An orphan disease, a rare disease in common parlance, affects less than one in 2,000 people. This seems anecdotal, yet these are, taken together, relatively frequent diseases: in France, 3 million people are affected *. To think that a doctor will never come across a case of orphan disease is false ... This possibility does exist, and he must then be able to think: "What if it was a rare disease?"
I was thrown into the world of orphan diseases at the very beginning of my career. Young intern, I received a patient with various and not very specific symptoms, did not think of rare pathologies and therefore could not understand that it was a case of Fabry disease, a disease Orphan metabolic action of the lysosome (an intracellular organelle). Result: without my head of clinic, the patient would not have been correctly diagnosed and would not have received the appropriate treatment. This event deeply affected me. He was the element
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