CMM is cooking ribs for Independence Day and they are smelling goooood!!!
Been a busy weekend so far (drove an hour and a half to second son’s to help him with a car purchase). Today and tomorrow are for relaxing.
Funny story to tell. Had a new patient earlier this week. As she was preparing to leave, she asked if she should bring her husband to see me. He has a mysterious painful rash when exposed to the sun for even a few minutes, and if he gets re-exposed to the sun within a couple days the reaction is even worse. I had an inkling what this might be, and after a little research I’m pretty sure I know what it will be (very rare disease). So the next day I’m talking to my sister on speakerphone in the office I share with my business partner (another MD). I’m telling my sister that I feel like a rare disease magnet lately and start to tell her the story and my sister (who has no medical training) shouts out “Is it porphyria????”. (That is indeed what I was just about to tell her I think it is).
Oh, you should have seen my partner’s face! She’s like “wait, I didn’t even know about porphyria, how does her non-medical sister know this??? “
Turns out, just by chance, my sister’s friend has a daughter who is being worked up for strange symptoms and porphyria is one of the things they’re considering, so my sister got curious and had just read upon porphyria that weekend! But my partner now thinks I come from a family of geniuses lol.
It’s very rare, and I obviously need to get a lot more of the medical history, but I’m pretty sure it’s going to be a particular form of cutaneous porphyria called EPP. I’m looking forward to helping this guy.
