Mrs.Lucysnow
Valued Senior Member
This is probably one of the most terrifying disorders I can possibly imagine someone having to experience.
"Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The dominant gene responsible has been found in just 50 families worldwide; 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.
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."
http://en.wikipedia.org/wiki/Fatal_familial_insomnia
Its said that the gene is found in only 28 families worldwide, why are there so few cases? I would have thought that as every member of the family who has the gene reproduces it would broaden the access of the disease. It was first discovered in the 70s. With a 50% chance of inheriting this disorder why has it taken so long for medical science to notice it? The symptom is so outrageous it couldn't possibly go unnoticed.
And does anyone know why sleeping pills are not only ineffective but worsens the disorder? Actually am I correct to call it a disorder is disease a better description?
"Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The dominant gene responsible has been found in just 50 families worldwide; 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.
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."
http://en.wikipedia.org/wiki/Fatal_familial_insomnia
Its said that the gene is found in only 28 families worldwide, why are there so few cases? I would have thought that as every member of the family who has the gene reproduces it would broaden the access of the disease. It was first discovered in the 70s. With a 50% chance of inheriting this disorder why has it taken so long for medical science to notice it? The symptom is so outrageous it couldn't possibly go unnoticed.
And does anyone know why sleeping pills are not only ineffective but worsens the disorder? Actually am I correct to call it a disorder is disease a better description?