Fatal Familial Insomnia: When Sleep Never Comes

Fatal familial insomnia (FFI) robs people of their sleep. And because there is no cure, the disease eventually takes their life.

fatal familial insomnia

Fatal familial insomnia (FFI) is an inherited prion disease that, as the National Institutes of Health notes, affects the brain and other parts of the nervous system.

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Insomnia takes on many forms and has many causes. For some people, stress or depression keeps them from getting a good night’s sleep. For others, the problem is prescription medication or too much caffeine. And for many people, advancing age, an underlying medical condition like Parkinson’s disease, or just poor sleep habits are to blame.

But in extremely rare cases, a brain condition known as fatal familial insomnia (FFI) robs people of their sleep. And because there is no cure, the disease eventually takes their life. Fatal familial insomnia is an inherited condition, while a related disease called sporadic fatal insomnia has no genetic component. Fewer than 100 people worldwide are known to have the disease.

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What Causes Fatal Familial Insomnia?

Both fatal familial insomnia and sporadic fatal insomnia are among a group of conditions known as prion diseases. This is because they are diseases that affect prion proteins, which are found throughout the brain. People with the disease have a mutation in the gene responsible for manufacturing prion proteins. This mutation leads to the formation of abnormal prion proteins, which clump together in the brain and damage healthy neurons.

In the case of fatal familial insomnia, the gene is passed from one or more parents to their child. With sporadic fatal insomnia, the prion proteins spontaneously change into the unhealthy versions. It’s unknown how or why this happens.

Fatal Familial Insomnia: Symptoms and Diagnosis

Unlike other prion diseases that can affect various regions of the brain, fatal familial insomnia and sporadic fatal insomnia primarily affect one part of the brain—the thalamus. This is the part of the brain that helps control your sleep/wake cycles. These conditions damage the thalamus to the point at which the brain remains in a state of wakefulness.

Symptoms often develop gradually. You may have increasing difficulty falling or staying asleep. You may twitch or kick involuntarily while you sleep. Eventually, sleep becomes impossible.

As you know, sufficient sleep is vital for the health of your brain and the rest of your body. It’s necessary for the memory and cognitive functions of the brain to operate normally. Sleep also plays an important role in energy conservation and the regulation of hormones and our metabolism.

The physical and psychological symptoms of fatal familial insomnia and sporadic fatal insomnia include panic attacks and hallucinations, an accelerated heart rate, excessive sweating, and wild mood swings. As the diseases advance, weight loss and dementia occur. A patient with fatal insomnia may become mute toward the end of his life.

Death may come within a year of symptoms developing or it may take up to five or six years, depending on how quickly the disease progresses. Usually, fatal familial insomnia and sporadic fatal insomnia develop in adulthood, between the ages of 30 and 50.

Diagnosing the problem starts with a doctor’s review of symptoms. Fatal familial insomnia can be identified through genetic testing. Sporadic fatal insomnia involves a sleep test that measures electrical and muscular activity in the body while sleeping (or trying to sleep), and positron emission tomography (PET). PET scans can provide detailed images of how an organ, such as the brain, is working.

Outlook

Sadly, there is little doctors can do to treat fatal familial insomnia or sporadic fatal insomnia. Medications to help patients sleep have only mild, temporary effects. They usually cannot slow down the progress of the disease. In some cases, sedatives have worsened symptoms.

In one case, doctors tried to induce a coma in an Illinois man with fatal familial insomnia, but they found that the brain activity associated with wakefulness was still going on.

The greatest hope for a cure lies in gene therapy. This can involve replacing a mutated gene with a healthy copy of that gene or targeting a mutated gene and preventing it from causing more damage. Gene therapy research also looks at how a new gene can be given to a patient to fight a disease.

It may be some time before such treatments are possible, but research is ongoing. And anyone who is part of the few dozen affected families is encouraged to undergo genetic testing before having children.


Originally published in 2016, this post is regularly updated.

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Comments
  • kevin l.

    I have not slept for 3.5 years and think I have this sffi and I am concerned I do not know who can test for this and I am very afraid please can you help or guide me in the right direction thankyou I am so desperate

  • kevin l.

    I have not slept for 3.5 years and think I have this sffi and I am concerned I do not know who can test for this and I am very afraid please can you help or guide me in the right direction thankyou I am so desperate

  • Hi, what may have started with depression, anxiety, lead to Insomnia that lead to loss of weight. Back in September 2017 I did not sleep for 7-10 days. Sleeping pills did not work at all. My mother suffers from not sleeping and is taking pills to help her to sleep. I am still suffer from Insomnia.
    Been in hospital for 3 weeks to see why I was loosing so much weight. I had an MRI test came back all fine. That still does not explain why I am not getting a restful night sleep.

    Insomnia began suddenly and has steadily worsens over a period of a few months 21 August 2017- Present day 17 April 2018. That is almost 8 months with hardly any rapid eye movement. I am battling to walk short distance get out of breath. Battle to talk only few words . I battle to do the basic like take a shower. At least I can type to get this message across. Feels like my brain is on pause. Switched off. Feels like can only open and close my eyes. My eyes get so heavy that they close for a short while then open again thoughout the day and night. I can’t work or do much during the day. Feels like I am dead but I am alive. Feel trapped in this body. It’s worst than death. Going to see a sleep Dr. Look forward to your response.

  • Johanne B.

    Dear Kevin I really feel for you, I have not slept at all for 19 months. I had some very strange feelings in my head previous to this such as ear fulness, dizziness, feeling like i had water in my head and sometimes I didn’t know where I was. I have had to give up my job and every minute of the day is torture. Nobody believes me which makes it even worse and my partner has had enough of me, I am a different person because of the underlying worry. I am trying to get tested myself, I have been referred to an insomnia clinic by my doctor and am awaiting a sleep study. I can’t believe I am still alive. I have a 26 year old son and I am devastated. I just lay on the sofa all day, I can’t even be bothered to wash, life is unbearably sad. i know I have ffi or something similar and if I could just get diagnosed at lease my family could actually understand why i am acting the way I am. Have you had any tests of been to your doctor, how do you feel in yourself. with kind and best wishes johanne

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