WEBVTT - Is there a disease that kills by preventing sleep? 0:00:01.120 --> 0:00:04.320 Welcome to you stuff you should know from How Stuff 0:00:04.320 --> 0:00:12.680 Works dot com. Hey, and welcome to the podcast. I'm 0:00:12.760 --> 0:00:17.520 Josh Clark with Charleston, Chuck, Bryan and Jerry and this 0:00:17.600 --> 0:00:21.040 is not a day for podcast. I feel like I 0:00:21.120 --> 0:00:27.360 sound like um one of the the public radio gals 0:00:27.800 --> 0:00:32.440 from the early two thousands. Saturday. Oh yeah, yeah, yeah, 0:00:32.440 --> 0:00:37.120 I remember the uh shwetty balls. It's a classic bed 0:00:37.680 --> 0:00:40.720 good times right the Yeah, I was feigning like I 0:00:40.760 --> 0:00:42.559 was yawning, as if I had been up all night 0:00:42.560 --> 0:00:45.640 with insomnia. That's oh, I thought it was because of 0:00:45.680 --> 0:00:48.040 the weather outside. Just a little play acting I got 0:00:48.040 --> 0:00:49.720 you to get us going. You know, it's weird. I 0:00:49.760 --> 0:00:53.920 got a little tired just studying this. Yeah, it's crazy. 0:00:53.960 --> 0:00:57.200 How suggestive How Stuff Works articles are. Well, yeah, not 0:00:57.320 --> 0:01:01.280 in that way, No, no, on that way. I mean, like, 0:01:01.960 --> 0:01:06.320 you know, suggestive in that way. Jerry did not get 0:01:06.319 --> 0:01:08.080 any sleep last night. We were talking about it before 0:01:08.080 --> 0:01:11.000 we recorded. She got like a couple of hours, like 0:01:11.040 --> 0:01:13.720 one of those deals where you wake up and then 0:01:14.360 --> 0:01:16.640 you just stay awake for hours and hours. And I 0:01:16.680 --> 0:01:18.320 told her, I said, you may have been sleeping during 0:01:18.319 --> 0:01:21.080 some of that time, because you know, sometimes you'll be 0:01:21.200 --> 0:01:23.800 distressed about not sleeping, and you'd be like, man, I'm 0:01:23.800 --> 0:01:25.480 just awake, and then you wake up and you're like, 0:01:25.880 --> 0:01:28.839 was I just dreaming about being stressed about being awake? Yeah? Well, 0:01:28.840 --> 0:01:32.759 what's the answer, Jerry, she's tired. I'm going to answer 0:01:32.760 --> 0:01:36.000 for I think you should. But um, yeah, I don't 0:01:36.040 --> 0:01:38.760 typically get insomnia, but sometimes I can psych myself out 0:01:38.800 --> 0:01:42.840 a little bit mentally with about of it. And that's 0:01:42.840 --> 0:01:44.880 when I'm laying there going like, oh man, not this. 0:01:45.480 --> 0:01:48.880 Oh yeah, once you start thinking about it, it is over. 0:01:49.000 --> 0:01:54.400 So that's that is what one might call typical standard insomnia. Yeah, 0:01:54.400 --> 0:01:56.520 that's not what this is about. No, no, Well we're 0:01:56.560 --> 0:02:02.200 talking about is a very very rare genetic disorder. Well 0:02:02.240 --> 0:02:05.480 it's not even genetic disorder. It's a neurodegenerative disorder, I 0:02:05.480 --> 0:02:10.560 guess is what you call it. It's called fatal familial insomnia. Fatal. 0:02:10.960 --> 0:02:12.520 That should tell you all you need to know. This 0:02:12.600 --> 0:02:16.280 is insomnia that will kill you exactly like without know 0:02:16.360 --> 0:02:18.560 if sands are but you will die. And like I said, 0:02:18.560 --> 0:02:22.840 it's very very rare, Chuck. They think that possibly a 0:02:22.919 --> 0:02:28.520 hundred people since they started analyzing this or you noticed it. 0:02:28.840 --> 0:02:32.120 I think in the eighteenth century probably have died from 0:02:32.200 --> 0:02:35.799 fatil familial insomnia. So it's a very rare disease. And 0:02:35.880 --> 0:02:40.240 but it's also you'll notice, familial. It's very frequently passed 0:02:40.240 --> 0:02:45.519 down along family lines, almost always, so they think tops 0:02:45.919 --> 0:02:50.440 forty families are touched by it. Yeah, and I already misspoke, 0:02:50.560 --> 0:02:54.440 which will correct later. But I said it's insomnia that 0:02:54.480 --> 0:02:56.280 will kill you, and that's not really a case. The 0:02:56.320 --> 0:02:59.680 insomnia is just a symptom of a larger problem in 0:02:59.720 --> 0:03:03.160 your that will kill you. Yes, but the insomnia does 0:03:03.240 --> 0:03:07.880 not help. Sure, it makes everything worse. So Um, the 0:03:08.040 --> 0:03:10.680 history of this is a little murky, but they have 0:03:10.800 --> 0:03:14.360 traced it back to one of two people. One is 0:03:14.360 --> 0:03:17.079 a guy who they just referred to as patient zero, 0:03:17.720 --> 0:03:22.239 who possibly died in seventeen sixty five in Venice, Venice, Italy, 0:03:22.280 --> 0:03:25.520 that is uh. And the other one is a guy 0:03:25.680 --> 0:03:32.560 who died in eighteen thirty six, probably of fatal familial insomnia. Um, 0:03:32.600 --> 0:03:35.800 also in Venice, Italy. What's going on over there, Well, 0:03:35.840 --> 0:03:42.880 there's probably maybe so tainted pasta sauce, who knows what 0:03:43.040 --> 0:03:46.280 what happened, But the whole thing, there are different ways 0:03:46.280 --> 0:03:51.520 that it could get started Um, but the these whoever 0:03:52.040 --> 0:03:55.240 the patient zero was, it's been passed down along their family. 0:03:56.080 --> 0:04:00.200 Those two families especially have did not farewell over the RS. 0:04:01.040 --> 0:04:05.480 It's very sad. It well, the diseases extremely sad. Yeah, 0:04:05.520 --> 0:04:07.680 And like I said, it's not you're not dying just 0:04:07.720 --> 0:04:10.520 because you can't sleep night after night. Um, that is 0:04:10.560 --> 0:04:13.760 just a symptom. But what we're talking about in a 0:04:13.840 --> 0:04:17.440 larger sense is something called a preon disease. These are 0:04:17.480 --> 0:04:22.240 super rare and uh characteristic of a few things that 0:04:22.279 --> 0:04:26.040 they call it a sponge AFM disease, which means you're 0:04:26.040 --> 0:04:28.960 gonna get tiny little holes in your brain. You get 0:04:28.960 --> 0:04:34.600 a sponge sponge brain and uh there is uh neural loss. 0:04:34.760 --> 0:04:37.599 And one of the weird things is a failure to 0:04:37.680 --> 0:04:41.719 induce inflammatory response, Yeah, which I guess is that's the 0:04:41.800 --> 0:04:45.720 body first saying, hey, something's wrong here. I'm gonna puff up. 0:04:46.760 --> 0:04:49.680 Whether it's an ankle sprain or you know, like a 0:04:49.720 --> 0:04:52.000 disease that will that will make something in flame. That's 0:04:52.000 --> 0:04:54.919 a sign of your body trying to fight something else. 0:04:55.240 --> 0:04:58.880 There's actually a lot of controversy about prion diseases because 0:04:58.920 --> 0:05:03.880 it doesn't make an any sense. It's an infectious agent, right, 0:05:04.320 --> 0:05:08.719 But it's really just a misfolded protein. And it's really 0:05:08.800 --> 0:05:12.400 bizarre because with any other kind of infection, you have 0:05:12.960 --> 0:05:17.080 a viral infection, a bacterial infection, and a preon infection. 0:05:17.800 --> 0:05:22.880 Viral infections and bacterial infections have DNA or RNA. A 0:05:22.880 --> 0:05:26.600 protein again, is just a preon. It's just a misfolded protein, 0:05:26.680 --> 0:05:29.440 so it shouldn't be able to infect anything, but it does. 0:05:30.480 --> 0:05:34.040 So it's this crazy medical mystery that they're still trying 0:05:34.080 --> 0:05:36.239 to get to the bottom of. But as they do, 0:05:36.720 --> 0:05:42.720 diseases like fatal familial insomnia or um uh crips Field 0:05:42.960 --> 0:05:46.920 Jacob's disease, which is like human mag cow disease. It's 0:05:46.960 --> 0:05:51.360 a spongefformed disease, spongebrain. It happens with animals and humans. 0:05:51.360 --> 0:05:55.240 I don't I think that's pretty important. So in in 0:05:55.240 --> 0:05:57.360 in many ways, it makes a lot of sense that 0:05:57.839 --> 0:06:02.840 you would be able to pass down this problematic um 0:06:02.839 --> 0:06:09.120 it's an autosomal dominant neurodegenerative disease, fatal familial insomnia. It 0:06:09.160 --> 0:06:11.400 makes sense that it would pass down along family lines 0:06:11.440 --> 0:06:17.320 because there's a gene that UM in under normal circumstances, 0:06:17.320 --> 0:06:20.680 expresses a protein the pr PC protein, which is a 0:06:20.680 --> 0:06:23.800 normal protein. We don't know what it does, but we 0:06:23.880 --> 0:06:26.599 do know that it probably ei there has to do 0:06:26.640 --> 0:06:31.680 with copper ion transport into the cell. It prevents cellular 0:06:31.760 --> 0:06:36.200 death until the time is right, or it helps create 0:06:36.440 --> 0:06:39.479 the sheets around your nerve endings so you're not in 0:06:39.560 --> 0:06:43.560 constant pain. They think it's one of those, right, But 0:06:43.640 --> 0:06:45.880 because it's the brain, there's still some mystery. And I 0:06:45.880 --> 0:06:48.120 don't even think it was like the midneties when they 0:06:48.120 --> 0:06:51.039 finally name this, right, Yeah, so it's pretty new on 0:06:51.080 --> 0:06:53.360 the scene as far as because it's so rare, right, 0:06:53.760 --> 0:06:56.760 but not even just fatal familial insomnia. It wasn't until 0:06:56.800 --> 0:07:00.480 two thousand five that they the these res riachers at 0:07:00.520 --> 0:07:05.240 the University of Texas in Austin. Basically, ir irrefutally proved 0:07:05.560 --> 0:07:10.040 that preons misfolded proteins are an infectious agent. Even though 0:07:10.040 --> 0:07:14.200 we have no idea how this is happening, It's it's true. 0:07:14.320 --> 0:07:17.080 There's three ways of getting an infection in A misfolded 0:07:17.080 --> 0:07:20.680 protein is one of them. Yeah, like you said, they 0:07:20.680 --> 0:07:24.400 can occur in three ways. One is um acquired and 0:07:24.440 --> 0:07:28.040 that means you have an infection. Well, in the case 0:07:28.080 --> 0:07:30.200 of kuru, which I guess we should talk about k 0:07:30.360 --> 0:07:33.160 you are you? That is when you get an infection 0:07:33.480 --> 0:07:36.560 because you ate someone's brain. Yeah, I think we talked 0:07:36.600 --> 0:07:39.280 about that in the cannibalism episode, doesn't you. It seemed 0:07:39.320 --> 0:07:42.680 familiar in Papua New Guinea in the fifties, Like I 0:07:42.720 --> 0:07:47.280 guess a local I think British governor or agent started 0:07:47.320 --> 0:07:49.360 noting that there is this thing that the four A 0:07:49.600 --> 0:07:54.120 people who practiced funereal cannibalism that included the eatings of 0:07:54.160 --> 0:07:58.120 the deceased brain, um, would come down with the disease 0:07:58.120 --> 0:08:02.000 that they called kuru, which meant like trembling in fear right, 0:08:02.800 --> 0:08:05.600 And they started investigating it a little more. And that's 0:08:05.600 --> 0:08:07.480 when we started to get the idea that there was 0:08:07.520 --> 0:08:10.240 such a thing as prion disease, that you could catch 0:08:10.720 --> 0:08:16.280 a preon uh well disease from eating brain. Yeah, and 0:08:16.320 --> 0:08:18.760 it would render them you know, they couldn't eventually walk 0:08:18.920 --> 0:08:21.440 or talk or eat. They would just lose all their 0:08:21.480 --> 0:08:25.840 motor function basically and waste away and die because they 0:08:25.840 --> 0:08:30.080 can't swallow or chew or anything exactly. So um, that's 0:08:30.120 --> 0:08:33.640 when we first started really noticing in humans this whole 0:08:33.640 --> 0:08:38.600 idea of uh, spongebrain problems, and that's the acquired version. 0:08:39.400 --> 0:08:44.520 There's also one called sporadic which basically you just all 0:08:44.559 --> 0:08:48.800 of a sudden develop it was fatal familial insomnia, and 0:08:48.840 --> 0:08:50.920 they don't know where it comes from or how it's caused. 0:08:51.640 --> 0:08:53.719 But doesn't it doesn't the fact that like one of 0:08:53.760 --> 0:08:57.760 those two, that there are those two different ways, and 0:08:57.800 --> 0:09:00.199 I know there's a third one, but don't they make 0:09:00.200 --> 0:09:02.240 you very suspicious of what the heck was going on 0:09:02.320 --> 0:09:05.840 in Venice in the late eighteenth century? Totally because they 0:09:06.280 --> 0:09:10.760 were both of those original patient zeros were unrelated, right yeah, 0:09:10.760 --> 0:09:13.800 because one was seventeen sixty five was six. But even 0:09:13.840 --> 0:09:15.920 still they if they were in the same family, they'd 0:09:15.960 --> 0:09:17.600 be like, well, these guys are in the same family, 0:09:17.640 --> 0:09:20.240 so probably the one from earlier. From what I've read, 0:09:20.280 --> 0:09:21.960 they're not in the same family. They just happened to 0:09:21.960 --> 0:09:23.640 live in the same town. I think that is correct. 0:09:23.679 --> 0:09:25.960 So I wonder if people were eating some weird stuff 0:09:26.000 --> 0:09:31.800 there and one of them sporadically developed fatal familial insomnia. 0:09:32.040 --> 0:09:35.680 That's nutty. So there's a third way to right, yeah, inherited, 0:09:36.280 --> 0:09:40.200 which is for as far as fatal familial insnia it's 0:09:40.240 --> 0:09:47.120 almost always inherited UH from from your family's genetics. Almost always, 0:09:47.640 --> 0:09:50.319 but not all prion diseases are, which is by the way, 0:09:50.360 --> 0:09:54.880 it's derived from the words protein and infection. Yeah, there's 0:09:54.880 --> 0:10:01.439 a guy in two who um coined the term UH 0:10:01.559 --> 0:10:04.080 and I ended up winning the Nobel Prize, and I 0:10:04.120 --> 0:10:10.559 think because of his early studies. Name was Stanley Pruss Prisoner. 0:10:11.080 --> 0:10:15.240 He won the Nobel in nine um And even after 0:10:15.320 --> 0:10:17.680 he won the Nobel, people are like, this is what 0:10:17.760 --> 0:10:20.480 you're talking about is impossible. There's no way a protein 0:10:20.520 --> 0:10:24.360 can infect other proteins. But that's exactly what happens. So, 0:10:24.840 --> 0:10:27.720 like I said, there's a there's a normal protein, the 0:10:27.800 --> 0:10:31.720 pr PC protein, right, and then there's the sponge aformed 0:10:31.840 --> 0:10:35.560 version of it, the prp sc and that's after it's 0:10:35.559 --> 0:10:40.800 been folded. Yes, that's the folded basically mutated version. So 0:10:41.440 --> 0:10:45.160 the whole thing comes down to what's called a polymorphism 0:10:45.200 --> 0:10:49.880 on a code on which is a sequence of nucleotides 0:10:50.240 --> 0:10:55.120 amino acids on your DNA right on a gene, and 0:10:55.400 --> 0:10:59.680 the specific code on these say three nucleotides say you 0:10:59.800 --> 0:11:02.920 got eyes, mean that we're going to code this protein 0:11:03.240 --> 0:11:07.480 and under normal circumstances. On this gene, the pr PC 0:11:07.679 --> 0:11:14.960 protein is coded, but if you have a different nucleotide combination, 0:11:15.600 --> 0:11:21.040 you start coding the pr p SC protein and that's 0:11:21.040 --> 0:11:25.559 the misfolded one. Normal enough, right, Okay, Yes, we can 0:11:25.559 --> 0:11:29.280 code abnormally folding proteins. It's what cancers and all that stuff. 0:11:29.720 --> 0:11:36.400 The thing is, once the patient starts folding these proteins abnormally, 0:11:36.880 --> 0:11:42.360 those proteins go in and somehow infect the already properly 0:11:42.400 --> 0:11:46.400 folded proteins that were expressed in the brain elsewhere before. Yeah, 0:11:46.400 --> 0:11:49.360 they bind to them, and they don't know how or why. 0:11:49.559 --> 0:11:53.040 Isn't that bizarre? Yeah, it's totally bizarre. And once that happens, 0:11:53.160 --> 0:11:56.720 you're in big trouble. You are in big trouble. And uh, 0:11:56.880 --> 0:11:59.200 we'll get into some of the symptoms and stages right 0:11:59.240 --> 0:12:05.240 after this message break. All right, So we are back 0:12:05.280 --> 0:12:09.840 with some symptoms and stages. And this is in general 0:12:09.880 --> 0:12:13.560 for all prion diseases. They're gonna share some symptoms, like 0:12:13.600 --> 0:12:18.240 a handful of them. Um fatigue, it is one cognitive decline, 0:12:18.360 --> 0:12:22.480 like you're gonna lose some memory. You might develop dementia. Uh, 0:12:22.720 --> 0:12:27.839 rigidity with like movement and walking hallucinations. Um, but they 0:12:27.880 --> 0:12:30.320 don't all have the same symptoms. You might get some 0:12:30.360 --> 0:12:32.600 of these and not get others. Right. The hallmark of 0:12:32.600 --> 0:12:37.920 fatal familial insomnia is appropriately enough insomnia. Yeah, and that's 0:12:38.000 --> 0:12:40.560 like when you start. One of the really sad things 0:12:40.600 --> 0:12:43.680 is once you start to notice that you're already although 0:12:43.679 --> 0:12:47.280 they can't cure it anyway, but um, sometimes it's nice 0:12:47.280 --> 0:12:48.880 to know these things early on, but once you start 0:12:48.920 --> 0:12:52.360 noticing insomnia, it's pretty far along. Yeah. And most people 0:12:52.440 --> 0:12:55.200 don't know that they have it early on because the 0:12:55.320 --> 0:12:59.200 mean age of onset is fifty years old, and it's 0:12:59.240 --> 0:13:01.600 kind of all over place, Like they have seen cases 0:13:01.640 --> 0:13:04.320 as early as nineteen. They've seen him come on as 0:13:04.400 --> 0:13:07.400 late as seventy two. You're doing pretty good. But for 0:13:07.440 --> 0:13:11.160 the most part, it strikes you around late late forties, 0:13:11.240 --> 0:13:15.280 early fifties, and once it happens, you've got between one 0:13:15.360 --> 0:13:19.760 to maybe three years of basically a living hell before 0:13:19.800 --> 0:13:23.000 you die of this. Yeah it Um. There's generally four 0:13:23.080 --> 0:13:26.400 stages of f f i U, the first of which 0:13:26.480 --> 0:13:29.360 is gonna start with the insomnia, and over about four 0:13:29.360 --> 0:13:32.240 months is gonna get worse and worse. But like I said, 0:13:32.280 --> 0:13:35.480 some people only notice it later on, UM, after other 0:13:35.920 --> 0:13:40.240 UH symptoms become known, you might start to have like 0:13:40.320 --> 0:13:45.000 panic attacks, phobia's paranoia. When you do manage to sleep, 0:13:45.120 --> 0:13:48.120 you supposedly have like super vivid dreams, which is interesting, 0:13:48.280 --> 0:13:51.240 but for the most part, you're having bouts of insomnia 0:13:51.360 --> 0:13:55.720 big time. Stage two it gets even worse. This stage 0:13:55.800 --> 0:13:59.560 lasts about five months on average or typically, which is 0:13:59.600 --> 0:14:02.199 to say it has in less than a hundred people 0:14:02.240 --> 0:14:06.440 in the history of Earth. UM. But the the you 0:14:06.600 --> 0:14:10.880 enter this stage called sympathetic hyperactivity, which is where you're 0:14:10.920 --> 0:14:14.199 just keyed up all the time. UM. Do you remember 0:14:14.280 --> 0:14:17.960 we've talked about insomnia and sleep deprivation and a couple 0:14:18.000 --> 0:14:21.840 of podcasts before and how just totally unhealthy it is. 0:14:22.280 --> 0:14:24.440 One of the reasons it is so unhealthy is because 0:14:24.480 --> 0:14:29.520 your body enters a state of constant stress reaction. And 0:14:29.560 --> 0:14:33.840 that's what UM sympathetic hyperactivity is. It's like, UM, your 0:14:33.880 --> 0:14:37.000 breathing is elevated, your heartbeat is elevated, your core body 0:14:37.040 --> 0:14:41.320 temperature is elevated. UM, you're just tuned up all the 0:14:41.400 --> 0:14:44.800 time and you're not getting the sleep to knock yourself 0:14:44.800 --> 0:14:48.520 out of that state and to regroup and regenerate and rest. Yeah, 0:14:48.560 --> 0:14:50.960 and you're gonna at this stage you're gonna have um 0:14:51.080 --> 0:14:55.400 some memory loss, short term memory loss, mood changes, a 0:14:55.400 --> 0:14:59.040 lot of anxiety and depression, and you're gonna start to 0:14:59.080 --> 0:15:02.080 have some motor issues as well, like the way you 0:15:02.080 --> 0:15:04.560 move and the way you walk. So things are starting 0:15:04.560 --> 0:15:06.440 to get pretty bad at this point, and you're probably 0:15:06.520 --> 0:15:09.280 pretty freaked out, especially if this doesn't run in your 0:15:09.280 --> 0:15:12.880 family and you either acquired it or it's a sporadic case. 0:15:13.040 --> 0:15:15.280 Well yeah, and you're not going to a doctor and 0:15:15.280 --> 0:15:17.400 they're going, hey, this sounds like ff I to me 0:15:18.080 --> 0:15:21.280 because I've never heard of it in my life exactly. Um, 0:15:21.360 --> 0:15:22.880 well that's not true. Doctors have heard of this, but 0:15:22.960 --> 0:15:25.000 you know what I mean, like two of them. Half. Yeah, 0:15:25.040 --> 0:15:27.240 it's not the first go to I think when you 0:15:27.280 --> 0:15:30.240 say I've been having trouble sleeping and I'm agitated, they're 0:15:30.280 --> 0:15:33.920 probably gonna ask, like, what kind of drugs you've been doing? Yeah, 0:15:34.000 --> 0:15:37.120 you know, like just lay off the pot. Well that 0:15:37.120 --> 0:15:40.320 should make you sleep, though, right, I don't know. I 0:15:40.360 --> 0:15:42.960 guess it probably depends on what type of pot. I 0:15:43.000 --> 0:15:45.240 would think it's more I like lay off the speed. 0:15:46.000 --> 0:15:48.720 Oh yeah, you know, I probably should be gone there 0:15:49.720 --> 0:15:53.320 all right. Uh so the third stage is pretty short, 0:15:53.360 --> 0:15:57.280 it's about three months long, and that's when you're uh 0:15:57.640 --> 0:16:01.400 really delving into the hardcore. And so what's what's that 0:16:01.560 --> 0:16:05.840 in stage one? In stage two, appropriately enough, you're sleeping, 0:16:06.360 --> 0:16:09.960 but you're only entering stage one. In stage two of sleep, 0:16:10.760 --> 0:16:14.960 which is stage one is considered um where you're just 0:16:15.480 --> 0:16:20.240 very relaxed. Stage two is where you're starting to sleep, 0:16:20.240 --> 0:16:23.280 but you can be woken up very easily, and you're 0:16:23.280 --> 0:16:26.120 not Yeah, and you're not going beyond that. You're not 0:16:26.160 --> 0:16:29.440 going into stage three or stage five, which is R 0:16:29.480 --> 0:16:32.840 A M. Sleep. They combine stage three and stage four apparently. 0:16:33.360 --> 0:16:36.760 But you're not getting to sleep. So by the third 0:16:36.880 --> 0:16:39.680 stage of fatal familiar insomnia, you're not even going to 0:16:39.720 --> 0:16:43.080 one or two. You're just not sleeping at all. And 0:16:43.160 --> 0:16:47.760 it's been like this for um nine ten months already, 0:16:47.800 --> 0:16:50.960 so you're just basically losing it at this point. Yeah, 0:16:51.000 --> 0:16:53.800 and that will deliver you to the end stage stage four, 0:16:54.440 --> 0:16:57.200 and it's called end stage. You know where you're headed there, 0:16:57.520 --> 0:17:03.440 um serious decline in dementia, UM in brain activity. Maybe 0:17:03.480 --> 0:17:06.040 you've got about six months at that point, but you're 0:17:06.040 --> 0:17:09.240 going to lose the ability to speak and move. It's 0:17:09.280 --> 0:17:12.879 called a kinetic mutism and basically fall into a comma 0:17:12.920 --> 0:17:16.720 and death. So with with a kinetic mutism, you actually 0:17:16.720 --> 0:17:20.160 have the ability to move and speak, but you lack 0:17:20.560 --> 0:17:25.600 the basic will to do so. Apparently, like patients who 0:17:25.600 --> 0:17:28.560 have come out of this have reported that will not 0:17:28.600 --> 0:17:31.120 necessarily f FI because it's always fatal in a hundred 0:17:31.160 --> 0:17:34.000 percent of cases. Um, But people who have had a 0:17:34.080 --> 0:17:37.720 kinetic mutism for other reasons have said, like, like I 0:17:37.840 --> 0:17:40.560 knew I could, but in any time I got the 0:17:40.600 --> 0:17:44.800 will up to move, right, there was something else just 0:17:44.920 --> 0:17:47.840 counteracting that that was stronger, and I just couldn't move 0:17:47.880 --> 0:17:51.679 and couldn't talk. Yeah, and then like you said, you 0:17:51.760 --> 0:17:55.480 go from that into a coma right, and then death. Yes, 0:17:55.600 --> 0:17:59.600 and all prion diseases are fatal at this point and uncurable, 0:17:59.600 --> 0:18:03.040 correct I guess? So yeah, yeah, as far as they know. So, Chuck, 0:18:03.160 --> 0:18:06.520 what's what's going on in the brain here? Uh? Well, 0:18:06.560 --> 0:18:11.400 basically your central nervous system is starting to break down. Um. 0:18:11.560 --> 0:18:16.960 The anterior ventral and medio dorsal thalamic neurons. So those 0:18:16.960 --> 0:18:20.400 are neurons in your thalamus that basically manage your motor functions, 0:18:20.960 --> 0:18:24.720 they start to die out, and instead of being replaced 0:18:24.760 --> 0:18:26.720 like your body likes to do when cells die out 0:18:26.760 --> 0:18:30.120 with healthy ones, they don't your glial cells, which when 0:18:30.119 --> 0:18:32.119 don't we talk about glial cells. We've talked about them 0:18:32.119 --> 0:18:35.080 a few times. Yeah, we've in some brain wine before. 0:18:34.920 --> 0:18:39.800 They're basically the cleaning service for your central nervous system. Uh, 0:18:39.840 --> 0:18:42.399 and they help out with communication there they start to 0:18:42.440 --> 0:18:45.920 die and form scar tissue and the thalamus and once 0:18:45.960 --> 0:18:49.480 that happens, it's called gliosis. You've just got scar tissue 0:18:49.520 --> 0:18:52.400 instead of healthy cells exactly, pretty rapid decline from there. 0:18:52.520 --> 0:18:57.240 It kills the communication between cells. Right. Yeah. So, um, 0:18:57.280 --> 0:19:01.520 with fatal familial insomnia like what just described as the 0:19:01.560 --> 0:19:05.720 result of any spongeform prion disease, right, which again, we're 0:19:05.800 --> 0:19:08.000 just tiny little holes in your brain. Right. So it 0:19:08.080 --> 0:19:13.520 seems like the distinction between the different spongeyform diseases is 0:19:13.760 --> 0:19:17.440 what part of the brain specifically they attack. Fatal familial 0:19:17.480 --> 0:19:22.680 insomnia they attack the thalamus, specifically the hypothalamus and specifically 0:19:23.000 --> 0:19:28.440 the parts of the hypothalamus that help regulate sleep. Um, 0:19:28.480 --> 0:19:32.600 And there's this part of your hypothalamus that is an 0:19:33.280 --> 0:19:35.760 it has it creates what's what you could call an 0:19:35.800 --> 0:19:39.800 anti waking system, to where not only are the neurons 0:19:39.800 --> 0:19:45.639 shut off in one respect, in another, a bunch of 0:19:45.680 --> 0:19:49.280 neurons that are off while you're asleep are on and 0:19:49.320 --> 0:19:53.840 just keeping you asleep. So when you're waking normally, those 0:19:53.880 --> 0:19:57.800 neurons are off, and when you're sleeping they're on. The 0:19:57.880 --> 0:20:01.720 problem is, if you have fatal familiar insomnia, Uh, the 0:20:01.800 --> 0:20:06.160 prions have eaten away at this system, and now all 0:20:06.160 --> 0:20:09.560 of a sudden that that anti waking system that keeps 0:20:09.560 --> 0:20:11.920 you asleep when you're asleep allows you to go to sleep, 0:20:11.960 --> 0:20:15.160 to transition from one stage of sleep to deeper stage 0:20:15.160 --> 0:20:18.560 of sleep is no longer active any longer. And so 0:20:18.640 --> 0:20:21.159 the only thing that is active is your wakefulness and 0:20:21.200 --> 0:20:24.440 it is on all the time. So you know you're 0:20:24.520 --> 0:20:27.840 dying and there's this it's got to be some sort 0:20:27.840 --> 0:20:30.280 of madness from not being able to sleep. It just 0:20:30.320 --> 0:20:34.679 exacerbates everything, like that's just one of the symptoms. It is, 0:20:35.280 --> 0:20:37.880 and it is a symptom, but it's also uh, it's 0:20:38.000 --> 0:20:43.000 it's also directly related to the mechanism of this disease. Yeah, 0:20:43.000 --> 0:20:45.000 and it's got to speed up the process because your 0:20:45.000 --> 0:20:47.280 body is not getting the rest it needs exactly top 0:20:47.320 --> 0:20:50.520 of everything else. And and that's the that's the devious 0:20:50.560 --> 0:20:52.680 part of the whole thing is not only is your 0:20:52.680 --> 0:20:54.960 body not getting the rest it needs, it's on all 0:20:55.000 --> 0:20:59.240 the time. So it's it's kind of like a doubly 0:21:00.080 --> 0:21:04.359 hardcore as far as diseases go. So, like we said, 0:21:04.440 --> 0:21:08.280 diagnosing it is tough a because it's so rare. Uh 0:21:08.880 --> 0:21:13.160 be the symptoms are, you know, they're always patient reported. 0:21:13.200 --> 0:21:16.040 So like I said, a doctor is not gonna like 0:21:16.240 --> 0:21:18.760 look at this first thing. Uh, You're gonna go in 0:21:18.840 --> 0:21:21.040 with your family history and maybe get some blood test 0:21:21.119 --> 0:21:25.280 on UM, an I exam, a spinal tap. You might 0:21:25.320 --> 0:21:27.320 get an m R I or a pet scam or 0:21:27.600 --> 0:21:31.600 pet scam pet scan you've never believed in, or an 0:21:31.600 --> 0:21:36.040 e G which measures measures electrical activity in your brain. 0:21:36.560 --> 0:21:39.439 But um, it's really tough to diagnose. Well, yeah, and 0:21:39.480 --> 0:21:42.000 none of that is gonna work until you've already entered 0:21:42.040 --> 0:21:45.320 that stage. Yeah, like you've already entered the first stage 0:21:45.359 --> 0:21:49.480 at least, because those those tests show, oh, yeah, you 0:21:49.520 --> 0:21:53.359 have insomnia. And then once they established yeah, you have insomnia, 0:21:53.440 --> 0:21:58.440 then they have to further establish that it's fatal familial insomnia. Yeah. 0:21:58.680 --> 0:22:02.960 And by this time, also, Chuck, it's say about fifty 0:22:03.040 --> 0:22:06.359 year about fifty years old, you've probably already had kids. 0:22:06.840 --> 0:22:09.280 And so now once you find out you have fatal 0:22:09.280 --> 0:22:12.119 familiar in samnia, you're also terrified that you've passed it 0:22:12.160 --> 0:22:15.400 onto your children, you get about. Yeah, and since it's 0:22:15.400 --> 0:22:20.359 an autosomal dominant trait or disease condition, um, all you 0:22:20.400 --> 0:22:22.359 need is one parent with it to pass it on 0:22:22.400 --> 0:22:25.719 to you. Yeah. It's so sad. It's like, basically, what 0:22:25.760 --> 0:22:28.800 am I dying of? Because you can't fix me? And 0:22:30.400 --> 0:22:32.439 are my kids going to die this as well? And 0:22:32.480 --> 0:22:36.200 then their kids? Very horrible disease. All Right, we're gonna 0:22:36.240 --> 0:22:39.960 get into I guess, finish up with a few a 0:22:40.000 --> 0:22:42.280 little information on a few more of these pre owned diseases, 0:22:42.600 --> 0:22:53.200 right for this break all right, before we get onto 0:22:53.440 --> 0:22:56.280 the other preonn diseases, we do need to talk about treatment. 0:22:56.800 --> 0:23:00.159 Like we've said over and over, sadly, there is no 0:23:01.720 --> 0:23:05.320 curative treatment, but there is palliative care, which basically means 0:23:05.320 --> 0:23:08.000 we're gonna try and help you out as much as 0:23:08.040 --> 0:23:11.359 we can to be comfortable as you die. Uh. And 0:23:11.960 --> 0:23:14.800 weirdly one of the things that they are looking into 0:23:15.080 --> 0:23:19.680 and trying is giving patients g h by the club 0:23:19.800 --> 0:23:22.720 drug that you hear about to help people sleep, and 0:23:22.720 --> 0:23:25.199 they're actually prescribing that in some certain cases. Yeah, and 0:23:25.240 --> 0:23:31.320 they it apparently gives them quick, small, short bouts of sleep. 0:23:31.960 --> 0:23:37.080 But that's I'm sure incredibly wonderful sleep. Nonetheless, yeah, it 0:23:37.160 --> 0:23:39.480 might decrease your heart rate and body temperature a little 0:23:39.480 --> 0:23:43.000 bit too, but um, at that point, you know, when 0:23:43.040 --> 0:23:45.320 you're taking g HB to get twenty minutes of sleep, 0:23:45.920 --> 0:23:49.800 you've got a pretty sad end coming very soon. It's 0:23:49.920 --> 0:23:53.480 very sad. The other great hope is gene therapy, where 0:23:53.520 --> 0:23:59.639 basically the delete the gene that's responsible for um making 0:23:59.680 --> 0:24:04.040 this protein misfold and insert the correct version of it. 0:24:04.800 --> 0:24:07.000 That's got to be the future of these cures, don't 0:24:07.040 --> 0:24:08.679 you think. Yeah, that's gonna be the future of a 0:24:08.680 --> 0:24:12.200 lot of cures when we can just rewrite the code 0:24:12.200 --> 0:24:16.320 of our genes to you know, make it express properly. Yeah, 0:24:16.920 --> 0:24:19.960 But until then, there's gonna be some problems for people 0:24:20.000 --> 0:24:25.520 with spongeformed diseases because there's nothing you can do, including 0:24:25.520 --> 0:24:28.400 with fatal familial insomni you can give somebody g HP. 0:24:28.640 --> 0:24:30.280 That's about it. Should we go over a few more 0:24:30.280 --> 0:24:34.560 of these? Yeah, they're all equally devastating. Um, I think 0:24:34.600 --> 0:24:37.720 you did mention c J D quitz felt jacob or 0:24:37.920 --> 0:24:44.320 yakup disease yaup. Maybe sure. Anytime I see j A 0:24:44.440 --> 0:24:46.600 k O B, I think of the like you know, 0:24:46.760 --> 0:24:50.800 German pronunciation. Yeah, it's probably right. This one's the most 0:24:50.800 --> 0:24:53.840 prevalent um and it is a spontaneous occurrence, which is 0:24:53.880 --> 0:24:56.600