Doctors Break Down The Rarest Thing They've Ever Diagnosed


Once in a lifetime....

Anyone who has watched 'Grey's Anatomy and ER' knows there are diseases that only God seems to know about. Often times we hear these long words strung together by letters that sound like a made up language, but it's definition can kill you. How is that for laughs? Sometimes we can't even pronounce our killer's name. Doctors come across the rarest of the world renown rare infections on the regular. Just listen closer to Dr. Meredith Grey, she'll keep you updated.

Redditor u/YaggaYeetus wanted all the doctors to chat with us about some of the medical issues we should discuss by asking.... Doctors of Reddit, what's the rarest thing you've diagnosed/treated?


Happy Ice Cream GIF by moodman Giphy

Addiction to dirt without nutritional deficits. Drove by recently excavated construction sites and say "MMMMM." Agreed to eat sterilized potting soil as a compromise. Sent case notes to CDC with her permission.


Going Blind....

NAD, but I am one of the reasons that the migraine medication Topamax has the blindness warning on it now. Somehow I was one of the first documented cases where someone lost their vision because of it. Thankfully mine came back all the way over the course of a year or so. Some people aren't as lucky.

I ended up as a case study in a few different journals and text books. For that and for my rare rib cage deformity. (The sides cave in. I basically have rib pockets.)

Note: Interestingly enough, I read a footnote about myself in a textbook while studying psychopharmacology during my undergraduate neuropsychology studies.


80 Milion +

I'm not a doctor but work in cancer care. Rarest diagnosis was a woman with breast implant-associated ALCL. Affects around 80 per million people who have had breast implants. Woman had implants post breast cancer if I remember correctly, which then gave her lymphoma.

Implants came out but I don't know if she had some others put on later, I only kept up with the case as far as diagnosis.

I remember the case specifically because it was under investigation from the breast team for over a month but then when the diagnosis was lymphoma, but we (hematology team) took the 'hit' to our cancer waiting time time-frame and had to answer to managers for missing targets.


Sad Day...

My dad's an OBGYN. He's had a myriad of irregular cases over the last 30 years. His rarest was a child born without lungs when he was a resident. Sadly it perished. I can't imagine any preventative measures that could be taken after birth. And it not being my dad's patient (he was a resident) I don't know what could've signaled the irregularity.



Run Over Reaction GIF by moodman Giphy

During my nursing clinical I took care of a little boy with an extremely rare disease.

Him and his brother both had it and they were the only documented case of siblings having the disease in the world. I went and found the research study which mentioned them. It was really interesting and it was cool to be able to put a face to it. It must have been surreal reading about yourself!


At 29....

I'm not a doctor but I get to meet all the student doctors because I gave myself a stroke from vomiting too hard and giving myself a vertebral arterial dissection. At 29.

The stroke caused memory issues so I can't tell you for sure there have been students every time (probably not), but I've met a lot of them and told the story many times. I think it entertains my doctors.



I don't have a doctorate, but am rather a mental health clinician. I worked with a 9 year old girl who had been through every mental health treatment available just shy of being institutionalized since the age of 3 when she experienced abuse and neglect at the hands of a daycare provider. Every doctor and clinician she graced with her presence was frustrated and perplexed as she failed to respond to trauma focused treatments despite everyone's best efforts, hers especially.

It wasn't until I was vaguely consulting on the case with some community volunteers that one mentioned an obscure medical condition called PANDAS - caused by undiagnosed streptococcus virus that manifests in the brain causing symptoms like aggression, obsessive compulsive behaviors, and attachment anxiety with caregivers. Symptoms matched, age of onset matched, and the trauma at the daycare was just an unfortunate coincidence. Blood tests confirmed.



I have a very rare genetic disorder called erythropeioetic protoporphyria. It means I'm allergic to UV rays. I lack the genetic that produce something called Prophyrins. They help divide the good from the bad in the UV rays when it reaches my blood. Causing a toxic reaction. It can cause liver failure and gallbladder problems. The effected area in my skin will severely swell and cause extreme amounts of pain. it can take weeks to months to recover from a reaction.


Say What?

Confused What Is It GIF by Nebraska Humane Society Giphy

Rarest thing I think I diagnosed is pseudopseudohypoparathyroidism. I was laughed at by other physicians when I raised this crazy diagnosis in a 7 year old girl with a bony foot mass and a short 4th digit in her hand. Those two clues raise the possibility of this rare syndromic illness, and this time I got it right.



Just recently in my country a man was declared not guilty of drunk driving because he was diagnosed (after an accident where he blew above the limit) with auto-brewery syndrome where your body turns carbs into alcohol by itself. The man claimed he hadn't had a drink and because of his syndrome the prosecutor couldn't proof his blood alcohol level was the result of actually consuming alcohol.


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