Self-Management of Fatal Familial Insomnia: Case Report (2006)

Self-Management of Fatal Familial Insomnia: Case Report (2006)(ncbi.nlm.nih.gov)

74 points by rarefied_tomato 6 years ago | 12 comments

anyfoo 6 years ago |

What 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 6 years ago | |

All 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.

exhilaration 6 years ago |

Can 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?

hacoo 6 years ago | |

Definitely 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.

bookofjoe 6 years ago | |

I'm a physician, and I have exactly the same thought.

milesdyson_phd 6 years ago | | |

It's not a prion per se, but it's a genetic mutation affecting PRNP (prion protein).

bobowzki 6 years ago |

This is a story of incredible determination.

speculator 6 years ago | |

The 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.

alpineidyll3 6 years ago |

I hesitate to call this nightmare fuel...

brandonscott 6 years ago |

It's truly wild that he was taking cross-country road trips

kingkawn 6 years ago |

He is a hero