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My dad says he was the one to diagnose patient zero during the measles outbreak in New York during 1991, he says when he called CDC that friday, noone believed him, since it had been a pretty damn long time since anyone had seen it. He said the only reason he recognized it was because his little brother had gotten measles once, and the patient 0 had exact same symptom.Eventually he stared such a fuss that CDC did show up, and confirmed it was measles to which they put the kid into quarantine and began to do their thing.
Not a doctor but happened to my cousin.
She was pregnant with her first child and suffering from incredibly bad morning sickness, couldn't even smell food without throwing up, her chef partner even had to shave his head as the smell of his hair after work was too much. She was very confused, very weak, all round Not Right. Her partner kept taking her to hospital but they'd just get her hydrated and send her away again as they couldn't figure out why she was so weak/confused.
Until a doctor came along and looked into her eyes and saw she had rapid/unfocused eye movements all over the place. He immediately diagnosed her with Wernicke–Korsakoff syndrome. It hadn't occurred to anyone else as it's a disease of primarily alcoholics, caused by a b vitamin deficiency. I think at the time hers was either the first or one of the first diagnosed cases of it in pregnancy in the UK.
She spent most of her pregnancy in hospital and lost her short term memory, which took a year or two after birth to come back fully. Her son spent some time in NICU, mainly because of the drugs she was on but he's a strapping 20 year old now.
When I was a 3rd yr medical student I did a rotation in pediatric neurology. We had a 7 yr old girl come in with seizures, near-total paralysis, and near-comatose drowsiness. Worst of all, she had gone completely blind over the course of two days.
It was suspicious for Guillain Barre Syndrome, but the way the paralysis started, the blindness, and the drowsiness didn't match. None of her tests were positive for anything. I went home and did some research and found case reports for people who had GBS with blindness. There's something called Bickerstaff Encephalitis that matched her symptoms perfectly. BE is an extremely rare subtype of Miller Fisher which itself is a subtype of GBS. There's something like 11 cases of BE a year in the US and I diagnosed one of them.
We started her on the treatment for BE (plasmapheresis) and she regained her sight and muscle function within a week. It was an amazing experience. Everyone on our team felt like a miracle worker--we discharged a happy, walking and talking 7 yr old girl who just 2 weeks before was completely blind and paralyzed.