What is Fatal Familial Insomnia?

Medical science is known to have made immense progress. Yet, there are certain medical conditions about which this discipline has no clue. Though these conditions are rare, it can be extremely depressing for the diagnosed patients to know that – There is no hope. One such condition is discussed here in this article – Fatal Familial Insomnia (FFI). You would probably thank your stars and feel blessed for getting the recommended 6-8 hours of deep sleep on a daily basis after knowing about this mysterious sleep condition.

Fatal Familial Insomnia Symptoms: First things first. Are you or your loved ones experiencing these below mentioned signs?

  • Insomnia – A condition involving either experience of difficulty in falling asleep or staying so
  • Progressive insomnia
  • Excessive sweating
  • Fever
  • Speaking difficulty
  • Hallucinations
  • Dream-like status
  • Stupor – Lack of critical cognitive function and level of consciousness
  • Coma – A profound state of unconsciousness
  • Tremor
  • Myosis – abnormal constriction of the pupil of the eye caused by illness
  • Sphincter disturbances – A circular muscle which constricts and relaxes to allow normal physiological functioning
  • Impotence for men
  • Menopause for women
  • Elevation of blood pressure
  • Constipation
  • Increased heart rate
  • Neck stiffness

Fatal Familial Insomnia Causes: This is an inherited disease of the brain. The chances of an off-spring developing this condition are 50 percent even if one parent suffers from it. The presentation of the disease varies from person to person even among the family members. All over the world only 40 families have been found to have this disease with total number of the patients being 100.

Cells are the building blocks of life and they follow genetic instructions to know their functions. The tasks are carried out by bodily proteins after the instructions are read. Owing to the uncontrollable factors in nature, the chemical structures of genes and proteins undergo change. This event is called mutation.

PrPSc is one such protein whose mutation causes this condition. What is frustrating to the medical professionals is the fact that neither the origin of the disease nor its progression can be addressed as of now placing it under the category of terminally ill diseases.

Genetic testing can forewarn about this condition however. The disease can onset anywhere within 35-60 years, with the average age being 50 years. Unfortunately, death usually follows the onset within 7-36 months. There are four stages of the disease. They are:

Stage One: It lasts for the first four months. The patient suffers progressive insomnia along with panic attacks, phobias and paranoia.

Stage Two: Lasting for five months, panic attacks and hallucinations become noticeable in this stage.

Stage Three: Within three months of this stage, the ability to sleep is completely lost leading to rapid weight loss.

Stage Four: It is the final stage of the disease lasting for six months on average, making the patient either mute or unresponsive and progressing steadily towards inevitable death. How painful it can be for the family members to deal with this phase of the disease!

Fatal Familial Insomnia Treatment: There is no cure or effective treatment for this condition. Even an advanced treatment method like gene therapy is not helpful in the case of FFI. Efforts are on to know more about the signs and provide a better quality of life to the patients.

Self-Management of Fatal Familial Insomnia: Vitamin supplementation, anesthesia, narcoleptics, growth hormone, stimulants, exercise, sensory deprivation, light entrainment and electroconvulsive therapy (ECT) are some of the methods which can induce sleep and delay the death.

In the case of a 52-year-old, white, American patient it was true as he could gain more time to survive by yet another year on following these methods. It is believed that most of the symptoms of this condition are secondary which can be addressed well leading to the delay of the death.

Further research can be focused on knowing more about the potentials of these methods in addressing the progression of FFI.

1 response to What is Fatal Familial Insomnia?

  1. I thankfully, don’t have this diseae but I lost a friend to familial Creuzfeld-Jakobs disease not long ago and it was horrible to watch him deteriorate and die. It must be terrible, not only not being able to sleep, but knowing also that it will kill you. I don’t know when a cure for prion diseases will be found, but the sooner the better.

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