The European Union Committee of Experts on Rare Diseases (EUCERD) has established recommendations for the criteria of centres of expertise for rare diseases in member states, their mission and scope, and the criteria of their designation. Major principles include the following: healthcare pathways for patients should be organised; patients may be treated as near as appropriately possible to their home through the use of information and communication technologies (e.g. telemedicine). Emphasis has been placed upon the development of European reference networks (with respect for the national competences and rules of member states), as well as registries and databases, and the necessity of a multidisciplinary approach.
The history of rare and orphan diseases has followed a course from curiosity to solicitude and eventually to science. Curiosity and keeping an open mind is the first step for considering the possibility of a rare lung disease in a patient with an unusual or atypical presentation. Solicitude, which is the right of any patient, should be emphasised because of patients’ feelings that they are ‘orphaned’ in the world of healthcare. Finally, improved clinical and basic science knowledge as well as research in the field of rare pulmonary diseases should become an ethical duty for all respiratory physicians.