We all need sleep to survive. Sleep is a natural process that allows the body to recharge, refresh and prepare (both physically and psychologically) for a new day of adventure.
Scientists understand the chemistry that causes us to become sleepy—the 24-hour cycle of hormones (such as melatonin) that release to prepare us for sleep—but the action of sleeping is often referred to as one of nature’s greatest mysteries.
Although we take sleep for granted—that it will come each night around a certain time and that we’ll wake up refreshed and ready to face a new day—there are some in the world who would give anything for a good night’s sleep.
There is a very rare disease called “fatal familial insomnia” (FFI for short) which makes it impossible for someone to fall asleep. And when I say that this disease is rare, I mean EXTREMELY RARE. Research shows that this inherited disorder has been discovered in only about 40 families worldwide (affecting about 100 people).
The name says it all—it’s a genetic disorder that’s passed down from parent to child to grandchild, and so on. If one parent has the gene, a child from that person has a 50% risk factor for inheriting the disease. If inherited, the genetic disorder may remain dormant for years before symptoms suddenly appear.
Fortunately, potential patients can now be tested for the gene to avoid having children and possibly passing FFI to them. There is, however, a non-inherited variant of this disease called “sporadic fatal insomnia” (sFI) which develops in a similar fashion to FFI but without the family genetic link.
The initial symptoms of both FFI and sFI appear as worsening insomnia that progresses to a complete inability to fall asleep. Within a month of such extreme insomnia, patients realize that they have a disease like no other.
Panic attacks, paranoia and various phobias begin to exhibit toward the end of that first sleepless month. Rapid weight loss follows shortly thereafter and, within the first six months, dementia sets in. The patient can become mute or unresponsive due to an inability for organize thought.
Death is the definitive progression of this disease, but that final outcome can take anywhere from seven to 36 months. The average survival span for patients diagnosed with FFI is about 18 months after onset of the initial symptoms.
The first known case—Patient Zero—is said to be an Italian man who died in Venice in 1765. By the time he died, he had passed on the genetic disorder to his children and the family curse initiated.
Scientists have discovered that FFI is caused by a mutation of a protein in the brain—essentially an inherited prion disease. Prions are amyloid particles (protein fragments) that develop from normal brain proteins when they “misfold” into flawed protein structures that can then transmit erroneous signals between cells.
I’ve written a blog in the past about prion protein diseases that cause disorders such as mad cow disease. FFI and sFI, however, are very specific prion protein mutations.
As a pharmacist, I realize that drugs can alter brain chemistry in such a way as to mimic FFI by creating chronic insomnia events. Particular drugs can generate an interesting cause and effect that might produce a nice plot twist for a villain searching for a dramatic method of torture.
Besides the usual suspects of caffeine, and possibly an array of herbal stimulants, chronic misuse of stimulant drugs such as methamphetamine (speed) and methylphenidate (Ritalin) can create extreme insomnia episodes.
There are also non-amphetamine-like drugs (Provigil and Nuvigil, for example) that alter brain chemistry and which are used therapeutically to enhance wakefulness and alertness. Such drugs, if misused properly, could produce an interesting extended episode of lethal insomnia.
Thoughts? Comments? I’d love to hear them!