Doctors, what's the rarest disease you've ever encountered in your career? 

Parents being siblings, that's rough I hope she's ok.

My eldest sister has Williams Syndrome. She is the happiest and friendliest person on planet earth. She'll ask you a thousand questions and has a highly contagious smile. I love her.

Nurse here! Was caring for a woman that came in with classical signs of retinal detachment. However she had also dropped half of her body weight from 180 lbs to 90 lbs in a three month period. They do her retinal repair and begin looking at her weight loss. She’s been consistently hyperglycemic and reports no family history of diabetes. Doctors do a CT of her abdomen and find that instead of a full pancreas, there’s a small Christmas tree light sized clump of beta cells that had been making all of the insulin she needed for the first 29 years of life. One day, BAM, they fizzled out and now she’s type 1 diabetic and needing oral enzymes to eat. Diagnosis: pancreatic agenesis.

Hearing my neurological condition in the same sentence as “BRAIN ON FIRE” is insane shit.

Firstly, I am an old lady. Not rare, not even interesting, but I became a patient of a sweet, young female doctor who opened a practice with her husband. I owe her a lot because she weaned me off of Xanax & started me on Zoloft & I am very happy about that. Also, one morning I woke up with pain in my right ear - I wondered how my cat managed to mangle my ear without waking me up, it was that severe. I went to see my sweet lady doctor & when she examined my ear, she became very animated & excited, she told me she thought I had shingles, I was her first shingles case & she ran down the hallway to get her husband's opinion. I couldn't help but giggle at her excitement, she was adorable.

My son was unlucky enough to have a rare cancer. He died of FLHCC, of all the liver cancers diagnosed each year, this type makes up only 1% of them. The deadliest part was that it happens topically to young people aged 15 to 25 years old with healthy livers. As the tumour grows, the healthy liver compensates and compensates with very little if any symptoms because healthy young livers will just keep working harder to keep up. He was seen by several drs over 6 months. Didn't show up on blood tests, CAT scan, MRI or ultrasound until his liver failed because that type of tumor looks very similar density as the liver. His liver failed and it was only 2 months from diagnosis before he died at 12 years old. We didn't have a history of cancer in our family before him. He was a healthy boy who loved geology and was a wonderful student.

Multiple vets said my cat had an allergy, but nothing helped and he was literally ripping his skin scratching himself. In desperation, I scheduled him to have his hind feet de-clawed. When they picked him up to take him to surgery, his skin tore, which got the vet's attention (she hadn't seen him before). One skin biopsy lab test later: he has Ehlers-Danlos (fragile skin) syndrome, and I stopped feeling guilty for having his hind feet de-clawed.

Once I had a patient whose heart was on the wrong side of his chest. He had a host of other genetic problems and it was surprising that he’d made it to his 40s.

Not a dr but a patient; I suffer from aortic coarctation which is the narrowing of my aorta (main and largest artery in the heart) as well as multiple out-pouches/aneurysms on my aorta. Both defects are somewhat common but in my case my narrowing is in an abnormal location and it’s not normal to have a whole cluster of aneurysms especially on the aorta and especially with a narrowing. My cardiologist sent it to another cardiologist in Boston who’s been in practice for 20+ years who had never seen it before. Took almost 3 months and a whole team of doctors to plan how to perform the surgery and I had to have my cardiologist and another cardiologist perform it. Found out I get talked about at conferences when I went to a whole different hospital and the dr knew exactly who I was😅 side note: it’s been 2 years (as of yesterday/dec 17th) and I’m doing good (:

I tripped and fell one day, injured my hand. Tried to ignore it as I figured that if it was a broken hand bone, they don't often do much if all is properly aligned. But the pain continued. So I finally had it looked at. The doctor called me later that day and said "Good news, you don't have any broken bones....but we did see something on the x-ray, and not to cause alarm, but we need more imaging,...." and I read the ex-ray report while waiting for my CT Scan, and I had to do a lot of googling. The report said "mass seen along multiple hand and wrist bones. Possible bone cancer or Melorheostosis." So I looked up Melorheostosis, and that had a terrifying description, including "Amputation does little to cure the disease." and I'm like, ah hell no!" But when I saw that it was so rare that it was literally less than one in a million people who have it, I shrugged it offf as impossible. then I looked up the odds of getting primary cancer in ones' hand bones and found that it was like maybe 1 in 100,000 so I was relieved. After the CT scan, I was told that I did NOT have cancer. But that I DID have melorheostosis (rough translation of the fancy name is "candle wax bones")... I joined the two or three hundred other people who had it on Planet Earth. I learned that I'd probably always had it, as it is discovered in cases like mine as incidental to other inquiries. But those who have it on one leg, near a growth plate, often have a lifetime of difficulties. I followed the case of a young boy in Colorado who had it on his growth plates in his leg. One leg, and it caused that leg to not grow like the other one. Eventually the only solution they had was to remove a significant chunk of his GOOD leg so that he wouldn't have a massive leg length deficiency. (my hubby had a catastrophic car v. pedestrian accident, and when all was healed, one leg was 3/4 of an inch different in height). One of the first times a doctor tried to amputate a limb with this disease was an abject failure. They broke all the bone saws trying to detach the diseased bone, but it was too hard, so they had to get a diamond saw in to cut the bone. And then the unaffected bone further up the limb got saturated in the disease anyway, so the person was out one limb, and yet had all the pain and dysfunction of the disease still. If you're ever bored, look it up!

So I went to the doctor complaining of ear pain and was given antibiotics for an ear infection. Barely made a difference. Went to carespot and was told it was a yeast infection in my ear. I was given anti fungal ear drops and a wick to soak up fluid. Didn’t work. Finally went to an ENT and was diagnosed with having a pimple next to my ear drum. Doctor popped it and immediate relief to the point I almost cried. The fact that it took three different doctors to figure out what the problem was tell me it’s probably not common.

You did pretty well on those medical words. I even understood most of them. Can you imagine what a riot this would have been if an AI voice had read it?

Brazilian doctor here too, saw one year ago a woman with Cogan syndrome, a vasculitis (inflamation of the blood vessels) with ocular and auditory involvement. There's about 300 cases documented.

7:08 silver isn't necessarily BAD for you, it just turns your skin blue. Which isn't great, but it doesn't really hurt. There is also a rare gene that can give someone blue skin, usually caused by inbreeding. In that case the blue skin is easily cured, though.

I have been a Hospice nurse for 24 years. The rarest and saddest patient I took care of was a man with Penile Cancer. By the time I took care of him, he had to have everything removed. Very sad.😢

Adding "spontaneous artery rupture" to the list of fears that live in the back of my brain.

"What is the rarest disease you've ever encountered?" "I got to pick a name for it."

I learned about Lesch-Nihan syndrome in my molecular pathology class (biochem degree) last year. It´s the only class I´d say I left traumatized from. Those poor things. It only increased by desire to work in the genetics disorders and rare diseases branch of medicinal science.

Hello, u/MrKnowsEverything here, I'm really glad you decided to dub and share the stories under my question and I'm really glad it got the traction it deserved. Before I deleted my account on Reddit, I wouldn't have ever thought this question would blow out to such such a scale, massing 1.5 million views over all platforms. I learned a fuck ton of information from posting the question such as new diseases I haven't heard or any unknown details about such diseases and I hope others did too! Thank you for sharing this hidden clump of information and I hope you continue doing it!

I had stump appendicitis. Which is when you have it removed normally and a 2mm stump is left so they don't nick your colon. Well there is a .02% chance that your stump can get appendicitis of it's own later on down the line. I had to have it removed again. The surgical team was nearly excited about it. They said they had read about it in med school but never seen it in real life. They took the residents/interns in to meet me because "You're never going to see this again!" Turns out I am one of less than 50 people who has had this happen.

My youngest brother has Prader-Willi Syndrome, and it has been a horrible experience for us. He is always hungry, leading to him stealing food, so we must keep a constant eye on him. Not to mention, he has a lot of food allergies, so the food he does get his hands on causes him a lot of intestinal pain. He is depressed, miserable, and angry because he's always hungry, and he has a developmental delay, which causes him to be mentally younger. Physically, he's 18, but mentally, he is about 8 years old. Honestly, I worry about him as my parents won't always be here to care for him, and due to my own medical issues, I won't be able to give him adequate care when they are gone. I hope in the future, more studies are done on this and more treatments are available because, as of right now, the only thing family members of Prader-Willi victims can do is prevent them from eating themselves to death by keeping an eye on amount of food they eat, but that is not foolproof.

I have a disease that is on the rare diseases list. Type 2 Hemochromatosis Now, you're telling yourself "But 10% of the population has hemochromatosis" And I'm here to tell you: They got type 1. Type 1 becomes apparent in someone's 40s or 50s and usually, a diet that is light in iron or phlebotomy every 6 months or every year can keep things steady. Type 2 is a whole other bag of crap. It's the same thing at its base, except it goes harder, having the body absorb even more iron. It's also called juvenile hemochromatosis, since it will usually show up between the age of 16 and early 20s. I got diagnosed at 18 and I get regular bloodwork done and I got passed around geneticists and the such at the beginning because woo, rare genetic disease!!

I knew someone in my primary school who had a condition so rare there’s only 5 known cases in the world, it doesn’t even have a name yet. I think the doctors actually wanted to name it after them but the family refused Haven’t seen that person in a while, we go to different schools now. I hope they are alright

1:27 - I heard of this disease too. I believe Bob Saget’s sister had it and ended up passing away. If it wasn’t his sister, she was the sister of a celebrity. He talked about it. The first symptom was her fingertips started to harden and slowly but surely, her body began to get stiff. He said soon her body would be too stiff to move and eventually she would die from it. This was many years ago and I haven’t heard of anyone else getting the disease but him talking about how she would slowly become incapable of movement was so sad.

Just the fact that medical professionals can diagnose these conditions is amazing to me. We are fortunate to live in modern times.

Props to you! You pronounced most of the medical terms correctly....as as correctly as most doctors pronounce them. FYI I took medical terminology for my medical assistant degree.

I am a female. Was born without a uterus at all. Got told that when I was 16. That was a bit over 20 years ago. Back then, it may not have had a name for that, but now it could be MRHK. Kind of sounds like those that are diagnosed with that though have some sort of uterus, even an underdeveloped one, but i dont even have that

I have one of those rare conditions that they don't really know what causes it: Pseudotumor Cerebri, aka Ideopathic Intracranial Hypertension. In short, the Cerebral Spinal Fluid (CSF) that cushions the brain and spinal cord doesn't drain properly, increasing the pressure, which also presses on the optic nerve and can eventually cause permanent vision damage if left untreated. Tends to cause migraines, may cause dizziness, pulsatile tinnitus (whooshing sound in time with the heart beat in the ear), possible facial twitching, and so on. 1 in 100,000 type of thing. Most doctors are not familiar. Anesthesiologist had to look it up when I was in for something else. Only research place for it in the US is in Boston. It's pretty limited. Most commonly occurring in women, more so in those that are obese or have irregular cycles, or both. Can be treated sometimes with medications, which may have nasty side effects, or surgery to put in stent, which sometimes has to be redone, may get clogged, etc. Medication is usually first line of defense.

"Doctor word make brain go off" is the biggest mood I've heard in a reddit reading video lmao

not so fun fact: Leishmaniasis can be transmitted from bugs here in deep south Texas. It can also be trasmitted in Florida. I had to learn about it in my ecology and agriculture classes. First because we were taught about how it might become more common in the central part of Texas and in Florida and the Gulf Coast. But in agriculture classes we had to be aware of the "kissing bug" and sand flies which can transmit it to us while we were in the field. I went to a couple seminars about it and cases are on the rise. 😶

i was told by my doctor that i have a rare condition, tho I'm not sure how rare it is. essentially, the end of my femur started hollowing itself out. we found out about it when my knee swelled up with a lot of pain after a simple shopping trip. i went to the doctor and it was initially diagnosed as a knee sprain, but they did a routine x-ray alongside that ultimately detected it. was bounced to a hospital that mainly specializes in cancer around the start of COVID and i absolutely love my surgeon. he pushed my surgery up as urgent so i wouldn't break my leg and took very good care of me. i also have a "rare" condition called Ehlors Danlos Syndrome that makes my skin stretchy and joints are hyperflexible, along with some chronic pain and other things. my mom and sister also have it. I'm not convinced it's actually all that rare, tho, considering how many people I've met since that also have it or have symptoms. it's just really difficult to get anyone to diagnose you, despite it being a very easy task. despite all the people I've met, it's still rare enough that i have to educate just about everyone on it, including my doctors. my sister also had a type of cancer that's seen in older women, but she had it when she was fairly young. so it's not so much rare as it is incredibly rare for her age. she also has an extremely atypical expression of a thyroid condition, which took years to diagnose. she has other medical conditions as well, which we've been unable to diagnose as of right now. also, I'm not sure if thos counts, but i have very atypical reactions to drugs. sleep meds can make me feel more alert, caffeine makes me sleepy, and i shake and twitch fairly aggressively with dental anesthesia. I've actually been accused of being a drug addict because of the dental anesthesia. i rarely even take Tylenol or drink coffee. we just have a bunch of weird cases in my family

I have multiple rare diseases and I am sick of it.... Even with diagnosis, you dont get adequate help as either no one knows what youre talking about, or doesnt believe you. Median arcuate ligament syndrome (MALS) is my least favourite, as its very painful. But I also have Chiari malformation, Bow-Hunter syndrome, a splenic artery aneurysm, slipping rib syndrome, cranio-cervical instability, and retrolisthesis of my neck. And managed to catch murine typhus when I was 21. I could be forgetting a few, but I'm pretty sure those are the rare ones. They're most all due to Ehlers-Danlos Syndrome (EDS), and even though EDS isn't rare, it is rarely known!

Late to the video, but I myself have been having episodes of various very uncomfortable and annoying neurological stuff, and it happens very sporadicly, no pattern whatsoever, and the specialists at Vanderbilt have absolutely no idea what is going on, they can't pinpoint all of my symptoms to one thing. Its extremely frustrating.

That disease in the second story is also known as stoneman syndrome and it causes your body to mistakenly heal any and all injuries you receive into bone and people who have this disease eventually have make a choice on whether they'd rather be in a laying or sitting position for the rest of their lives because their bodies inevitability freeze permanently in place turning them into living statues

Cardiac nurse here! Met a lady in my ward who came in with chest pain, first ever cardiac related condition she had. You usually do a chest XRay routinely for someone with cardiac issues to check the size of the heart - low and behold, her heart was on the WRONG SIDE. Her heart was on the RIGHT of her chest, and she lived nearly 50 years without realising. It's a condition called Dextrocardia, and about 1% of the population has it. The woman did state her aunt died suddenly of a heart attack, and the post mortem did say her heart was positioned on the right. They always thought it was a typo! She inherited this condition! Also met a man who had a gene you shouldn't get where his body makes iron without consumption. Unfortunately that is dangerous. The gene hasn't been seen or needed for 10k years! And this dude had extensive genetic testing to find out why he was always having bleeding.

My grandson number 4 has just been diagnosed after 5 years with missing a major enzyme that all animals including humans have. There is no name for it yet and the prognosis is unknown. It is not genetic.

RU-vid- I'm not turning off my adblocker. If I can't find a way to block them anymore I'll leave. Test my resolve. All you're doing is making ad blockers better- thanks for that you cretins. Great vid.

I'm one of those rare patients, lol. I have Aquagenic Urticaria and the allergen specialist I went to said I was the only case he had saw in his entire career. (rural American midwest) and now I'm stuck fighting Medicaid because they decided to ship my heat-sensitive injections from out of state, something that sucks when the temperatures get as wonky as they do here. And considering only about 50 cases worldwide have been recorded of this condition, it is stupidly rare.

6:10 if something is 1 in 400k then theres only about 18k people IN THE WORLD with said desease, have to remember a lot of people do not get diagnosed and some regions have more or less of said disease so yeah its a estimate, still might sound that A LOT of people has it but 18k people for more than 8 bilion people in the world then you can understand why its a rare disease.

Medical person here!! You did an amazing job pronouncing 98% of that good job. Thank you so much.❤ absolutely great content!

Me. I have PANDAS / PANS I’m in the smaller PANS category where we don’t know what illness started it. Im setting up now to get a third round of IVIG and will be getting my third permacath in for Plasmapheresis. Nothing else seems to help in my case- other than doing ketamine infusions every few weeks to help with the depression and the brain inflammation.

1:02 A classmate of my parents had that. He got an arm amputated (that's where it started) in hopes of stopping it, but not too long after he needed a wheelchair to move around and IIRC died at the age of 16. Of course I don't know that story directly, but my parents told it to me a few times.

7:36 The laugh that came out of me was not okay. XD That said, you did a great job pronouncing most stuff! ouo)/ As a nursing student, the medical stuff is my favorite. lol

My mum has ankylosing spondylitis. Her spinal discs basically are growing bone between each other and fusing for no real reason.

That last story is so reassuring in a world where its far too common for doctors to dismiss patients claims because ‘they know better’. Doctors dont know everything, and listening to people with different life experiences from you can only help. They say if you hear hoofbeats think horses not zebras but that only applies in places without zebras

As a hobby i study medical issues and i know all of these and what the lingo they were using. I finally realized im not stupid and i am retaining what i study up on.

My little cousin is 5 years old and she has a condition called pcdh-19. She is missing her 19th chromosome. This causes a very rare form of epilepsy

My uncle has been diagnosed with Cerebral Amyloid Angiopathy Related Inflammation, alongside early onset Alzheimers at 59. Within 8 months, he has went from complete independence and normal function to forgetting family members' names, unable to read the time, struggling to form basic sentences, forgetting where he lives, forgetting how to drive a car, unable to count money and other things. My aunt has effectively lost her husband and become his full-time carer in less than 8 months, and it is heartbreaking to watch the uncle I've always known just fade away so quickly. It acts just like Dementia but it's so so quick. It's almost like every week he's losing another function or a memory. I don't wish this disease on my worst enemy because, unlike Dementia, my uncle is aware of his disease and understands what's going on but can't stop it. He has a dark shadow on his brain scan where the toxic proteins have built up and caused parts of his brain to die. There is no cure, and no treatment to help slow it down 😔

Wow, the human body is truly fascinating in how many ways it can fuck itself up. Goes to show you how complex and yet somehow well balanced biological life is.

My one year old kitten got diagnosed with disseminated histoplasmosis. It spread from his lungs to his spleen and his brain. He spent over a week in the ER. He ended up being prescribed prednisolone (steroid), itraconazole (antifungal), Keppra ( anticonvulsant), and albuterol (rescue inhaler). He will be on seizure and asthma medication likely for the rest of his life. Watching him struggle through treatment has been rough, I can imagine the treatment for humans is very similar in cost and lengthy.

I'm a nutritionist. Several years ago I treated a man that was very sick and cared for by his wife, so I knew the wife for a while . She was a thin woman with some speech difficulty due to a TIA in the past. At some point she was sent to see me due to an unexplained weight loss. Her food intake did not explain the issue, but I heard that her speech is much worse ( she also said it herself ) and she has some trouble chewing due to weak muscles. I asked does she feel any changes in other areas of her body regarding muscle weakness. She said yes, that she can't open bottles recently . and then she showed me that her shoulder muscles twitch on their own. Long story short I understood in 5 minutes that she had ALS. It was confirmed shortly after by a neurologist. Sadly she died less then a year later

It took me 15+ years just to get diagnosed with endometriosis I couldnt imagine actually having a rare disorder. Im glad these doctors cared enough to find the answers but I cant help but think of all the people who've fallen through the cracks.

That was a fascinating one without being to horrific. Thanks!

great job with your pronunciation, you did extremely well!

I have a family member with cardiac sarcoidosis. Sarcoidosis in and of itself is considered rare, but still is roughly 1 in 200,000 people. But my dad has it solely in his heart, which *is* extremely rare. Not just generally, but in sarcoidosis patients in general. Having sarcoidosis is most commonly found in the skin and liver, among other places. But only about 18% of patients with sarcoidosis have it in their heart. But even so, that is almost always paired with it in another organ as well. Having it solely in your heart is insanely rare, I think it’s like 2% of people with sarcoidosis. My dad randomly got sat next to a doctor familiar with sarcoidosis at an event and the doctor was so fascinated. He was telling my dad it was like a 1 in a few million chance to have just cardiac sarcoidosis!!

The pericardial sac is a fluid filled sac around the heart to prevent friction while the heart is pumping. This sac is actually a milkier looking translucent color that sticks tightly to the heart of cadavers. Yes. I have dissected a heart before.

I have a disease called KLA (Kaposiform Lymphangiomatosis). I am the 8th person to ever be diagnosed with it, and I have been on chemo since June 2020 when I got diagnosed. It causes me a lot of bone/back pain. I may have to be on chemo for the rest of my life. It is hard for me to look forward in life at times because there is no known cure for it, and I always feel bad. I got diagnosed when I was 16, and now I am 20. I missed a lot of my Junior and Senior years of HS. Lots of my “friends” turned on me because I could not keep up with them due to me being on chemo.

Almost 20 years ago now, my dad had symptoms of a cold and a lot of hoarseness that just wouldn't go away. Went to the doctor several times, doctor couldn't find anything. Eventually had some biopsies taken in his neck as a bump had appeared there, but all the biopsies were negative. However, he wasn't getting any better, he was only starting to feel worse. Doctor kept convincing my mom that it wasn't cancer, as the biopsies were all negative and it was probably something minor and would go away eventually. Scans, MRI's, you name it, nothing showed anything. He was sent to a specialist after some time, he also took some time to get back to us, but when he did he started off with "If this is what I think it is, then you are standing at the beginning of a long journey of suffering, for which there is most likely no cure." It turned out that he had an extremely aggressive form of thyroid cancer, and at the time it was so rare that the doctors and specialists had only seen it in books a handful of times. The bump in his neck was a mass the size of a tennisball. He died 3 months after they discovered it.

Operating room nurse here, I work on the surgical oncology team at my hospital and I have seen this phenomenon twice, (not sure exactly how rare it is) pseudomyxoma peritonei, otherwise known as “jelly belly”. It’s a type of cancer where the tumor is made up of a gelatinous substance called mucin and can come from cancers of the appendix, ovaries, or colon. Never fun to see for the patient’s sake and it’s always heartbreaking to see it when we open a patient up for surgery.

I have a younger cousin with Angelman syndrome. He cannot live independently even as an adult, and sadly my uncle who was his main caretaker, was killed in a motorcycle accident a couple of years ago. We miss him everyday, but my cousin is 29 and still doing well.

A person in my family had an eye disease no name, but only 9 people have had this. Cause? Unknown but most likely weed killer round-up.

Okay, but why did this make my head actually hurt, like physical pain 😃

I once had Eosinophilic esophagitis or (EE). It’s when your esophagus becomes inflamed and doesn’t contract whenever you eat something you are allergic to. I used to be allergic to Milk and Eggs. I vomited every time I ate food that contained them and my throat burns. I was in and out of the hospital from ages 4 up until I had surgery at 8. 1 in 1,000 patients were diagnosed annually.

I was a patient (I'm telling thid story from my parents perspective). I was between the ages of 3 and 5, and one day I got this baseball sized, hard lump on my forhead, followed by extreme tiredness. My mom and dad took me to the doctor thinking I may have bumped my head and got a concussion. The doctor says "No, it's not a concussion. He also has a very high fever." He booked me into his clinic and gave me antibiotics and pain and fever medicine. It didn't work. He tried some other medicine, it didn't work. He tried something else and it still didn't work. My condition only got worse so he sent me to a private hospital. Then he said: "I don't know what he has, but we're going to try something." He checked me for a tick bite but found no tick bite marks on my body. Unsure of what else to do, he told my parents "I'm sorry to say, but if tick bite medicine doesn't work, then prepare to say goodbye to your son." He tried tick bite medication and thankfully, it worked. Until today, nobody, not even the nurses and doctors at the private hospital knows what I had, since again, no tick bite marks. All I know is that I could have died before I even went to pre-primary school

Vet student here, spot on with the pronunciation of leishmaniasis

I am that patient. I have mitochondrial disease, which is semi-rare, and when I had to go in for my first treatment the doctor I saw said that he had only seen one case of mitochondrial disease like mine before, but he would not listen to the treatment plan set for me by my neurologist. One of the specialties that my neurologist has is mitochondrial disease and gave an order for an IV cocktail with numerous vitamins and medications to be administered for 36 hours, the doctor who had only seen one case of my condition said that it was too much and would only give my two hours worth of the treatment my neurologist recommended, which only helped me for about 12 hours and I was back in the hospital the next day to receive the proper treatment recommended by my neurologist. It was a very bad experience, if you're a doctor who has to deal with a patient with a rare condition you've never/hardly ever seen before, listen to the recommendations of the patients regular specialized doctor who has a specialty in said condition, it will save your patient a lot of suffering and anger.😤

9:06 you’ve got the Dr Gregory House mindset 😂

Former nurse here. Charcot-Marie-Tooth syndrome. I had been a nurse for about 6 minutes and was doing my first solo admission on the med Surg floor. I was told by the ER that he had severe nausea and vomiting x 3 days, NG inserted, staying overnight for observation and that's about it. Easy-peasy, new girl gets this one. Wrong. He was a 30 year old male but he had to use a walker to transfer, severe foot drop. I'm confused immediately. He tells me he has CMT, it's a genetic thing that runs in his family and I told him I'd never heard of it and he rolled his eyes at me. Or at least that's what I thought was happening, turns out he had started having a seizure. First one of those I'd ever seen either. I'm standing there, frozen with my mouth hanging open and I look down and he was bleeding everywhere, he ripped out his IV before he even got in the bed. I did NOT lower the bed, I did NOT put up the side rails, I left him ALONE in the room and ran out in the hallway to get some help (luckily an ICU nurse just happened to be there and came to help me and waited until after the dust settled to rip my ass). She started a new IV, he got some Ativan and eventually I got to finish his admission. CMT is a genetic disorder that affects both the motor and sensory nerves in the extremities, lots of pain and trouble getting around. Turns out, he had been on Tramadol to manage his pain but hadn't been able to keep any down for 3 days because of the nausea/vomiting (I can't remember what caused the N/V in the first place, maybe an obstruction?) and had a seizure from withdrawal. I didn't cry until I got to my car that night, which I'm proud of. I was terrified to walk in the next morning and I thought all the patients were going to have all these rare diseases I'd never heard of before. Nope, just awesome beginners luck lmao.

Alright, I’m and RN but this is a personal story so I can actually giver personal details. My dad works in the oil patch, he does heavy duty mechanics and does engine work- so he’s often in the shacks. This means he often gets pretty sick in the spring. So in spring 2021, he got what we thought was his normal pneumonia, and he was struggling to breathe. It got really bad, so he went to ED. On physical inspection they noted that his heart couldn’t be heard with a stethoscope- alarming right? So anyway they x-ray his chest and the whole area around his heart - the pericardium- is solid white and MASSIVE, this means it’s full of fluid. Our local hospital is lovely but doesn’t have an ICU so he has to be flown to a larger hospital 3 hours away. He is diagnosed with Cardiac Tamponade which is when there is too much fluid in the pericardium, he had so much fluid in his pericardium that his heart was struggling to beat, if it had stopped CPR would not have helped/ would have been really hard. So they tap his pericardium to draw out some of the fluid it’s about 1.5L of blood, and they’re concerned as to how it got there. So they send it for pathology, it comes back positive for Histoplasmosis. We live in a fairly cold environment so this is incredibly unlikely, they run it again, still histoplasmosis. Histoplasmosis is typically more tropical/warmer fungal infection. Infectious disease is literally on my dad getting angry asking why didn’t disclose he had been out of country, because he hadn’t… jt was the bats. It’s endemic to our bat population, which my dad encountered at work.

My middle daughter was incredibly unlucky, having not 1, but 2 genetic disorders. The first was when she was diagnosed with pyloric stenosis at a month old. Only 1 in 1000 live births have the disorder, and only 1 in 200 cases is a girl because girls have to get the gene from both parents to develop the disorder, but boys only have to get the gene from 1 parent. Then when she was 13 or 14 her uncle was diagnosed with hemochromatosis so we had our kids tested. Guess which one has it. Normally hemochromatosis is only diagnosed after the build up of iron damages the internal organs in the 40s or 50s. We asked if this could be connected to the liver problems she had a couple of years earlier. We were told it could if she got the gene from both parents. No, my ex and I are not related to each other

You pronunciation is impressively accurate most of the time! You may have more of a head for medicine than you realize :)

I'm not a doctor but I ended up with a rare condition. Cauda equina syndrome, they estimate that it affect 1 in 33,000 or 100,000 but there isn't enough data to really tell them, it also hasn't been studied enough to know the long term outlook for patients looks like

My younger sister has Osteogenesis Imperfecta which occurs in 1 in 20,000 live births. There are 19 types of Osteogenesis Imperfecta. After genetic testing/sequencing she has a brand new strain/type they have NEVER seen before.

Williams syndrome kids are so sweet. I worked at a summer camp for kids with disabilities of all kinds. The two kids I usually worked with had fragile X syndrome and williams syndrome. They absolutely loved music. There is a very good program called mind traveller hosted by amazing neurologist and writer named Oliver Sacks where he meets folks with various neurological disorders. But yeah, WS kiddies are awesome to know. Lesch-Nyhan syndrome is just freaky. One of the kiddos at the summer camp had to have teeth removed to keep the boy from biting himself. It’s really sad because those kids don’t want to self mutilate but have absolutely no control over the behavior. It’s really creepy. Parents say they can see the confusion when the kid is biting because it hurts but they can’t not do it. There have been kids who have bitten their bottom lip, fingers and toes off because of the disease.

When I worked for the red cross, I had to take care of a teenager with a genetic defect that comes from a deletion on one of the chromosomes. I was told that many defects only appear in boys because they are more likely to survive difficult pregnancies.. This particular defects severely limits the motion of the arms, there is no knee cap formed, a few ligaments are completely absent in the knees and arms and there's fewer carpal bones. To top it all off, the humerus (upper arm bone) and the femur (upper leg bone) are more or less s-shaped. There are 7 people with that syndrome worldwide (that we know of). This guy just graduated with highest grades and while he wasn't able to hold his degree over head height, he was able to walk there thanks to some surgeries and orthotics. He'll get surgery at 21 to replace his elbow joints with artificial joints, after that he's expected to get a full range of motion.

"doctor word make brain go off" - wise words

One of the kids that I used to teach has Williams syndrome and he was always the most enthusiastic kid when he came into class and was always trying to make friends with new kids and help them find their way around the classes. Unfortunately with kids being the judgmental little demons they are would constantly try to avoid him but he never let that get to him

I have a genetic disorder. It's thought that 25% of the population has it, but it's the most undiagnosed disorder ever. My grandmother died of it, I was in the phone with my grandfather when he was informed and he handed the dr the phone, so I got to hear the dr repeatedly apologize to my for not diagnosing the disorder. He kept saying if he hand known she was first generation American, he hadn't considered, her actual disorder. But they know now that it's not a strictly European disorder. Still, even if you do manage to get diagnosed, most drs don't know how to treat it or track it. It's not exactly negligence, but it's institutional indifference

This is a cool subject category for an episode. 👍 Though now feeling slightly like a hypochondriac, lol

Bud, you are doing growth the pronunciations! Keep on truckin' man!

I have amelogenesis imperfecta. the short description is: My teeth don't form proper enamel so no matter what I do, my teeth will slowly crumble apart. And its exactly as unpleasant as it sounds. There's no cure for it. There are cosmetic treatments, but they are just delaying the inevitable.

That second one is nicknamed "Stone Man Syndrome." I briefly met someone who had that, and she told me (correctly) she would probably be the only person I ever met with that condition. She had some hopeful words, though; she said that researchers were getting very close to finding a cure. I sure hope so; it sounds terrible to live with.

My mother's death was rare as nobody has (to our knowledge) their entire spine being involved in a stroke. Even the GP said he had never seen it before.

I have Myalgic Encephalomyopathy which is often called Chronic Fatigue Syndrome. But Fatigue is only a tiny fraction of the issues this damn syndrome causes... some of us are bed-bound and even die from it. There is no cure and no-one knows what causes it. Your body gets sick and never really truly gets better. But, we all do the best we can to support each other. It's not the rarest thing, a lot of people are probably misdiagnosed with something else! But it certainly is hard when doctors here in the US look at you like they have no clue what you're talking about.

Spot-on pronunciations, so fear not. Props, in fact.

It is fascinating that Angelman's and Prater Willie are genetically related. I've worked as a direct care staff for people with both back in the 90's. The girl with Angelmans was so sweet. Her mother was awful. A lobbyist who couldn't handle looking at her little genetic "accident" so she put her in a facility, refusing to allow the grandparents to care for her at home. The mother had the money to hire in home 24 hour care. But she didn't want to. The kid with Prater Willie was sweet and funny. Until he wasn't. His behaviors involved getting violent and self harm and blood and feces. Those two kids should never have been in the same home. The 90's seem like the dark ages now and we still have light years to go until were able to understand and treat these disorders with dignity and respect.

I think I may have commented here a while ago, but can't find it. My daughter befuddled a dr. with a case of bullous pemphigoid. It is an autoimmune disorder of the skin (subcutaneous, I think) where blisters form and grow quite large and are very painful. What made her doctor go "hmm" instead of "ah ha!" was b.p. is associated with the elderly, bedridden folks, not a healthy 23 year old. It is very rare for someone that young to have that show up. He had to go to his computer to verify what he suspected.

I have a rare disease named Pulmonary Arterial Hypertension. About 50,000-70,000 people have it. My artery to my lungs is under Hypertension and there is no known cure. I have specialized care and cannot be treated by normal means

This is almost as good as my favorite TV show, Mystery Diagnosis ❤

8:27 Omg hereditary evil raiser syndrome from evillious chronicles 😱😱😱😱😱😱😱🤯🤯🤯🤯🤯🤯🤯🤯🤯😲😲😲😮😮😮😮 /j

4th year med student already seen: -Stress cardiomyopathy AKA Takotsubo cardiomyopathy (tragic backstory) -Munchausen (now called Factitious disorder, hard as heck to diagnose cuz docs never want to miss another non-psych disease but this pt was observed deliberately contaminating a wound) -Bechets (along with several other autoimmune conditions in a single, previously healthy pt who was now very ill) -Duchennes muscular dystrophy (very brave kid, will never forget) -Cadmium poisoning at first mistaken for early onset dementia -Autoimmune encephalopathy -Schizoid personality (pt was in hospital for an unrelated heart disease and psych got consulted. They were totally happy and nice, they just didn’t care to if they didn’t have to! Big fan of Love Hina lol) While writing this im starting to wonder if I’m a black cloud or if “rare” stuff isn’t actually that rare. Ps- great pronounciation!!!

My mum got addison's disease at a young age (normally it happens passed 30. She was only 13). Nearly died because they couldn’t work it out. But her Nan mention her symptoms were like another family member. She’s now 70, and if she gets a bad day she’ll have some salty water. When I was growing up she’d hide it if a friend was around as not to weird them out. But we have nipped into a chippy a few times for some salt if she’s in need. When you’ve grown up with unwell family it isn’t weird. Heck a lot of my family dad side is diabetic, so also done the mad dash for some sugar if needed.

one of my classmates had stunned her doctor when a scan showed that she has four kidneys. three isnt an entirely abnormal condition but four is highly unlikely

Obligatory not a doctor, but I have a condition called Multiple Hereditary Osteochondromatosis - which is characterized as spur-like (usually benign) bone tumours that grow on long bones. It happens to 1 in 50,000 people, with a 5:1 ratio men to women. It's not something you're born with, it develops as you grow. If not removed, there is a chance in adulthood the spurs could become Osteosarcomas (bone cancer). I had the ones on my legs removed as a child as they caused me issues, but I still have the ones on my ankles. These have been checked and are thankfully still benign. Pretty interesting though!

patient here - i would be my hematologist/oncologist's rarest encounter. y'all don't need the full story, but i had super severe aplastic anemia, which is about 1 in a million. you can look it up for more info, but in short, it's a blood disorder caused by bone marrow failure.

12:15 it is not really an intentional workaround by he body to have a gastrointestinal bleeding, it was a convenient solution though. bloodletting would be the regular treatment in this case.

Regarding the pipeline in Story 4, I’m surprised nobody with Klinefelter’s or Turner syndrome crashed it first

I have Muckle-Wells Syndrome, which is 1 in 1, 000, 000 and has caused multiple doctors fight over who gets to have me as their patient lol

As someone who has a weird fascination with rare diseases as soon as I heard FOP, I immediately knew and was kinda hoping it’d show up in this video. If you have a weak stomach do NOT look up X-rays.

My grandson has SSBP3 mutation. Its a genitic disorder where his dna just unravels. There is no current treatment.