Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments

“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by the careful investigation of cases of rarer forms of disease. For it has been found in almost all things, that what they contain of useful or of applicable, is hardly perceived unless we are deprived of them, or they become deranged in some way.”