Care for patients with ultra-rare disorders

Abstract

There is increasing attention by policy makers and health authorities for rare disorders (by definition prevalence <1:2000). The attention for ultra-rare disorders (suggested prevalence one-thousandth of rare disorders, so <1:2,000,000) is very limited however. Here some aspects of organizing adequate care for individuals with ultra-rare disorders in a European setting are discussed. Individual ultra-rare disorders are by definition very uncommon but it can be calculated that as a group they form a considerable part of the total group of persons with rare disorders in the European Community (EC). Diagnostics and regular care for individuals with rare disorders is being arranged in national centres of expertise, but due to small individual numbers this is not possible for ultra-rare disorders. A secure database on the internet to which patients with unknown diagnoses from all countries within the EC can be uploaded using standardized terminology and including clinical pictures will be needed to allow for recognition of comparable phenotypes in patients and, thus, establishing rare diagnoses. Due to the large distances between the places where patients live and their large numbers regular care has to be provided locally and centres of excellence will have to function virtually through e-mail consulting. The use of wiki's that are accessible to patients and families to upload data will help to disseminate knowledge and experience. It will be extremely difficult to obtain sufficient funds for research in ultra-rare disorders. It is suggested that the many very small support groups for ultra-rare disorders organize themselves in umbrella organisations of such size that policy makers and grant providing bodies will consult them for their strategies. The role of individuals with ultra-rare disorders themselves, or their families, in obtaining access to all advantages modern medicine can provide will therefore be large.