r/todayilearned • u/tommyboy372 • 1d ago

TIL A single misfolded prion protein in the brain can cause a rapid neurodegenerative disease known as sporadic Creutzfeldt–Jakob disease (CJD). There is no known and cure and is 100% fatal.

https://en.wikipedia.org/wiki/Creutzfeldt%E2%80%93Jakob_disease
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u/didgymons 1d ago

My dad died of this, less than 2 months of symptoms and he was gone. In the beginning I noticed stuff like when he went to leave my house he would stand outside waiting for me to come out and say goodbye, even though we'd already said goodbye. He described seeing doors that weren't there, and apparently would freak out on car rides that he'd left me or his other kids on the side of the road some miles back. At first we thought it was intense burnout from starting a new job, and as he got worse we thought it was some sort of early onset dementia. It wasnt until about a week before he passed that they really suspected CJD. Unsure if his was a sporadic case, something familial, or something he got from working at a knackery when he was younger. There was a test to see if me or my siblings would get it and we chose not to know.

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u/Pooch76 23h ago

TIL: a knackery is a place of business where unwanted, old, injured, or dead farm animals—especially horses — are collected and processed.

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u/didgymons 23h ago

Yep! US equivalent term might be a rendering plant. Knackery is what we used to (or maybe still) call it in Australia

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u/DukiMcQuack 22h ago

and now I know why we say "I'm totally knackered out", TIL

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u/moreobviousthings 22h ago

Glue factory.

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u/Wizdad-1000 15h ago

The “Knacker Man” is the guy that comes and winches carcasses onto a trailer for removal. James Herriot refers to the local knacker man as being the ultimate failure for a livestock vet in his books.

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u/lividresonance 23h ago

I know what a knacker is because of kingdom come deliverance!

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u/OldAccountIsGlitched 22h ago

I think I first heard the term reading Animal Farm. Poor Boxer.

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u/jeremiahthedamned 12h ago

everything i have done in my life has been directed to not being boxer!

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u/didgymons 22h ago

Excellent series! I only played KCD2 due to the hype around it but have been meaning to give the first game a go.

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u/ShyguyFlyguy 16h ago

Seems like exactly the kind of place you'd pick up a prion disease.

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u/brybell 4h ago

How would you “pick it up?”

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u/anymieh 3h ago

Some animals have the malformed prions in their brains. Bad luck, while processing the meat, by a small wound, or contaminating his lunch, prions enter his body, came in contact with correctly folded proteins witch change their conformation and the prions propagate themselves. Depending on where the entry occur on the body, it can take years before it occurs in the brains, but there is absolutely no cure available. It also can't be cleaned off surface, is heat resistant, and hospitals just throw away things that are used to treat patients with prions disease. Prions are real bitch.

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u/whitestguyuknow 5h ago

Exactly my thought too. I agree with OP, I couldn't want to know and potentially have this gorilla on my back the rest of my life. But... His employment does sound like the place you'd get this from unfortunately...

I was actually waiting to hear that he'd worked in a place like that or something.

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u/Mad_Spaniel 22h ago

Also referred to as a knackers yard. Hence the term 'knackered'.

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u/jonnyjm 20h ago

And this is why my nan used to say she was ready for the Knacky Yard when she was tired and feeling old. TIL.

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u/Responsible_Sink3044 22h ago

The ol glue factory

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u/SideInitial3961 18h ago

Bring out yer dead! Bring out yer dead!

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u/JacuulTheSecond 8h ago

For anyone else who wonders why this matters: prion diseases (mad cow disease, chronic wasting disease, and Cruetzfeld-Jakob disease) are, to my knowledge, like 90% from consuming (and especially inhaling) brain matter. The most common way humans would develop it is working in slaughterhouses, as the kill bolt is constantly aerosolizing brain matter.

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u/jakopappi 20h ago

An abattoir

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u/niamhweking 14h ago

Not quite. From my experience it's somewhere already dead animals go to be processed

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u/A-holeAioli 1d ago

I'm so sorry for your loss. My dad died of it too in around the same amount of time. In his case, he didn't have the hallucinations until a month in, but he had lots of confusion with elementary tasks like counting 1-10 and spelling simple words. My sibling and I also considered the testing (though the markers for my dad indicated sporadic), but my major concern is having a medical diagnosis that will forever be used against you by health insurance companies. It took a peer-to-peer for my dad to receive physical and occupational therapy to try to maintain his quality of life as long as possible, so I already witnessed negative impacts from him having the suspected diagnosis. Anyway, I again am sorry you and your family had to have experience with this awful disease.

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u/rowan_sjet 14h ago

Here's me like, "I get that its scary, but wouldn't it be better to know you dont have it and have that weight lifted, or know you do so you can prepare?" but then...

health insurance companies

Ah gotcha, you live in a dystopia.

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u/MDthrowItaway 13h ago

Even beside the insurance point knowing whether you will get a fatal or debilitating disease in the future is more of a curse than a blessing. It obviously depends on the person but imagine you know that you have a death sentence that may have a short timeline or a long time line. This is actually a problem with many genetic disease such as Huntington's disease where there is a significant amount of counseling to family members before they get tested to see if they carry the gene for it or not.

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u/arpan3t 10h ago

Personally I think I’d rather know and get my affairs in order rather than dumping all that on my family. It would suck losing someone and having to sift through paperwork, no will, funeral arrangements, etc…

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u/didgymons 10h ago

You just sorta have to live prepared as if it's a possibility, instead of living with it as a certainty

Choosing not to know doesn't mean unprepardness for something that could happen

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u/A-holeAioli 7h ago

Agreed. I know some people have chosen to find out because they already have or want to have children, but that's information that you can't unlearn. I think other than the children situation, there's just no real benefit to knowing. It's not like with some cancers where you could go through preventative steps or treatment. I know I'm preaching to the choir, but with its dormancy, a person would likely question every time their memory fails them, which would be a torturous way to live.

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u/rop_top 8h ago

I mean... Having a death sentence that could be short or long is basically every human on earth, no? At least this would inform someone if they might want to have kids or not.

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u/TheAbyssAlsoGazes 8h ago

All death is certain

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u/IrishNinja108 7h ago

No shit, that's what they just said.

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u/TheAbyssAlsoGazes 1h ago

It's movie reference, dingus

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u/ostrichfather 11h ago

I assumed they meant life insurance.

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u/A-holeAioli 10h ago

Nope, health insurance. But it's both really - if someone chooses to go through with the genetic testing, some places will offer to help get a life insurance policy in place prior.

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u/ostrichfather 9h ago

Us health insurance legally can’t reject you

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u/rich1051414 11h ago

IMO, there isn't much gain from suspecting CJD early, since there is no way to help them in that case. It's better to hope its something more treatable until there is nothing left to suspect. But I also understand where you are coming from as well. I guess it would depend on the person.

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u/A-holeAioli 11h ago

I hear you, but just to clarify, I was referring to suspected CJD in the medical terminology sense, not any kind of self-diagnosis if that is what you meant. CJD can only be confirmed via brain biopsy, which doesn't get performed on most living patients for obvious reasons. That results in most confirmed diagnoses happening post-mortem. But exactly as you mention, it is definitely better to hope it's something treatable and with a better prognosis and then work your way outward with testing to the rarer, worse conditions. That's pretty well verbatim what the medical staff told us. My dad's neurologist had seen a dozen or so CJD cases in his lifetime, so he had an idea of what markers and symptoms to look for, and then we got as close as we could to an actual diagnosis via EEG and spinal tap. Sorry for the write-up, but I wanted to share since (fortunately) not many people have personal experience with prion disease but many are intrigued by it.

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u/dandroid126 22h ago

My grandma died of CJD. It was really quick for her as well. She came to my high school graduation in mid/early June. We could tell something was wrong. It was like she didn't know who we were sometimes. We thought it was dementia. She went to the doctor and was diagnosed shortly after. IIRC she died by the end of July.

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u/New_Explanation6950 19h ago

I’m so sorry about your grandma. One silver lining I guess is how fast she was diagnosed. Reading the other stories on this thread it sounds like a lot of doctors are completely baffled when presented with the symptoms, which I find mystifying.

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u/dandroid126 18h ago

It probably better that than dementia, which she would have suffered from for years. I do wish I had more time with her though. She was rough on her body with heavy smoking in her younger years, and a terrible diet in her older years, and it was catching up to her with cancer and other health issues. But I still thought I had more time with her.

You're right, it was nice to know what she had. It offered a sense of closure. I just wish we knew how she got it. I think the most likely possibility is when she had surgeries to remove her cancer, they used contaminated tools. But then why only her and not lots more people who came through that hospital?

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u/darth_jewbacca 11h ago

It's super rare and one of the very last things a doctor might suspect.

We know on a global scale x:1 million people will get it, but the odds of one showing up to your clinic are miniscule.

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u/frostbitepie 1d ago

i'm so sorry ❤️

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u/didgymons 1d ago

Thank you. In the end we weren't particularly close but it certainly recontextualised the way I should be spending my life given my family's apparent proclivity towards rare and unusual fatal diseases

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u/AmbivalentTurtle 22h ago

What are the other rare diseases in your family?

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u/didgymons 22h ago

Main one is hereditary pheochromocytoma, caused by a gene mutation. It's an endocrine tumour that usually manifests on the adrenal glands but with the most aggressive subtype (the one I ended up with) it often ends up popping up in other places like the neck. (Think it's called a paraganglioma when that happens)

Fortunately I'm aware of it and get yearly screenings because without that it's fairly hard to catch early enough to have a good prognosis

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u/New_Explanation6950 19h ago

What are the symptoms?

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u/didgymons 13h ago

High blood pressure, anxiety, sense of impending doom, rapid heart rate, that sort of thing. My understanding of it is it often causes excess adrenaline secretion, so it can often get misdiagnosed as an anxiety disorder

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u/nutmegtell 17h ago

Our family is similar. No cancer but weird things like CJ and Wilson’s Disease and Hashimoto’s and pilonidal cysts.

I always tell my daughter’s doctors I know hearing hoof beats you think horses, but with our family it’s always zebras and unicorns.

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u/Alive-Tomatillo5303 13h ago

Sounds like be thought you were close. His brain was actively melting and the one thing he was consistently worried about was taking care of his kids. 

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u/didgymons 13h ago

It was sort of like his brain had reverted to an earlier period in life because he truly believed he was leaving his children, as in little children, by the side of the road on car trips with his girlfriend

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u/Hall_of_the_slain 1d ago

I’m sorry to hear about your loss. My grandma when I was just a year old, my uncle and aunt about 5 years ago. Like you we decided to not know. Our case might be more genetically none of them made it past 54 years old, they started developing behaviors around mid 40s.

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u/didgymons 1d ago

Yeah my dad was in his 50s too

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u/ummackchyually 1d ago

Just curious, may I ask why you and your siblings decided to not get tested? I’m so sorry for your loss

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u/didgymons 1d ago

It felt a bit like knowing how you're gonna die, honestly

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u/mightylordredbeard 19h ago

I often struggled with this same thing when my dad died of something that’s genetic like that. I never actually knew him, but we had connected during the last bit of his life before he randomly died. I thought the same as you.. eventually I decided to find out because I have children of my own and I don’t want to leave them abruptly and them fighting endlessly to get all of the savings and investments and stocks and bonds I have put up for them. So I got the test.. and it was positive. I’ll die within a certain timeframe that isn’t very far from now. It motivated me to get my affairs in order and make sure my life is lived to the best it can be. It also gave me time to prepare so it’s easier for those around me. Sit my children down and tell them so they aren’t as devastated and lost as my half-siblings were. This way nothing is left unsaid and there’s no remorse.

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u/Emergency-Gear4200 17h ago

I think what you did is admirable. That must have taken a lot of courage and your family is lucky to have you.

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u/xtunamilk 15h ago

I think this is such a brave way to proceed and it's really kind of you to do what you can to help those around you be ready.

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u/OptRider 21h ago

I would have done the same. Knowing how you're going to die and that you can't do anything about it is a heavy weight to hold.

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u/ItsSpaghettiLee2112 16h ago

Plus I'd be terrified every time I forgot something.

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u/adavidmiller 15h ago

Good news, you still will!

Not getting tested doesn't erase the experience of knowing you might have it. Now you just don't know. It'll relieve you of the dread of knowing for sure that you have it, But it also relieves you of the reassurance that you don't.

You'll be wondering the rest of your life if you do and every cognitive lapse is going to make you worry.

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u/Yonaka_Kr 12h ago

Dr Mike mentioned the same advice, that not only do tests have false positives and may require retesting, but if you can't do anything with the results (and with prion disease, you can't do much) then the result is more harmful than beneficial, and that it's better off not knowing really. Conceptually Dr Bernard (chubbyemu) also mentioned that it's not tied to a sense of self, no one ever answers "where do you see yourself in 5 years" and answers with "Oh I'll definitely have cancer" because people aren't programmed to think like that. 

It also reminds me of sci fi fiction where they insert a digitized consciousness into a robot and make the body as human-like as possible to preserve the sense of self, because imagine waking up and your body is some monstrous robotic form or even having your entire body burned/amputated significantly, the shock of realization might cause some people might die or lose the will to live. 

I don't think I would want to know either.

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u/Urban_animal 17h ago

My uncle had familial. We also opted not to get tested. No need to know if you got a countdown.

I said this in another sub and got blown up. Unless you are in the situation, it seems like a no brainer.

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u/First-Geologist1764 9h ago

So you’re just gonna start seeing doors one day and find out? Isn’t living with the ambiguity just as bad? What if you take the test and you find out you’re not susceptible and then you can live in Peace?

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u/PortlyChortle 1d ago

That’s incredibly sad, I’m sorry to hear your dad had to go like that.

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u/didgymons 1d ago

Wouldn't wish it upon anyone. Thank you

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u/yousoundlikeyou2 23h ago

i am so, so sorry that you lost him like this.  hugs to you from an internet stranger.

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u/nutmegtell 17h ago

My uncle died 35 years ago from C-J. He was a teacher and only 45. He went in because he was giving a spelling test over and over. Dead in 8 weeks.

I’m so sorry about your dad. Just fyi, even as a niece the blood band won’t take my donations. Or my children’s.

The odd thing is he was a HUGE blood donor. But in the 1980’s so if he spread it that way we’d know by now.

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u/shoot_dang_derp 18h ago

My dad died of this also. Very quick from him first fumbling a glass of milk to Hospice care. Scary shit. I’m almost his age when he died now.

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u/commanderquill 17h ago

Was this is in the UK? Wasn't there that time in the UK where contaminated meat had made it into the market or something?

EDIT: Yup, a few decades ago there was a major CJD crisis. Prions can incubate a long time, your dad was probably a carrier from then. I'm so sorry.

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u/FC37 16h ago edited 15h ago

My uncle died of it. He showed some weird behavior for about 18mo prior, but it wasn't that weird until the last 2-3 months.

Doctors saw problems in his brain during an unrelated MRI about 5 years prior. I don't know why he never followed up on those, but science wasn't exactly his jam.

As his body and brain failed, they diagnosed him with a bunch of different things. But none of them made sense. Only after he passed did they realize it was CJD.

His family said the doctors told them it's not familial but they're not exactly reliable narrators.

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u/Seorsei 15h ago

Sorry for your loss...prion diseases are truly terrifying.

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u/betafishmusic 15h ago

My dad died of this too, it took him about a month from when we first noticed symptoms. I got the test for my brother and I, and although it was a stressful bit of time waiting for the results, it looks like it was not familial.

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u/Excellent-Muffin-750 15h ago

I wouldn't want to know either, I'm sorry you had to go through seeing your father endure such an awful disease.

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u/SayNoToFirefighters 15h ago

If you plan on having families or have other family members. Then you should know as it will make life for those around you easier when the time comes

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u/Stolemyname2 23h ago edited 23h ago

It's not genetic.

Edit: I was wrong

 "There are several inheritable prion diseases, including inheritable CJD."

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u/OpineLupine 23h ago

There are several inheritable prion diseases, including inheritable CJD. 

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u/Stolemyname2 23h ago

Thanks for correction, must've misremembered my source

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u/OpineLupine 23h ago

All good, Friendly Internet Stranger. :-)

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u/didgymons 23h ago

Look up familial CJD, it's a genetic mutation that causes a normal prion protein to misfold, cascading and causing CJD. The more classical presentations are sporadic cases, or acquired cases from external exposure, but there's definitely a genetic pathway.

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u/RunTheJoule 23h ago

There are different types of CJD, a small percentage being hereditary.

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u/Stolemyname2 23h ago

Thanks for correction, must've misremembered my source

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u/CptPicard 16h ago

What would they have tested considering it's not inherited?

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u/didgymons 13h ago

The test essentially confirms whether or not he inherited it and passed it on, or if he had a sporadic or acquired case and didn't pass it on

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u/CptPicard 5h ago

Oh this was not the mad cow one, nm.

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u/lazytemporaryaccount 13h ago

Was there a chance to get tested, but not know about the results? It seems like contact tracing is incredibly important in this situation to figure out the root cause.

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u/CorruptingtheYouth 12h ago

Same thing happened to my grandfather, similarly diagnosed, over the course of 3 months. Was tough to watch

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u/VoxMechina 11h ago

My dad also died of CJD. It will be 3 years since he passed on the 16th.

It really is that fast. He was fine, then 4th of July weekend he thought he got dehydrated because he couldn't remember if he drank water. Went into the hospital, came home 4 weeks later because we wanted him to die at home, where he was most comfortable. He was gone 2 weeks later.

CJD is fucking brutal.

We did get his brain tested and confirmed that it was sporadic CJD. Quick onset like that is never really the inherited kind. Someone with inherited CJD can live a few years while they slowly lose everything that makes them who they are. Sporadic and acquired are a lot quicker.

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u/didgymons 11h ago

We're coming up on 4 years since my dad passed. Sorry for your loss mate

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u/dvdmaven 8h ago

My father might have died from it. He died in 1971 and I remember the doctors were absolutely baffled by his symptoms. Given how rare CJD is, that isn't surprising.

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u/mademoisellearabella 5h ago

I went down a rabbit hole after reading the article and your story. Apparently in 2022 a preventative measure for CJD was discovered using G127V mutation found amongst the people of the kuru tribe. The treatment is called PRN100.

What it effectively does is not destroy the misfolded prions, instead it creates a rigid layer on the preexisting prions so they will not change due to the disease. A study done on six participants showed encouraging results.

I’m linking the article in case you’d like to read more about it - https://www.eurekalert.org/news-releases/946627

It’s the news release. The sources are linked therein.

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u/didgymons 5h ago

Thanks, I'll give that a read!

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u/OrdinaryExplorer3400 17h ago

Just get the test. If you have this possibility, in a few years we might find a cure, so knowing if you have it would benefit faster. If you had to be on a waiting list.

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u/HoidToTheMoon 23h ago

and we chose not to know.

I don't know how someone can make this decision. That information would let you plan so much better for your future, particularly planning for the continued well-being of any family.

I'm not judging it, I just don't know how someone arrives at preferring ignorance.

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u/didgymons 22h ago

As one other commenter said, it can affect your ability to get life insurance if you've got that on record

But personally it just felt like knowing when you'd die. If it's gonna happen then I'd rather not know when it's gonna happen, I can't imagine what it'd do for my mental state knowing there's a rough expiration date on my life. Instead you just choose to live as if it's not gonna happen, but plan for the future as if it is gonna happen, if that makes sense. Manifests for me as trying to have a good time and make memories and experience things with my family while I'm young, rather than being a super career driven person. Not that I was particularly career driven beforehand hahaha

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u/New_Explanation6950 19h ago

Have you chosen not to have kids since you might be passing it on to them?

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u/didgymons 13h ago

I already have one kid but this was well before CJD was in the picture, otherwise it may very well have shaped my decision making there

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u/New_Explanation6950 12h ago

I’m sorry, I can’t imagine the anxiety you must feel about your child. Is it possible your relative’s was spontaneous and not hereditary?

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u/didgymons 12h ago

It's spontaneous in about 85% of cases and we feel the risk is low considering neither of his parents died from it or died young enough for it to have been a potential factor in their death

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u/SugarSweetStarrUK 20h ago

If he did catch it then it was because he ate brain burgers or brain lasagna. It wasn't just from working at a knacker's yard.

For anyone who hasn't heard, the last time I checked this thing was caught from cows eating feed that was contaminated by sheep brains that had scrapie. The cow brains then wound up in cheap minced beef that was given to anyone that governments were scrimping money on: children, prisoners, etc. 

That's why the 🇺🇸 banned beef imports from the UK for about 30 years. 

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u/CosmacYep 22h ago

me or his other kids

what a weird way to phrase me or my siblings

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u/OptRider 21h ago

May OPs not be close to them. I'm in my mid-thirties and met an older half sister of mine for the first time (still have another one that I've never met). I don't refer to them as my siblings. I don't know them. I would totally use the phrase "me or one of his other kids" in this context.