is limited and weight loss is rapid. This stage may last for around three months.
  • Stage Four. This sad stage of the disease finds the patient living with dementia and often completely unresponsive, although they may be fully aware of what is happening to them. This stage may last around six months, ultimately leading up to the person’s death.

Fatal Familial Insomnia Diagnosis

In order to be diagnosed with this serious condition, a person needs to be first evaluated by a medical professional. A general practitioner will likely refer a patient to a specialist where arrangements for a sleep study will be made. If this disease runs in a person’s family, a parent is 50% likely to pass it on to a child.

A sleep study, called polysomnography, is an evaluation that is made in a sleep clinic where the person stays overnight. The clinic will probably resemble a hotel room more than a hospital room. The person will be allowed to get comfortable and be attached to various monitors that allow measurements to be taken of activity in the brain, muscles, breathing and more. Measurements of a person in a sleep study may include blood pressure, brain waves, oxygen levels, breathing, heart rate, eye movements, or leg movements.

Once a sleep study is conducted, a doctor will have a better understanding of what is happening in a patient’s body and brain during sleep. In the case of Fatal Familial Insomnia, this may give insight into how far the disease has progressed.

To confirm that a person does have Fatal Familial Insomnia of the familial variety, a genetic test must be performed. The most common test for this is the Positron Emission Tomography (PET scan) which can detect the presence of abnormalities in the thalamus. Genetic testing is not used for people with the sporadic variety of the disease.

Fatal Familial Insomnia Treatment

Indicated by the name, this Fatal Familial Insomnia eventually leads to an untimely death. Typical lifespan once symptoms begin is between seven months and six years. Life expectancy for the sporadic form of this disease may be slightly longer. Sadly, there is currently no cure for the disease but some supportive measures may be taken to ensure that the affected person is comfortable and symptoms are relieved as much as possible.


Alleviating the symptoms (particularly sleep deprivation) may help to provide temporary relief to a person suffering from this condition, but ultimately the only hope for finding a cure is research within the science of genetics. Some controversial trial testing has been performed on some people who carry the gene but were not yet symptomatic, but so far no conclusive treatment has been found.

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