In the year 1991, a man named Michel A. Corke who was a music teacher at Chicago high school started developing strange symptoms. He was away enjoying himself during the summer break when he notices something unusual with his sleep pattern. He was 40 years old and was in good health. He did not have any medical history of any sort. So this situation was very bothersome for him.

 The unusual sleep pattern does not mean that he was waking up frequently during the night or having difficulty falling asleep which are considered common sleep problems. Corke was unable to sleep at all. 

As time passed, Corke’s lack of sleep started causing obvious physical and mental problems such as balance problems and trouble walking. Slowly he began showing signs of dementia. There were times when he could not relate to reality due to hallucinations. Corke started witnessing periods of hallucinations and he lost touch with the real world.

After a few months, Corke was admitted to the hospital. By this time, he was completely dependent on his family even for daily tasks such as bathing and dressing up. He was unable to communicate. His health was declining very rapidly. Initially, doctors diagnosed him with multiple sclerosis although he was not showing any symptoms of this disease and did not match any other patient having the same condition.

But soon, doctors noticed something unusual with Corke’s sleep pattern. At some nights, he seemed to be sleeping with his eyes closed but his brain never gets asleep at all. This is how he was diagnosed with fatal insomnia. This disease is recognized in the last decade and it disturbs sleep patterns in the start eventually leading to no sleep at all. Death is inevitable once you start having regular insomniac attacks.

Corke died just after six months of getting fatal insomnia. He was awake from six months which eventually led him to death.

What is Fatal Insomnia?

Fatal insomnia is a rare genetic disorder that disturbs sleep patterns. This condition worsens with time along with other physical and mental issues. Patients with fatal insomnia show a limited sleep time and even when it seems that they are sleeping, their brain activity indicates that they are fully awake and performing activities. This disease directly attacks the thalamus which is a critical element in regulating sleep patterns. As this disease progresses, up to 80% of the neurons are dead in the nuclei of the thalamus. 

INSOMNIA logo new
By- Wikimedia Commons

Fatal insomnia has two common forms:

Familial– This form of fatal insomnia is inherited. It is a genetic mutation inherited from a parent. 

Sporadic– In this form, the mutation occurs randomly at any stage of life and is not inherited from a parent.

What Are The Symptoms Of Fatal Insomnia?

There are multiple symptoms of this disease that tend to worsen over time. As the name suggests, insomnia is the most initial symptom that leads to more saver symptoms such as:

  • Dementia (confusion, forgetfulness)
  • Weight loss
  • Lack of appetite
  • A feeling of being too cold or too hot (it happens when the thalamus is not able to regulate body temperature properly)
  • Loss of muscle control
  • Loss of balance while walking
  • Loss of coordination
  • Problems in speaking or swallowing food
  • Memory loss
  • Hallucinations
  • High blood pressure
  • Increased heart rate
  • Increased production of tears
  • Constipation
  • Sexual dysfunction
  • Anxiety and depression
By- Penn State(Flickr)

Despite these common symptoms of fatal insomnia, people with different forms of fatal insomnia experience different symptoms. For example, in familial fatal insomnia, people face sleep problems at the start or fall asleep occasionally. They move and kick a lot during sleep and eventually unable to sleep at all. Mental functions are lost with time and heart rate increase along with excessive sweating.

However, in the sporadic form of fatal insomnia, early symptoms include loss of coordination and mental function. In this form, people may not report sleep problems but it can be detected through different ways of testing.

What Causes It?

Fatal insomnia is a very unusual disease that is passed through generations. It directly attacks the thalamus that controls emotions and sleep. There are only 24 reported cases of fatal insomnia familial (FFI) as of 2016. Sporadic fatal insomnia does not have much information available. The only thing that doctors know about this form of fatal insomnia is that it does not seem to be inherited.

Fatal insomnia familial is caused by a genetic mutation of the PRNP (Prion related protein) gene. These proteins are present in the brain but their exact function is still unclear. It directly attacks the thalamus which controls sleep patterns and the coordination of different parts of brain cells. This disease progresses gradually and the thalamus loses nerve cells leading to the fatal insomnia familial symptoms mentioned above.

This genetic mutation is passed to the next generations and it is believed that a parent with fatal insomnia familial disease has a 50% chance of passing it to his child. 

How is Fatal Insomnia diagnosed?

If you think you have any of the above-mentioned symptoms, you need to visit your doctor as soon as possible. There are multiple ways doctors can determine whether you have fatal insomnia familial or not. 

For examination, the doctor would ask you to spend a night in the clinic so that they can monitor your sleep pattern and brain activity while you are sleeping. Heart rate is also being monitored during sleep. All these examinations will determine the exact diagnoses by ruling out the other sleep-related issues such as sleep apnea or narcolepsy.

There is another test especially to monitor the function of the thalamus. It is called a PET scan. It will determine how well your thalamus is functioning. 

Cranial imaging of a FFI patient
By- Tingting Lu(Wikimedia Commons)

However, if you have a family history of fatal insomnia familial, you can get tested for prenatal genetic testing. 

How Fatal Insomnia is Being Treated?

Unfortunately, there is no cure for fatal insomnia till date. No sleeping pills or other medications can do to help these patients. All doctors can do for their patients is to comfort them as much as they can. 

There is no medical condition that should be taken lightly. Contact your physician as soon as you see any of the above symptoms of fatal insomnia. 

 

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