Doctors Share The Rarest Disease They Have Ever Diagnosed And How They Figured It Out

A doctor’s job is to keep people alive and well. However, that’s not always the easiest task. Even after years and years of medical school, residency, internships, and on-the-job experience, sometimes certain ailments just baffle doctors. Much of the reason for this is because there are many rare diseases out there that doctors just don’t come across very often. As medical technology advances, less and less medical mysteries remain unsolved, but that doesn’t mean doctors don’t have to rack their brains to figure out diagnoses nonetheless. Medical technology and machines can’t solve everything, after all. Without a doctor’s expertise, they would not know which tests to give to ultimately figure out what is going on with a patient.

Here are doctors from around the world sharing some of the rarest conditions they’ve ever seen in a patient, and how they reached the diagnosis. Actually, not all of these stories are from doctors; some are from medical students, residents, pharmacists, and nurses, which just goes to show that when medical professionals at all levels put their brains together, some pretty amazing things can result, like saving people’s lives. Sometimes, doctors and their staff just have to take some stabs in the dark when they can’t figure out what a patient has in order to help them, or at the very least, solve the mystery.

42. The Baby Sounded Like A Cat And That Said It All 

“6-month-old baby not getting bigger and dropping off the growth charts. The baby wouldn’t move and would cry all day long. I couldn’t figure it out. I was making preparations to transfer the baby to the university hospital for admission. One of the clinic nurses commented that the baby’s cry sounded like a cat. Ding, a bell went off in my head. Cri-du-chat syndrome or Cat’s Cry Syndrome. Very rare. I looked it up and the baby had a high probability of having it. I referred her to genetics and they confirmed it.

The attending called me and marveled at my clinical skills. I chuckled and told him the nurse diagnosed it. Good news, the baby had a small deletion of the 5p chromosome and managed to stay somewhat healthy and functional.” stheonlyone

Cat’s Cry Syndrome is a chromosomal defect in which an infant is missing a piece of chromosome 5. Infants who have this illness often sound like a cat when they’re crying.
41. One Man Goes From Sweet To Inappropriate Really Quickly 

“I’m at a big tertiary hospital and had an elderly veteran brought to us one day after being found unconscious in a park.

He had alcohol in his system and a quick look at his records showed that this was an ongoing problem with him. He was a sweet old man who was very grateful for our help, up until day 3 of his hospitalization. He developed pneumonia-like symptoms and became somnolent for a few days. Then, out of nowhere, he became very inappropriate—he begins grabbing the nurses and propositioning them, and constantly licking his lips in an inappropriate manner when anyone even looked at him. He went from a sweet old man to a sexual deviant almost overnight. We even had to restrain his hands to stop him from touching himself and others.

Oddly though, he hit on anyone and everyone (women and men) except for me. I guess I wasn’t his type. Funny. We ended up diagnosing him with Kluver-Bucy syndrome, caused by HSV encephalitis (herpes); symptoms include hypersexuality and hyperorality. It’s pretty rare and I haven’t seen it since, but as you might imagine, it left a lasting impression on me. He improved with treatment though and was incredibly embarrassed after finding out what he had done.” DrTapioca
40. A Rat Bite Made Everything Go Wrong 

“When I was on peds ID, we had a young girl come in with a rash on the bottom of her feet.

She was also having headaches and joint pains. We spent close to an hour interviewing the girl and the mother. Her history was essentially negative. Finally, as a last ditch effort, I pulled out the weird questions you ask in med school. I asked if they had any unusual pets, as we had already ruled out normal pets. They said actually they did just return a pet rat for biting her. They thought that this wasn’t really relevant. Bam! Rat bite fever.” psilord34

For those who don’t know, rat bite fever is a disease caused by bacteria transmitted by rodents. Some of the symptoms include headaches, fever, chills, vomiting, and sore throat.

39.  A Chest X-Ray Saved A Child’s Life

“Wolman Disease. A genetic disease that affects about 1/200,000 kids, terrible outcome.

It leads to calcification of the adrenal glands which is how I picked it up on a chest x-ray on call (I’m a radiologist). The kid had a failure to thrive and a big spleen, so I brought it up. He got further testing which confirmed the diagnosis.

Bottom line, don’t forget to look at the adrenals or ribs on peds x-rays!!! You’ll miss Wolman Disease.” Proxyfloxacin

 38. All Of This Man’s Symptoms Pointed To The Wrong Disease

“It was 1983, less than a year after the term AIDS had been coined, and understanding of the nature of the infection was still in its infancy.

I was a third-year medical student doing my Internal Medicine rotation, and a 30-year-old intravenous drug user was admitted to our team, and I was the medical student assigned to work-up the admission. He was extremely skinny and had a history of a 40 lb weight loss over the past several months, a persistent cough, shortness of breath, night sweats, and on exam had significantly enlarged lymph nodes in his neck, armpits and groin, and several dime-sized reddish-purple lesions on his legs as well as a darkish lesion on his hard palate. His chest X-ray showed a diffuse bilateral infiltrates. He was in moderate respiratory distress and was started on oxygen.

The hospital was abuzz with the news of this patient.

The next morning the Chief of Medicine (Dr. Eugene Braunwald; yes that Braunwald) decided to accompany our team on rounds, so the resident decided to present the case rather than leaving it to me as would usually be the case on morning rounds. The resident presented the case, and the Chief of Medicine asked him his diagnosis, to which the resident replied ‘AIDS.’ Dr. Braunwald went around the team (the team’s attending, the Chief Resident, the other residents, the other medical students), and they all excitedly agreed. He then turned to me and asked if I agreed.

‘Well, my differential diagnosis is AIDS or Intravenous Talcosis.’

Laughter around the team as Dr. Braunwald raised an eyebrow and asked why I thought Intravenous Talcosis, which is a pulmonary disorder caused by talc, and often the result of injecting drugs meant to be taken orally (talc is present in many tablets and capsules that are used intravenously, such as benzodiazepines, dextroamphetamine, and prescription opioids).

I replied: ‘Well, my understanding was that a differential diagnosis needs to include more than one option, or it isn’t differential, so if it isn’t AIDS, then intravenous talcosis is the only other thing that I can think of that would pull together all of the findings, except maybe the spots on his legs and hard palate, and in talking with the patient, I found out that the intravenous drugs he uses are often crushed pills, which can be a source of talc.’

Dr.Braunwald nodded (while the rest of the team rolled their eyes or chuckled) and the Chief proceeded to examine the patient, and then the team formulated a plan for diagnostic tests. Tests came back positive for Tuberculosis, and negative for Pneumocystis (a life-threatening lung disease), and the lymph nodes were biopsied and bronchoscopy was done. The node biopsies were positive for everything that would be in line with my differential diagnosis of Intravenous Talcosis.
The patient was diagnosed with Intravenous Talcosis and Mycobacterium Tuberculosis, treated and recovered fully other than some mild decreases in pulmonary function tests, and I ended up with a nice letter of recommendation from Dr. Braunwald!

David M Joseph

37. His Limbs Were About To Give Up On Him 

“This was in the ICU. A few years back. Sunday duty and a busy one. This is important because it signifies the lack of helping hands on a day off in hospitals and how dangerous it actually is. My memory gets a little hazy but this is the brief:

A day prior, a middle-aged man had been admitted with severe pain in his lower limbs. The pain was severe but everything else seemed in place. By that I mean, the basic blood investigations and the ECG. No history of trauma and no history of backache.

I specifically asked him. Nothing. Just hypertension, I think. The neurosurgeon had admitted him to the ICU as it was the weekend and ward was the last place where he wanted a sick patient, simply because he would be called incessantly by the nurse. Let’s never forget that it’s a third world country we are dealing with here. Hence the ICU admission. He considered it a neuropathy and had prescribed pain killers. But as the day progressed his pain was worsening and it was completely unresponsive to any kind of medication. Extremely unlikely and it had my alarm bells ringing.

But with 20 other patients, most of whom were on the ventilator, time had been a constraint.

But I managed to call up the neurologist by noon to discuss this case because something did not seem right. I gave him a detailed history and asked for something I was missing. He mentioned a few more tests and asked me to just check his peripheral pulses. He was much more approachable and so much less cocky than the neurosurgeon. I immediately went up to the patient and checked. He had absent pulses on the foot. I went up. Nothing. No pulses in the knee fold. Went up. No pulses in the groin area bilaterally (meaning on both sides). I double-checked.

Triple checked. Prayed for a feeble thug. Anything. Nothing. I asked my nurse to check as I am never too sure of myself. Nothing. An absent single pulse is an emergency. Here I couldn’t find multiple, bilaterally. I was starting to panic now. What I also knew was this went way beyond my area of expertise and it was a bloody emergency.

I immediately called up my seniors and the primary surgeon and meanwhile booked him for an urgent CT Angio (a detailed x-ray of the heart and the blood vessels that lead to the heart, brain, lungs, kidneys, head, legs, arms, and neck).

The limbs were cold but still pink. The result came back. It was a thrombus cutting off the Aorta. So, there were parts of his blood vessels that were blocked off and therefore blood wasn’t running to his limbs. Thankfully a few extra arteries had cropped up so the limbs had survived the onslaught. The human body is the most magnificent, wonderous machine in the world. The patient was referred to PGI for vascular surgery as the surgery was one of the toughest and done in specific centers only.” Neetika Sahai

36. Good On This Medical Student For Identifying A Rare Tick-Borne Illness

“As a third-year medical student, I was on internal medicine rotation for two months.

The first month was at the VA hospital. I was on Gold Team which happened to be staffed by an Infectious Disease Attending. We had our normal group of veteran patients admitted with a hodgepodge of liver failure, GI bleeding, heart disease, and emphysema. We also did some consulting on potential infection patients as well. We were asked to see a patient for a consult who was in the ICU and not doing well. He had been on the ventilator for a day and was declining.

I went ahead of the team to see him and he had been admitted for fever and headache.

He had a negative spinal tap, so meningitis was ruled out. While in the hospital he had intermittent high fevers and vasculitis (inflamed blood vessels). He developed a rash all over his body. As I was puzzling over the presentation, my attending and the team came up to the bedside. I presented the case while standing beside the patient’s bed and after all the facts were presented and labs discussed I was asked to present the exam findings. I noted the rash was also inside the mouth and on the palms and soles of the feet. We then discussed differential diagnoses.

Several good thoughts were presented: ITP, secondary syphilis, and Kawasaki Syndrome were mentioned. The attending asked me what I thought and I hesitantly offered ‘Rocky Mountain Spotted Fever.’ There was a pregnant pause then the attending said: ‘Order a titer and doxycycline.’ After two doses of antibiotics, he was dramatically improved. The patient was discharged just a few days later.

I never forgot that case and just how ill a tick-borne illness can make you. It’s not all that uncommon of a diagnosis where I come from, but it was my first and most memorable.” Robert Frantz

35. Doctor Uses Wife To Diagnose Husband’s Prostate Cancer 

“I am in Internal Medicine.

A mid-40’s female patient of mine has an appointment to discuss bleeding down below after intercourse. She has had a hysterectomy and so had no periods. She was, of course, concerned about some sort of a cancerous process, especially since there was no pain or discomfort when she noticed the bleeding.

Full work-up, she’s perfectly healthy. We have a mystery! Once she is cleared, I ask about her husband. I tell her to have him stimulate himself and report back to me. Lo and behold, he found blood.

Now, I’ve seen posts about hemospermia (blood in the discharge), so don’t freak out if you’ve had it before.

It’s actually not that unusual. But in RARE cases, it can be a sign of underlying prostate cancer. In this case, we did eventually diagnose prostate cancer in this upper 40’s male. He had his surgery and is doing well today.

My father was in medicine and he used to talk about the elation when he would diagnose something that other doctors missed. That feeling was short-lived, replaced by that feeling of ‘Oh no!’ when you realize your patient has a life-threatening illness. It’s an odd profession we’re in.” Doc-in-a-box

34. This Woman Was Bleeding Around Her Brain, But Her Husband Didn’t Believe Her 

“I am an anesthesiologist now but was a doctor in charge of a small rural hospital in India about 20 years ago.

An elderly lady was brought to the hospital by an irate husband who felt she was faking an illness. She would lie in a room all day with doors and windows shut and complained of a headache. She refused to do housework or look after the kids. Other doctors who had seen her before me had treated her for pain with no improvement. I examined the patient who complained of a severe headache and just wanted to lie down, and refused to open her eyes. I admitted her to the hospital and performed CSF tap (a needle into the lumbar spine to get a sample of fluid surrounding the spinal cord).

As expected, it was tinged yellow (cerebrospinal fluid should be clear). She was diagnosed with subarachnoid hemorrhage (bleeding around the brain). These days we have CT scans to diagnose, but it was a difficult diagnosis once upon a time.” drdeepakjoseph

33. His Mom Was The One Making Him Sick 

“When I was an intern, we had a 22-year-old man with persistent abdominal pain, all studies negative. His symptoms were unexplained. His mother was constantly at his bedside and his medical history, which was extensive, according to his mom, included multiple hospital stays with no definitive diagnosis. I noticed that he would frequently take ill after meals, which his mother brought from outside the hospital.

It eventually became clear that he was a victim of Munchausen by proxy. Munchausen is a factitious disorder imposed on one’s self, a kind of mental illness in which a person repeatedly acts as if he or she has a physical or mental disorder when, in truth, he or she has caused the symptoms (however in this case, it was his mom causing the symptoms). His mother was making him ill by the food she was bringing in for him. I’d had a patient with Munchausen’s when I was in medical school (she was injecting her own feces into her IV), so I was particularly tuned in.

Both cases were very sad.” Milesman1971
32. Brain-Eating Amoeba Almost Took This Young Girl’s Life 

“We had a case a couple of years ago that still gives me chills whenever I think about it. Younger girl goes to her primary care physician in a small town outside of the bigger city where I live, complains of persistent headaches which just started a few days ago. No past medical history of anything similar or really anything at all about her that stood out as relevant. Unable to diagnose or treat her headaches (which were rapidly growing more severe), she was sent to our hospital (state’s Children’s’ Hospital) for evaluation.

We ran her through the typical gauntlet of testing for common causes, CBC/CMB/CT/MRI, etc, still with no clue. Nothing came up on blood cultures either. At this point, she was in the Pediatric-ICU rapidly deteriorating, with high fevers and periodic losses of consciousness. After eliminating all the horses, we had to start looking for zebras…and quick.

We collected a sample for culture thinking it might be one of the rarer forms of bacterial meningitis. While this was cooking (cultures usually take at least a few days) we tried again to get any other possible info from her parents. For the first time, they mentioned that they had visited a local waterpark a week or two before the girl’s symptoms started, and this was in the middle of summer.

For any Peds doctor, or especially ID doctor in the room, those words made their hearts sink. Sure enough, the cultures came back, positive for Naegleria fowleri, the pathogen responsible for Primary Amoebic Meningoencephalitis (PAM), a rare and devastating infection of the brain. Up until that point, I don’t think there was a documented case of a patient being diagnosed with PAM who survived. It’s the incurable brain-eating amoeba that lives in warm stagnant water and can enter through the nose if the patient gets water up there, which happens all the time at waterparks.
Anyway, long story short, we basically cook up a (very non-FDA-approved) drug cocktail as a sort of hail mary attempt at fighting this infection, as nothing else in any other case had ever worked.

In addition to this, we basically stick her in a Mr. Freeze chamber, lowering her body temp to below what N. fowleri can usually survive. Unfortunately, most people can’t survive it. But for some reason, (though in an induced coma the whole time) she steadily improved. When we took her out of the deep freeze and allowed her to wake up, it was incredible. She was alive with no apparent neuro/cognitive deficits, and the new cultures showed no growth of N. fowleri. It’s not too hard to figure out where this occurred, as it may still be the only successfully treated case in the US.” duck_doctor

31. The Patient’s Odd Symptoms Led To A Major Discovery

“My first rotation as a medical student was psychiatry.

I was really nervous and made a flashcard for each psych condition and a list of diagnoses to consider. One of the patients being discussed on rounds was psychotic (think: KGB is after me!) but was otherwise put together. He was really into doing art and was very, very religious. I looked at my flashcard for psychosis and casually mentioned that we should consider temporal lobe epilepsy (a disorder of the nervous system that results in seizures), which presents with religiosity and exaggerated artistic ability. An EEG (an electrical monitoring method that records the brain’s activity) showed that he had it.

I’ve caught a few zebras since, but that was my favorite.” implante

 

30. A Urine Test Gave This Doctor All The Answers 

“We had a good case a few years ago. An otherwise healthy, 40 y/o migrant worker from Central America started coughing up blood intermittently. Everything suggested tuberculosis: history (from an area with lots of TB), chest x-ray looked like tuberculosis, illness script looked like tuberculosis…but his tests for it (sputum/quant gold) were all negative. I decided to test his urine on a whim to rule out pulmonary-renal pathologies. Ding, ding, ding! Blood. Lots of blood. The patient never noticed it, and his kidney function was superb, so this was a tricky diagnosis.

Turns out he had granulomatosis with polyangiitis (Wegner’s). Kind of a sad story, because TB is largely curable, but with Wegner’s (a rare inflammation of blood vessels in a person’s nose, lungs, kidneys, throat, and sinuses) he’ll be on chemo for a long time. I’m glad we caught it before irrevocable damage to his organs, though.” gettheread

29. The Doctor Had A Feeling It Was Alien Limb Phenomenon Plus More 

“As a third-year medical student, I had a patient come in with four years of worsening balance and slurred speech. She had gotten a crazy work up at an outside hospital system with every sort of imaging possible, biopsies of random sites, and a number of very expensive tests.

She was at our university hospital for the first time. When I first entered the room I reached to shake her hand, and from her wheelchair, she had to raise her head at me because she couldn’t look up with her eyes. This was the first red flag. I also asked her if she had the sensation where one of her limbs would move without her controlling it, and she said yes. This is called Alien Limb Phenomenon. I diagnosed her with Progressive Supranuclear Palsy (a rare brain disorder that affects control of walking, speech, balance, vision, mood, behavior, and thinking) with features of Corticobasilar Degeneration (the cell loss and deterioration of a specific part of the brain), a very rare disease on the spectrum of Parkinson plus syndromes and my supervisors agreed.

Unfortunately, it was a bad prognosis but the family was consoled by the fact that at least they had a name for what was happening.” yourredditMD

28. A Tick Bite Caused This Woman To Be Allergic To Meat

“Patient came in with an itchy rash that would not go away for weeks and new swelling of the mouth and tongue. She had ‘hives’ all over her body and the only thing that had helped was repeated steroids. The patient was a mid-40s female who worked with dogs, so we assumed that she had a new allergy to pet dandruff, fragrance in a shampoo, flea medicine, something.

Discharged her home with an appointment for the dermatologist to do a biopsy of the lesions.
Later that day, she turns back up in the Emergency Department with swollen lips, increased rash, and trouble breathing. She started having these problems 15 minutes after eating a roast beef sandwich. Someone on the team remembered that she works with dogs and asked if she’d had any recent tick bites. Sure enough, she had been bitten by a tick a few weeks ago and identified a picture of a Lone Star Tick. Turns out she had developed an allergy to red meat after a bite from that tick.

This allergy is called alpha-galactosidase allergy and is a reaction to a carbohydrate carried on the outside of cells by all other mammals except humans and monkeys. The tick had bitten one of these and kept some of the protein in its digestive system, and then after biting her, her body developed antibodies to the carbohydrate causing her to have a new allergy to meat.” thepunctuator
27. Her Long Limbs And Disfigured Teeth Were The Clues To Her Rare Condition

“As a fourth-year during my rotations, I noticed my patient’s eye; the part of the eye that develops a cataract later on in life was shifted significantly up.

She had severe myopia and astigmatism ( -14.00 – 5.00 x 180 OU ) and her 6’1″ body along with disfigured teeth led me to believe she had Marfan’s Syndrome (a genetic disorder that affects the body’s connective tissue). She had never heard of it, never seen a cardiologist, etc. A few lab tests confirmed the diagnosis. She can live a normal life, just needs some meds and education.” deleted

26. A Young Man With A Heart Attack Said A Lot 

“Once and only once my partner and I, working together, diagnosed a rare genetic condition that caused a spontaneous Coronary thrombosis (a blood clot in the coronary artery that prevents blood from reaching the heart) leading to a heart attack in a young man due to the condition called the Antiphospholipid Syndrome (a disorder that results in an increased risk of blood clots).

Nearly forty years in Cardiology practice and I met this condition once, back in 1998. This young man came in with coronary thrombosis and we suspected the diagnosis, removed the clots through a suction procedure and later confirmed this condition by diagnostic evaluation. The treatment for this genetic condition is life long Warfarin (blood thinner).

I saw the patient in my office within the past two years. He has been free of new events after 18 years, taking the Warfarin (Coumadin) daily.” Gregory Miner Gustafson

25. Ignoring His Boss Saved A Guy’s Life

“ED referred a guy to me who had a platelet count of 2 (cells that circulate in your blood and come together when they notice damaged vessels).

The guy looked bloody sick, abdomen pain, petechial rash, feverish, diaphoretic, a bit confused and drowsy too. Talked to my boss who said to give him prednisolone (a type of steroid) and he’d see him tomorrow, but I was convinced this guy had a really rare condition called TTP (Thrombotic Thrombocytopenic Purpura, small blood clots form in the vessels) and so I called the major hospital in my area and sent him to their ICU for a procedure called plasma exchange. I ordered a test called ADAMTS13 to prove the condition, and still have a paper copy of the result (he had none of this chemical) because it’s the best diagnosis I’ve ever made, helped save his life!” sam_galactic
24. The Baby’s Hair Was Partly White, Signifying A Major Issue

“Menkes kinky hair syndrome.

I was called to see a 3-month-old boy with hard-to-control seizures. His most remarkable exam finding was his hair: he had been born with a full head of black hair (Hispanic), but at the time I saw him, the first 3-5 mm of each hair shaft was nearly white, with an abrupt color change, still black on the tips. The hair was a giveaway for this disorder, almost no need for confirmatory testing, but the admitting team had already ordered whole exam sequencing.

This was not a fun and exciting diagnosis to make, more a sinking feeling upon discovery of the hair (neurodegenerative disorder due to a defect in copper metabolism that is irreversible once symptoms appear), but it was interesting to see at that transitional stage.

I had only seen older boys with Menkes before, once the hair was already pale and brittle all over. Usually, the hair has changed long before the diagnosis is made.” Allyeknowonearth

23. Her Senior Told Her To “Chill” While The Patient’s Condition Was Deteriorating

“I’m an anesthesiologist. This happened when I was a resident. Changed me for life.

A 29-year-old male had finger surgery. He was given anesthetics for the procedure, and at first, everything was going smooth. But, within 20 minutes, he started to have rising etco2 (the concentration or partial pressure of carbon dioxide in respiratory gases was rising, which is very bad).  I called my attending after trying to hyperventilate.

(She was a young Harvard trained peds anesthesiologist). She comes in and asks me what I think is going on. I tell her things seem strange. She tells me to chill.

5 mins later the etco2 is over 100 and I’m freaking out! I call her and tell her this is MALIGNANT HYPERTHERMIA (easily fatal reaction to certain anesthetics). She says that I’m being ridiculous when I tell her I’m afraid this is The Real Deal. My pages get ignored by her.

Temperatures start to rise. I’m bugging out and call the board runner (supervising Anesthesiologist for all the operating rooms). He’s old.

Knows me well and trusts me. Comes in, looks at the monitor and flips out. Needless to say, we save the patient after many dozens of vials of Dantrolene, a muscle relaxant.” Awesam

22. One Quick Look And The Geneticist Solves The Mystery Other Doctors Were Clueless About

“I once saw a child with mosaic trisomy 8, a chromosomal disorder defined by a person having three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit, and joint, urinary, cardiac and skeletal anomalies. It was a complete mystery why he had speech apraxia (a speech disorder), and the geneticist I was working with took one look at his feet, saw that they had super deep creases lengthwise, and ordered a karyotype with mosaic trisomy 8 in mind.

Sure enough, he was right. I was amazed how spot on he was predicting that.” blizpix

21. The Child Who Swallowed A Button Battery 

“Primary doctor here. A 2-year-old child whose parents couldn’t communicate well swallowed a button battery and it was stuck in her throat. For clarity, I didn’t know it was a button battery, but something just didn’t feel right, so I sent her to the ED.

If she had gone perhaps one more day, she might have died—it had already killed a good amount of tissue in her esophagus and was apparently somewhat close to perforating.

I feel like it would have been very easy to just say she had a sore throat from an illness, particularly with the language barrier.

I’m glad that something felt weird to me—she didn’t look that bad, but was just holding herself and breathing weirdly.” En_lighten

20. Medical Student’s Ignorance Led Him To The Correct Diagnosis 

“Henoch–Schönlein purpura, a disease involving inflammation of small blood vessels, most commonly found in children aged seven or younger. In this case, it was an elderly man. The treating team thought it unlikely due to it generally affecting children, not the elderly. I was a medical student who didn’t know that, but to my eye (and looking on DermNetNZ) the lesions looked identical. Boy was I proud of myself when the biopsy results proved the diagnosis.” hayleymowayley

19. The Dog Who Couldn’t Move His Lower Jaw

“As a veterinarian, I saw trigeminal neuritis (the inability to move the mouth) in a dog.

Basically, the dog can’t move his lower jaw, but it’s not stiff or painful or anything, it just hangs slightly open. It looks like the dog has just received some unbelievable news, basically. It goes away on its own in 2-4 weeks, but the dog can’t eat or drink very well, so you have to syringe feed them, do elevated food bowls, etc.” cloud_watcher
18. Her Fingers Look Like Dead Fish Bellies When She’s Cold

“I saw a patient in the emergency room who was profoundly pale. I ordered hemoglobin and it was quite low, around six or seven. I talked to her and she said sometimes, when she gets cold, her fingers look like the belly of dead fish.

I did a few blood tests and diagnosed her with cryoglobulinemia (a condition in which proteins clump together at temperatures below normal blood temperature and can impede blood circulation and can damage skin, joints, nerves, and organs). We transfused her with blood through a blood warmer and put her on prednisone ( a type of anti-inflammatory) and she did well.” Mitch Stuck
17. Doctor Cures Heart Attack With Benadryl

“I had a patient transferred to our hospital for a STEMI (major heart attack). When they arrived, I noticed they looked a bit red and asked them, other than the chest pain, what symptoms they were having.

The person said that they had been having a rash for a few days as well as nausea, vomiting, and diarrhea. Those symptoms go along with a condition called scombroid poisoning which you get from eating old, dark-meat fish (tuna, mackerel, etc). I asked the person if they had recently been eating fish and sure enough they had been eating salmon for the past few days. Assuming they had scombroid poisoning, I treated them with Benadryl which fixed the rash, nausea, vomiting, and diarrhea. They were taken by the cardiology service to get a cardiac catheterization (how you find clogged blood vessels in the heart) for the heart attack and the results came back normal (no vessel occlusion).

Best I could tell the scombroid poisoning stressed their body and made them hypotensive which made their heart work harder. The increased demand on the heart plus an already weak heart led to the heart attack. Also, it was pretty awesome to see the EKG go from showing a clear heart attack to normal after being treated with Benadryl!” 1llumina

16. Woman’s Headache Was The Result Of A Rare Bacteria

“Internal medicine and pediatrics intern. I had a great case in the ICU of a woman who had a headache then pretty much became unresponsive. MRI did not show stroke but rather all of these ring-enhancing lesions! The patient had been on immune suppressive therapy with steroids.

We end up having to do a brain biopsy because all other cultures had been negative and it ended up that she was growing the bacteria Nocardia (nocardiosis is an infectious disease affecting either the lungs or the whole body). CNS Nocardia is not too common and it was kind of an unusual presentation so it was pretty interesting.” davidtaylor414
15. Rare 19th-Century Disease Makes A Comeback, And This Doctor Noticed it

“Very early in my career, I saw an old lady who was so dizzy and unsteady she fell down repeatedly, injuring herself. She also had tinnitus, headaches and hearing loss. Neurologists were treating her for parkinsonism without much improvement (which is not in itself surprising: antiparkinsonian drugs are relatively good at controlling tremors, not so good at helping with balance).

Reviewing her medications, I noted that she was taking quinine tablets (primarily used to treat malaria) 3 times a day. Back then (12 years ago) it was common to give quinine for leg cramps, but most people took it at night as needed. This lady had been taking it for years. I diagnosed her with cinchonism (poisoning caused by excessive ingestion of cinchona alkaloids, or quinine poisoning)—tinnitus, hearing loss, and vertigo are common symptoms. Cinchonism was rare even then (its heyday was in the 19th century when people used quinine for malaria and as an antipyretic), it’s virtually extinct now as quinine has been taken off the market.” ljseminarist
14. This Pharmacist Caught The Disease Even The Doctor’s Didn’t See

“Pharmacist here. Followed a patient for a while that the docs thought had type II diabetes because they presented with high blood sugars in their 30s.

The patient was relatively healthy other than that—worked out, wasn’t really overweight—so it was a pretty atypical presentation.

I asked one of the docs to see if the patient could have latent autoimmune diabetes of adults (LADA)—basically, type I diabetes that randomly happens to you later in life. We ran an immunological assay on the patient and they did end up having LADA. Lucky for them, they got discharged on insulin (which they needed) rather than metformin (which wouldn’t have really worked). Felt good to make a catch even the doc wasn’t looking for. Hospital pharmacists can help!” Jzkqm

13. Old Doctor Recognizes A Pain Torrent When Young Doctors Don’t Even Seem To Know It Exists

“Nurse and patient here. I had a tooth pulled.

Twenty minutes later, the pain was a 10 out of 10 at the site of the tooth. I went to urgent care. I was in such pain that they chose to take me straight back to a room rather than make a scene (unintentionally) in the waiting room. The 80-year-old doctor saw me from 30 feet away. I quickly told him I had a tooth pulled and he interrupted, ‘Pain torrent. 100 mg Demerol IM stat.’ Five minutes later, I was getting a shot of powerful narcotic pain medicine in my butt. Three minutes later, the pain was totally gone.

The doctor explained the pain cycle gets caught in a cranial nerve and with each cycle of neurological feedback, intensifies.

Breaking the cycle with a single dose of opioid pain med severs the cycle.

None of the doctors I know have ever heard of a pain torrent. As a nurse, I researched it and the old doc’s explanation is totally plausible from a physiological perspective.” markko79

12. Newby Resident Makes An Extraordinary Diagnosis On A Man With Strange Symptoms

“This case is from my second month of neurology residency, so I barely knew anything but was on call alone on a weekend and in walks a 30-something-year-old guy with an odd constellation of symptoms. He felt like he was walking kind of oddly for a couple of days and then when he looked in the mirror at work the day he presented, his pupils were suddenly massive.

Denied any substance use. When I examined him I saw he was ataxic (loss of full control over bodily movements) and had no reflexes. His pupils were about 8 mm each, which is very big. I diagnosed him with a variant of Guillan Barre syndrome called Miller Fisher.
Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barré syndrome (rapid-onset muscle weakness caused by the immune system damaging the peripheral nervous system). It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barré syndrome, symptoms may be preceded by a viral illness.

Further symptoms can include overall muscle weakness and respiratory failure. The majority of individuals with Miller Fisher syndrome have a unique antibody that characterizes the disorder.
I recommended starting the treatment for my diagnosis immediately and sending off gq1b antibodies and a lumbar puncture which would confirm the diagnosis. The attending thought I was crazy when I presented it in the morning because there was no way I’d be able to diagnose that so early in my residency, but I was right and the antibodies came back positive.” ShamWithYams

11. Doctor Helps A Patient Who Everyone Thought Was Lying To Get Pain Meds

“Evaluated an early 30-something-year-old male for worsening back pain over a few weeks.

Been seen at 2 ERs, urgent care, and an outpatient office before my evaluation. Did a thorough history and physical including a review of previous X-rays. Basically, everyone thought this guy had a muscle strain and was seeking narcotics. After questioning him further he endorsed trouble peeing. We proceeded to get a STAT MRI of his lumbar spine and he had a textbook case of Cauda Equina Syndrome, which affects a bundle of nerve roots called cauda equina (Latin for horse’s tail). These nerves are located at the lower end of the spinal cord in the lumbosacral spine. They send and receive messages to and from your legs, feet, and pelvic organs.

The condition necessitates urgent surgical treatment. Had the ortho spine surgeon ready to operate on him within the hour. Crazy.” deleted
10. This Young Woman Didn’t Know She Was Having Her Period 

“Had a young girl come into the ER complaining of back pain. It had been months of seeing a physio, sports medicine, massage, etc. She was a competitive dancer so nobody thought much of her not yet having a period (at 15). Totally by luck, I asked about this and the timeline worked out. Every 4 weeks her back pain got worse. Did an ultrasound and found a big uterus, turned out she had an imperforate hymen, a congenital disorder where the hymen does not have an opening and completely obstructs the female reproductive organ.

She had been having her period every month without knowing it which was giving her back pain.” BentleyMcBatman
9. He Wouldn’t Have Known The Disease Without That Presentation 

“As a resident, we had a young man who had been admitted with a second episode of spontaneous peritonitis (the inflammation of tissue cells lining the inner wall of the abdomen and pelvis) with no obvious explanation. Spontaneous peritonitis is a type of bacterial infection in the lining of the abdomen which does not have an obvious source of the infection. I think he had a relative who had had some major vascular event at a young age.

He looked a little odd, and some old scars looked kind of stretched out and thin.

I started wondering about a connective tissue problem and remembered that in medical school my roommate had done a presentation on Ehlers Danlos type 4, an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of the disorder. I suggested the diagnosis to the GI attending caring for the patient, and after she read up on it she had tissue sent to a lab that could grow fibroblasts and test for this.

When the results came back, many weeks later, that this was the diagnosis, it was presented at some city-wide GI case conference. I had gastroenterologists walking up to me and shaking my hand for months. No chance I would have figured this out if my roommate hadn’t done that presentation.” David Rind

8. Patient Coughing Up Blood Was The Path To Figuring Out His Diagnosis

“I was a med student on a urology rotation and we had a patient with unexplained blood in his urine among other things. An x-ray, CT scan, urinalysis, USS and blood couldn’t explain it. This guy had been on the ward for a week before I noticed him coughing up blood one afternoon.

Told the urology resident, got a rheum consult, and it turned out that I was right—the patient had Goodpasture’s. Goodpasture syndrome (GPS) is a rare autoimmune disease where antibodies attack the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure.” Mc-Dreamy

7. The First Case Of Measles This Doctor Had Seen In 33 Years

I did not know that measles was a rare medical condition. I remember them being quite regular in a lot of people when they were younger.

“Measles. You see, I practice in the US where measles was eradicated decades ago. In 33 years practicing I had never seen a case, it is so rare here.

I was only able to diagnose it because I had it myself as a child in the pre-MMR vaccine era.” Larry Isaacs

6. One Mom Asked An Uncomfortable Question To Get To The Diagnosis

“My mother is a registered nurse. My little sister wasn’t feeling well, to the point of being so weak she had to go to the hospital. After a while, my mom has this light bulb idea, and she starts asking my little sister if she was on her period, or if she had a tampon in. She did. I think at that point she had it in for over 24 hours.

So my mother told the doctors to test for toxic shock syndrome. So they got that nasty thing out, but she still had to go to the ICU children’s hospital for like 10 days before she was healthy enough to go home.” Mere1514
5. A New Mom’s Affair Determined Her Baby’s Condition

“One-month-old baby was admitted to the hospital for unexplained fevers and reduced activity. The baby had the full infectious disease workup, including blood cultures and spinal tap, but nothing was showing up. The parents (respectable married people) were understandably very concerned, as their baby was deteriorating day by day from an unknown infection.

I asked the parents every question I could think of, but nothing was abnormal at all. In the process, I made friends with them. After a week of hospitalization, the mom privately admitted to me that she’d had an affair during pregnancy and noticed some bumps on her genitals in the third trimester. But she had felt too ashamed to tell a doctor until now. We then promptly tested baby for all STD’s, and bam, the baby has syphilis. Congenital syphilis is fairly uncommon in the United States but treatable if caught early on.

Moral of the story: Always develop a strong relationship with your patients and their families.

They will need to trust you enough to tell you their deepest, darkest secrets.” dopamine_agonist

4. A Pulse Check Was A Huge Tip

“This happened when I was a fourth-year medical student.

The patient I saw visited the ER because of a followup due to some viral illness. While talking to him he was completely normal, said the only reason he showed up was that the company was covering it. Anyways, I wasn’t sure what to do with such a case, normally we have to present to the attending with a diagnosis after taking an examination but this patient was fine and I didn’t really want to do it.

What I did do however was just check his pulse and though I wasn’t really good at detecting abnormal stuff just yet, it was obvious something was off about it. So I asked my friend to check it, who told the resident, who told the attendant who made the patient get an ECG ON THE SPOT. And lo and behold the patient had atrial fibrillation, a quivering or irregular heartbeat that can lead to blood clots, stroke, heart failure, and other heart-related complications.” scoutnemesis

3. Eating Too Many Beans Almost Killed This Vegan Patient

“Just before my final exams I was working at the hematology and oncology ward as an intern.

I saw a young man, 30, complaining of rapidly worsening discomfort, difficulty breathing, rapid heart beating, and tiredness. While doing the exam he got worse and worse, eyes turning even more yellowish as I was interviewing him. Also, he had microhaematuria, where small amounts of blood occur in the urine, and bloodwork showed massive hemolysis, the rupture of red blood cells. He required several blood transfusions in the following night but survived. A test later confirmed he had a G6PD-deficiency, also called favism. It is a genetic disorder that most often affects men and happens when the body doesn’t have enough of an enzyme called glucose-6-phosphate dehydrogenase (G6PD), which helps red blood cells work.

His becoming a vegan recently and feasting on beans nearly killed him. Probably one of the rarest diseases I diagnosed mostly by myself as its not common where I live.” lixcharam
2. Doctor Collected Six Patients From Across The Country To Make The Rare Diagnosis

“I have the opposite problem. I couldn’t get diagnosed because no one could figure out what was wrong. I eventually got my way into an NIH research grant which they started running every test they could think of me. What happened for me is when my skin cells become cold or face a temperature shock my autoimmune system goes crazy.

By crazy I mean I get a skin rash that burns followed sweating, fatigue, headaches, generalized pains, extreme thirst, and nausea in addition to the fever, and joint pains that spread throughout the body. Everything swells and it makes it hard to move. It also is a progressive disease so every time it happens the next time is worse. Well, my doctor put together a group of 6 of us she managed to find across the U.S. It took my family 13 years to get my diagnosed and my dad 44 years to get diagnosed: FCAS, familial cold autoinflammatory syndrome.”

Mr-AlergictotheCold

1. A Vet Technician Was The One To Save This Dog’s Life

I’m a vet technician that works in veterinary ER and IM.

My favorite case ever that I helped diagnose was a post-arrest pet that transferred from her GP. The dog had been given a sedative and arrested at the vet but they were able to resuscitate her. While my vet was receiving the case, I noticed that the pup’s electrolytes were way off balance and alerted my vet. This particular imbalance is associated with an endocrine disease where you don’t produce enough steroids called Addison’s. I asked if I could run the test and it came back positive. It was like the missing piece of the case puzzle. Addison’s also lowers blood pressure so when the GP gave a sedative her blood pressure completely bottomed out and pushed her into arrest.

Addison’s can be treated with steroids and an injection every 5 weeks. I still get to see her when she stops in. Yay_Rabies
The medical field is a tough one to be in, and these stories just solidify that medical professionals are heroes.