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

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[@arandomzenitsufan]

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

[@killersaxsolo]

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.

[@shlubjohnson4687]

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.

[@LadyLithias]

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!

[@3frenchhens818]

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?

[@karenlloyd945]

Please don't use this background graphics again. It made me feel sick & it would cause a fit if my grandson ever watched this! Otherwise it was an interesting one

[@MaddysinLeigh]

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.

[@cindykq8086]

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.

[@katebarker5612]

The background is terrible, so distracting because of the erratic movements

[@csi2000]

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

[@ruthsmithwade7955]

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.

[@lavender9844]

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

[@runningfromabear8354]

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.

[@bforman1300]

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.

[@wolfie5499]

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😅

[@joaobarros6744]

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.

[@jefthereaper]

"What is the rarest disease you've ever encountered?"

[@ToastyNoneofyourbusiness]

7:08

[@michaelmosier5627]

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.😢

[@samstevens9903]

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.