5 ms·
Self-Management of Fatal Familial Insomnia: Case Report (2006)
- anyfoo 6y agoWhat a terrible condition. To me, a chronic insomniac (with fortunately absolutely no indication or family history that what I have is anything more than chronic, but intermittent insomnia), FFI always seemed like the grotesque conclusion of insomnia, actually driving people insane and literally killing them for lack of sleep. Which this article seems to confirm.
- Konohamaru 6y agoAll prion diseases are kind of similar, but no, I don't think FFI is the worst of them. The defining feature of FFI is rapid dementia and then death, not necessarily insomnia. I think Mad Cow Disease (new variant Creutzfeldt-Jakob Disease) is the worst of them. * Protracted course 1+ year from onset to death. Maybe 1.5 years is not unheard of. * Almost purely psychiatric issues at the start, not even cognitive. * But it ends in akinetic mutism, which is when you want to move, but a counterwill energes preventing you from moving, and you want to speak, but a counterwill prevents you from speaking. Locked-in syndrome.
- alpineidyll3 6y agoI hesitate to call this nightmare fuel...
- bobowzki 6y agoThis is a story of incredible determination.
- speculator 6y agoThe fact that GHB failed to induce deep restorative sleep shows just how broken sleep mechanics get in FFI. And despite that he tried to pursue his life to the fullest. A truly remarkable story.
- kingkawn 6y agoHe is a hero
- exhilaration 6y agoCan anyone explain what a "genetically transmitted neurodegenerative prion disease" is? I thought prions were misfolded proteins found in the wild that had to be ingested in order to cause disease. How can they be genetically transmitted?
- bookofjoe 6y agoI'm a physician, and I have exactly the same thought.
- milesdyson_phd 6y agoIt's not a prion per se, but it's a genetic mutation affecting PRNP (prion protein).
- bookofjoe 6y agoExcellent. Thank you.
- hacoo 6y agoDefinitely not an expert, but I think it means you have a gene which causes eventual production of a prion. I.e., you produce proteins which have the potential to misfold; eventually this happens and prion disease begins.
- deleted 6y ago[deleted]
- brandonscott 6y agoIt's truly wild that he was taking cross-country road trips