OVERVIEW

Fatal Familial Insomnia (FFI) is an ultra-rare, neurodegenerative prion disease that destroys the brain’s ability to sleep, and causing muscle spasms leading to death within an average of 12 to 18 months. It is caused by a genetic mutation that targets the thalamus, the brain region responsible for regulating sleep-wake cycles. it typically begin between the ages of 20 and 70 (most commonly around age 40 to 50). There is currently no cure for Fatal Familial Insomnia (FFI) it is extremely fatal. FFI is degenerative, which means symptoms get more severe over time some medicines help you fall asleep, like melatonin supplements, only temporarily work to treat fatal familial insomnia (FFI). Studies found that sedatives (barbiturates or benzodiazepines) are an ineffective treatment. It can only be delayed by taking B6, B12, iron, folic acid, hospital care and psychosocial therapy.

There’s no cure for fatal familial insomnia (FFI). After a diagnosis, treatment is symptomatic to make you feel more comfortable, with palliative care. The life expectancy for a person diagnosed with FFI is poor — especially after symptoms start, where the life expectancy ranges from a few months to a couple of years. The condition is progressive, which means it gets worse with time.

Families are encouraged to participate in therapy to discuss care options not only for the person diagnosed with the condition but to emotionally support themselves and prepare for the sudden loss of a loved one.

Cause

FFI is an autosomal dominant prion disease, meaning a person only needs to inherit the mutated gene from one parent to develop it. A sporadic form (SFI) occurs spontaneously without a genetic mutation.

When there’s a mutation on the PRNP gene, the amino acids that build the PrPC proteins don’t have instructions to build the proteins correctly. This mutation is similar to folding your laundry. If you’re unsure how to fold a t-shirt, you might ball up the fabric and put it in a drawer. Over time, that drawer progressively becomes difficult to close because you collect several t-shirts that aren’t folded correctly. Misfolded t-shirts are PrPC proteins that collect on your brain and become toxic to the cells in your nervous system, which creates symptoms.

Symptoms

Symptoms of fatal familial insomnia (FFI) begin between the ages of 20 and 70. The average onset of symptoms is age 40.

Symptoms of fatal familial insomnia include:

• Difficulty sleeping that gets worse over time (progressive insomnia).
• Nervous system overactivity including high blood pressure, a faster-than-normal heart rate and anxiety.
• Memory loss.
• Hallucinations or seeing or thinking that something’s there when it isn’t.
• Involuntary muscle twitching or jerking (myoclonus).

Stages

• Stage 1 (3–6 months): Progressive, treatment-resistant insomnia begins. It is frequently accompanied by bizarre dreams, panic attacks, paranoia, and phobias.
• Stage 2 (5–9 months): Hallucinations begin as sleep deprivation worsens. The autonomic nervous system malfunctions, causing rapid heart rates, high blood pressure, excessive sweating, and fever.
• Stage 3 (3 months): Complete inability to sleep. Severe physical coordination loss (ataxia) and tremors make movement difficult.
• Stage 4 (up to 6 months): Severe dementia and loss of voluntary motor function (speech, swallowing). Patients fall into a non-interactive stupor or coma before death.

 

Diagnosis and Tests