Curious Cases - Fatal Familial Insomnia - Doctor Solve

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Curious Cases – Fatal Familial Insomnia

Fatal Familial Insomnia (FFI) is a very rare condition that affects the brain causing the complete loss of sleep, and eventually death. The condition is caused by a gene mutation that can be passed down to the children of those that suffer from FFI. However, FFI has only been found in 50 families worldwide.

The condition was discovered in 1974, by Dr. Ignazio Roiter who investigated a family who had a history of deaths by insomnia. The condition affects the thalamus, the part of the brain that is responsible for regulating sleep. Initial symptoms of the condition include insomnia, but progress to much more severe symptoms over time.

Generally, the condition begins to present itself in those ages 30-60, but most commonly in those of 50 years of age. The condition takes between 7-36 months to result in death. FFI has 4 stages of development. The first stage incorporates increasing insomnia, panic attacks, paranoia, and phobias. During the second stage, hallucinations begin to manifest, and panic attacks become much more noticeable. By the third stage, sleep is impossible and rapid weight loss begins to occur. Finally, in the fourth stage dementia sets in, leaving the patient unresponsive or mute until the patient dies.

Unfortunately, there is no current treatment for FFI. Scientists have tried some methods of possible treatment, such as gene therapy, but the treatments have been unsuccessful so far. However, there has been some evidence that suggests treatments that focus on the symptoms can improve the quality of life for a short while.

I can’t imagine how horrible it would be to slowly lose my ability to sleep and eventually die after months of agony and the very significant possibility of insanity. The worst part about this condition is the fact that there really isn’t a whole lot anyone can do to help. Unfortunately because FFI is such a rare condition I have a feeling a cure won’t be available for quite some time, but here’s hoping that someone finds out how to fix it.

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Former VP, CIPA Medical Affairs and Director, IPABC

Dr. Paul Zickler graduated from the faculty of medicine at the University of Western Ontario in 1972 and became an Emergency Physician. He practiced as an Emergency Physician for 18 years after which he co-owned and operated several ambulatory medical and travel clinics for 12 years and discovered his interest in prescription medicines. Dr. Zickler was a founding member of the Canadian International Pharmacy Association (CIPA) and was CIPA’s Vice-president for Medical Affairs. He has also served as an Associate Professor of Emergency Medicine at the University of British Columbia, the Director of Professional Programs for the Justice Institute of British Columbia (paramedic academy) and was the principal investigator for Phase 2 and 3 studies researching vaccines.

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