Aim Very little information is available about the disabilities encountered by rare disease (RD) patients, of whom more than half are children. The Orphanet (www.orpha.net) Disability Project aims to improve the knowledge and visibility of disabilities associated with RDs.
Method We are indexing the functional consequences of each RD with the Orphanet Functioning Thesaurus, an adaptation from the “Activities and participation” and “Environmental factors” domains of the International Classification of Functioning, Disability and Health-Children and Youth version (ICF-CY, WHO, Geneva, 2007) which includes additional terms for cognitive abilities, sleep, temperament and behaviour. Through a questionnaire sent to medical experts, disability specialists and patient organisations, we collect, for each RD, the activity limitations and participation restrictions (113 terms), their temporality during the course of the disease (permanent or transient difficulty, delay, loss of abilities), their severity and respective frequency in the patient population, and some environmental factors influencing disease course. Data is analysed and standardised to constitute the Orphanet Functioning Database. This project is funded by the French Caisse Nationale de Solidarité pour l’Autonomie.
Results More than 900 RDs are already indexed and 650 more in progress, with the contribution of hundreds of people and organisations from 46 countries. These RD disability core sets will be freely available in 7 languages.
Conclusion It increases knowledge and aids in evaluating and managing the daily difficulties and needs experienced by RD patients. It can also help social agencies in distributing appropriate disability compensation measures and decision makers in assessing the social burden of RDs.