Beyond Nightmares: The True Horror of Fatal Familial Insomnia

Oct 27, 2023 | Blog, Health, Insomnia, Sleep Disorders

As Halloween approaches, we often revel in tales of the supernatural, the mysterious, and the downright spooky. But what if I told you that there exists a condition, rooted in the real world, that is as eerie as any ghost story? Enter the world of Fatal Familial Insomnia (FFI), a rare and haunting sleep disorder that challenges our understanding of the brain and sleep.

What is Fatal Familial Insomnia?

FFI is an extremely rare autosomal dominant prion disease. In simpler terms, it’s a genetic condition caused by misfolded proteins called prions.1 Instead of folding into their usual shapes, these proteins misfold and accumulate in the brain, particularly in the thalamus, a region responsible for regulating sleep.2

This condition is inherited, passed down through generations. If one parent possesses this genetic anomaly, their child has a 50% likelihood of acquiring the same mutation.3 Only a handful of families worldwide, approximately 70, are known to carry this specific genetic mutation for FFI.4

The chief clinical features of FFI include:5

  • Increasing challenges with sleep over time (escalating insomnia)
  • Elevated blood pressure
  • Accelerated heart rate
  • Anxiety
  • Cognitive decline
  • Perceiving things that aren’t present (hallucinations)
  • Unintentional muscle spasms or movements (myoclonus)

The onset of FFI can vary, with cases reported from ages as young as 19 to as old as 55.6 Regardless of when it begins, the progression is rapid and relentless. Tragically, death is inevitable, with a mean survival duration of just 18 months from the time symptoms first appear.7

Real-Life Horror

Silvano, an elegant 53-year-old with striking red hair, was on a cruise ship when he first noticed the symptoms of a family curse that had haunted his lineage for generations. While dancing, he found his shirt drenched in sweat and his pupils had shrunk to tiny pinpricks. This was the same glassy-eyed stare that had afflicted his father and two sisters. As the disease progressed, he would experience tremors, impotence, constipation, and most terrifyingly, almost total insomnia for months, leading to a state resembling a waking coma.8

Aware of his fate, Silvano approached the University of Bologna’s sleep unit. He told his doctor, Pietro Cortelli, “I’ll stop sleeping, and within eight or nine months, I’ll be dead.” He even drew his genealogical tree from the 18th Century, pointing out family members who had succumbed to the same fate. As predicted, Silvano passed away in less than two years but left his brain to science, hoping it might provide answers.8

Currently, there is no cure for FFI. Treatment strategies focus on managing symptoms and providing palliative care. However, the scientific community is hard at work, researching the intricacies of prion diseases and seeking potential treatments.

While FFI is a chilling reminder of the mysteries that still exist within the realm of medicine, it also underscores the importance of sleep and the intricate balance within our brains.

Sweet dreams and sleep tight.

Learn More

If restful nights elude you, it might be time to seek expert guidance. Somnology’s comprehensive sleep services and data monitoring platform are engineered to provide everyone involved in the sleep care journey – from patients and care providers to healthcare payors and employers – with the information they need to improve health outcomes. With our innovative offerings like the SLaaS® (Sleep Lab as a Service) platform, we are revolutionizing the sleep care experience. We bring the sophistication of a sleep lab right to your fingertips, placing you, the patient, at the heart of everything we do. We are here to guide you every step of the way on your journey to better sleep. To discover more about how we can help you, visit our website.

References:

  1. Geschwind M. D. (2015). Prion Diseases. Continuum (Minneapolis, Minn.), 21(6 Neuroinfectious Disease), 1612–1638. https://doi.org/10.1212/CON.0000000000000251
  2. Lindsley, C. W. (2017). Genetic and rare disease of the CNS. Part 1: Fatal familial insomnia (FFI). ACS Chemical Neuroscience, 8(12), 2570–2572., Retrieved August 30, 2021, from https://pubmed.ncbi.nlm.nih.gov/29258312/
  3. Zerr, I., Schmitz, M., Adam, M. P., Ardinger, H. H., Pagon, R. A., Wallace, S. E., Bean, L. J., Mirzaa, G., Amemiya, A., editors. (2021, January 7). Genetic prion disease. GeneReviews [Internet]., Retrieved August 30, 2021, from https://pubmed.ncbi.nlm.nih.gov/20301407/
  4. Cracco, L., Appleby, B. S., & Gambetti, P. (2018). Fatal familial insomnia and sporadic fatal insomnia. Handbook of Clinical Neurology, 153, 271–299. https://pubmed.ncbi.nlm.nih.gov/29887141/
  5. “Fatal Familial Insomnia Symptoms, Causes, Treatment: Nord.” National Organization for Rare Disorders, 17 July 2023, rarediseases.org/rare-diseases/fatal-familial-insomnia/.
  6. Cleveland Clinic medical. “Fatal Familial Insomnia: Symptoms, Causes & Outlook.” Cleveland Clinic, my.clevelandclinic.org/health/diseases/25001-fatal-familial-insomnia. Accessed 11 Oct. 2023.
  7. Khan Z, Bollu PC. Fatal Familial Insomnia. [Updated 2023 Feb 13]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK482208/
  8. Robson, David. “The Tragic Fate of the People Who Stop Sleeping.” BBC Future, BBC, 24 Feb. 2022, www.bbc.com/future/article/20160118-the-tragic-fate-of-the-people-who-stop-sleeping