Fatal Familial Insomnia Explained: Early Symptoms And Treatment


🌙 Written by Kai Riverstone, international lucid dreaming expert and teacher. Learn how to lucid dream in 7 days or less.

Fatal familial insomnia (FFI) is classified as a transmissible spongiform encephalopathy or as a prion disease. It’s different to normal Insomnia

Two things characterize prion disorders:

  • The long incubation period (meaning that abnormal prions build up during years)
  • Short clinical duration (when symptoms appear on the surface, the disease rapidly spreads)

There are three prion diseases: Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia (FFI).

Accumulation of misfolded prion proteins in the brain is the only thing that causes these three diseases. 

What is fatal familial insomnia?

Fatal familial insomnia is a rare genetic brain disorder. More precisely, it’s a degenerative brain disorder.

It starts with the familial term we know as insomnia. Mild or strong inability to sleep is the first step towards FFI. In this case, insomnia is not the center of disorder, so treating it won’t fix your FFI. What insomnia does is damages and deteriorates your physical and mental functions.

Individuals who have fatal familial insomnia are developing dysfunction of the autonomic nervous system. It’s the part controls automatic body process (things we do without thinking about them because we’re so used to them or have no control over them), a.k.a. involuntary process.

Some involuntary procedures done by mind and body together are: regulating body temperature, breathing, regulating the heartbeats, sweating, etc. 

Symptoms that affected individuals experience depend on which part of the autonomic nervous system is affected.

Fatal familial insomnia is caused by the PRPN gene – prion-related protein gene. Without the PRPN gene as the cause, people will suffer from different kinds of insomnia called sporadic fatal insomnia (SFI).

Prion-related protein gene has a goal to regulate the production of natural prion proteins, but this appears to be toxic for misfolded prion proteins.

When your body deals with this environmental problem, it becomes friendlier for prion disorders than usual.

How does a friendly environment for FFI look like? Toxins spread to fight, but they spread more than they’re supposed to. Your body then experiences a lack of nerve cells.

It keeps losing neurons, while various symptoms start to build up inside, waiting for the system to fail. Symptoms then go to the surface to show and alarm you that you’re suffering from something.

The worst part of this is that there’s no cure for fatal familial insomnia yet. However, researchers are trying to figure out the best treatments for FFI and how to manage living with this kind of disease.

Causes of fatal familial insomnia

Gene mutation of the PRPN genes plays a critical role in multiple functions of the body. Gene mutation leads to overproduced, faulty, inefficient, and absent protein products.

Every protein has its own role, depending on which it can damage certain organs, your brain, and parts of the body system.

Fatal familial insomnia is the type of disease that appears even without a family history of the disease. This is called the de novo variant.

The gene variation happens at the time of egg or sperm formation for only the child in question. That’s why other children are not in danger of getting the same disease. 

This gene isn’t a “carrier” gene, meaning that affected ones can’t inherit or pass it to the future children.

Genetic diseases are created by a combination of genes from mother and father chromosomes, where one side (dominant side) carries abnormal gene patterns that are necessary for disorders.

Abnormal genes can be:

  • Inherited by one dominant side
  • Result of new mutation while combining two sides where both have 50% or more similarities

The sex of the resulting child isn’t important in any case when looking into prion disorders. 

There are different and rare cases where FFI comes as a result of a similar disease.

This can happen only when there are no variations of prion protein genes, but the person has sporadic fatal insomnia (SFI).

SFI occurs less than FFI and appears randomly – so we can’t prevent it at the moment.

If you don’t treat it, SFI can progress fast and make changes under genes, making it easy for newly created genes to lead to fatal familial insomnia.

The biggest issue is that PRPN genes produce PrP, otherwise known as prion proteins. Sadly, we still don’t understand their function.

Your body also can’t understand what to do with PrP or where to send them, so it automatically develops abnormal 3-dimensional shape that’s sent to misfolded storage.

A misfolded PrP is toxic, especially for the nervous system. It spreads deep into the thalamus, which is a part of the brain used for regulation of sleep, appetite, body temperature, etc.

This destroys neurons and can lead to serious brain damages such as gaps in the brain and sponge-like holes in the deepest part of the thalamus.

This triggers the first appearance of symptoms.

Symptoms and signs of fatal familial insomnia

The first sign is progressive insomnia that can’t be stopped, no matter how well you treat it or try to treat it.

First signs of regular mild insomnia start during middle age. It can appear earlier in life with pauses, although this doesn’t happen as frequently.

It starts mildly but progresses quickly, which means that the affected person will get little to no sleep in only a month or two. When you finally manage to fall asleep once in a week, you will probably experience vivid dreams and nightmares.

This is a stage where you won’t have more than two hours of sleep per day. In most cases, you’ll experience nightmares while you’re asleep, which could lead to mental diseases and physical deteriorations. Sadly, this kind of sleep deprivation can lead to death.

While insomnia is the first symptom, there are more of them as the disease progresses. Dementia is essentially a problem with trying to control your thoughts that result in behavior, cognition, memory, and language. 

The three stages are:

  • First, you experience weight loss and forgetfulness
  • Second, inattentiveness and problems with concentration
  • Last, speech problems occur.

As this progresses, you start to experience daily episodes of confusion and hallucination that can go on for a long time.

Some affected individuals experience different symptoms, such as:

  • Diplopia: episodes of double vision
  • Nystagmus: abnormal eye movement known as jerky eye movement
  • Dysphagia: problems with swallowing
  • Dysarthria: slurred speech
  • Ataxia: trouble coordinating voluntary movements
  • Myoclonus: muscle spasms (tremors or twitching muscles)
  • Parkinson’s

This list above includes the first symptoms that can be combined. Unfortunately, this is just the tip of the iceberg as more symptoms develop over time.

Additional symptoms that appear are more damaging than common ones.

People experience dysfunction of the autonomic nervous system. When the autonomic nervous system is damaged, you’ll experience common symptoms such as:

  • Strong fever
  • Tachycardia: rapid heartbeat
  • Hypertension: high blood pressure
  • Hyperhidrosis: increased sweating
  • Increased production of tears, inability to control tears
  • Constipation
  • Variation of body temperature, switching body temperature multiple time a day
  • Sexual dysfunction (including erectile dysfunction)
  • Anxiety
  • Depression

In reality, you should see your doctor as soon as possible. Sometimes, you can even do this without an appointment, and that’s if you experience one of these problems:

  • Sleeping problems:difficulty falling asleep, daytime fatigue, anxiety, and more frequent nightmares.
  • Behavioral problems:when you’re being annoyed more than usual or about things that you never had problems with before. Emotional instabilities, sudden anger or sadness, and equally as sudden peace. You may also see and hear things that aren’t really there.
  • Movement disorder: A problem with coordination (eye or limb coordination), as well as problems with balance while walking.
  • Autonomic dysfunction problems:irregular heart rhythm, frequent temperatures, fevers, problems with swallowing, fast breathing without any previous activity, fluctuations, changes in temperature (hot and cold switches during the day).

Affected populations

As we mentioned, this disorder is very rare.

The exact percentage of the affected population is unknown because a lot of people can suffer without recognizing the disease. It’s because the symptoms are similar to many other diseases.

Sporadic fatal insomnia (SFI) is recognized only in two dozen of people. In this case, there were no indications of any other diseases, meaning that SFI was the only left option.

Sporadic fatal insomnia can lead to fatal familial insomnia over time, so the symptoms change while the disease progresses, making it that much more difficult to recognize what’s happening.

Prion disorders affect about one in 1.000.000 million people in the general population over one year. This helps to understand how rare the disease actually is.

Rare diseases often go undiagnosed or misdiagnosed, which can be fatal for the patient who is treated wrongly because it can lead to death.

Around 15% of people who have fatal familial insomnia or sporadic fatal insomnia are recognized, but only 2% are diagnosed on time.

FFI often affects people between 45 and 50 years old, even though we know that it usually occurs in middle age. Few cases were diagnosed in the teen age, and doctors were able to figure out the right diagnosis only because the individuals had a perfect health record before the disorder happened.


Trying to diagnose fatal familial insomnia can take months and even years. The doctors first recognize and monitor the symptoms. Then, a detailed clinical evaluation shows what’s wrong once you take quite a few specific tests.

That’s the only way you can diagnose this kind of disorder.

At this point, you’re probably wondering what does this looks like. Take a few minutes to read about it in the text below.

Clinical tests and workups

In most cases, people don’t have a clue what’s happening, although symptoms show serious gene problems. A patient is then put under clinical testing known as molecular testing.

Molecular genetic testing detects an abnormal variant of the PRPN gene that can help to discover this kind of disease. The testing is approved and practiced only in highly specialized laboratories.

Doing gene tests in regular hospitals can’t really help because these hospitals typically don’t have the high tech equipment that allows them to discover small toxic abnormalities in gene code.

A popular sleep study called polysomnography can be performed on potentially FFI affected people to show and demonstrate a reduced amount of sleeping time. At the same time, it shows difficulties in the transition of thoughts during different stages of sleep.

PET scan or position emission tomography is an advanced test. This advanced imaging technique is very useful for the diagnosis of fatal familial insomnia. PET scan provides a 3D image that reflects the brain’s activity or shows reduced thalamus activities.

Most hospitals do have MRI and CT, which can be helpful.

MRI is magnetic resonance imaging, while CT is computerized tomography. CT usually can’t show any abnormalities that will point prion to diseases or lead to FFI diagnosis.

MRI is a different story. MRI can be useful because it goes deeper than CT, showing abnormalities in the scan that support and lead to prion diseases. This is just one small step to diagnosing FFI.

Why can’t CT show abnormalities related to fatal or sporadic familial insomnia while MRI can?

CT is a combination of computer and x-rays that create a film that shows the cross-sectional image of your brain’s tissue structure.

MRI, on the other hand, uses a magnetic field that goes deeper through our brain, creating a cross-sectional image of specific orangs and tissues using radio waves.


FFI can cause death after some 12 to 18 months after the symptoms appear. A common range of life is 12 months to up to several years only if you discover the disorder in its early stages.

Although this brain-damaging disease can’t be cured, researchers all over the world continue to develop all kinds of treatments to drastically improve life with FFI or put off its final stage.

Standard therapies

Because there are no useful cures for fatal familial insomnia, all therapies are just multiple of standard treatments of symptoms.

Treatments are based on how strong the symptoms are. The first thing you should do is to make a list of symptoms, scaling them from the most progressed ones to those that appear the least.

For example, if you’re only dealing with fever, or blood pressure, you can treat them with simple medication therapy.

Breathing problems can be dealt with using inhalators, while movement disorders require antipsychotics. Vitamins B6, B12, folic acids, and iron can stabilize your system and biorhythm.

Melatonin may induce sleep – only light sleep, which means that patients can’t reach any deeper stages of sleep. 

Although specialists are aware of the toxic side effects, they still include quinacrine (anti-parasitic medication) in fatal familial treatments.

Dealing with a symptom such as insomnia requires sleeping pills, although they can damage the mechanism of deep sleep in your brain.

Treatments work as direct hits on the symptoms. This requires work from the doctors but also coordination and advising from:

  • Neurological specialist
  • Psychiatrist specialist
  • Psychologist specialist
  • Pain specialist
  • Social worker team that will monitor the whole family
  • Healthcare professionals that will take care of the patient 24/7

All specialists we mentioned above work together to systematically and comprehensively plan and deal with the treatment.

Treatments need to be monitored all the time because even a slight change can be deathly if it’s not caught early.

Genetic counseling is highly recommended as well and not only for FFI affected individuals but for their families too.

The unfortunate fact is that there aren’t general protocols and guidelines on how the treatment should look. Every patient is a specific case because of the many factors such as:

  • Patient history
  • Lifestyle
  • Brain function activity volume
  • Stage of disease
  • Body’s pain range

The only common thing in each case of FFI is meditation with professionals, which is just a small part of the treatment.

It’s practiced for two reasons, such as to relax brain waves in order to activate brain activities naturally and also to decrease the level of pain.

Affected patients can’t use any kind of medication that decreases brain activities, worsen insomnia, or cause memory loss.

Find a specialist

As we said, the disease is very rare, and there aren’t many people who had to deal with it. Most of the people who know anything about it are those who studied it in universities or tertiary medical centers. These professionals are fully prepared to study the most complex cases.

These people also have big budgets that allow them to study rare diseases. For this reason, we advise you to see a specialist in case you suffer from FFI or think you do.

Although national and international specialists cost a lot, it’s the best option you have for your health when it comes to dealing with such a rare disease.