Dead Tired: Understanding Sporadic Fatal Insomnia

I was diagnosed with insomnia when I was in my early 20's. Believed to be linked with my Post Traumatic Stress Disorder (PTSD), it has played havoc with my life ever since. When a person with insomnia lays down to sleep, they may find it impossible to fall asleep or, as in my case, they may sleep 2-4 hours before the body's internal clock wakes them up again. In between these sleepless nights, they will occasionally experience "crashes," where the body simply exhausts itself and the person falls into a deep sleep that commonly lasts 10 or more hours. This starts off a cruel circle of events, as the body overproduces chemicals that depresses the heart rate and slows breathing, making one feel tired. Upon waking, the person finds themselves even more exhausted, despite having slept the clock around.

In most cases, insomnia is caused by different external influences upon our life - things like anxiety, stress (as in my situation) or even our diet. In cases of sporadic fatal insomnia, however, the sleeplessness is caused by a prion protein interfering with the thalamus, a region of the brain. To date, all known cases of this variety of insomnia have ended in death.

What is Sporadic Fatal Insomnia?

If you've ever heard of "Mad Cow Disease" then you have heard of what a prion protein is capable of. The "Oxford Dictionary" defines a prion as "an infectious agent composed primarily of protein." These prions build up in the brain and, over time, destroy the nerve cells. Creating what are best described as sponge-like holes in the brain, prions attack the thalmus - the region of the brain that is responsible for regulating our sleep. Those who suffer from Sporadic Fatal Insomnia are robbed of their sleep and, usually in less than a year after the onset of SFI, are sapped of their very life.

Similar to the inherited condition known as Fatal Familial Insomnia, SFI differs only in that it affects people who do not appear to carry the genetic mutation of FFI. Instead, it is sporadic, striking random people without warning.

The Symptoms of SFI

Sporadic Fatal Insomnia usually strikes between the ages of 35 and 60 years, though the majority begin to develop symptoms sometime around the age of 50. The presentation and symptoms of the disease seem to vary from person to person, but doctors have narrowed it down to having four main steps. In most cases, SFI takes roughly 7-36 months to run through its course of these four stages:

Step 1: The patient begins to experience bouts of insomnia which grow increasingly worse. This leads to paranoia, anxiety and panic attacks, and can often lead to a variety of different phobias. In most cases, this will continue for roughly four months.

Step 2: Over the next few months, the patient's insomnia intensifies as do their hallucinations and panic attacks. By this point, their condition is more outwardly noticeable.

Step 3: As the patient loses all ability to sleep, they begin to rapidly lose weight and deteriorate. This stage usually averages about 3 months in length as they slowly waste away.

Step 4: By this stage in the cycle, the patient has usually slipped into full-blown dementia and gradually becomes less and less responsive. The ability to move and the ability to speak is usually severely hampered and many patients become mute.

In addition to these four stages, some patients have been reported showing symptoms such as pinprick pupils, excessive sweating, stiffness in the neck, or an elevated pulse and blood pressure. Women who are suffering with SFI will often enter menopause very suddenly and the condition has been known to cause impotence in men.

Treating Those Who Suffer from Sporadic Fatal Insomnia

Tragically, there is no treatment for SFI and attempts to lessen the symptoms have been unsuccessful as well. Attempting to medicate those who suffer from Sporadic Fatal Insomnia appears to only worsen the condition, often causing the patient to lapse into a coma or hastening their final days. To date, researchers continue to study both Sporadic Fatal Insomnia and Fatal Familial Insomnia, but gene therapy has also been unsuccessful.

To date, it is not known what leads to Sporadic Fatal Insomnia, how to treat it, or how to prevent it. Fortunately, prion diseases are very rare and researchers continue to work to try and find a cure for this frightening disease.

Sources:

http://abcnews.go.com/Health/story?id=3675223&page=1 - Information on Sporadic Fatal Insomnia and Fatal Familial Insomnia
http://www.afiff.org/new/ - The Fatal Familial Insomnia website
http://en.wikipedia.org/wiki/Sporadic_fatal_insomnia - Wikipedia information on SFI