42 Unbelievable Cases Where Doctors Faced Rare Diseases That Defied All Odds
Hmmm. Rarest? Off the top of my head? I don’t know. I did see a woman with psoriatic arthritis type 5. It’s an autoimmune disease. It had basically disintegrated all her fingers to nubs. They had the exact shape of short, stubby sharpened pencils.
Edit: I think it’s called distal interphalangeal predominant psoriatic arthritis. And the pics I googled still don’t do it justice. She looked like she had sharpened pencil stubs for fingers, like strange little claw hands. I was an intern at the time. The woman laughed at my amazement. She was obviously comfortable with it at this point.
Edit edit: I got the precise name of the disease wrong. Somebody below pointed out to me that it’s actually a more severe form called psoriatic arthritis mutilans.
Pathologist here. Rare diseases for most other doctors are commonplace in our field (I’ve diagnosed multiple leprosy cases and rare cancers that have only a few published cases in the literature).
Some are so rare there aren’t names, and we just describe the cancer. Intellectually challenging for us, terrible for oncologists who might not know how to treat that entity.
CLN6 – only about 125 cases described in the literature. My brother has the disease and I am a carrier. His diagnosis was unknown until I had extensive genetic testing done prior to fertility treatment and found I was a carrier. I’m also an IM doc, driven initially by my desire to figure out what disease my brother had. I have seen vCJD. There was a small cluster at a hospital I trained at thought to possibly be associated with wild game. I also had a patient with Leigh syndrome.
I was working for an animal rescue on the board. We had a pregnant horse come through our care and she made it full term pregnancy, carried healthy twin foals, had a stable delivery and both foals survived. The vet we had who was also on the board delivered them.
For those who don’t know, twins for horses are extremely rare in the first place. *If* a horse gets pregnant with twins, and it’s detected early enough, one will be “pinched off” in order to save even part of the pregnancy.
If it goes undetected, usually the mare will have some serious issues. Either of the twins surviving is unheard of.
So this vet delivered twin foals from this quarter horse mare, going into it having no idea she was carrying twins, and delivered two perfectly healthy (although a little small) colts and mama had no complications.
The odds of it happening, both surviving the pregnancy, and delivery, and mom making it… astronomical. Unheard of. Those horses received letters from all over the world. A true medical anomaly.
My mom accompanied my sister on a visit to an allergist. The doc walked into the room, looked up from reading the chart, stopped and stared at my mother. Seemingly mesmerized he walked up to my mom and, without asking permission or saying a word, poked a finger into her cheek. “You need to get to the ER right now.” they were understandably confused and thought that he was an idiot who didn’t even know which one was the patient.
“NOW.” He was very clear and very forceful. Scared them and, shaking, she did as he told her to do.
Turns out she had advanced colon cancer, was bleeding internally, severely anemic, her heart was failing and fluid was backing up. It caused her face to be really pasty and bloated (which he recognized) and when he pressed his finger to her cheek he saw serious pitting edema.
By the end of the day she was in the hospital, had gotten three pints of blood and pee’d out tons of dangerous fluid. Surgery within 48 hours and, though it was metastatic, she is still here 15 years later.
No matter how good a medical search program is it will NEVER replace the instinct and insight of a human being who has devoted their life to medicine!
Anti-NMDA receptor encephalitis. One in 1.5 million.
Psychotic symptoms (auditory or visual hallucinations, paranoia, delusions) due to an autoimmune disorder where your body produces antibodies against NMDA receptors in your brain.
We’ve seen 2 this past year at our hospital. The real incidence of this could be higher than one in 1.5m but might not be tested for often enough. Once someone gets labeled a “psych” patient, consideration of medical etiologies often goes out the window.
I’m a patient, and I was diagnosed with WPW after a brutal hit to my chest, while playing football. It took 2 catheter ablations, to correct the problem. Both doctors, and the hospital staff have never seen anyone diagnosed with WPW in their teens. So I was recovering around people in their 60s and 70s. It was a life changing moment, if your a cardiologist in Northeast Illinois, Mchenry, Lake and Cook County, you may have saved my life. Thank you all and Godspeed.
I was diagnosed with a Chordoma 8 years ago. One person in a million gets it. I tell people if you have to get cancer, get one of the common ones, treatment is way better!
Does my newly discovered genetic mutation count? I have a mutation that causes my body to metabolize sugar almost instantly. I survive at a daily sugar level of 39-55 and they wrote peer review medical journal article about it just 2 months ago.
They testing it on diabetic mice to see if it can stop diabetes.
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