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What is Fatal Familial Insomnia?

Insomnia is a widespread sleeping disorder that we all take for granted. Each person may have experienced it at one point in their lives. But did you know that there is a different kind of Insomnia that can actually kill you?

Fatal Familial Insomnia is a disease that completely prevents an individual from sleeping. It can start subtly but usually ends up in the individual’s death. Since it is rare, there are no known cures for it.

Fatal Familial Insomnia

Fatal Familial Insomnia, despite its name, is not a sleeping disorder. It is actually a degenerative nerve disease. It is known for causing sleep troubles and progressively worsens. The condition is due to an abnormality in the type of protein found in the body called a prion

According to studies, prion proteins are misfolded and spread to other prions. With fatal Insomnia, these faulty prions accumulate in the person’s thalamus. The thalamus, part of the brain, is responsible for regulating sleep. The accumulation of defective prion proteins leads to damaged neurons. This, in turn, causes brain and nervous system damage.

There are two types of fatal Insomnia. Fatal Familial Insomnia, otherwise known as FFI, and Sporadic Fatal Insomnia, otherwise known as SFI. Both share causes, symptoms, and projected outcomes. The only difference is that FFI is hereditary; the genetic mutation of prion proteins is inherited from the individual’s parents. While the SFI is not, people incurring this disease randomly develop faulty prion proteins.

Though the disease is highly uncommon, with only 1 in 1.5 billion occurrences, it usually leads to the death of the individual suffering from it. About 70 families globally could suffer from FFI, and only about 25 people reported having SFI. (Source: Sleep Foundation)

Symptoms and Stages of Fatal Insomnia

Both FFI and SFI share symptoms though the onset of the symptoms varies between the two. The first usual symptom for FFI is difficulty in sleeping and vivid dreams. In SFI, the reported first symptoms are not loss of sleep but cognitive problems or problems with speech and balance. (Source: Sleep Foundation)

These symptoms would then progress, causing several other additional symptoms such as:

  • Rapid heartbeat and breathing
  • Excessive sweating
  • High blood pressure
  • Memory and attention problems
  • Trouble maintaining balance
  • Trouble regulating body temperature
  • Mood changes
  • Weight loss
  • Double vision
  • Trouble swallowing
  • Difficulty speaking

There are four stages to Fatal Insomnia, and as the name implies, it usually ends in the individual’s death. These stages vary in length depending on the individual, with SFI stages lasting longer than the FFI. (Source: Sleep Foundation)

  • Stage 1 – lasts for 3 to 6 months. Insomnia appears and worsens. Vivid dreams may occur. Psychological symptoms like panic attacks and paranoia may also present themselves.
  • Stage 2 – lasts for 5 to 9 months. Mood changes appear or worsen. Nervous system damage presents increased heart rate, blood pressure, body temperature, sweating, and stress hormones. Trouble moving or walking may also occur.
  • Stage 3 – usually lasts about three months. The sleep cycle is severely disrupted, causing the individual to have extreme difficulty falling asleep.
  • Stage 4 – usually lasts up to 6 months. Prolonged difficulty in falling asleep may lead to the presence of dementia and difficulty in speaking. This usually leads to the individual falling into a coma and ultimately dying.

(Source: Sleep Foundation)

When to Consult a Doctor

You should consult your physician if you are experiencing any sleep problems or daytime sleepiness that significantly interfere with your daily life. Fatal Insomnia may present similarly to other diseases such as dementia and Alzheimer’s disease.

Though it is a sporadic disease, it is still good to have your physician rule out other illnesses if you experience persistent insomnia symptoms. (Source: Sleep Foundation)

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