Diagnosis and support
Although significant advances have occurred in the past two decades, patients with rare diseases still complain that the appropriate diagnosis was not made and/or was only confirmed after months or even years. Given the large number of rare diseases, most primary care practitioners have little if any experience of them. Furthermore, some patients feel that their respiratory specialist also has limited knowledge of their disease (for example, difficult-to-manage asthma which turns out to be a feature of eosinophilic granulomatosis with polyangiitis). Improved knowledge of the main features of rare diseases is a real ethical duty for all respiratory physicians. Elementary and more comprehensive information can be obtained from a number of sources, including the major pulmonary textbooks, respiratory journals and websites. Notably, the European Respiratory Monograph has recently published issues devoted to Orphan Lung Diseases and to Pulmonary Hypertension. The major website for both patients and doctors is Orphanet (www.orpha.net), which provides validated information about hundreds of rare disorders, including those that mainly or occasionally involve the lungs.
Patients’ associations have been of major importance in providing support to people suffering from rare pulmonary diseases. They often result from the initiative of an affected patient or the parents of an affected child. Such associations are an indispensable interface between patients and doctors; their translation and explanation of medical information into lay terms is particularly helpful, and they are also able to answer questions that the patient may not wish to ask their doctor. Patients’ associations also provide psychological support, and are particularly helpful in helping to break the solitude of isolated patients. Some patients’ associations have succeeded in funding major research projects. Eurordis, a European coalition of rare disease associations, plays an important role in federating the national associations.