A rare disease that causes death from lack of sleep? Let's learn about this (Fatal Familial Insomnia)

Do you also not sleep at night? Do you toss and turn for hours after going to bed? This is actually a common problem among many of us. But, have you ever thought that this kind of insomnia could be the first symptom of an extremely rare genetic disease that can even lead to death? Don't worry, I'm not saying that you have this disease. Because this is a very rare disease in the world. But it is very important to be aware of this. So today we will talk about this dangerous and extremely rare disease.

What is Fatal Familial Insomnia (FFI)?

Despite the word "Insomnia" in its name, FFI is not actually a sleep disorder. FFI is a rare genetic disorder that is passed down from generation to generation through genes. Simply put, it is a condition caused by a protein in our brain that is mutated and damages the brain. The disease is so rare that experts say that only about 100 people in about 30 families worldwide have been reported to have the gene that causes this disease. So if you are not able to sleep, the chance that it is due to FFI is very small, about one in a million. There is also a non-genetic variant of the same disease, which means that it occurs suddenly for no reason. It is called Sporadic Fatal insomnia (sFI). Experts still do not know exactly how it occurs.

Why does this disease occur? What is the cause?

The primary cause of FFI is a mutation in the gene `PRPN` in our body. This gene controls the production of a protein called `PrP`. Although the exact function of this protein has not been discovered, the mutation in the gene causes this protein to be formed in an incorrect shape. Then it becomes toxic to our body. These toxic, misshapen proteins gradually accumulate throughout our lives in a part of the brain called the thalamus . The thalamus is a center that controls many important things, such as our sleep, appetite, and body temperature. Over time, when these toxic proteins damage the thalamus, the damage causes the symptoms of FFI to appear. This genetic mutation is passed down through generations in an autosomal dominant manner. This means that you need to inherit one copy of the mutated gene from either your mother or your father to develop the disease. If one of your parents has this gene mutation, you have a 50% chance of getting it too.

What are the symptoms of this disease?

Symptoms of FFI usually begin to appear between the ages of 40 and 60. Although they start out very mild, these symptoms can quickly become severe. Let's take a look at what these symptoms are. Many of these symptoms are caused by both sleep deprivation and brain damage. Sadly, most patients die of heart attacks or other infectious conditions within 6 to 36 months (3 years) of the onset of symptoms.

How does a doctor diagnose this disease?

If your doctor suspects that you have FFI, they will perform several tests to confirm it.

• Asking about family medical history: Since this is a genetic disease, it is very important to find out if anyone in the family has had similar symptoms.
• Physical examination : Symptoms are carefully examined.
• Genetic testing : A blood sample is tested for a mutation in the `PRPN` gene.
• Sleep Study: Sleep patterns are monitored under special equipment in a hospital.
• Spinal Fluid Testing: Examination of cerebrospinal fluid taken from the spinal cord .

In some cases, if someone dies before the disease is diagnosed, FFI can be confirmed by examining the brain during an autopsy.

What are the treatments for this?

Treatment for FFI focuses on managing symptoms and providing the patient with as much relief as possible. Because it is a very rare disease, there is no standard treatment regimen. A team of health professionals, including a neurologist and psychiatrist, will work together to determine the appropriate treatment for the patient. Treatment typically includes:

• Providing vitamins and additional nutrients.
• Providing a well-balanced diet.
• If you are taking other medications that are making your symptoms worse, stop or change them.
• Giving certain sedatives or melatonin to help with sleep, as prescribed by a doctor.
• Providing counseling for psychological relief .

To prevent the disease from spreading to other family members in the future, the doctor may advise all family members to undergo genetic testing.

When should I see a doctor?

I repeat, if you have trouble sleeping, the chances of it being FFI are very, very low. So don't worry about it unnecessarily. However, if you have trouble sleeping for a long time, or if you have other symptoms such as confusion or difficulty walking along with your sleeplessness, see your doctor immediately. Because those symptoms may not be FFI, but they could be a sign of another treatable condition. Therefore, it is very important to get a proper diagnosis and seek the necessary treatment. Fatal Familial Insomnia, FFI, insomnia, genetic diseases, prion disease, sleep problems, brain diseases