The management of rare diseases is rarely addressed among policymakers and public communities. It is hindered by the lack of information on its epidemiology and burden, especially from the perspective of patients and families with rare diseases. This study aims to understand the perceptions of rare disease patients and their families in the management of rare diseases in Malaysia.

A qualitative interview was used to explore the perceptions of patients and families regarding the management of rare diseases in Malaysia. In-depth interviews were conducted with the rare disease patients or their parents/guardians provided by three major rare disease advocacy groups, between 1 July and 15 September 2016. The interviews focused on two key areas: the challenges associated with rare disease and the issues related to accessing medication.

Out of the nineteen recruited participants, seventeen (89.5 percent) completed the interview sessions. The significance of awareness, knowledge, and support from others emerged as crucial for families and patients living with rare diseases. Despite facing delayed diagnosis and treatment, a majority of patients and parents expressed satisfaction with the advancements in rare disease management. Nevertheless, a prominent challenge revolves around access to enzyme replacement therapy for eligible patients.

This study emphasizes the importance of healthcare professionals understanding patient with rare diseases perceptions to tailor communication strategies, provide accurate information, and address concerns effectively. The message underscores the significance of collaboration between healthcare providers and patient support groups to deliver adequate health information, potentially enhancing patients’ understanding and their illness perceptions.