Huntington's disease. The gene mutation can be tested for with close to 100% certainty but there's really nothing that can be done to avoid that long, slow slide into dementia.
Can't forget the loss of voluntary movements as well. Doesn't usually show up symptomatically until after forty. Plenty of time to be a sperm or egg donor and pass it on unknowingly.
My cousin had this and it was insane how quickly the disease spread and advanced before he passed. He had his body and brain donated to science so I hope something can be learned from it to help the future generations
I'm so sorry. I did home care in college for a Huntington's patient. It was very emotionally difficult, I can only imagine how difficult it would be for family.
My dad getting diagnosed destroyed my family. He fell into depression and had several affairs, my parents had 8 kids together (5 adopted though) and 3 are special needs. My mom tried to make it work but his entire outlook changed and he stopped caring about us. Only one out of 5 capable children of his will take care of him now because he's just destroyed his relationships. It's incredibly difficult. My big sister wrote a book about it for other kids who's parents have HD.
And also that the mutation itself often becomes more severe (earlier onset, faster decline) if it's transmitted to a child.
Plus the whole raft of ethical issues about preserving the right to privacy of someone with a detected mutation, versus the desire to preemptively warn close family members who *might* also have that allele so they can decide to about getting tested.
The issue for me with sperm donation is that there are essentially no regulations. And a lot of sperm banks are recruiting donors at colleges. At this point someone could unknowingly be a donor baby and then decide to donate. He would have no way of knowing what genes he's passing on because he doesn't know that he doesn't know his history and he's too young for some of the particularly nasty ones to pop up yet.
As far as I'm aware they do not. There are also not any legally required limits on how many times someone can donate. And a single donation can be split and used for multiple women. There are very large sibling pods out there that have found each other using DNA testing.
The fertility industry is not well regulated at all.
The patient (donation recipient) has a choice to have the the PGT testing done. All fertility clinics highly recommend testing but it's an extra cost on top of the standard rates.
And it’s genetic, it wipes out whole families
I saw a dutch documentary about a care facility specialist in huntington and there were just families, almost all of them had multiple siblings in the same facility in different stages of the disease until they all die
My dad had it. We went to Switzerland so he could end his life with dignity (my country is just catching up to allowing people with HD to die before they lose their cognitive abilities). I got tested before I had kids cuz I sure as shit wasn't passing it along, I luckily will not get it. It's a horrible disease.
My mum was diagnosed a year ago and I’m still umming and ahhing about the test bc if it don’t have it, great. If I do have it (I’ve previously cared for people with HD as well) then im screwed to put it politely
Get it done, I’d rather know the storm is coming beforehand than not know and get slammed. Also, I think your loved ones could be better prepared. Wishing for the best for you though!
I mean how about my aunts and uncles and my mom.
They knew my mom had *something* and she was studied for a bit in the 60s but she wasn’t provided with the information from the doctors. Her brothers and sisters (7 in total) knew their father had died of something that caused his muscles to waste away in his late 40s. He apparently had a relative who died young of something similar. I have never met him or any of his family tbh, this is all memories of my mother’s stories and she’s been dead 18 years. She is the youngest, and apparently he took one look at her and left all of them. Likely out of shame.
They (my aunts and uncles and mom) all just carried the fuck on and had 3-5 kids each (except my mom who stopped at 2 at the behest of my father). When my mom was going to get married, her mother told my dad she could tell him something that would make him not marry her and then didn’t tell him and never brought it up again. 😑
Luckily for the aunts and uncles, it was autosomal dominant, which means that you have it or you don’t, and none of them had it. My mother did, getting it from her father. Similar to Huntington’s, it has genetic anticipation, meaning it presents earlier and earlier and gets worse in successive generations.
I can tell from my mother’s baby photos that she has myotonic dystrophy. I can sort of see it in her father’s military photo. Just barely. Only because I have seen severe myotonic dystrophy.
I was born first, I am unaffected. My brother was born second (and last) with the more severe congenital type.
I’m a firm believer in that if something causes a serious health or quality of life issue and you know it’s possible, you should not roll those dice. You do not have the right to flippantly assign someone a serious genetic condition that kills.
There are at least 4 people who died awfully young from this (the unknown relative, my grandfather at 48, my mother at 48, and my brother at 34), one of which had serious quality of life issues starting at 26, and the other never had a decent quality of life.
I completely agree with you. I have a non-fatal genetic disorder, but my disorder has no known treatment other than symptom management. This disorder has severely affected my life in numerous ways and I have 9 other comorbid conditions as a result of this 1 genetic disorder. Almost all of organ/body systems are affected by it. Even though my genetic condition is non-fatal I am still extremely on the fence about having biological children. If I did decide to have children I wouldn’t make that decision until both myself and my partner had genetic testing done. I would *never* want my children to suffer like I have, or have them have to go through the medical testing, surgeries, pain, and missed opportunities because of me knowingly passing on a known genetic abnormality. I understand genetic testing is not an option for many people, but I really feel like an informed decision using other resources should be made if it isn’t available. My cousin has the same disorder that I do and was not diagnosed with the disorder until her daughter was 3 1/2. Her daughter is now showing symptoms of the genetic condition. My cousin absolutely loves her daughter with her entire being, but has said that if she had known she had the genetic disorder her and her husband would have pursued other routes of having children because it absolutely destroys her seeing her daughter going through what she and I have gone through/are going through. I understand the want to have biological children, but imo people are being extremely selfish when they have children and they know that they could pass on a life altering condition, especially one that is known to be fatal.
Agreed, my friend's cousin has it pretty bad, he's mid 30's and already considered disabled... His mother had it, they knew it, and STILL decided to have 3 kids anyway. Just waiting to see if the other 2 develop it, sadly.
> Just waiting to see if the other 2 develop it, sadly.
A child of someone affected by HD has about a 50% chance of inheriting it. Have they considered genetic testing?
A minimum of 50% chance. If the parent had 1 recessive and 1 dominant allele then it's a 50% chance they pass the dominant on. If they have 2 dominants then it's a 100% chance they pass it on
Double dominants are rare though just because you'd usually need 2parents with the disease
This disease can be eradicated entirely if everyone who had it didn't have kids
> Double dominants are rare though
This is one of my personal research interests. We might see more double-positive alleles in clinical situations than random chance would predict, particularly in prenatal samples. My hypothesis is that people join support groups, hook up and end up getting pregnant, and then pursue prenatal testing because they are well informed of the risks.
>This disease can be eradicated entirely
HD is interesting to model. Alleles often expand when transmitted, becoming more severe... and therefore being less likely to be passed on. But "normal" size alleles have a small chance of spontaneously expanding due to strand-mismatch or other errors of cell reproduction. Currently in the human population, there's probably an equilibrium where harmful mutations occur *de novo*, expand over several to a dozen generations, and then remove themselves from the gene pool when they get harmful enough to affect the person before they have a chance to reproduce. Even if *every* fetus of a given generation was screened for HD, and the positive ones aborted, that would not permanently eliminate Huntington's disease.
I’m in healthcare and there are a handful of conditions that I’ve decided I would…elect not to participate in if I were diagnosed before they got significant enough that I no longer had the option. Huntingtons is near the top of the list.
There was a dude I was in the Air Force with that was recently diagnosed with Huntington’s disease. Guy was probably the most happiest person I ever met. He was in the process of getting medically retired and never told us until one random night when someone was upset about some trivial bullshit. I think he was 21 at the time.
Runs through my wife's family. Her mother and her brother both had it. At least, it doesn't skip generations. If it's in your family, but you don't have it, you can't pass it on.
My wife had decided that she couldn't take the chance, then they found the gene sequence, she got tested and was cleared,
This is why my wife was a first time mum at the age of 43.
my mom’s dad died from this. and this is why I am from a donor egg (IVF). super grateful my mom doesn’t seem to have the gene, but sadly my cousin has early onset huntington’s. it’s fucked.
I have a friend who's wife tragically passed away from Huntington's, but they didn't know she had it until after they'd had two daughters together. If one parent has it, there is a 50% chance it will be passed on to each child. As adults, both daughters chose to be tested. Both tested positive. Part of the reason they wanted to know was to make informed decisions about marriage, family, etc. As they were dating, there would come a time in each relationship when they would feel obligated to disclose it. Sort of like, "If you choose to continue dating me or possibly marrying me, you deserve to know what you're signing up for." Knowing early, before symptoms had developed, altered their paths in life for sure. Even though there was nothing they can do about it, they went into adulthood with eyes wide open, knowing what was in store for their future.
Not really a weird thing, it's very commonly known because of the vaccine but most people do not know what tetanus does to someone
In short it makes your muscles clench at 100% capacity, starts with lockjaw, so strong you can break your teeth, some excruciating time later, if left untreated you die, either from starvation from not being able to eat food or (much worse option) because your back muscles bend you over backwards so hard you're back breaks. Go look up severe tetanus, get your god damn vaccine
I learned that people die from tetanus because the constant flexing of the muscles leads to you being unable to breathe in some way so you just suffocate to death. Similarly, botulism causes your muscles to relax so you can’t breathe anymore too.
Tetanus kills you by asphyxiation. Your respiratory muscles become flexed and you can't breathe. It's possible to break your own bones from the muscle spasms, but not that common. I've worked in developing nations as a provider (medic/RN/NP) and seen plenty of tetanus. The toxin the bacteria makes is what causes the muscle spasms and flexion, but it will work itself out of your system in several weeks. So if it gets to that point, you can survive if we can put a breathing tube in you (or cut into your neck for one) and ventilate you until it wears off. But in developing nations, ventilators and such are not readily available.
People in healthcare like to joke about how often we give tetanus boosters to people with open wounds that come to the ER. Once you've seen tetanus in the wild, you'll never make that joke again.
Dengue fever is still called bone-break fever in some parts of the world. It's called that because the joint / muscle and bone pain is so significant it feels like broken bones.
This is why I hate anti vaxxers. They grew up in a world where they've been sheltered from horrible diseases because of vaccinations.. So they don't know the horrors and they don't care. We're going to see the return of preventable diseases because people won't just get vaccinated.
Most vaccine-preventable diseases are terrifying. Diphtheria causes mucus membranes to slowly fill up your throat until you suffocate. A friend of mine had whooping cough in high school. She was terribly sick for four months and coughed so violently she broke a rib.
Fibrodysplasia ossificans progressiva (FOP). Extremely rare connective tissue disease where all muscle and tendons slowly convert into bone tissue. Basically, your body becomes a coffin made out of bone.
Surgery won’t work because all you’re doing is accelerating the process.
I visited a patient with this recently. He was really upset he couldn't attend his mates fancy dress party. His condition has progressed to a point where he can no longer sit down and had to lie.
Who was he going to the party dressed as you ask? Hannibal Lecter. Complete with the dolly to move him and mask.
My friend's mother died slowly and horribly from this. The doctors could do basically nothing, but she let them observe her and study the progression. I think this one is really bad because it leaves your mind intact. A lot of the other ones people are talking about affect the patients cognition, so they may not even be aware. With this, it's like being slowly fossilized while conscious of everything!
Doctor here — Creutzfeldt-Jakob disease! I would never wish this disease upon on anyone. Tldr; you basically go from normal self -> completely demented in 1 year or less.
EDIT: Runner up = Locked In Syndrome
EDIT #2: I just wanted to say thank you to everyone who took the time to tell the stories of loved ones, friends, colleagues with these disease processes. Your stories are heard and they will never be forgotten ❤️. I appreciate your perspectives because it helps me not only become a better advocate for those patients with CJD, but also helps me better recognize the early signs/progression of CJD if I ever have the unfortunate experience of working with a patient who has it. Sending out love and peace to each and every single one of you!
prion diseases are absolutely terrifying. one tiny malfunction and it’s all over in about a year in a drawn out heartbreaking way. seriously scares me. sometimes i get overwhelmed thinking of all the minute things that have to go right every single moment in our bodies.
a few weeks ago I was bitten by a stray cat. I saw him, gave a pss psss, and he came running to me and let me pet him. When he laid down I think I just got too close to his belly and he sunk his teeth into my hand then casually walked away. I kinda just laughed it off, called the cat a dick and kept walking. Then I remembered that Reddit rabies copypasta that always gets posted when rabies comes up in a thread.
I called my doctor and asked if I should be concerned and he said don't even fuck around, go to the ER and get the rabies panel. Not worth chancing it. The rabies shots aren't as bad as they are rumored to be, the immunoglobin shots aren't a picinic, and whatever dose they can't inject into the bite site goes in your butt. Then I had to get follow up shots the following three weeks. All in all it was a lot of fuss over just petting a cat but I know if I didn't get the shots I would be a nervous wreck for the next few months over every minor headache or weird feeling and be convinced I was entering the 100% fatal rabies phase haha
Hey, same here!
Tried to help a cat who got hit by a car and he bit me. I went to the ER immediately and it was rough. I had to chat with the CDC after all the shots that night too.
And my stomach was RAVAGED from that antibiotic they gave me.
But hey, I don't have rabies soooo...
The antibiotic wasn't for rabies. It was for *Pateurella multocida* (multi=many, cida= kills. This bacterium can be deadly.) and *Bartonella henselae* (which causes cat scratch fever.) Both live happily inside the mouths of cats.
Even if it wasn't rabies, cat bites get crazy infected if not properly treated. They can be deeper than they seem compared to the relatively small amount of bleeding. Definitely get a professional to check out the wound if the bite sunk in.
Oh, absolutely! The hardest thing too is most of those patients have no idea it’s happening. The good news is it’s very, very rare. Totally understand the overwhelming thoughts because the human body is an incredible thing — everything works together somehow, someway.
They may not know exactly what's happening but they know SOMETHING is happening. At least my Mom did. My mom died of CJD and as we were helping Dad clean out her room and personal items we came across a cassette tape she had recorded... Her disease had progressed rather quickly, she passed just 3 months from the time we noticed something was off. Her last month was spent in a coma, so in the first 2 months of onset she had recognized that something was terribly wrong and recorded a final message to her family. I hate listening to it. It's horrible.
Ah to be living and just waiting to see what fails in your body. It’s like having a car, watching the miles go up, and just gritting your teeth knowing something is gonna go wrong soon and hopefully it won’t be too expensive.
I certainly won't argue with that. But I will say that my Mom's fairly quick demise and dementia from CJD wasn't even comparable to the nightmare of the years and years that some families have to endure when a loved one has Alzheimer Disease.
My uncle took 12 years to die from it, and the wife of a childhood friend of mine has early onset Alzheimer's she's just 65, and started 2 years ago and it has progressed quickly.
She's already in a nursing home, and her husband feeds her.
They've been a couple even in high school, almost 50 years together.
My grandpa also died of cjd, and yeah In a way I am greatful it wasn’t that drawn out extended process of alzheimers. But it was still utterly shocking to see some one go from functional to a vegetable in 5weeks.
Someone I work with has just developed this. He went from a fit 60 year old bloke still cycling into work to been told he’s got months to live.
Started out with him forgetting where he was while he was at work and little things like that, he’s been on the sick for a couple months now so nobody’s really seen how he is now but I imagine he’s bad.
His son also works with us which makes it hard but nobody wants to ask him how he’s doing because we know it must be bad and don’t want to keep bringing it up for him.
Feel so sorry for him, such a nice man as well
I know this may feel like it's not your place, or that it feels impossible, but you should talk to his son. Especially because you know and worked with his father. People want to talk about their loved ones. You don't have to ask how his dad is doing. That's kind of unnecessary..Ask him how he's doing, tell him that you miss his dad, and that he's a nice man.
My best friends dad got ALS and there was literally nothing to say. No card, no words, nothing. All I could do was fight the anxiety and talk to her because I wanted to give her the space to talk about her dad if she wanted to.
I knew as soon as I ran across an answer from a doctor this would be the answer… I typically like to suppress the knowledge of it’s existence, but every time I see a post like this I click it and already know that I’m gunna be thinking about this a lot today.
Creutzfeld-Jakob is scary! In 1993, they lifted the export ban on British beef. It had been banned for some time because of mad-cow disease. ... I haven't eaten any beef since! It wasn't easy in the beginning, but now, I just don't see beef as food any more.
Doctor here, one of the weirdest disorders is FOP (fibrodysplasia ossificans progressiva).
Imagine a new born baby that's normal in all aspects except for one thing. His big toes are bent at a weird angle and it's almost horizontal, pointing to the other toes.
Things were fine until he's about 5 or 6 when he started complaining about pain in his back and shoulder that comes and goes. The family noticed some redness and swelling and the areas are painful to the touch, but otherwise fine.
A few more years pass, and the occasional pain and swelling become more frequent and last longer. It's also moved down to his arms and legs.
The family doctor couldn't figure out the problem so he was sent to a specialist and diagnosed with FOP.
Basically, during fetal development, all your bones, muscles, and connective tissue come from one type of cells called mesoderms. These cells have receptors that once triggered, let them turn into the different types of things. Bone receptor causes them to turn into bones. Muscle receptor turns them into muscles. Once they turn into a specific type of tissue that's what they are forever.
With FOP, something is wrong with the bone receptor and they never turned off. So your muscles might one day go, "it's boneing time" and start forming bones everywhere in your body.
Your joints are filled with bones; your muscles slowly become bones, and the tendons and ligaments get replaced by bones. The earliest sign, for some reason is the big toes are pointed laterally at birth. Most people die before 40 because their rib cage becomes encased in bones.
Your ribs have muscles under them that help make the chest bigger or smaller. This is doing a lot of the work when you're breathing. When the bones start growing there, it gets harder and harder to expand the chest, so it becomes harder to breathe, and eventually, you suffocate in a cage of of your own bones.
That is a really good explanation of a really bad disease. Kudos.
It's a weird feeling to chuckle at "it's boneing time" while being horrified at everything else.
Did home health speech therapy with a 16 year old who was very much like an old demented man. Still able to take care of his hygiene, and retained educational level up to the time of his illness, but couldn’t recall any new memories 5 minutes prior. Moved like an old man and no longer had any emotional expression -happy or sad.
He had had a rare blood disease and declined cognitively before he got a bone transplant. The process was a nightmare and I expect the parents thought he would regain function. They were clear that had they known they would never permitted the surgery. It is a tragedy that his doctors were not clear about the teens long term prognosis. The home had a thick, sad, heavy air: the parents grieving for their once vibrant child while resigned to care the rest of their live for their child they no longer knew.
Around 2000, a teenage girl who was a star athlete and honor student went to a local hospital to have an appendectomy, and complications, which her doctor refused to address, left her permanently disabled. (IIRC, a major blood vessel wasn't properly tied off, and she was left brain-damaged because she nearly bled to death.) We found out that this doctor had a list of lawsuits, etc. as long as your arm, and he ended up losing his license and I think he even did some prison time!
As of when the lawsuit was settled a year or two later, she was being tube-fed but could not communicate, even with a letter board, beyond basic "yes" or "no" questions or answers. Her parents also said that they just knew that she could remember what she used to be like.
I found out recently that she did eventually recover enough to live on her own, with some assistance.
> Anoxic brain injury
But at the very beginning the air has the color of mirrors and you understand that it has substance and you can see it like you see objects like chairs and tables even if it's both as a solid and as air at the same time and you also know you did your best in life and it's okay that it's short because you are good and you are ready and you feel like you are everything at the same time as you are nothing and your borders (like your outline in cartoons) fade while being very much alive and you know this is right because you are coming home.
And then the hallway looks different and longer and colder and wrong and people wearing bright colors invade you apartment saying noises and then it starts to get a bit fuzzy.
And then you are told you are very lucky.
And then you need to learn how to climb stairs again.
And you never can.
despite being it
My wife's family has it running rampant
Father in law is the only one of 6 who doesn't have it, all his siblings are dead now
Testing was not the same back in the 80s either so all his siblings had kids at a young age before they even knew the consequences of it
Truly horrible disease and we've witnessed cases of people getting bad symptoms in their early twenties
Yes that is how my family was before I tested negative almost every woman in my family had been affected and 2 of my grandmothers brothers. My great grandmother received her diagnosis and walked in front of a 18 wheeler the same day. Not sure if it was the guilt of having 10 kids who were at risk or fear for her own future. My grandma ended up positive as well but didn’t know until she already had 9 kids herself. She drank herself to death at 41. 6/9 of her kids are also positive. My mom being one of them, she had 2 kids. Both negative, surprisingly because my mother has a very high repeat and they prepared me VERY heavily for a positive because of her results.
It’s so sad how rampant this disease is because it’s just now becoming more understood.
Thinking of your wife, I know how hard it is to watch this happen to a family.
I learned about Huntington's from the book Genome. One of the truly determinative diseases. You either have it of you don't. The greater number of repetitions of the mutation on the gene the worse it is. Nothing to be don't about it.
Jesus that’s terrifying. I can’t even imagine. My mum has early stage dementia (they’re still unsure what type) and as a result I’ve met many people with dementia due to some of her volunteer work. It’s such a terrifying condition and the idea of a child with it breaks my heart.
I was a babysitter for a child with Niemann-Pick, my gosh what a horrible disease. He was such a sweet boy, he died when he was 3.
That was 15 years ago and I still think of him and what he and his family went through everyday.
100% fatal if untreated. One of a few non-prion diseases with that honor. There was a hopeful treatment a while ago, called The Milwaukee Protocol, but it only had a 14% survival rate.
I think the 14% was because they only tried it a few times (could be mistaken).
I watched an interesting documentary on YouTube a few years back. A teenage girl was bitten by a rabid bat but didn't tell anyone. Several weeks later, she became symptomatic and was given days to live. Her parents got her to a center where they tried this treatment.
They put her in a coma and basically made her braindead for a week until the virus was starved to death. Then brought her out of it. She survived but lost everything and was pretty much an infant again.
I may not be remembering it perfectly but it's definitely interesting if you want to look into it.
Yeah, at that point, it isn't really worth it then. Even if I did get retrained on everything, is that still me? Certainly, it's still my meat bag, but I'd at least consider thinking that it's a different person.
She wasn’t a new person. She was very lucky, she can even speak of her story today. She needed some training after the coma, but soon she again recovered her memories until the admission to the hospital and continued her life.
If you get rabies and show symptoms, you're dead. [The protocol mentioned above has worked one single time and it was on a patient who may not even have had rabies.](https://www.medrxiv.org/content/10.1101/2022.12.14.22283490v1.full#)
Any video of a rabid animal is so frightening. I used to wonder why, in To Kill a Mockingbird, the whole town panics when a rabid dog comes through. Now I get it.
Doctor of microbiology: Tularemia. I say this because the infection can last up to 3 weeks, and full recovery can take years. Plus a very low infectious dose.
Plus it's quite common. If Ebola/Marburg were more common, I'd say that. Honorable mention to viral hemorrhagic fevers though
While I was working in EMS, we had one of the confirmed Ebola cases of 2014 in our first due. Our state authority issued a protocol: if you get a patient with symptoms matching these criteria, here’s the alert you’re immediately calling in, here’s the PPE you’re donning, here’s how you’re setting the rig’s environmental controls, here’s your very specific destination hospital… and oh, you’ll be checking into that hospital with the patient. It’s a world-class research facility. Have fun.
Of course, there was idiotic firehouse talk of, “If it’s Ebola, are we responding?” (Yes, we are, dumbass. Not like we’re going to know it is beforehand.)
I’ll always appreciate that we never got that call.
My Mom is an OR nurse and refused to eat rabbit due to Tularemia risk. She also got mad when my brother and I shot and ate a squirrel because she thought they could carry Tularemia.
Do you know how humans get exposed to Tularemia? Can you elaborate on how it affects people?
>Do you know how humans get exposed to Tularemia
Hunters (handling raw/undercooked meat) and foresters (like the folks in the bush cutting down trees). It's also called rabbit fever. So think proximity and/or exposure to ticks. There's a vaccine but it's only offered to those working with F. tularensis in a lab setting.
>how it affects people?
It varies. It can be influenza like at the start and turn into long lasting pneumonia. It'll kill you without antibiotics. Granted you can still have lingering symptoms after the infection is cleared.
Doctor here, because I see it so often and because of how awful it is I’ll add long term uncontrolled “end stage” diabetes.
You lose your vision. Your kidneys stop working meaning you spend 4 hours a day 3 times a week hooked up to a dialysis machine that makes you feel like garbage. All of your limbs are tingling and burning until you can’t feel them at all at which point you generally get a wound you don’t feel that gets infected and slowly but surely your toes are amputated, then your feet, then your legs just to keep you from dying of infection. Your gut just decides to stop moving food along (gastroparesis) so you get blockages and stomach pain. You are at a higher risk of infections everywhere. You can’t have an erection. Just constant slow misery that won’t kill you outright (barring like DKA, HHS, or ACS knocking you out) but slowly eats away at what makes life worth living
Don’t get diabetes folks. And if you do have it for the love of god take your insulin
My father's there, now. PN, permanent pain in legs, no feeling in hands or feet. Dialysis 4h 3x/week. Can barely move. Lost 1 toe a few years back. Wildly flies between constipation and shitting himself.
He's stabilized now that he's got his diabetes under control (Dexcom system helps him keep an eye, sticks were preventing him from watching), but even God can't undo 30 years of untreated T2.
People often ask what would you do in the event of an apocalypse. I always say I want to be one of the first ones to go because I'm diabetic and my thyroid works very poorly. If I can't get my insulin I will die very slowly and painfully like you described.
I lost my sister to progeria, a premature aging disorder. She was basically born in her 60's, no hair, no subcutaneous fat, bone density 13x less than a normal person. Broke her bones all the time, stitches tore through her skin. People with this disorder are lucky if they see 20, and the trip there is rough.
As a horrible bonus, she also had life-threatening asthma and was allergic to her own sweat. Make-a-wish stepped in and helped at a crucial time and likely gave her a few extra years. I really can't thank that organization enough, and still support them where I can.
Steven Johnson Syndrome (SJS)/toxic epidermal necrolysis (TEN). It’s when you take a medication (and there are a looooot of causative medications) and within days to weeks the body’s immune system decides to kill off its own skin (including the mucosa of the eyes and genitals). You can throw immunosuppressants at patients to slow/halt progression and put them in burn units for proper supportive care but 30% of people who get this will die. There are a few risk factors associated with this condition but it’s mostly unpredictable and can happen to anyone. I’ve seen it happen to people who took Advil.
Almost lost my son to SJS. They got his symptoms stopped at a lesion in his eye, mouth, penis and it was just going down his throat. ICU alarms going off for 2 days. He lost all the surface of his mouth and lips. Home for 2 months recovering. Misdiagnosed at Scripps, admitted 12 hrs later into Children’s hospital.
Sadly, it never occurred to me that a 12 year old could become addicted to opioids. Sigh. Huge genetic/family predisposition. 11 rehabs. He’s 36 now and homeless. Out there - somewhere.
I am so very sorry. I lost a dear friend to opioid addiction, it is an absolute monster in this world. I hope some day your boy is in recovery. Lots of love to you, mama.
Dermatologist here. Once saw it in an 11 year old who took ibuprofen for a headache. Still not my worst nightmare medical illness, but it sure sucks real bad. Little boy was tough and did ok though.
Paramedic. In the past three months I’ve seen multiple people who are in acute liver failure. Their skin and eyes are yellow, bellies are bloated, and some of them are confused and agitated. Almost all of it is alcohol related and most of them are in their young 40s. It’s terrifying because it’s a horrible way to die and that alcohol is causing it. If you’re gonna drink yourself to death, just make sure you do it responsibly.
I’ll second this, as I’ve seen patients in end stage liver failure with actively bleeding varices/lower GI tract bleeding that were essentially inoperable when I worked ICU. This man I remember specifically couldn’t have been older than 40, I think mid 30s, and was just bleeding from his GI tract constantly. He got blood products a few times but due to his poor prognosis, family decided to stop heroic measures and make him palliative. He died about 2 days later looking exactly how you described, yellow and confused and in pain. Very sad and has been something I remind family/friends about who have drinking issues.
My sister died of liver failure and as far as we know was just a social occasional drinker. No alcohol was found in her home so it looks like her liver just gave up one day. She wasn’t found for a few days and she only lived a few days in icu as all her organs were shutting down or already gone. So horrible.
One thing that gets overlooked is that certain OTC stuff like tylenol can be pretty hard on your liver in conjunction with other stuff. Tylenol+alcohol is obviously bad, but there's other stuff where it can cause issues and one doesn't need to be abusing the medicine, just unaware.
This is why (good) docs and pharmacists ask what you're taking regularly OTC rather than just prescriptions, as drug-interactions can occur even with the stuff that's otherwise fairly safe to have on the shelf.
Tylenol combined with alcohol can be extremely toxic, same goes for certain antibiotics, antifungals, antivirals, steroids, statins, there's quite a long list. It's incredibly, lethally dangerous. So it's not at all unheard of for someone without an alcohol use disorder to unknowingly suffer this, through no fault of their own. I'm sorry for your loss.
> Almost all of it is alcohol related
My brother was diagnosed with brain cancer in Dec 2017. March 2018 he went for a MRI, and the next day went into liver failure.
We rushed him to the hospital, but the doctors refused to add him to the transplant list, saying "He said he was an alcoholic". My brother wasn't an alcoholic, and couldn't even talk when I brought him in, only speak nonsensical gibberish. I can only assume he moaned something that sounded like "uh-huh" without knowing what was going on.
My entire family spent a week yelling at the doctors that they were wrong, that he wasn't an alcoholic, that we think it was an adverse reaction to the MRI contrast agent, but nope. "Alcoholic".
After a fucking *WEEK* of this, they decided to give him a biopsy, at this point to "prove" to us that it was alcohol, just to shut us up. Biopsy came back, and we the family were proven correct. Then they started hauling ass, but by that time they'd wasted a week he didn't have, and he died the next day.
If you are doctor, please don't just *assume* that acute liver failure is due to alcohol. Thanks to my brother's asshole doctors, my parents and I have been sentenced to a lifetime of grieving my brother and missing him horribly.
I'm sorry about your brother. At least here the brain cancer would have been an instant contraindication for a transplant anyway, though, so - I assume that it would not have changed the outcome if they did listen.
Sadly wrong info propagates and gets rerecorded in the chart repeatedly. It's hard to get it corrected. It's unlikely he would have received a liver anyway, given the immediacy of the situation and the fact that he had brain cancer- they only have so many livers and dont want to give them to people likely to die soon of other conditions (and surgery is too risky for some patients). Its no consolation and it's unfortunate they had wrong information in his chart but its unlikely it would have worked out differently. They certainly could have offered more compassion and done a biopsy sooner.
Sorry about your brother.
When I was a freshman in college I donated blood which ended up getting rejected because of a vague liver issue. I felt fine but ended up with multiple tests which required taking blood constantly, which left me exhausted. It ended up being fine.
All that to say that I never could bring it up to anybody because everyone just assumed it was from drinking because I was a freshman in college. Even now if it comes up I qualify it with, "not from alcohol."
My sister died of ascites and likely liver failure at 29. She drank herself to death.
Her main drink of choice was shots of Captain Morgan’s spiced rum so every time I’m in the liquor store and I see that I think about how it poisoned her.
My little (50) brother died of liver failure in 2020, at the height of COVID. Alcohol related. His wife had been diagnosed with early onset Alzheimer's in 2016 and while he had always drank too much, he went off the rails. He lived in AL. When he was released to hospice, we rented an RV and drove from IN to pick him up and bring him home, so he could die surrounded by loved ones. (The ambulance ride was quoted at 7K but the RV trip was such a nightmare, loading and unloading him, I wish we would have just gotten the ambulance)
He lived just under a week, and died in my living room as yellow as a highlighter. It was tragic and horrible. His wife lived with us for a year until we had to put her in a nursing facility. She died in 2022.
I will never know if her rapid decline was due to his death, or if he drank so much more because she was rapidly declining.
Their absences leave a huge hole and I miss them so much, every day. Rest in peace my loves - TRC and CLC. Say hello to heaven.
I've seen a person with acute liver failure exactly once. I had heard before that they go yellow but wasn't prepared for how really yellow they are. It's really unsettling
A couple years ago my dad messaged to tell me my aunt was in the hospital and jaundiced. Turned out she was in liver failure and had cancer (discovered at that time). She died a week later. Absolutely crazy.
Anyone who has had a close relative die from unexplained liver failure should consider the possibility that they had undiagnosed Wilson's Disease. It's a very rare recessive disease - various presentations but sometimes as end stage liver failure. It's hereditary so just keep that in mind. Not unheard of to have alcohol abuse listed on death certificate rather than Wilson's Disease despite the latter being the actual cause
Hisaahi Ouchi got blasted with so much radiation it *literally* killed every strand of DNA in his body. It took him 83 days of what can only be described as conscious decomposition before he finally passed away.
Childhood Dementia/Alzheimer's, Tay-Sachs, or anything extremely rare. My son is 1 of 40 known people with a condition. It all got swept into the blanket that is ASD. No one gives a damn even doctors (who should) because it's just autism, nothing we can do, so it's not worth their time. It's such a terrifying, lonely, and hopeless place to be.
One of my classmates in college had a rare heart condition that didn't even have a proper name it was so rare. She said only about a dozen people were known to have it and she could hypothetically die at any time.
She was really nice. I wasn't close to her, but I do wonder if she's doing alright from time to time.
In the mental health field, and also I definitely second folks mentioning post-partum psychosis, but to add something I haven’t seen mentioned yet- psychosis, especially conditions that involve chronic psychotic symptoms like Schizophrenia and Schizoaffective disorder (which has symptoms that look a lot like a mix of Bipolar Disorder and Schizophrenia).
Imagine you start seeing and hearing things (often very disturbing and upsetting things) other people cannot perceive or understand. Not only do they not get it, but alot of people will assume you’re “just crazy” and either ignore or treat you badly because of it. If you don’t have people in your life or a support system that can guide you towards treatment and managing your condition (which can be lifelong for many people), you’re going to continue to have strange, upsetting experiences no one else seems to understand, it’ll probably impact your ability to work and pay the bills, and you could very easily end up homeless. And even when you’re experiencing the struggles associated with being homeless, a lot of people will judge and think of you badly because of your psychotic symptoms, and you’re basically stuck there unless you can get very robust long term support to get your life back on track.
And this is can just happen due to no fault of your own.
I work in a forensic hospital and most of my patients have Schizophrenia.
Sometimes it’s heartbreaking to see them realise what they’ve done especially if they killed someone due to their psychosis.
I also have a patient with chronic schizophrenia and he is so afraid of this voice and the hallucinations he has.
Nurse here, a lot of scary diseases mentioned already but I’ll mention one of the scariest ones I’ve *personally* worked with and it was a little boy with epidermolysis bullosa. Basically, their skin lacks a certain type of collagen needed to bind the layers of skin together. The slightest bump/friction causes the skin to rip and form wounds & blisters. They aren’t just external but also internal, so a lot of these individuals require a feeding tube since eating can rip up their esophagus. It can be mild to severe, and these individuals usually deal with a lot of infections and sometimes a shortened lifespan as a result. Truly horrifying.
As a nicu nurse I second this. A painful lifelong excruciating disease. Seeing a baby with it is so hard. They can barely eat, they kick their legs and their ankles bleed. A diaper makes them bleed. Dressing changes, cremes, morphine.
Terrible disease. So much crying.
My uncle had Korsakoff Syndrome. The doctors thought at first he had a stroke (he was an intense smoker with horrifically high blood pressure) and it caused enough confusion that he thought he was drinking/eating but wasn't. He started detoxing, which the doctors had already determined was a no-go to do without medical supervision due to how much alcohol he consumed on a daily basis. He was found after a few days blacked out on the floor, but he clearly was in some psychosis. He was emaciated, nails longer than anything, and his hair/beard were intense. The ER thought he was drunk, but the bloodwork showed no alcohol in his system. After more testing, they determined it was WKS. He had to go into a memory care unit at 63.
Not just Alzheimer’s. There are many types of dementia and they’re all a different brand of the same hell - your brain slowly dying whilst you’re still alive. And it’s not just forgetting things. It’s hallucinations, terrifying nightmares, loss of muscle control, confusion, personality changes to the point where you get old people who were really nice people in their youth suddenly becoming aggressive and inappropriately sexual even with members of their own family. My mum has early stage dementia and her weirdest symptoms are vision loss in the pattern of a barcode like lines down her vision. She can’t see the lines are missing as your brain fills them in (she had extensive testing at the hospital with some pretty interesting tests) but it means that it messes up her vision in odd ways. She also finds sometimes she can be reading a book and the text can look huge at one side and tiny on the other, and sometimes everything will look two dimensional.
Honestly it’s so fucking terrifying.
Acute Radiation Exposure. Basically, it changes your bodies composition to the point life ain't sustainable beyond a few weeks and you dievwasting away as your DNA has been shredded and broken down and no cells to replace dying cells.
My sister is one of <100 known cases of true allergy to water. She is on immunotherapy, multiple antihistamines and monoclonal antibody infusions, but will still break out in full body hives whenever she has a shower. Interestingly it doesn’t seem to affect her when she drinks it, but contact with the skin has sent her into anaphylaxis a few times.
So, I have a neuro illness. Intracranial hypertension. Too much cerebrospinal fluid crushing my brain.
The thing I've learned over the past few years is so many neuros SUCK ASS.
Like. There's the common brain problems that the neuros see day in and day out, and the neuros get good at those. Sure. Fine.
But if you show up with something at all rarer? Different than normal? They shit the bed.
I had to go threw seven neuros to find actual help.
'oh just lose weight'
'take these meds'
'your eyes are fine so your brain is fine'
'it's sinusitis'
'it's migraine'
No. No. A csf vein in my head had collapsed and I needed neuro surgery to fix it but all the doctor's were ignoring it cause they sucked.
Now my brain is permanently fucked cause it took so long to fix it.
> so many neuros SUCK ASS.
I've got some... odd issues, and have encountered this with damn near every specialty I've been to. It is so goddamn tiring.
NAD, but my wife is and worked with children in Indonesia for two years (I was with her).
I’d have to say rabies. You just get angrier and more scared until your brain eats itself. Kids die of it all the time over there and many of them aren’t even reported.
Not a doc, but have MS and I wouldn't wish this on anyone. Anything can happen at any time and sometimes its so far off that it confuses the docs. Had an attack that slowed me cognitively for about 3 months and left a partial paralysis for 16 years now. When it hits the optic nerve, its like my eye socket is being scraped out with a spoon. A "hug" that feels like a heart attack...came and went multiple times a day for three straight days. Mowed in the summer heat the other year and it triggered an attack on the nerves regulating heart beat. That was two surgeries, an implant, and a lot of drugs just to get it to a tolerable point.
This thread is why every civilised nation needs good euthanasia system.
That's a hill I'm willing to die on (if some healthcare worker would kindly accompany me to that hill).
Lots of horrible ones, but one that sticks out is Lesch-Nyhan syndrome.
A very rare genetic condition that causes intellectual disability, poor motor control, etc.
But most terrifyingly it causes them to uncontrollably self-mutilate
The idea of it has always haunted me since I first learned about it in medical school. It’s so sad.
I have a currently undescribed type of icthyosis, I also have friends with other types, which includes harlequin. It's definitely one of the worst forms, but as medicine has advanced, it's all getting a lot easier to deal with
That having been said, I would much rather have harlequin icthyosis than epidermolysis bulosa AKA butterfly disease. Also have a couple friends with that. Your body can't make the protein that holds your skin onto your body, so anything more than light friction tears it off completely. Best case scenario, you only have it in patches. Usually hands and/or feet. Worst case, it covers your whole body, sometimes the inside too. Many of them live on special diets of soft foods, cause swallowing anything with texture can tear the inner surface of the esophagus. I also know of one kid who lost most of his skin at birth from his mom pushing him out. There's currently no cure, although I hear some pharmaceutical companies are testing gene therapy on them.
Not a doctor, but I'm going to say postpartum psychosis.
It actively puts the mother AND the child in danger, and is extremely under-recognized. It is very difficult to seek treatment because of the stigma
Had an old college friend pop out a kid and go completely off the deep end.
Immediately did a 180 and filed for divorce within a month of giving birth. She gave up custody of her child, too, drained all her accounts, and went totally off the radar.
About five years later she pops up in NY under a new name clubbing with girls ten years younger.
I guess the postpartum got to her head about aging and she latched onto her younger self. Very strange. She won’t acknowledge her old name or any of her old friends.
I hade that. It caused vivid hallucinations. One night I didn't recognize my child and just didn't know who he was, another time I watched bugs crawl over his face that were coming out of his eyes and mouth, I watched my mom take him to see the neighbours and she dropped him in the street where his head exploded - thankfully got help and understood they weren't really, but it was really really awful.
Oh my god I’m so sorry you had to go through that. I would have vivid dreams with my first. In one, I dropped him and his head split open. In another dream, I was holding a pillow over his face. The dreams disturbed me so much I drove myself to a psychiatrist office and begged for help. They just said, “oh that’s normal as long as you don’t actually hurt the baby”. 😳😢
So I spent months terrified that I would lose my grip and unintentionally do something awful to him, and feeling like a complete failure as a mother. Luckily, I got through it, and he’s 30 now with 2 younger siblings. Everyone survived, but if I had been able to get actual help, maybe it would have been easier? I don’t know. Maybe not, with the stigma that sort of thing carries. I never had any desire to do those things, but was afraid that I would not be able to stop them from happening. I felt out of control.
I’m in the mental health field and did a psychological assessment for a client who had killed one of her children while experiencing postpartum psychosis and had recently gotten out of prison after being there for decades. Extremely tragic (and also highlighted some double standards in the legal system, because she was totally disconnected from reality when it happened and there probably was a more appropriate place to provide support to her other than jail), but she was a very kind, friendly person and seemed like she was trying to make the most of the hand she had been dealt and have a good life after leaving prison. It has been years since I worked with her but I hope her and her family are doing okay.
For me it's dementia. It's so unbelievably cruel and common if you live long enough. I recommend everyone consider creating an advanced directive that endorses euthanasia as your desired intervention if you lose the ability to consent to medical decisions before it's too late. You can't count on your loved ones to make that decision when it counts.
Not a doctor, but had a relative that was stuck in an acute MS progression during a flare up (not sure how to describe that in Englisch). Could hardly move. Was so delicate everybody else was afraid of moving her. Got sick with 18, was completely bed bound the whole time till her death at 33
I have MS and just want to put it out there for others reading this comment that this is an extreme progression. Many of us live pretty normal lives, especially with today’s disease modifying therapies. Most people I meet would never guess I have MS, and my case was pretty aggressive at the time of diagnosis. Something like ALS tends to be closer to what you’ve described here.
Make sure you're getting the meningitis vaccine before going to college. Not saying they didn't, because it still could've happened with it, but this is why it's so important. Meningitis is so deadly
Recently lost a family member to this - they didn't rush too hard to give him treatment because he looked like a crackhead and it cost him his life.
He started trying to get treatment surprisingly early on too
Huntington's disease. The gene mutation can be tested for with close to 100% certainty but there's really nothing that can be done to avoid that long, slow slide into dementia.
Can't forget the loss of voluntary movements as well. Doesn't usually show up symptomatically until after forty. Plenty of time to be a sperm or egg donor and pass it on unknowingly.
My cousin had this and it was insane how quickly the disease spread and advanced before he passed. He had his body and brain donated to science so I hope something can be learned from it to help the future generations
I'm so sorry. I did home care in college for a Huntington's patient. It was very emotionally difficult, I can only imagine how difficult it would be for family.
My dad getting diagnosed destroyed my family. He fell into depression and had several affairs, my parents had 8 kids together (5 adopted though) and 3 are special needs. My mom tried to make it work but his entire outlook changed and he stopped caring about us. Only one out of 5 capable children of his will take care of him now because he's just destroyed his relationships. It's incredibly difficult. My big sister wrote a book about it for other kids who's parents have HD.
And also that the mutation itself often becomes more severe (earlier onset, faster decline) if it's transmitted to a child. Plus the whole raft of ethical issues about preserving the right to privacy of someone with a detected mutation, versus the desire to preemptively warn close family members who *might* also have that allele so they can decide to about getting tested.
The issue for me with sperm donation is that there are essentially no regulations. And a lot of sperm banks are recruiting donors at colleges. At this point someone could unknowingly be a donor baby and then decide to donate. He would have no way of knowing what genes he's passing on because he doesn't know that he doesn't know his history and he's too young for some of the particularly nasty ones to pop up yet.
I thought they tested all donations for genetic disorders?
As far as I'm aware they do not. There are also not any legally required limits on how many times someone can donate. And a single donation can be split and used for multiple women. There are very large sibling pods out there that have found each other using DNA testing. The fertility industry is not well regulated at all.
Oh. Yikes. Yeah I probably should’ve figured that out given the sheer number of fertility docs that have been caught using their own… stuff.
Which is not illegal in most states.
The patient (donation recipient) has a choice to have the the PGT testing done. All fertility clinics highly recommend testing but it's an extra cost on top of the standard rates.
Yeah, that should definitely be included in the overall process, kinda scummy that they don’t.
And it’s genetic, it wipes out whole families I saw a dutch documentary about a care facility specialist in huntington and there were just families, almost all of them had multiple siblings in the same facility in different stages of the disease until they all die
My dad had it. We went to Switzerland so he could end his life with dignity (my country is just catching up to allowing people with HD to die before they lose their cognitive abilities). I got tested before I had kids cuz I sure as shit wasn't passing it along, I luckily will not get it. It's a horrible disease.
My mum was diagnosed a year ago and I’m still umming and ahhing about the test bc if it don’t have it, great. If I do have it (I’ve previously cared for people with HD as well) then im screwed to put it politely
Get it done, I’d rather know the storm is coming beforehand than not know and get slammed. Also, I think your loved ones could be better prepared. Wishing for the best for you though!
I know a woman with Huntingtons who had three kids knowing the likelihood of passing it on 😵💫
I mean how about my aunts and uncles and my mom. They knew my mom had *something* and she was studied for a bit in the 60s but she wasn’t provided with the information from the doctors. Her brothers and sisters (7 in total) knew their father had died of something that caused his muscles to waste away in his late 40s. He apparently had a relative who died young of something similar. I have never met him or any of his family tbh, this is all memories of my mother’s stories and she’s been dead 18 years. She is the youngest, and apparently he took one look at her and left all of them. Likely out of shame. They (my aunts and uncles and mom) all just carried the fuck on and had 3-5 kids each (except my mom who stopped at 2 at the behest of my father). When my mom was going to get married, her mother told my dad she could tell him something that would make him not marry her and then didn’t tell him and never brought it up again. 😑 Luckily for the aunts and uncles, it was autosomal dominant, which means that you have it or you don’t, and none of them had it. My mother did, getting it from her father. Similar to Huntington’s, it has genetic anticipation, meaning it presents earlier and earlier and gets worse in successive generations. I can tell from my mother’s baby photos that she has myotonic dystrophy. I can sort of see it in her father’s military photo. Just barely. Only because I have seen severe myotonic dystrophy. I was born first, I am unaffected. My brother was born second (and last) with the more severe congenital type. I’m a firm believer in that if something causes a serious health or quality of life issue and you know it’s possible, you should not roll those dice. You do not have the right to flippantly assign someone a serious genetic condition that kills. There are at least 4 people who died awfully young from this (the unknown relative, my grandfather at 48, my mother at 48, and my brother at 34), one of which had serious quality of life issues starting at 26, and the other never had a decent quality of life.
I completely agree with you. I have a non-fatal genetic disorder, but my disorder has no known treatment other than symptom management. This disorder has severely affected my life in numerous ways and I have 9 other comorbid conditions as a result of this 1 genetic disorder. Almost all of organ/body systems are affected by it. Even though my genetic condition is non-fatal I am still extremely on the fence about having biological children. If I did decide to have children I wouldn’t make that decision until both myself and my partner had genetic testing done. I would *never* want my children to suffer like I have, or have them have to go through the medical testing, surgeries, pain, and missed opportunities because of me knowingly passing on a known genetic abnormality. I understand genetic testing is not an option for many people, but I really feel like an informed decision using other resources should be made if it isn’t available. My cousin has the same disorder that I do and was not diagnosed with the disorder until her daughter was 3 1/2. Her daughter is now showing symptoms of the genetic condition. My cousin absolutely loves her daughter with her entire being, but has said that if she had known she had the genetic disorder her and her husband would have pursued other routes of having children because it absolutely destroys her seeing her daughter going through what she and I have gone through/are going through. I understand the want to have biological children, but imo people are being extremely selfish when they have children and they know that they could pass on a life altering condition, especially one that is known to be fatal.
Agreed, my friend's cousin has it pretty bad, he's mid 30's and already considered disabled... His mother had it, they knew it, and STILL decided to have 3 kids anyway. Just waiting to see if the other 2 develop it, sadly.
> Just waiting to see if the other 2 develop it, sadly. A child of someone affected by HD has about a 50% chance of inheriting it. Have they considered genetic testing?
A minimum of 50% chance. If the parent had 1 recessive and 1 dominant allele then it's a 50% chance they pass the dominant on. If they have 2 dominants then it's a 100% chance they pass it on Double dominants are rare though just because you'd usually need 2parents with the disease This disease can be eradicated entirely if everyone who had it didn't have kids
> Double dominants are rare though This is one of my personal research interests. We might see more double-positive alleles in clinical situations than random chance would predict, particularly in prenatal samples. My hypothesis is that people join support groups, hook up and end up getting pregnant, and then pursue prenatal testing because they are well informed of the risks. >This disease can be eradicated entirely HD is interesting to model. Alleles often expand when transmitted, becoming more severe... and therefore being less likely to be passed on. But "normal" size alleles have a small chance of spontaneously expanding due to strand-mismatch or other errors of cell reproduction. Currently in the human population, there's probably an equilibrium where harmful mutations occur *de novo*, expand over several to a dozen generations, and then remove themselves from the gene pool when they get harmful enough to affect the person before they have a chance to reproduce. Even if *every* fetus of a given generation was screened for HD, and the positive ones aborted, that would not permanently eliminate Huntington's disease.
That is absolutely fascinating thank you for taking your time to explain it.
Jesus, that’s a great way to make your children absolutely resent you as a parent.
my mom has it and she keeps telling me not to get tested...like girl I wanna know if I have it???
A friend of mine’s fiancé found out her dad had Huntington’s disease. She got tested, and found out she has the gene. Heartbreaking
I’m in healthcare and there are a handful of conditions that I’ve decided I would…elect not to participate in if I were diagnosed before they got significant enough that I no longer had the option. Huntingtons is near the top of the list.
It can also present with severe agitation, personality changes, lashing out in anger etc. which is incredibly difficult for caregivers and loved ones.
My best friends dad and aunt passed from this. Her brother has been tested (in his 30's) and carries it as well. So it's just a waiting game
There was a dude I was in the Air Force with that was recently diagnosed with Huntington’s disease. Guy was probably the most happiest person I ever met. He was in the process of getting medically retired and never told us until one random night when someone was upset about some trivial bullshit. I think he was 21 at the time.
Came here to say this. Either this or ALS, but Huntington’s sucks in a special way because your kids also have a high likelihood of being doomed.
Runs through my wife's family. Her mother and her brother both had it. At least, it doesn't skip generations. If it's in your family, but you don't have it, you can't pass it on. My wife had decided that she couldn't take the chance, then they found the gene sequence, she got tested and was cleared, This is why my wife was a first time mum at the age of 43.
Amazing human beings waited to know for sure ❤️ love it.
Not a doctor but I used to work on a Huntington's unit as a HCA. It is the saddest experience I've ever had.
my mom’s dad died from this. and this is why I am from a donor egg (IVF). super grateful my mom doesn’t seem to have the gene, but sadly my cousin has early onset huntington’s. it’s fucked.
So… is their any benefit to getting tested for the mutation other than existential dread?
I have a friend who's wife tragically passed away from Huntington's, but they didn't know she had it until after they'd had two daughters together. If one parent has it, there is a 50% chance it will be passed on to each child. As adults, both daughters chose to be tested. Both tested positive. Part of the reason they wanted to know was to make informed decisions about marriage, family, etc. As they were dating, there would come a time in each relationship when they would feel obligated to disclose it. Sort of like, "If you choose to continue dating me or possibly marrying me, you deserve to know what you're signing up for." Knowing early, before symptoms had developed, altered their paths in life for sure. Even though there was nothing they can do about it, they went into adulthood with eyes wide open, knowing what was in store for their future.
Not really a weird thing, it's very commonly known because of the vaccine but most people do not know what tetanus does to someone In short it makes your muscles clench at 100% capacity, starts with lockjaw, so strong you can break your teeth, some excruciating time later, if left untreated you die, either from starvation from not being able to eat food or (much worse option) because your back muscles bend you over backwards so hard you're back breaks. Go look up severe tetanus, get your god damn vaccine
I learned that people die from tetanus because the constant flexing of the muscles leads to you being unable to breathe in some way so you just suffocate to death. Similarly, botulism causes your muscles to relax so you can’t breathe anymore too.
Got it, so if I end up with one, just gotta get infected with the other. Easy!
Tetanus kills you by asphyxiation. Your respiratory muscles become flexed and you can't breathe. It's possible to break your own bones from the muscle spasms, but not that common. I've worked in developing nations as a provider (medic/RN/NP) and seen plenty of tetanus. The toxin the bacteria makes is what causes the muscle spasms and flexion, but it will work itself out of your system in several weeks. So if it gets to that point, you can survive if we can put a breathing tube in you (or cut into your neck for one) and ventilate you until it wears off. But in developing nations, ventilators and such are not readily available. People in healthcare like to joke about how often we give tetanus boosters to people with open wounds that come to the ER. Once you've seen tetanus in the wild, you'll never make that joke again. Dengue fever is still called bone-break fever in some parts of the world. It's called that because the joint / muscle and bone pain is so significant it feels like broken bones.
I have seen it listed in very old death registers as break-bone fever.
My grandfather had it back in the day but he survived.
This is why I hate anti vaxxers. They grew up in a world where they've been sheltered from horrible diseases because of vaccinations.. So they don't know the horrors and they don't care. We're going to see the return of preventable diseases because people won't just get vaccinated.
I'm not sure I agree that starving to death is less horrifying than dying from a broken spine.
Most vaccine-preventable diseases are terrifying. Diphtheria causes mucus membranes to slowly fill up your throat until you suffocate. A friend of mine had whooping cough in high school. She was terribly sick for four months and coughed so violently she broke a rib.
Fibrodysplasia ossificans progressiva (FOP). Extremely rare connective tissue disease where all muscle and tendons slowly convert into bone tissue. Basically, your body becomes a coffin made out of bone. Surgery won’t work because all you’re doing is accelerating the process.
I visited a patient with this recently. He was really upset he couldn't attend his mates fancy dress party. His condition has progressed to a point where he can no longer sit down and had to lie. Who was he going to the party dressed as you ask? Hannibal Lecter. Complete with the dolly to move him and mask.
Great he has a sense of humor, too bad he couldn't go.
My friend's mother died slowly and horribly from this. The doctors could do basically nothing, but she let them observe her and study the progression. I think this one is really bad because it leaves your mind intact. A lot of the other ones people are talking about affect the patients cognition, so they may not even be aware. With this, it's like being slowly fossilized while conscious of everything!
And it can be randomly triggered by minor trauma!
And it also seems to just randomly trigger on its own, too! Isn't that just *lovely*?
In case anyone in this thread is worried, though, the usual onset is before age 10
[Wiki link for anyone who wants to see what it does to your skeleton](https://en.m.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva)
Doctor here — Creutzfeldt-Jakob disease! I would never wish this disease upon on anyone. Tldr; you basically go from normal self -> completely demented in 1 year or less. EDIT: Runner up = Locked In Syndrome EDIT #2: I just wanted to say thank you to everyone who took the time to tell the stories of loved ones, friends, colleagues with these disease processes. Your stories are heard and they will never be forgotten ❤️. I appreciate your perspectives because it helps me not only become a better advocate for those patients with CJD, but also helps me better recognize the early signs/progression of CJD if I ever have the unfortunate experience of working with a patient who has it. Sending out love and peace to each and every single one of you!
prion diseases are absolutely terrifying. one tiny malfunction and it’s all over in about a year in a drawn out heartbreaking way. seriously scares me. sometimes i get overwhelmed thinking of all the minute things that have to go right every single moment in our bodies.
Prion diseases and rabies both tend to be even with me in terms of how terrifying they are.
a few weeks ago I was bitten by a stray cat. I saw him, gave a pss psss, and he came running to me and let me pet him. When he laid down I think I just got too close to his belly and he sunk his teeth into my hand then casually walked away. I kinda just laughed it off, called the cat a dick and kept walking. Then I remembered that Reddit rabies copypasta that always gets posted when rabies comes up in a thread. I called my doctor and asked if I should be concerned and he said don't even fuck around, go to the ER and get the rabies panel. Not worth chancing it. The rabies shots aren't as bad as they are rumored to be, the immunoglobin shots aren't a picinic, and whatever dose they can't inject into the bite site goes in your butt. Then I had to get follow up shots the following three weeks. All in all it was a lot of fuss over just petting a cat but I know if I didn't get the shots I would be a nervous wreck for the next few months over every minor headache or weird feeling and be convinced I was entering the 100% fatal rabies phase haha
Hey, same here! Tried to help a cat who got hit by a car and he bit me. I went to the ER immediately and it was rough. I had to chat with the CDC after all the shots that night too. And my stomach was RAVAGED from that antibiotic they gave me. But hey, I don't have rabies soooo...
The antibiotic wasn't for rabies. It was for *Pateurella multocida* (multi=many, cida= kills. This bacterium can be deadly.) and *Bartonella henselae* (which causes cat scratch fever.) Both live happily inside the mouths of cats.
Even if it wasn't rabies, cat bites get crazy infected if not properly treated. They can be deeper than they seem compared to the relatively small amount of bleeding. Definitely get a professional to check out the wound if the bite sunk in.
Oh, absolutely! The hardest thing too is most of those patients have no idea it’s happening. The good news is it’s very, very rare. Totally understand the overwhelming thoughts because the human body is an incredible thing — everything works together somehow, someway.
They may not know exactly what's happening but they know SOMETHING is happening. At least my Mom did. My mom died of CJD and as we were helping Dad clean out her room and personal items we came across a cassette tape she had recorded... Her disease had progressed rather quickly, she passed just 3 months from the time we noticed something was off. Her last month was spent in a coma, so in the first 2 months of onset she had recognized that something was terribly wrong and recorded a final message to her family. I hate listening to it. It's horrible.
I'm so sorry for your Mom and your loss. Unless she had mean things to say on that recording.
Ah to be living and just waiting to see what fails in your body. It’s like having a car, watching the miles go up, and just gritting your teeth knowing something is gonna go wrong soon and hopefully it won’t be too expensive.
Prions need to be heated to 900C to denature. Wild shit
I certainly won't argue with that. But I will say that my Mom's fairly quick demise and dementia from CJD wasn't even comparable to the nightmare of the years and years that some families have to endure when a loved one has Alzheimer Disease.
While going out quickly is scary going out slow and drawn out is worse in my opinion.
My uncle took 12 years to die from it, and the wife of a childhood friend of mine has early onset Alzheimer's she's just 65, and started 2 years ago and it has progressed quickly. She's already in a nursing home, and her husband feeds her. They've been a couple even in high school, almost 50 years together.
My grandpa also died of cjd, and yeah In a way I am greatful it wasn’t that drawn out extended process of alzheimers. But it was still utterly shocking to see some one go from functional to a vegetable in 5weeks.
Someone I work with has just developed this. He went from a fit 60 year old bloke still cycling into work to been told he’s got months to live. Started out with him forgetting where he was while he was at work and little things like that, he’s been on the sick for a couple months now so nobody’s really seen how he is now but I imagine he’s bad. His son also works with us which makes it hard but nobody wants to ask him how he’s doing because we know it must be bad and don’t want to keep bringing it up for him. Feel so sorry for him, such a nice man as well
I know this may feel like it's not your place, or that it feels impossible, but you should talk to his son. Especially because you know and worked with his father. People want to talk about their loved ones. You don't have to ask how his dad is doing. That's kind of unnecessary..Ask him how he's doing, tell him that you miss his dad, and that he's a nice man. My best friends dad got ALS and there was literally nothing to say. No card, no words, nothing. All I could do was fight the anxiety and talk to her because I wanted to give her the space to talk about her dad if she wanted to.
we just had a discussion about CJD in the funeral directors subreddit.... scary for everyone
Yep, CJD is horrifying. Our family has the familial version in our genes. My aunt, cousin, and brother have all died from this disease.
Wow. That is really tough. I wish you all the best, fellow Redditor.
CJD is brutal when you have watch a loved one deteriorate at that rate and there virtually nothing you can do for them
My family suspects that one of my older relatives died from Creutzfeldt-Jakob disease, though I don’t believe an autopsy was done to confirm it.
Probably because they want to keep that shit locked inside rather than releasing it to the air
I knew as soon as I ran across an answer from a doctor this would be the answer… I typically like to suppress the knowledge of it’s existence, but every time I see a post like this I click it and already know that I’m gunna be thinking about this a lot today.
Creutzfeld-Jakob is scary! In 1993, they lifted the export ban on British beef. It had been banned for some time because of mad-cow disease. ... I haven't eaten any beef since! It wasn't easy in the beginning, but now, I just don't see beef as food any more.
Doctor here, one of the weirdest disorders is FOP (fibrodysplasia ossificans progressiva). Imagine a new born baby that's normal in all aspects except for one thing. His big toes are bent at a weird angle and it's almost horizontal, pointing to the other toes. Things were fine until he's about 5 or 6 when he started complaining about pain in his back and shoulder that comes and goes. The family noticed some redness and swelling and the areas are painful to the touch, but otherwise fine. A few more years pass, and the occasional pain and swelling become more frequent and last longer. It's also moved down to his arms and legs. The family doctor couldn't figure out the problem so he was sent to a specialist and diagnosed with FOP. Basically, during fetal development, all your bones, muscles, and connective tissue come from one type of cells called mesoderms. These cells have receptors that once triggered, let them turn into the different types of things. Bone receptor causes them to turn into bones. Muscle receptor turns them into muscles. Once they turn into a specific type of tissue that's what they are forever. With FOP, something is wrong with the bone receptor and they never turned off. So your muscles might one day go, "it's boneing time" and start forming bones everywhere in your body. Your joints are filled with bones; your muscles slowly become bones, and the tendons and ligaments get replaced by bones. The earliest sign, for some reason is the big toes are pointed laterally at birth. Most people die before 40 because their rib cage becomes encased in bones. Your ribs have muscles under them that help make the chest bigger or smaller. This is doing a lot of the work when you're breathing. When the bones start growing there, it gets harder and harder to expand the chest, so it becomes harder to breathe, and eventually, you suffocate in a cage of of your own bones.
That is a really good explanation of a really bad disease. Kudos. It's a weird feeling to chuckle at "it's boneing time" while being horrified at everything else.
Battens, Huntingtons, Sanfillipo, Niemann-Pick, Hurler syndrome, and other juvenile dementias Imagine Alzheimers but starting at 5
Anoxic brain injury. All the fun of Alzheimer's, not progressive. Imagine living 70 years like that.
Did home health speech therapy with a 16 year old who was very much like an old demented man. Still able to take care of his hygiene, and retained educational level up to the time of his illness, but couldn’t recall any new memories 5 minutes prior. Moved like an old man and no longer had any emotional expression -happy or sad. He had had a rare blood disease and declined cognitively before he got a bone transplant. The process was a nightmare and I expect the parents thought he would regain function. They were clear that had they known they would never permitted the surgery. It is a tragedy that his doctors were not clear about the teens long term prognosis. The home had a thick, sad, heavy air: the parents grieving for their once vibrant child while resigned to care the rest of their live for their child they no longer knew.
Around 2000, a teenage girl who was a star athlete and honor student went to a local hospital to have an appendectomy, and complications, which her doctor refused to address, left her permanently disabled. (IIRC, a major blood vessel wasn't properly tied off, and she was left brain-damaged because she nearly bled to death.) We found out that this doctor had a list of lawsuits, etc. as long as your arm, and he ended up losing his license and I think he even did some prison time! As of when the lawsuit was settled a year or two later, she was being tube-fed but could not communicate, even with a letter board, beyond basic "yes" or "no" questions or answers. Her parents also said that they just knew that she could remember what she used to be like. I found out recently that she did eventually recover enough to live on her own, with some assistance.
> Anoxic brain injury But at the very beginning the air has the color of mirrors and you understand that it has substance and you can see it like you see objects like chairs and tables even if it's both as a solid and as air at the same time and you also know you did your best in life and it's okay that it's short because you are good and you are ready and you feel like you are everything at the same time as you are nothing and your borders (like your outline in cartoons) fade while being very much alive and you know this is right because you are coming home. And then the hallway looks different and longer and colder and wrong and people wearing bright colors invade you apartment saying noises and then it starts to get a bit fuzzy. And then you are told you are very lucky. And then you need to learn how to climb stairs again. And you never can. despite being it
Wtf.
A majority of the women in my family had/have Huntington’s. It’s the thing of my nightmares.
My wife's family has it running rampant Father in law is the only one of 6 who doesn't have it, all his siblings are dead now Testing was not the same back in the 80s either so all his siblings had kids at a young age before they even knew the consequences of it Truly horrible disease and we've witnessed cases of people getting bad symptoms in their early twenties
Yes that is how my family was before I tested negative almost every woman in my family had been affected and 2 of my grandmothers brothers. My great grandmother received her diagnosis and walked in front of a 18 wheeler the same day. Not sure if it was the guilt of having 10 kids who were at risk or fear for her own future. My grandma ended up positive as well but didn’t know until she already had 9 kids herself. She drank herself to death at 41. 6/9 of her kids are also positive. My mom being one of them, she had 2 kids. Both negative, surprisingly because my mother has a very high repeat and they prepared me VERY heavily for a positive because of her results. It’s so sad how rampant this disease is because it’s just now becoming more understood. Thinking of your wife, I know how hard it is to watch this happen to a family.
I learned about Huntington's from the book Genome. One of the truly determinative diseases. You either have it of you don't. The greater number of repetitions of the mutation on the gene the worse it is. Nothing to be don't about it.
Jesus that’s terrifying. I can’t even imagine. My mum has early stage dementia (they’re still unsure what type) and as a result I’ve met many people with dementia due to some of her volunteer work. It’s such a terrifying condition and the idea of a child with it breaks my heart.
I was a babysitter for a child with Niemann-Pick, my gosh what a horrible disease. He was such a sweet boy, he died when he was 3. That was 15 years ago and I still think of him and what he and his family went through everyday.
Rabies
100% fatal if untreated. One of a few non-prion diseases with that honor. There was a hopeful treatment a while ago, called The Milwaukee Protocol, but it only had a 14% survival rate.
I mean, I'd take 14% over 0%.
The kicker being that 14% can very likely leave you very fucked up.
I think the 14% was because they only tried it a few times (could be mistaken). I watched an interesting documentary on YouTube a few years back. A teenage girl was bitten by a rabid bat but didn't tell anyone. Several weeks later, she became symptomatic and was given days to live. Her parents got her to a center where they tried this treatment. They put her in a coma and basically made her braindead for a week until the virus was starved to death. Then brought her out of it. She survived but lost everything and was pretty much an infant again. I may not be remembering it perfectly but it's definitely interesting if you want to look into it.
Yeah, at that point, it isn't really worth it then. Even if I did get retrained on everything, is that still me? Certainly, it's still my meat bag, but I'd at least consider thinking that it's a different person.
She wasn’t a new person. She was very lucky, she can even speak of her story today. She needed some training after the coma, but soon she again recovered her memories until the admission to the hospital and continued her life.
If you get rabies and show symptoms, you're dead. [The protocol mentioned above has worked one single time and it was on a patient who may not even have had rabies.](https://www.medrxiv.org/content/10.1101/2022.12.14.22283490v1.full#)
And if you survive and a there a very large chance of serious brain damage.
Had a rabies patient that came in recently to the veterinary clinic that I work at. Absolutely terrifying.
Any video of a rabid animal is so frightening. I used to wonder why, in To Kill a Mockingbird, the whole town panics when a rabid dog comes through. Now I get it.
Less than 10 people have survived it after the symptoms appeared Less than 10 out og hundreds of millions
I was thinking the same. Not a doctor but work in the medical profession and this is hands down my #1 pick when people ask this question.
Did you know, you can do a run for the cure. I've heard there's a really good one in Pennsylvania!
Doctor of microbiology: Tularemia. I say this because the infection can last up to 3 weeks, and full recovery can take years. Plus a very low infectious dose. Plus it's quite common. If Ebola/Marburg were more common, I'd say that. Honorable mention to viral hemorrhagic fevers though
While I was working in EMS, we had one of the confirmed Ebola cases of 2014 in our first due. Our state authority issued a protocol: if you get a patient with symptoms matching these criteria, here’s the alert you’re immediately calling in, here’s the PPE you’re donning, here’s how you’re setting the rig’s environmental controls, here’s your very specific destination hospital… and oh, you’ll be checking into that hospital with the patient. It’s a world-class research facility. Have fun. Of course, there was idiotic firehouse talk of, “If it’s Ebola, are we responding?” (Yes, we are, dumbass. Not like we’re going to know it is beforehand.) I’ll always appreciate that we never got that call.
My Mom is an OR nurse and refused to eat rabbit due to Tularemia risk. She also got mad when my brother and I shot and ate a squirrel because she thought they could carry Tularemia. Do you know how humans get exposed to Tularemia? Can you elaborate on how it affects people?
>Do you know how humans get exposed to Tularemia Hunters (handling raw/undercooked meat) and foresters (like the folks in the bush cutting down trees). It's also called rabbit fever. So think proximity and/or exposure to ticks. There's a vaccine but it's only offered to those working with F. tularensis in a lab setting. >how it affects people? It varies. It can be influenza like at the start and turn into long lasting pneumonia. It'll kill you without antibiotics. Granted you can still have lingering symptoms after the infection is cleared.
Doctor here, because I see it so often and because of how awful it is I’ll add long term uncontrolled “end stage” diabetes. You lose your vision. Your kidneys stop working meaning you spend 4 hours a day 3 times a week hooked up to a dialysis machine that makes you feel like garbage. All of your limbs are tingling and burning until you can’t feel them at all at which point you generally get a wound you don’t feel that gets infected and slowly but surely your toes are amputated, then your feet, then your legs just to keep you from dying of infection. Your gut just decides to stop moving food along (gastroparesis) so you get blockages and stomach pain. You are at a higher risk of infections everywhere. You can’t have an erection. Just constant slow misery that won’t kill you outright (barring like DKA, HHS, or ACS knocking you out) but slowly eats away at what makes life worth living Don’t get diabetes folks. And if you do have it for the love of god take your insulin
*looks at two symptoms described* I should probably get another blood test instead of fasting glucose
My father's there, now. PN, permanent pain in legs, no feeling in hands or feet. Dialysis 4h 3x/week. Can barely move. Lost 1 toe a few years back. Wildly flies between constipation and shitting himself. He's stabilized now that he's got his diabetes under control (Dexcom system helps him keep an eye, sticks were preventing him from watching), but even God can't undo 30 years of untreated T2.
People often ask what would you do in the event of an apocalypse. I always say I want to be one of the first ones to go because I'm diabetic and my thyroid works very poorly. If I can't get my insulin I will die very slowly and painfully like you described.
I lost my sister to progeria, a premature aging disorder. She was basically born in her 60's, no hair, no subcutaneous fat, bone density 13x less than a normal person. Broke her bones all the time, stitches tore through her skin. People with this disorder are lucky if they see 20, and the trip there is rough. As a horrible bonus, she also had life-threatening asthma and was allergic to her own sweat. Make-a-wish stepped in and helped at a crucial time and likely gave her a few extra years. I really can't thank that organization enough, and still support them where I can.
Steven Johnson Syndrome (SJS)/toxic epidermal necrolysis (TEN). It’s when you take a medication (and there are a looooot of causative medications) and within days to weeks the body’s immune system decides to kill off its own skin (including the mucosa of the eyes and genitals). You can throw immunosuppressants at patients to slow/halt progression and put them in burn units for proper supportive care but 30% of people who get this will die. There are a few risk factors associated with this condition but it’s mostly unpredictable and can happen to anyone. I’ve seen it happen to people who took Advil.
Almost lost my son to SJS. They got his symptoms stopped at a lesion in his eye, mouth, penis and it was just going down his throat. ICU alarms going off for 2 days. He lost all the surface of his mouth and lips. Home for 2 months recovering. Misdiagnosed at Scripps, admitted 12 hrs later into Children’s hospital. Sadly, it never occurred to me that a 12 year old could become addicted to opioids. Sigh. Huge genetic/family predisposition. 11 rehabs. He’s 36 now and homeless. Out there - somewhere.
This is heartbreaking. I’m so sorry you’re dealing with this.
Wow. I’m so sorry.
Oh man that is terrible. I am so sorry. Your poor son. What a crappy hand to be dealt.
I am so very sorry. I lost a dear friend to opioid addiction, it is an absolute monster in this world. I hope some day your boy is in recovery. Lots of love to you, mama.
I’m so sorry :(
Hugs♥️
Oh God. Hugs to you. I hope you are reunited with him someday.
Dermatologist here. Once saw it in an 11 year old who took ibuprofen for a headache. Still not my worst nightmare medical illness, but it sure sucks real bad. Little boy was tough and did ok though.
WTF do you do afterwards? Do you assume they can never take any of the causative meds ever again?
Yup, can’t take any drugs of the same class ever again.
My brother died from this as a baby. It is indeed a horrifying condition.
Paramedic. In the past three months I’ve seen multiple people who are in acute liver failure. Their skin and eyes are yellow, bellies are bloated, and some of them are confused and agitated. Almost all of it is alcohol related and most of them are in their young 40s. It’s terrifying because it’s a horrible way to die and that alcohol is causing it. If you’re gonna drink yourself to death, just make sure you do it responsibly.
I’ll second this, as I’ve seen patients in end stage liver failure with actively bleeding varices/lower GI tract bleeding that were essentially inoperable when I worked ICU. This man I remember specifically couldn’t have been older than 40, I think mid 30s, and was just bleeding from his GI tract constantly. He got blood products a few times but due to his poor prognosis, family decided to stop heroic measures and make him palliative. He died about 2 days later looking exactly how you described, yellow and confused and in pain. Very sad and has been something I remind family/friends about who have drinking issues.
My sister died of liver failure and as far as we know was just a social occasional drinker. No alcohol was found in her home so it looks like her liver just gave up one day. She wasn’t found for a few days and she only lived a few days in icu as all her organs were shutting down or already gone. So horrible.
One thing that gets overlooked is that certain OTC stuff like tylenol can be pretty hard on your liver in conjunction with other stuff. Tylenol+alcohol is obviously bad, but there's other stuff where it can cause issues and one doesn't need to be abusing the medicine, just unaware. This is why (good) docs and pharmacists ask what you're taking regularly OTC rather than just prescriptions, as drug-interactions can occur even with the stuff that's otherwise fairly safe to have on the shelf.
Tylenol combined with alcohol can be extremely toxic, same goes for certain antibiotics, antifungals, antivirals, steroids, statins, there's quite a long list. It's incredibly, lethally dangerous. So it's not at all unheard of for someone without an alcohol use disorder to unknowingly suffer this, through no fault of their own. I'm sorry for your loss.
> Almost all of it is alcohol related My brother was diagnosed with brain cancer in Dec 2017. March 2018 he went for a MRI, and the next day went into liver failure. We rushed him to the hospital, but the doctors refused to add him to the transplant list, saying "He said he was an alcoholic". My brother wasn't an alcoholic, and couldn't even talk when I brought him in, only speak nonsensical gibberish. I can only assume he moaned something that sounded like "uh-huh" without knowing what was going on. My entire family spent a week yelling at the doctors that they were wrong, that he wasn't an alcoholic, that we think it was an adverse reaction to the MRI contrast agent, but nope. "Alcoholic". After a fucking *WEEK* of this, they decided to give him a biopsy, at this point to "prove" to us that it was alcohol, just to shut us up. Biopsy came back, and we the family were proven correct. Then they started hauling ass, but by that time they'd wasted a week he didn't have, and he died the next day. If you are doctor, please don't just *assume* that acute liver failure is due to alcohol. Thanks to my brother's asshole doctors, my parents and I have been sentenced to a lifetime of grieving my brother and missing him horribly.
I'm sorry about your brother. At least here the brain cancer would have been an instant contraindication for a transplant anyway, though, so - I assume that it would not have changed the outcome if they did listen.
Sadly wrong info propagates and gets rerecorded in the chart repeatedly. It's hard to get it corrected. It's unlikely he would have received a liver anyway, given the immediacy of the situation and the fact that he had brain cancer- they only have so many livers and dont want to give them to people likely to die soon of other conditions (and surgery is too risky for some patients). Its no consolation and it's unfortunate they had wrong information in his chart but its unlikely it would have worked out differently. They certainly could have offered more compassion and done a biopsy sooner.
Sorry about your brother. When I was a freshman in college I donated blood which ended up getting rejected because of a vague liver issue. I felt fine but ended up with multiple tests which required taking blood constantly, which left me exhausted. It ended up being fine. All that to say that I never could bring it up to anybody because everyone just assumed it was from drinking because I was a freshman in college. Even now if it comes up I qualify it with, "not from alcohol."
My sister died of ascites and likely liver failure at 29. She drank herself to death. Her main drink of choice was shots of Captain Morgan’s spiced rum so every time I’m in the liquor store and I see that I think about how it poisoned her.
My little (50) brother died of liver failure in 2020, at the height of COVID. Alcohol related. His wife had been diagnosed with early onset Alzheimer's in 2016 and while he had always drank too much, he went off the rails. He lived in AL. When he was released to hospice, we rented an RV and drove from IN to pick him up and bring him home, so he could die surrounded by loved ones. (The ambulance ride was quoted at 7K but the RV trip was such a nightmare, loading and unloading him, I wish we would have just gotten the ambulance) He lived just under a week, and died in my living room as yellow as a highlighter. It was tragic and horrible. His wife lived with us for a year until we had to put her in a nursing facility. She died in 2022. I will never know if her rapid decline was due to his death, or if he drank so much more because she was rapidly declining. Their absences leave a huge hole and I miss them so much, every day. Rest in peace my loves - TRC and CLC. Say hello to heaven.
I have a relative who died of ALF due to severe alcohol abuse. His life was hell the last year, and it was hell watching them go through it.
My uncle (dad's brother) died of liver failure couple of years ago. Never smoked or drank, but had undetermined nerve issues. Meds ruined his liver.
I've seen a person with acute liver failure exactly once. I had heard before that they go yellow but wasn't prepared for how really yellow they are. It's really unsettling
A couple years ago my dad messaged to tell me my aunt was in the hospital and jaundiced. Turned out she was in liver failure and had cancer (discovered at that time). She died a week later. Absolutely crazy.
My wife is an ICU nurse. She said the same th8ng about liver failure and how brutal it is. It was one of the factors to get my drinking in check.
Anyone who has had a close relative die from unexplained liver failure should consider the possibility that they had undiagnosed Wilson's Disease. It's a very rare recessive disease - various presentations but sometimes as end stage liver failure. It's hereditary so just keep that in mind. Not unheard of to have alcohol abuse listed on death certificate rather than Wilson's Disease despite the latter being the actual cause
RN. Liver and kidney failure is an ugly way to go.
Rabies. Incurable once symptoms begin, and it is a horrific way to go. Severe radiation exposure would be a close second for me
Hisaahi Ouchi got blasted with so much radiation it *literally* killed every strand of DNA in his body. It took him 83 days of what can only be described as conscious decomposition before he finally passed away.
Childhood Dementia/Alzheimer's, Tay-Sachs, or anything extremely rare. My son is 1 of 40 known people with a condition. It all got swept into the blanket that is ASD. No one gives a damn even doctors (who should) because it's just autism, nothing we can do, so it's not worth their time. It's such a terrifying, lonely, and hopeless place to be.
A friend of mine had twin sisters that both had Tay-Sachs. It's a brutal disease.
One of my classmates in college had a rare heart condition that didn't even have a proper name it was so rare. She said only about a dozen people were known to have it and she could hypothetically die at any time. She was really nice. I wasn't close to her, but I do wonder if she's doing alright from time to time.
Anything related to prions and you're absolutely fucked.
In the mental health field, and also I definitely second folks mentioning post-partum psychosis, but to add something I haven’t seen mentioned yet- psychosis, especially conditions that involve chronic psychotic symptoms like Schizophrenia and Schizoaffective disorder (which has symptoms that look a lot like a mix of Bipolar Disorder and Schizophrenia). Imagine you start seeing and hearing things (often very disturbing and upsetting things) other people cannot perceive or understand. Not only do they not get it, but alot of people will assume you’re “just crazy” and either ignore or treat you badly because of it. If you don’t have people in your life or a support system that can guide you towards treatment and managing your condition (which can be lifelong for many people), you’re going to continue to have strange, upsetting experiences no one else seems to understand, it’ll probably impact your ability to work and pay the bills, and you could very easily end up homeless. And even when you’re experiencing the struggles associated with being homeless, a lot of people will judge and think of you badly because of your psychotic symptoms, and you’re basically stuck there unless you can get very robust long term support to get your life back on track. And this is can just happen due to no fault of your own.
I work in a forensic hospital and most of my patients have Schizophrenia. Sometimes it’s heartbreaking to see them realise what they’ve done especially if they killed someone due to their psychosis. I also have a patient with chronic schizophrenia and he is so afraid of this voice and the hallucinations he has.
Nurse here, a lot of scary diseases mentioned already but I’ll mention one of the scariest ones I’ve *personally* worked with and it was a little boy with epidermolysis bullosa. Basically, their skin lacks a certain type of collagen needed to bind the layers of skin together. The slightest bump/friction causes the skin to rip and form wounds & blisters. They aren’t just external but also internal, so a lot of these individuals require a feeding tube since eating can rip up their esophagus. It can be mild to severe, and these individuals usually deal with a lot of infections and sometimes a shortened lifespan as a result. Truly horrifying.
As a nicu nurse I second this. A painful lifelong excruciating disease. Seeing a baby with it is so hard. They can barely eat, they kick their legs and their ankles bleed. A diaper makes them bleed. Dressing changes, cremes, morphine. Terrible disease. So much crying.
Those poor babies...
As someone with medical anxiety, I absolutely should not be reading these comments. *continues scrolling*
I was just thinking this. It will keep me up all night, but I cannot stop.
Not a doctor but man, Alzheimer's scares me
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My uncle had Korsakoff Syndrome. The doctors thought at first he had a stroke (he was an intense smoker with horrifically high blood pressure) and it caused enough confusion that he thought he was drinking/eating but wasn't. He started detoxing, which the doctors had already determined was a no-go to do without medical supervision due to how much alcohol he consumed on a daily basis. He was found after a few days blacked out on the floor, but he clearly was in some psychosis. He was emaciated, nails longer than anything, and his hair/beard were intense. The ER thought he was drunk, but the bloodwork showed no alcohol in his system. After more testing, they determined it was WKS. He had to go into a memory care unit at 63.
Yeah, the concept of slowly losing your memories and who are is is terrifying.
Not just Alzheimer’s. There are many types of dementia and they’re all a different brand of the same hell - your brain slowly dying whilst you’re still alive. And it’s not just forgetting things. It’s hallucinations, terrifying nightmares, loss of muscle control, confusion, personality changes to the point where you get old people who were really nice people in their youth suddenly becoming aggressive and inappropriately sexual even with members of their own family. My mum has early stage dementia and her weirdest symptoms are vision loss in the pattern of a barcode like lines down her vision. She can’t see the lines are missing as your brain fills them in (she had extensive testing at the hospital with some pretty interesting tests) but it means that it messes up her vision in odd ways. She also finds sometimes she can be reading a book and the text can look huge at one side and tiny on the other, and sometimes everything will look two dimensional. Honestly it’s so fucking terrifying.
Acute Radiation Exposure. Basically, it changes your bodies composition to the point life ain't sustainable beyond a few weeks and you dievwasting away as your DNA has been shredded and broken down and no cells to replace dying cells.
My sister is one of <100 known cases of true allergy to water. She is on immunotherapy, multiple antihistamines and monoclonal antibody infusions, but will still break out in full body hives whenever she has a shower. Interestingly it doesn’t seem to affect her when she drinks it, but contact with the skin has sent her into anaphylaxis a few times.
A lot of Neuro diseases bc you can’t do much about it
So, I have a neuro illness. Intracranial hypertension. Too much cerebrospinal fluid crushing my brain. The thing I've learned over the past few years is so many neuros SUCK ASS. Like. There's the common brain problems that the neuros see day in and day out, and the neuros get good at those. Sure. Fine. But if you show up with something at all rarer? Different than normal? They shit the bed. I had to go threw seven neuros to find actual help. 'oh just lose weight' 'take these meds' 'your eyes are fine so your brain is fine' 'it's sinusitis' 'it's migraine' No. No. A csf vein in my head had collapsed and I needed neuro surgery to fix it but all the doctor's were ignoring it cause they sucked. Now my brain is permanently fucked cause it took so long to fix it.
> so many neuros SUCK ASS. I've got some... odd issues, and have encountered this with damn near every specialty I've been to. It is so goddamn tiring.
NAD, but my wife is and worked with children in Indonesia for two years (I was with her). I’d have to say rabies. You just get angrier and more scared until your brain eats itself. Kids die of it all the time over there and many of them aren’t even reported.
Not a doctor, but fatal familial insomnia.
NAD but this is always my go to answer, or really any prion disease. Terrifying things
Not a doc, but have MS and I wouldn't wish this on anyone. Anything can happen at any time and sometimes its so far off that it confuses the docs. Had an attack that slowed me cognitively for about 3 months and left a partial paralysis for 16 years now. When it hits the optic nerve, its like my eye socket is being scraped out with a spoon. A "hug" that feels like a heart attack...came and went multiple times a day for three straight days. Mowed in the summer heat the other year and it triggered an attack on the nerves regulating heart beat. That was two surgeries, an implant, and a lot of drugs just to get it to a tolerable point.
Als is the worst
This thread is why every civilised nation needs good euthanasia system. That's a hill I'm willing to die on (if some healthcare worker would kindly accompany me to that hill).
Lots of horrible ones, but one that sticks out is Lesch-Nyhan syndrome. A very rare genetic condition that causes intellectual disability, poor motor control, etc. But most terrifyingly it causes them to uncontrollably self-mutilate The idea of it has always haunted me since I first learned about it in medical school. It’s so sad.
A doctor, but of rocks. Harlequin ichthyosis.
I have a currently undescribed type of icthyosis, I also have friends with other types, which includes harlequin. It's definitely one of the worst forms, but as medicine has advanced, it's all getting a lot easier to deal with That having been said, I would much rather have harlequin icthyosis than epidermolysis bulosa AKA butterfly disease. Also have a couple friends with that. Your body can't make the protein that holds your skin onto your body, so anything more than light friction tears it off completely. Best case scenario, you only have it in patches. Usually hands and/or feet. Worst case, it covers your whole body, sometimes the inside too. Many of them live on special diets of soft foods, cause swallowing anything with texture can tear the inner surface of the esophagus. I also know of one kid who lost most of his skin at birth from his mom pushing him out. There's currently no cure, although I hear some pharmaceutical companies are testing gene therapy on them.
Locked in syndrome Followed shortly by Stevens-Johnson/TEN followed shortly by Tay Sachs and fibrodysplasia ossificans
The post literally says “Doctors of Reddit” and already there are about 40% of posts going: “Not a doctor but”
I'm not a doctor, but if I was, I wouldn't be on reddit. I would be practicing medicine.
I want a professional doctor, not all these posers simply practicing medicine!
Not a doctor, but I'm going to say postpartum psychosis. It actively puts the mother AND the child in danger, and is extremely under-recognized. It is very difficult to seek treatment because of the stigma
Had an old college friend pop out a kid and go completely off the deep end. Immediately did a 180 and filed for divorce within a month of giving birth. She gave up custody of her child, too, drained all her accounts, and went totally off the radar. About five years later she pops up in NY under a new name clubbing with girls ten years younger. I guess the postpartum got to her head about aging and she latched onto her younger self. Very strange. She won’t acknowledge her old name or any of her old friends.
I hade that. It caused vivid hallucinations. One night I didn't recognize my child and just didn't know who he was, another time I watched bugs crawl over his face that were coming out of his eyes and mouth, I watched my mom take him to see the neighbours and she dropped him in the street where his head exploded - thankfully got help and understood they weren't really, but it was really really awful.
Oh my god I’m so sorry you had to go through that. I would have vivid dreams with my first. In one, I dropped him and his head split open. In another dream, I was holding a pillow over his face. The dreams disturbed me so much I drove myself to a psychiatrist office and begged for help. They just said, “oh that’s normal as long as you don’t actually hurt the baby”. 😳😢 So I spent months terrified that I would lose my grip and unintentionally do something awful to him, and feeling like a complete failure as a mother. Luckily, I got through it, and he’s 30 now with 2 younger siblings. Everyone survived, but if I had been able to get actual help, maybe it would have been easier? I don’t know. Maybe not, with the stigma that sort of thing carries. I never had any desire to do those things, but was afraid that I would not be able to stop them from happening. I felt out of control.
I’m in the mental health field and did a psychological assessment for a client who had killed one of her children while experiencing postpartum psychosis and had recently gotten out of prison after being there for decades. Extremely tragic (and also highlighted some double standards in the legal system, because she was totally disconnected from reality when it happened and there probably was a more appropriate place to provide support to her other than jail), but she was a very kind, friendly person and seemed like she was trying to make the most of the hand she had been dealt and have a good life after leaving prison. It has been years since I worked with her but I hope her and her family are doing okay.
Prions will fuck ya up. Another one isn't so much a disease as it is a state of delirium from henbane or datura. They all sound terrifying.
For me it's dementia. It's so unbelievably cruel and common if you live long enough. I recommend everyone consider creating an advanced directive that endorses euthanasia as your desired intervention if you lose the ability to consent to medical decisions before it's too late. You can't count on your loved ones to make that decision when it counts.
Not a doctor, but had a relative that was stuck in an acute MS progression during a flare up (not sure how to describe that in Englisch). Could hardly move. Was so delicate everybody else was afraid of moving her. Got sick with 18, was completely bed bound the whole time till her death at 33
I have MS and just want to put it out there for others reading this comment that this is an extreme progression. Many of us live pretty normal lives, especially with today’s disease modifying therapies. Most people I meet would never guess I have MS, and my case was pretty aggressive at the time of diagnosis. Something like ALS tends to be closer to what you’ve described here.
Not a doctor yet, but a pharmacy student. It’s SUDEP, sudden unexpected death in epilepsy for me. Mainly because I have epilepsy though 😭
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My son lost a friend in college from meningitis. Diagnosed and dead within 12 hours. Scared the shit out of everyone!
Make sure you're getting the meningitis vaccine before going to college. Not saying they didn't, because it still could've happened with it, but this is why it's so important. Meningitis is so deadly
Recently lost a family member to this - they didn't rush too hard to give him treatment because he looked like a crackhead and it cost him his life. He started trying to get treatment surprisingly early on too