35 Rare Medical Conditions That Sound Very Fake, But Are Actually Very Real

A former Reddit user asked the community, “What’s the wildest medical condition you’ve ever heard of?” Here’s what they had to say:

Note: Some submissions are from this Reddit thread.

1. “Pentalogy of Cantrell, which is when the heart is outside of the chest because the sternum has not fused. I’d seen it before with just a bit of the heart on view, but with a certain kid, it was completely out. You could see pretty much the whole heart with the aorta and lung vessels, all that was holding it, the heart just beating away. As a doctor, I’d done adult cardiac for a bit, but this was a little different. Tiny. We covered it with a polystyrene cup until the kid went to have it pushed back inside. It’s meant to be 1 in 65,000 live births.”

—u/raftsa

2. “Fibrodysplasia ossificans progressiva is a rare musculoskeletal condition where, after birth and progressively through life, muscles and tendons are gradually transformed into bone (a process called ossification). This creates a second ‘skeleton’ of extra bone, which makes movement impossible.”

—u/yParticle

3. “Body integrity dysphoria. People who desperately want to cut off a part of their body, like a limb, for instance. They have always been thought of as unstable until someone decided to examine their brains and realized that the limb in question isn’t being registered in their brain. To them, it feels like an alien appendage was sewn to their body. I find that so fascinating.”

—u/[deleted]

4. “Aquagenic urticaria, which is an allergy to water. It’s extremely rare, and the last time I researched it, I believe there were fewer than 10 documented cases. And yes, they are allergic to themselves. They can’t drink straight water, typical hygiene is a huge no-go, and even humidity can trigger bad reactions.”

—u/KaliCalamity

5. “Objective tinnitus. As a doctor, I could lean close to the patient’s ear and hear a ringing noise coming out. The Objective tinnitus was following an ear surgery. The patient’s 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. This is very different than Subjective tinnitus (the normal kind where the ringing is only heard in your head). That is caused by a lot of different things, but we generally don’t know why it happens and don’t have a lot of great ways to fix it.”

—u/palmaud

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6. “There are conjoined twins (the Hogan sisters) who are attached at the head, and their brains are attached. Each one can see through her sister’s eyes, and each one can taste the food the other one is eating.”

—u/Fun_in_Space

7. “The Capgras delusion. The person becomes inalterably convinced that someone close to them has been replaced by an imposter who has disguised him/herself so cleverly that they look identical to the replaced person. ‘Yes, this woman looks and acts just like my wife and knows everything my wife would know. But she is an imposter disguised to fool me, and I will have nothing to do with her.’ It’s funny to think about in some ways, but would be absolutely terrifying to have.”

—u/dr3rdeye

8. “In the past, I was a student nurse. Probably one of the most awful medical conditions that I’ve ever read about is Anencephaly. This occurs when a baby is born without a portion of its skull, exposing its brain. The baby is usually stillborn, but if they are born alive, they usually die very soon after birth (anywhere from hours to days). It’s heartbreaking.”

—u/Fluffy_Fox_Kit

9. “Auto-Brewery Syndrome (or Gut Fermentation Syndrome) is a condition in which ethanol is produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system. Patients with Auto-Brewery Syndrome present with many of the signs and symptoms of alcohol intoxication while denying the intake of alcohol.”

—u/Mansenmania

10. “Fatal insomnia. It’s a pretty rare condition and horrible as hell. Basically, it starts with casual sleeping problems, which worsen over time. In the end, it leads to total insomnia, which results in various symptoms, such as dementia, coordination issues, paranoia, and hallucinations, until you die. There is no cure.”

—u/yaigralazrya

11. “Alien hand syndrome. I took care of someone with this medical condition. It was like their left arm/hand had a mind of its own. They had to have someone hold the arm down while they ate because the left hand would grab the right hand and actively push it away, preventing them from feeding themselves. The left would pick up objects and hold them/try to use them on its own accord. The person had absolutely no control over the left arm whatsoever. Besides preventing the right arm from using utensils/feeding themselves, the left arm’s actions were harmless, almost curious, in a sense.”

—u/ticklemytentacles

12. “Locked-in syndrome. You are essentially in a coma but are completely alert and aware of everything that happens to you, sounds and all. It’s like sleep paralysis, but it’s always there. A few others are Tree-man syndrome, a condition where the skin grows like tree bark, and similar conditions. Stiff Person Syndrome is a condition where your muscles become increasingly stiff until you are eventually locked in whatever position you were in at the end. And Hyperthymesia allows people to remember nearly every event of their life with great precision.”

—u/Sinz_Doe

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13. “I have Ehlers-Danlos Syndrome. It contains a spectrum of hypermobility, skin issues, and, in some cases, vascular failure. My particular brand is periodontal. No matter how good my dental hygiene is, my gums will always bleed, and eventually my teeth will crumble just like my mom’s did… not from cavities, just decay because they can. My two children inherited it from me, which we didn’t know about until we saw it happen to our second child. It caused us to stop having any other kids. My oldest almost bled out from having a vein burst on day 10 after their tonsillectomy. My youngest’s two front teeth have been broken off by head smashes from friends. The oldest also has a propensity to hyperextend their knee and is a toe walker.”

—u/Altril2010

14. “Geographic tongue is when certain foods will burn a hole or canyons in your tongue. Usually, it’s lemon, walnuts, and eggplant for me. The burning starts within a minute. Only dairy products help with the pain.”

—u/FigWhisperer

15. “Harlequin ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond-shaped, trapezoid-shaped, or rectangular plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted chest movement can lead to breathing difficulties. These plates fall off over several weeks.”

—u/highfivesandhandjobs

16. “Güevedoce is a rare medical condition found in the Dominican Republic, Papua New Guinea, and Turkey, where an inability to metabolize testosterone for embryonic development results in infants being born with female genitalia. However, when puberty begins at age 12, their body is flooded with testosterone, resulting in a natural biological transition to male.”

—u/I_want_to_eat_it

17. “My nephew had PFAPA (Periodic fever, Aphthous stomatitis, Pharyngitis, Adenitis). Essentially, he would experience a very high fever every three to four weeks, accompanied by no other symptoms except the fever itself. One night, when he was about five years old, he was having an episode and called his mom (my sister) into his room. He told her that he was really scared because his bedroom was covered in bees. I guess the hallucinations aren’t always fun. He had his tonsils and adenoids removed, and that was the cure for his PFAPA.”

—u/emjayholla

18. “Cotard’s Syndrome (Walking Corpse Syndrome) is a rare condition where a person believes they are dead, don’t exist, or have lost their internal organs. It can lead to severe delusions and distorted perceptions of reality.”

—u/[deleted]

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19. “Prosopagnosia (face blindness) comes in varying degrees of severity. I have it. I have a lot of trouble recognizing people in unfamiliar contexts, like seeing your teacher at the grocery store. I have to see somebody many times before I can recognize their face, unless they have a distinguishing feature (like my friend with a long beard). My friends tend to be people who look or dress in a distinct way, because it’s so much easier for me to recognize them.”

—u/linuxgeekmama

20. “Gorham’s disease, aka Vanishing Skull Syndrome. A softball-sized area of my patient’s skull disappeared, leaving behind a soft spot. She ended up with a plastic plate to protect her brain.”

—u/Mediocre_Street9040

21. “Fulminant hepatitis, which is quick liver failure. When I was a medical student, we received a woman in her mid-forties who was plus-size. She was screaming because she had the worst imaginable headache, and also, she was completely yellow (like a character from The Simpsons). I had to take a blood sample; her blood was yellow like honey. In the lab, they informed me that the blood might not be analyzed due to its characteristics. Ultimately, they gave me the results: she had bilirubin of 50 mg, if I remember correctly (normally, it’s only in the margin of 1 mg). She died in less than an hour, with a lot of pain. The worst part was seeing the doctor telling their daughters that they had to say goodbye to their mother. She got this disease after eating some kind of mushrooms in the woods. These happened in Mexico City.”

—u/OutlandishnessNo6964

22. “Subacute sclerosing panencephalitis. Measles can ruin your life in a lot of ways, but with this rare medical condition, you get regular old measles, survive, and up to 15 years after that, you just develop an inflammation of the brain out of thin air. There is no effective treatment, and it’s basically 100% deadly.”

—u/snoozeschmooze

23. “I have a medical condition called Tetragametic chimerism, where I’m basically a fusion of two twins at an extremely early stage of pregnancy. It’s such an early stage that nothing has started forming yet, so we basically end up looking like one person with two sets of DNA. I have both XX and XY chromosomes, which leads to a few extra intersex-related issues (mixed puberties and menstruation with external male genitalia). It’s hard to tell exactly what’s caused by it, but I generally attribute the fact that I’m ambidextrous to it, as well as a lot of oddities about my body, such as very long legs compared to torso (my legs are the normal length for someone 10 cm taller than me). It also means I’m at high risk of immune issues, metabolize everything extremely weirdly, and genetic testing is extremely hard to do.”

“We’re extremely rare, although it’s possible rates are actually higher because it’s hard to detect and many people might be mostly asymptomatic, especially if the two sets of DNA are of the same sex.”

—u/RoseByAnotherName45

24. “Situs inversus is a condition where your internal organs are basically flipped around from where they should be, your heart is on the right, and the orientation of the stomach and intestines is reversed. A friend of mine from college was one of the rare few with total situs inversus, and because it was literally all of her organs reversed, it didn’t actually cause her any medical issues. Though she did have to explain it to literally every healthcare professional who worked with her.”

—u/Gold_Mask_54

25. “Hemispatial neglect. Basically, it’s completely ignoring the existence of either the left or right side of whatever is in front of you due to damage to one side of the brain. Per Wikipedia: ‘In an extreme case, a patient with neglect might fail to eat the food on the left half of their plate, even though they complain of being hungry.'”

—u/Metals4J

26. “Cytokine Release Syndrome. Basically, your immune system goes into hyperdrive, killing stuff that the cytokines release. Dying cells overwhelm your body, and you die. Apparently, it feels like getting the flu, but 100 times worse. Usually, people with cancer are treated with immunotherapies. So you either die by cancer or die by your immune system being a bit too effective.”

—u/arabidopsis

27. “Sexually induced sneezing. It is a legit rare medical condition, and I have it. I didn’t find out until about 10 years ago, thanks to Google. How it works specifically for me is that any time I start to fantasize mentally with the real intent to get off, I almost always sneeze twice. It just happens when I start to fantasize — just two sneezes. That’s it. It does not happen with a passing thought. I have to really fantasize with the intent of getting off. It does not happen any other way for me, and it doesn’t happen before or during actual sex. Just when I seriously fantasize.”

—u/dirtymoney

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28. “Epidermolysis Bullosa is one of the worst and most painful diseases. Sometimes referred to as Butterfly children, these individuals lack a type of collagen that essentially binds their skin together, causing their skin to blister and peel off easily. They must take baths daily to prevent infection, which is incredibly painful. The average life expectancy is only like 20 years old.”

—u/fallen-summer

29. “Krabbe disease and most other forms of Leukodystrophy are pretty horrible diseases, and affect mostly children, sadly. I didn’t know what either was before April of this year. Then, my 20-month-old son started losing all of his abilities, such as walking, crawling, and even sitting up on his own, in a matter of weeks. He was diagnosed with Krabbe disease, and now we have spent four months in a hospital getting him a stem cell transplant to prolong his life. We are also hoping to get him into a gene therapy clinical trial. There is no cure, but we must do everything we can for him.”

—u/Vetchemh2

30. “Kuru is a very rare disease, where the sufferer experiences a number of unwanted symptoms, like tremors and uncontrollable laughter, before eventually dying. It is caused by an infectious protein (prion) found in contaminated human brain tissue. Kuru is found among people from New Guinea who practiced a form of cannibalism in which they ate the brains of dead people as part of a funeral ritual.”

—u/TheLadySinclair

31. “Ivemark Syndrome. My baby lived for five days. The cardiologist couldn’t even give us the name of the medical condition. I found it out myself two and a half years after my son died. He had a 25% chance of surviving 12 months. Multiple heart surgeries were planned, but he died two days before the first one. He was missing his spleen, so if he had lived, he would have had extra vaccinations. He had 12 ribs on one side and 11 on the other. We knew prior to birth there was something wrong; we just didn’t know how bad until the echo and CT were done.”

“I had the option to terminate my pregnancy, but I chose to give him every chance we could. When he was born, the cardiologist suggested supportive care over surgery, but we were willing to give it a go if we were. One in every 250,000 babies has Atrial isomerism; it’s unknown exactly how many, and there isn’t enough research to know exactly how common Ivemark syndrome is.”

—u/zieaendaire

32. “Catamenial pneumothorax. It’s when your lung spontaneously collapses during menstruation, the cause of which is unknown, but theorized to be related to endometrial tissue that grows near the diaphragm and causes holes/air to leak into your chest cavity.”

—u/pastawizard

33. “Sanfilippo Syndrome is a type of mucopolysaccharidosis that affects 1 in 70,000 children. Children with Sanfilippo Syndrome lack an enzyme that removes heparan sulfate from their organs, and it eventually builds up, causing systemic issues and progressive dementia. It is always terminal, with most patients dying in their late teens. We found out about it when a doctor noticed my daughter had some of the characteristics, and we had to go for genetic testing. Luckily, she doesn’t have it, but that was a very scary period in our lives, and I learned a lot about this disease. I even started following some families on social media who have children with it, so I could learn more.”

—u/ThisMFerIsNotReal

34. “A childhood friend of mine was diagnosed with a super-rare form of paralysis called Guillain-Barré syndrome. When he was 12, he woke up one morning feeling pain all throughout his lower body. An hour later, he was completely paralyzed from the waist down. He’s been in a wheelchair since then. There is no hope for him to ever walk or use his legs again. And believe me, he and his family tried their hardest, going to the top research facilities around the country in the US. The problem is that it’s a really rare disease, and researchers don’t know a lot about it, including where it comes from, so there isn’t a cure, and treatments for it are expensive.”

—u/A_Wild_Striker

35. And, “Solar Urticaria is when you’re allergic to sunlight. I work in the medical field, and I had to go to my doctor and literally tell him that with all of the evidence available to me, I was genuinely convinced the patient’s symptoms were sunlight-driven. He laughed, reviewed my note, spoke with the patient, and, for ‘giggles,’ we had him stand outside in the sun for a few minutes. Lo and behold, he comes back in covered in hives, and my doctor is speechless, and I start getting his paperwork ready for his consult with the dermatologist. They later confirmed it. I had to stick to my guns to convince my doctor that the patient was allergic to sunlight. I helped diagnose a vampire, and I’m still proud of it.”

—u/Bucky_Ohare

Note: Some submissions have been edited for length and/or clarity.

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