Insomnia is one of the most common sleep disorders you can think of but the thought of having fatal insomnia is actually terrifying. Curious, I researched about fatal familial insomnia and here’s what I found.
What is Fatal Familial Insomnia? Fatal Familial Insomnia is basically a rare type of insomnia that is inherited through genetic mutation and is fatal enough to cause death after several months.
Fatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, confusing states like that of dementia, and eventually death.
Though it can be inherited, the condition itself is rare which is why people that get diagnosed with fatal familial insomnia are only given a warning that their children can potentially inherit the condition.
Insomnia is when you are having a hard time sleeping, but fatal familial insomnia means the level is severe, it’s enough to cause death.
Unlike regular insomnia which can be controlled with the help of sleeping pills, fatal familial insomnia is a lot more difficult to cure.
There is even a case of a patient that was put into coma, but their brain still remained awake throughout the duration of their comatose, making sleepless nights helpless.
Sleep deprivation will slowly eat away your life and affect your overall health which is why some people end up becoming depressed.
The problems sleeping typically start out gradually and worsen over time. It is a prion disease of the brain or caused by a mutation to the protein.
Fatal familial insomnia has two forms, first is the autosomal dominant and second is sporadic fatal insomnia. The age of onset is variable, ranging from 18 to 60 years, with an average of 50.
The presentation of the disease varies considerably from person to person, even among people within the same family.
Symptoms
Fatal familial insomnia has different symptoms depending on the stage of the disease, it has four stages that will determine its severity. The average survival time from onset of symptoms is 18 months.
- 4 Stages of Fatal Familial Insomnia:
- Increased insomnia, experiencing panic attacks, paranoia and worsening the effects of phobias. This stage lasts for about 4 months.
- Experiencing hallucinations, stronger panic attacks that lasts for 5 months.
- Complete inability to sleep followed by rapid weight loss that lasts for about 3 months.
- The extremely severe stage that causes dementia which may cause a person to become unresponsive or mute for a period of 6 months. The final stage of the disease that leads to death
- Other symptoms of Fatal Familial Insomnia:
- Excessive sweating
- Myosis / Miosis
- Pinpoint pupils
- Early menopause or sudden menopause
- The inability to become fertile and be pregnant for women
- Early impotence or sudden impotence
- Erectile dysfunction for men, or the inability for the penis to stay erected during sexual activity
- Stiff neck
- Elevated blood pressure
- Disrupted sleep will affected blood pressure and may cause it to increase
- Increased heart rate
- Sleep activities can affect the heart and the inability to sleep will weaken the heart due to an increased heart rate
- Constipation
- Hallucination
Please keep in mind that experiencing one or more of the following symptoms does not automatically mean that you have fatal familial insomnia as it can be signs of other illnesses as well.
To fully understand your condition, consult your doctor.
Diagnosis
Diagnosing fatal familial insomnia can be done through a sleep study (polysomnography) PET scan, and genetic testing.
It is also highly encouraged to see a doctor for general physical examination to see if there might be other conditions that may be mistaken for fatal familial insomnia.
- Sleep study
- Sleep studies are non-invasive and can help diagnose several sleeping conditions to determine the cause and proper treatment. (Related: “How to Do a Sleep Study?”)
- PET scan
- Positron-emission tomography is a nuclear medicine functional imaging technique that is used to observe metabolic processes in the body as an aid to the diagnosis of disease.
- Genetic testing / DNA testing
- Genetic testing confirms the fatal familial insomnia
Usually, the patient will have to go through different types of examinations to determine what type of condition they may have, but the DNA test is the final step that confirms the illness.
Complications
Fatal familial insomnia have similar complications and it cannot be treated. The disease is invariably fatal. Life expectancy ranges from 7 months to 6 years, with an average of 18 months.
- Worsens other illnesses
- Causes hallucinations
- Causes delirium
- Dementia
- Depression
- Anxiety
- Stress
- Death
As of now, there are no other known complications for fatal familial insomnia but it surely does decrease the quality of life in a person and affect their surrounding people as well.
Causes
As of today, fatal familial insomnia causes are still unknown and continue to be studied by health experts for proper treatment.
- Genetic mutation
- Sporadic form – very rare
There are people who may not go diagnosed but we deeply encourage everyone to get diagnosed in case they are experiencing the signs or symptoms of fatal familial insomnia for their own sake.
Getting properly diagnosed can also help contribute to medical research that can potentially help future generations.
Treatment
Fatal insomnia has no known cure, but the best that our medical knowledge can do is treat its symptoms and try to relieve patients from the stress it can cause.
It has been studied that sedatives such as sleeping pills and central nervous system depressants like barbiturates do not actually help ease the condition but in fact, it does the opposite and worsen the disease.
Using these drugs can hasten the condition and result in immediate death.
History
The first recorded case was an Italian man, who died in Venice in 1765.
In late 1983, an Italian neurologist / sleep expert Dr. Ignazio Roiter received a patient at the University of Bologna hospital’s sleep institute.
The patient was known only as “Silvano”.
Silvano decided with his mind clear that he would donate his brain to be recorded for future studies and for research in hopes of finding a cure for future victims.
However, as of today, there is unfortunately, still no known cure.
In 1998 40 families are known to carry the gene for fatal familial insomnia globally. They consist of 8 German, 5 Italian, 4 American, 2 French, 2 Australian, 2 British, 1 Japanese, and 1 Austrian families.
In 2011, another family was added to the list when researchers found the first man in the Netherlands with fatal familial insomnia. While he had lived in the Netherlands for 19 years, he was of Egyptian descent.
As of 2016, 24 cases of sporadic fatal insomnia have been diagnosed.
Unlike with fatal familial insomnia, sporadic fatal insomnia do not have the D178N mutation and they all have a different mutation in the same gene causing methioninehomozygosity at codon 129.
A music teacher named Michael Corke who was from New Lenox, Illinois, had one of the most notable cases with fatal familial insomnia. He started to have a hard time sleeping before turning age 40 in 1991.
He experienced the first signs of insomnia as his health and mind became deteriorated while his condition worsened.
Since it was becoming too difficult to handle, he was admitted to the University of Chicago Hospital where the physicians were highly curious or puzzled by his condition.
Physicians attempted to put Corke into a state of coma with the use of sedatives and even when he did went into coma, his brain still failed to shut down completely.
Two years later, in 1993, Corke passed away after being completely sleepless for a straight 6 months.
Other cases of Fatal Familial Insomnia
Two unnamed people from Schenkein & Montagna in year 2001 also had cases with the disease. One person was able to exceed the average survival time by nearly one year by using various strategies.
His strategies involved vitamin therapy, meditation, using different stimulants. hypnotics and even complete sensory deprivation in an attempt to induce sleep at night and increase daytime alertness.
The person managed to write a book and drive hundreds of miles during that time but still, despite the perseverance and desire to win the battle against the condition, the person still faced death after going through the four stages of fatal familial insomnia.
Related Questions
Why are prions so dangerous?
Prions are infectious proteins responsible for the mad cow disease and other brain declining conditions.
The misshapen versions of normal proteins found in the brain will spread the infection and cause normal proteins to refold into a pathological conformation.
Does Insomnia run in families?
Yes, insomnia can run in families but not all the time. However, when it does, it suggest that insomnia has a genetic basis as noted by researchers.
Fatal familial insomnia is a type of insomnia that is inherited from families and is fatal to the point that it can cause death after several months.
Can Insomnia be inherited and passed down from parents?
Yes, fatal familial insomnia is a type of insomnia that is inherited from families and is fatal to the point that it can cause death after several months.
Insomnia can be hereditary as it shows to run in families but not all the time. However, when it does, it suggest that insomnia has a genetic basis as noted by researchers.
