Sleeping. Source: Flickr
What if one day you woke up and didn’t have the ability to fall back to sleep again? Unfortunately, this is the devastating reality for almost 50 families around the world today.
Fatal Familial insomnia (FFI) is a rare neurodegenerative disease caused by prions, which are abnormal forms of normally harmless proteins found in the brain. Since this mutation is dominant, in that one copy of this mutated gene can automatically lead to its expression, this disease affects both males and females equally. Furthermore, individuals with FFI normally present symptoms of this disease between the ages of 20 to 61 years old. These symptoms include an onset of dementia, speech problems, and coordination problems.
Dementia. Source: Flickr
The tragic family curse
Generation. Source: Flickr
FFI is a genetic disease, thus it is able to be passed on through generations. Fortunately, however, if one parent has this genetic mutation, there is only a 50% chance that it would be passed on to their offspring. Nonetheless, the following generations that receive this mutation eventually succumb to this disease without escape.
This inevitable disease causes death of neurons in the brain and the first symptoms are apparent at around the age of 50 and are followed by four symptomatic stages.
There are four stages that individuals with FFI encounter. The first stage is insomnia, which is followed by the second stage of hallucinations and severe panic attacks. The third stage is defined by weight loss and the total loss of the ability to sleep and lastly, the fourth stage is marked by dementia. Each of these stages are short as the rapid progression of FFI causes death within 12 to 18 months.
The main cause of death from this disease is due to progressive physical and mental deterioration, which is the consequence of one of the fatal symptoms of FFI, the inability to sleep.
Searching for a cure
FFI is a subtype of prion diseases which itself has no cure. Additionally, since FFI is a rare disease, it is still incurable as there has been limited research done on this disease. However, there are some potential treatments that are being examined today.
Currently, there is an ongoing 10-year trial being conducted on individuals that carry this genetic mutation. In this study they observe the effects of the antibiotic doxyclycline on pre-symptomatic patients, as researchers believe the use of this antibiotic may be an effective way to prevent FFI in individuals who carry this disease.
Sadly, effective long-term treatments for FFI are non-existent. Therefore, presently, short-term treatments are being used. One of these treatments include the used of sedatives, such as sleeping pills, which can temporarily help manage the symptoms of insomnia. However, its effectiveness varies from person to person.
Although FFI is a rare disease, it still affects families around the world today. Therefore, without a cure, this leaves families hopeless for their future ahead. However, with research currently being conducted, hopefully this can provide individuals with FFI a fighting chance to overcome this disease.
– Karina To
