I had recently caught an episode of Nation Geographic Explorer about a new discovered disease called Fatal Familial Insomnia or FFI. The narrator described a devastating and horrific disease in which the individual sufferers from perpetual insomnia. The disease begins between one's 40s-50s and gradually transforms the sufferer into a shuffling zombie whose pin prick pupils stare out at a distance in which sleep is just beyond their reach.
The brain desperate for sleep begins to allow dreams to creep into consciousness. The waking dreamer acts out their dream in a forever endless play that never is fully realized. Ultimately, the individual is unable to function in any capacity falling into a coma and then death.
Insomnia can wreak havoc on the body and mind. During sleepless nights due to insomnia, I would fear and wonder if I had ruined my brain during a somewhat experimental youth. Will I be afflicted with Fatal Familial Insomnia? Will I be dying to sleep?
Later, I learned that Fatal Familial Insomnia or FFI, is a rare congenital disease caused by prion. There disease is so rare that only 90 families in the world have been identified.
What is Fatal Familial Insomnia?
Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited priondisease of the brain. It is almost always caused by a mutation to the protein PrPC, but it can also develop spontaneously in patients without the inherited mutation in a variant called sporadic fatal insomnia (SFI). The mutated protein, called PrPSc, has been found in just 40 families worldwide, affecting about 100 people; if only one parent has the gene, the offspring have a 50% chance of inheriting it and developing the disease. The disease’s genesis and the patient’s progression into complete sleeplessness is untreatable and ultimately fatal.
Presentation
The age of onset is variable, ranging from 30 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following childbirth. Death usually occurs between 7 and 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.
The disease has four stages, taking 7 to 18 months to run its course:
The patient suffers increasing insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months.
Hallucinations and panic attacks become noticeable, continuing for about five months.
Complete inability to sleep is followed by rapid loss of weight. This lasts for about three months.
Dementia, during which the patient becomes unresponsive or mute over the course of six months. This is the final progression of the disease and the patient will subsequently die.
Other symptoms include profuse sweating, pinprick pupils, the sudden entrance into menopause for women and impotence for men, neck stiffness, and elevation of blood pressure and heart rate. Constipation is common as well.
Treatment
There is no cure or treatment for FFI. Gene therapy is so far unsuccessful. While it is not currently possible to reverse the underlying illness, there is some evidence that treatments that focus upon the symptoms can improve quality of life. [2]
Recently, a mouse model was made for FFI. These mice express a humanized version of the PrP protein that also contains the D178N FFI mutation. [3] These mice appear to have progressively fewer and shorter periods of uninterrupted sleep, damage in the thalamus, and early deaths, similar to people with FFI.
Related conditions
There are other diseases involving the mammalian prion. Some are transmissible (TSEs) such as kuru, bovine spongiform encephalopathy (BSE, also known as “mad cow disease”) in cows, and chronic wasting disease in American deer and American elk in some areas of the United States and Canada, as well as Creutzfeldt-Jakob disease(CJD). These are generally not considered to beed tissue, transfusion or transplantation.
transmissible except by direct contact with infected tissue, such as from eating infected meat.
National Geographic Explorer – Fatal Insomnia
All of us have an occasional night when we can’t fall asleep, but for people with fatal familial insomnia, or FFI, it’s the beginning of the end. An extremely rare genetic disease passed down through generations, FFI’s primary symptom is sleeplessness – but with a fatal twist. Victims are dead within months. To understand FFI, Explorer delves into the science of sleep – the most elusive biological function we have – to find out why we need sleep and what happens to us when we don’t get it.
