Rare genetic condition where patients can never sleep again

Fatal familial insomnia, a rare genetic disease that causes sleep difficulties, dementia and involuntary muscle contractions, has no cure and worsens over time.

Symptoms, however, can be slowed through treatment, but it’s temporary, according to the Cleveland Clinic.

According to data provided by the National Organization for Rare Disorders, FFI is estimated to affect 1 to 2 people per million each year.

FFI is passed from parent to child, and 50 to 70 families worldwide are suspected of carrying the genetic mutation that causes the condition.

What causes FFI?

A neurodegenerative prion disease, FFI is caused by a mutation in the PRNP gene that produces prion protein. Prions are misfolded versions of normal proteins. Their unusual shape causes toxicity in the body’s cells, more specifically in the neurons of the brain, according to LiveScience.

The thalamus is one of the tissues damaged and is the area of ​​the brain that regulates a number of body functions, including sleep, temperature and appetite.

Children need to inherit only one mutated PRNP gene from a parent to develop the condition, but in rare cases, people can develop mutations in the PRNP gene even if they do not have a family history of FFI. They then pass this mutation on to their children.

What are the symptoms of FFI?

The most noticeable symptom of FFI is insomnia or the inability to fall asleep. The symptoms worsen over time and at some point the patient cannot sleep at all.

These patients also experience memory loss, high blood pressure, hallucinations, and involuntary muscle twitching or twitching. They may also sweat profusely and lose coordination and concentration.

These symptoms begin around age 40, but can develop in a person’s 20s or as late as 70. Patients eventually end up in a coma and usually die within nine to 30 months after their symptoms appear.

There is no treatment to cure the disease, but the symptoms can only be slowed down.