If you have not been sleeping for days already, it is imperative to visit your doctor, have yourself checked to rule out the possibility of having a fatal familial insomnia.
Fatal familial insomnia, or FFI, is a very rare kind of disease. In fact, there are only 40 families in the whole world that are known to have that disease which translate to approximately 100 people. However, even though only one of the parents has the gene of the disease, there is a still 50% chance that the offspring will inherit FFI. Nevertheless, there are still instances that a patient will develop FFI even though he or she doesn’t have a parent with FFI.
Definition of fatal familial insomnia
According to MedicineNet.com, an online medical dictionary, fatal familial insomnia is a genetic prion illness that is characterized by abnormalities in motor skills (ataxia, dysarthria, dysphagia, pyramidal signs and myoclonus), disrupted sleep (insomnia) and by the autonomic nervous system’s hyperactivation. Moreover, it is said that FFI is due to the missense of the prion protein gene at codon 178 on chromosome 20.
The History of the Disease
The first recorded case of FFI was in 1974 by an Italian doctor whose name is Ignazio Roiter. He knew two women who came from one family wherein both of them died because of insomnia. Based on a more extensive research, he found out that the family records of the two women also showed a very long history of deaths that was caused by insomnia.
However, other researchers believed that the disease even began over 250 years ago. According to them, there was a Venetian doctor who was believed to have carried the first mutated gene. He died due to the disease in 1765 wherein some of his children also died from the said disease even before they reach adulthood. But, two of his children managed to reach adulthood and passed the disease to their children. All of them also died because of the same sickness and over time, it has been passed through generations.
Signs and Symptoms of FFI
The average age where FFI attacks is at the age of 50. However, that typically varies from 35 to 60 years of age. Moreover, there are instances that FFI occurs even on a younger age though it can be detected by genetic testing prior to the onset of the disease. But when FFI attacks, death usually follows after 7 to 36 months.
Based from various sources, the different signs and symptoms of FFI are hallucinations, insomnia, coma, stupor, fever, progressive insomnia, myosis, tremor, involuntary muscular contraction, difficulty in speaking, having a dream-like status and sphincter disturbances. Further symptoms include pinprick pupils, profuse sweating, and sudden entrance to impotence for men and menopause for women, high blood pressure, stiff neck and even constipation.
Nevertheless, because of the many symptoms of FFI, there are times that it is being misdiagnosed. There are instances that mental disorder or restless leg syndrome is being diagnosed instead of FFI. However, one thing is for sure. All FFI patients will undergo four stages before they reach their fatal end.
The four stages of fatal familial insomnia are as follows:
First Stage: This stage usually last for four months wherein the occurrence of insomnia will increase that result into paranoia, panic attacks, and phobias.
Second Stage: The stage continues for approximately five months wherein panic attacks as well as hallucinations will become more evident.
Third Stage: The stage typically last for three months wherein total lack of ability to sleep is experienced. It is typically being followed by a rapid loss in weight.
Fourth Stage: This is the final stage of the disease, which usually results into death. During this stage, the patient turns into being unresponsive and he stops speaking over the period of six months.
Treatment
It is very unfortunate that until now, there is still no known treatment to fatal familial insomnia. In addition, using sleeping pills as well as barbiturates does not contribute to the improvement of the disease. Instead, they only worsen FFI and even accelerate the onset of the disease. Lastly, up to now, gene therapy is still not successful. However, there are evidences that if the treatment will focus on the symptoms, then the quality of life of the patient can be improved. But, that is still not possible as of the moment.
So, when a patient has been diagnosed with fatal familial insomnia, it is best to concentrate on managing and treating the symptoms of the disease. Indeed that death is inevitable, but when compassion and love have been shown to the patient, he will feel comfortable may possibly extend his life here on Earth.