Access to social services for undiagnosed rare disease patients in France: A pilot study

• Published in: European journal of medical genetics Vol. 65; no. 5; p. 104494
• Main Authors: Pélissier, Aurore, Wallut, Laure, Giot, Gwendoline, Domenighetti, Laetitia, Demougeot, Laurent, Faivre, Laurence
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.05.2022
• Subjects: France; Rare disease; Social services; Undiagnosed; Unmet needs; Unmet needs; Undiagnosed; France; Social services; Rare disease
• ISSN: 1769-7212; 1878-0849; 1878-0849
• DOI: 10.1016/j.ejmg.2022.104494

Although the challenge of access to care for undiagnosed rare disease patients is well documented in the literature, little is known about lack of diagnosis preventing access to social services. Yet this has serious consequences for patients and their families because disability associated with rare disease requires frequent and costly multi-disciplinary support. The aim of this research is to explore, in the French context, access to social assistance for rare disease patients. We investigate the link between diagnosis and access to social services to identify potential barriers and unmet needs for patients. Our study is based on a self-administered online questionnaire, adressed to parents or legal representatives of a child under ten years old with a rare disease and development disorders. The survey has been carried out between November 2019 and the end of January 2020 and includes 103 respondents. While our data does not show any differences in the possibility of obtaining a social benefit depending on the diagnosis status, there are differences in the length of time they are granted and in the satisfaction of families with the assistance obtained. Families with an undiagnosed child obtained social assistance for a shorter period on average. They were also more likely to be dissatisfied with the amount of benefit they received. The results of this pilot study need to be confirmed by further extended studies. •Undiagnosed rare disease patients report difficulties in accessing social services.•On average undiagnosed child obtain social assistance for a shorter period.•Families with an undiagnosed child are more likely to be dissatisfied with the amount of benefit they receive.