high-resolution computed tomography (HRCT), which can be used to identify characteristic diagnostic patterns (e.g. the crazy paving pattern of alveolar lipoproteinosis on a chest HRCT). Furthermore, patients may ask for more relevant investigations as they themselves glean precise medical information, regarding their condition, from the internet. Chest physicians should, therefore, know where they can obtain credible and updated information to launch the appropriate investigations and attain a correct and final diagnosis for their patients. The information may be obtained directly from original papers, published in specialty journals however, these are often focused on basic research that has limited immediate application. Thus monographs, such as the present one, may represent a true companion for reaching a secure diagnosis in the jungle of orphan lung diseases. The US Orphan Drug Act made law in 1983 has provided incentives to the pharmaceutical industry to improve rare disease drug development. In Europe the regulation of the European Parliament and of the Council on Orphan medical products was adopted in 1999. This has resulted in an increasing number of ‘‘orphan drugs’’ being approved for clinical use in recent years. Associations for patients with rare diseases continue to play a specific role in supporting patients dealing with daily difficulties, distress and isolation. They help in translating the medical information concerning the disease and the patients care into common, understandable laymen’s language, often bringing responses to practical questions that many patients may not ask the doctor. The more powerful patient associations further fund medical research projects and meetings. They must collaborate with, but remain independent from the medical specialists of the disease to best play their role. Their input is needed in all the networks, referral centres, and clinical research projects. The sizes of the associations are extremely variable, largely dependent on the prevalence of the disease. Patient associations are usually nation based, especially for linguistic reasons. Some federations of patients’ associations exist on a European basis. These associations further participate in the European Organisation for Rare Diseases (EURORDIS), a non- governmental patient-driven alliance of patient organisations and individuals that are active in the field of rare diseases and dedicated to improving the quality of life of all people living with rare diseases in Europe. The European Union Committee of Experts on Rare Diseases (EUCERD) recently produced recommendations on the quality of criteria for national centres of expertise concerning rare diseases. The experts emphasised the need for the expertise to travel rather than the patients themselves to travel. Cooperation and knowledge sharing between centres of expertise appears to be an efficient approach to dealing with rare diseases in Europe. EUCERD recommended the identification of appropriate centres of expertise throughout their national territory, thereby fostering the participation of these centres in a European reference network, to organise healthcare pathways for patients and to support the use of information and communication technologies, such as telemedicine, where necessary to ensure distant access to specific healthcare. For too long orphan diseases have been a matter of curiosity to the public and to doctors, rather than an obligation of solicitude to the affected patients. The time has come to develop efficient care, especially through more appropriate diagnosis and research, including drug development and a more humanistic consideration of the patients who should no longer be made to feel like an ‘‘orphan’’. viii
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