Imagine facing a condition that feels like a never-ending nightmare.
Insomnia is a common problem, affecting nearly 20% of adults who find themselves restless throughout the night.
However, sleep disturbances might be the least of your concerns if you are afflicted by fatal familial insomnia (FFI), a genetic disorder that is both rare and deadly with no known cure.
While various factors, such as late-night snacks, can lead to sleeplessness, insomnia is merely one symptom associated with FFI.
This uncommon condition impacts the brain and nervous system, potentially resulting in sleep disturbances, involuntary muscle movements, and even severe memory impairment or dementia.
And the symptoms get worse over time.
Other signs can include high blood pressure, anxiety, faster-than-normal heart rate and hallucinations.
While many early symptoms can resemble Alzheimer’s disease or dementia, you should talk to your doctor if you’re experiencing memory loss and loss of motor skills combined with difficulty sleeping.
These symptoms can begin between the ages of 20 and 70, with an average onset age of 40.
The condition is inherited from a mutated PRNP gene passed down by biological parents, and while extremely rare, it can occur in people without a family history.
The PRNP gene that exists in the brain is responsible for making the prion protein PrPC, which regulates several bodily functions, including sleep.
When the PRNP gene is changed, the PrPC proteins can’t be built correctly, accumulating in the brain and becoming toxic to nervous system cells.
The disruption to sleep caused by FFI can lead to a vicious cycle of deteriorating health, as sleep is crucial to physical and mental health.
As the condition worsens over time, life expectancy is poor after symptoms start, ranging from a few months to a couple of years.
While there’s no cure for FFI, symptoms can be managed or medications may provide temporary relief.
Treatments include medications like gamma-hydroxybutyrate or phenothiazines to induce deep sleep, clonazepam for muscle spasms, vitamins like B12 or iron, psychosocial therapy and potentially hospice care.
However, other medications and supplements that are used for sleep — such as melatonin or sedatives like barbiturates or benzodiazepines — are ineffective for managing FFI symptoms.
New treatment options are currently being researched, including the use of the antibiotic doxycycline to prolong lifespan in those with fatal familial insomnia.