"Doctors of reddit, what is the rarest disease that you've encountered in your career?"
The responses ranged from genetic mutations, to mental disorders, to injury from an accident. Often, leaving doctors with more questions than answer. A few stories end in a miracle, and a few in tragedy.
Some of these tales are gruesome. So, readers beware.
Torso like a water balloon.
Patient admitted for something unrelated starts deteriorating for no discernible reason. Has some mild generalized abdominal pain, but other than that no specific symptoms. However, he keeps worsening to the point where he's barely hemodinamically stable.
On the abdominal contrast CT, there's fluid everywhere. Organs pushed against the abdominal wall. Just one enormous grey puddle from the top of his pelvis to his diaphragm.
And then, at some point, there's a scribble of white pretty much smack dab in the middle of it all (in this context, signifying active bleeding) It was shaped like the world's smallest firework pop, and it was nowhere close any major vessel. Everyone was dumbfounded for a hot minute.
It turned out to be a spontaneous, atraumatic rupture of the cystic artery. No surgeon in the building had ever seen one. Dude underwent embolization and made it out completely unscathed
Dermatologist here. Some fun ones:
- Chromhidrosis, where sweat comes out in different colors. My patient's was blue.
- Argyria, a permanent discoloration from silver overdose.
- Aquagenic urticaria, an allergy to contact with water.
I had a patient who presented with purple/silver skin. He looked like a smurf and the silver surfer had a baby. However he was in the ER for abdominal pain and was highly offended when I asked him about his skin pigmentation. My first impression from across the room was that he was severely hypoxic and I was amazed he was walking and talking. He made comments that made it appear he was a huge conspiracy theorists so I was suspicious of colloidal silver toxicity. When I asked him about it he shouted angrily "I don't take silver supplements anymore!" After some prying, he said he took them to self treat for a prion disease which he self diagnosed from "the grape juice test" where you spit out grape juice into a Petri dish and "a fungus grows out of it". At this point I'm like yeah this patient is f*cking nuts. I'm pretty sure he listened to too much Alex Jones and as a result permanently died his skin blue, a condition called argyria
Ringing in the ear.
Objective tinnitus- I could lean close to the patient's ear and hear a ringing noise coming out. Central Deafness- patient had an anoxic brain injury and was essentially deaf even though there was nothing wrong with his ears.
To answer some of the questions below: the objective tinnitus was following an ear surgery. The patients middle ear muscles were twitching constantly causing a ringing sound and her eardrum was acting like a speaker so we could hear it outside her head. This does not happen often and I will probably never see it again. I don't know what ended up happening with her but I think the ENT did some revision to try to fix it.
When mom had a stroke she became blind for a couple weeks. However while she was blind her severe deafness went away and she could hear me breathing on the other side of the room. When her vision improved she became deafer again. Her doctor was stumped.
Vanished without a trace.
Gorham's disease aka vanishing skull syndrome. A softball size area of my patient's skull disappeared and left behind a soft spot. she ended up with a plastic plate to protect her brain. Crazy disease.
10 year old boy "pregnant" with his twin.
Fetus-in-fetu. 10 year old boy "pregnant" with his parasitic twin (PT).
Case 10 y.o. boy came in with enlarging abdominal mass and intermittent generalized weakness. Imaging revealed a parasitic "fetus" which was also growing in size. History revealed mass noted 2 years ago which enlarged rapidly the last 3-4 months. Within days of admission, boy's organs begin to fail with no apparent reason. He was healthy and eating well when he was admitted. Family wanted surgical intervention to separate the parasitic twin against surgeons' advice. parasitic twin was basically starving/poisoning the boy to death. Surgeons opened the boy up and found that the boy and parasitic twin share a (stomach, liver, heart, blood vessels - mesodermal organs) basically too complex to operate. The boy passed away after.
This happened to a poor family in a underfunded government hospital in a corruption-infested country. The parasitic twin was donated to the hospital. It had teeth with hairy limbs with the longest curved baby nails. I can't describe it further. It is on display at the Surgeon's Hall.
Believed he was dead.
Walking corpse syndrome - cotard delusion. 17 years in mental health and I've seen it once. The belief that some or all of you is dead. The guy was so certain he was dead he believed he was a zombie.
Persistent genital arousal disorder.
Persistent genital arousal disorder. Having multiple orgasms a day, at any time, without any stimulation; becomes quite bothersome and uncomfortable, limits your daily activities and sleep is interrupted. Over time patients can become very hopeless. It is remarkable the dissonance between the name and the obvious joke, and the tremendous suffering these patients endure.
Two disorders, one genetic mutation.
Geneticist here. I work in a pretty big hospital and we get hard to solve cases from all over the world. Some of the cases are so unique, there is literally no name yet the genetic disorder. So those would be the rarest. But for the sake of this thread, I will discuss something that is not the rarest, but is pretty rare, and one of the most interesting:
Prader Willi or Angelman Sydrome. -these are two extremely different disorders that are both caused by the same exact genetic mutation. The only difference is if the mutation occurred on the paternal chromosome or the maternal chromosome.
If it occurred on the maternal chromosome, you get Angelman Syndrome which typically results in the child being overly happy, laughing all the time with light eyes and hair color, but also severe intellectual and physical disabilities.
If the mutation occurred on the paternal chromosome you get Prader Willi Syndrome, which results in the child having excessive hunger and can literally eat him/herself to death, but with only mild cognitive disability. These kids may go a very long time not getting diagnosed and will become quite obese.
Skin over the eyes.
The rarest I've encountered is KID Syndrome (Keratitis Ichthyosis Deafness). A 5 year old, very sweet, blind girl who literally had rough, thick, opaque skin on the surface of her eyes.
The three words in the name define the 3 primary issues it causes. It causes keratitis which causes the blindness, it causes ichthyosis thus scaly skin, and lastly it causes deafness. The first two words are not adjectives that describe the blindness, it's simply three afflictions caused by a single root cause.
Some advice from an eye doctor
Eye doctor here:
Patient had bilateral acanthamoeba keratitis. Estimated that 0.0004% of contact lens wearers will be diagnosed with this condition in ONE EYE. My patient had it in both!
Acanthamoeba keratitis is a rare parasitic infection of your cornea.
My patient presented after coming back from vacation complaining of a little hazy vision and his eyes feeling a bit off. His cornea looked pristine but I did note a little ocular inflammation. Turns out he had an underlying autoimmune condition (ankylosing spondylitis) known to cause ocular inflammation (uveitis) and recently stopped taking his medication so I thought this was a slam dunk case. When he came back for his follow up, we realized this was not a slam dunk, and we sent him out to a corneal specialist ASAP and now he is back to 20/20 vision in each eye! His case ended up being caused by wearing his contact lenses while swimming in a lake!
Remember don't sleep, shower, or swim with your contact lenses on and make sure to visit your eye doctor for regular check ups :)
If you're feeling a little anxious after reading this list, remember these are all the rarest these doctors have ever seen.
But then again, it did happen to someone!
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For the last year the world has only been able to focus on Covid. It has been the main and often only disease we discuss. Of course we had reason, being trapped in our own lives by a debilitating illness will hinder many a conversation, but we can't forget that there are many more diseases out there that we need to not ignore.Redditor u/Azooz7up wanted to hear from the medical professionals about what health issues we need to know more about by asking.... Doctors of Reddit, what is a disease that terrifies you but most people don't care about?
Rodents and Plaguecolon GIF by South ParkGiphy
Hantavirus. Found in rodent waste and inhaled, makes you bleed to death before diagnosis.
Rabies is nothing to mess around with either. Once symptoms appear, a miserable death is all that's left.
Doctor here. Strokes
Risk factors include most of the "prexisting condition" that nobody seems to care about (hypertension, diabetes, smoking). And once you get a stroke it's can be extremely debilitating and life changing.
I have seen people go from "but grandma was fine just a touch of the sugars" to "grandma now can't move, talk, or feed herself".
The fact that 1) your life can change from 1 minute to the next and 2) the fact that you are basically a prison of your own body after wards is just terrifying to me.
There are two.
'Locked In Syndrome' would be so utterly tedious you'd want to die, especially if it was misdiagnosed as a vegetative state.
Severe 'Central Pain Syndrome' is so awful people with it frequently do end their lives.
A colleague of mine treated a woman who was diagnosed with Locked-in Syndrome. What made it worse is that she (the woman with the syndrome) was a nurse at the hospital she was admitted into. It was just so sad. Being aware of what's going on around you but unable to move or speak.
Common yet Severe Changes....
Doctor, currently in residency.
I'd agree with prion diseases that were already mentioned but a terrifying one that is not as known is HSV1 encephalitis. Caused by the herpes simplex 1 virus which is incredibly common (mainly known for causing cold sores).
HSV encephalitis affects all age groups and almost always leaves people with significant neurological damage or personality changes.
Unstoppable....sleepy chris evans GIF by VideolandGiphy
Prion diseases, specifically Fatal Familial Insomnia.
Imagine one day you can't fall asleep for some reason. Within about 18 months, you'll be dead, and there's absolutely nothing you can do to stop it.
The exact pathogenesis is not known, although immunosuppression may increase risk. It's rare, but the fact that there is not much of a warning to it and the fact that it can permanently change your personality and leave you with long-term neurological symptoms even with early treatment with anti-virals is terrifying to me, especially with how common HSV 1 is.
Alcoholic hepatitis (acute liver injury from alcohol) and cirrhosis (chronic liver injury).
We do not really have any treatment for it beyond steroids (that only sometimes help) in the acute period and supportive care. Not entirely clear why particular alcohol toxin exposures result in the acute injury (i.e. some people may be heavy drinkers for a lifetime and have no major acute hepatitis episodes, whereas other people aren't even heavy drinkers and just one bad binge send them over the edge). Our ICU is often filled with chronic liver cirrhosis patients awaiting transplant and the vast majority do not make it to that point .
Mercy for Uncle
My "uncle" (more like a godfather if my culture did those) died from CJD in 2009; and he was actually a doctor, so he knew exactly what to expect. The only "mercy" was that it worked fast, about 8-9 months from diagnosis to death. My father has been suffering from Alzheimer's for almost a decade now, and in a strange way I'm jealous of those whose loved ones go quickly. Hopefully you know what I mean, as I imagine anyone who's dealt with Alzheimer's should.
Med student here. Leach-Nyhan Syndrome is something I wouldn't wish on anyone. Most people have never even heard of it before. It's an error in purine metabolism. This syndrome has a ton of symptoms and co-morbidities, but one of the most shocking is self-mutilation. These babies often eat their own lips, fingers, and hands. They also tend to slam their heads against objects.
They often have to be restrained and either have their teeth removed or wear a mouth guard, older people with the disease often ask to be restrained because they have no control. What makes this disease even worse though is these individuals are not insensitive to pain. So they feel the pain as they in lack of a better term "eat themselves."
While in Trauma...
Simple bad luck...
I see so many people die falling from standing... not really a disease but I have seen things as simple as stepping off a parking block lead to someone losing their leg.
Or a 13 year old girl get scalped when her hair got caught in a go cart engine fan.
Fall from deer stand.
Fall through your roof onto your wife while you were both up there looking for the leak.
Nephew accidentally shooting your penis and scrotum while looking at a shotgun.
Edit: My two actual disease I don't ever want Fistulizing Crohn's disease.
Necrotizing pancreatitis especially from something like gallstone pancreatitis.
Losing the basics....Sad Tears GIF by SpongeBob SquarePantsGiphy
Not a doctor, but my mom's side of the family is plagued with Huntington's. If one of your parents has it, then you have a 50/50 shot of getting it. It is legitimately a concoction of Parkinson's and Alzheimer's in one.
I've already seen the involuntary twitches and restlessness of my mom while she sits and watches TV. Definitely don't want to get tested to find out whether I have it or not. I used this example in University for context. Write your name down on a piece of paper and then try doing the same thing while constantly shaking your arm. Something as simple as writing your name or dialing a telephone become nearly impossible tasks.
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