This whitepaper was commissioned to investigate the current situation of rare diseases in Malaysia. Due to the perceived rarity of such conditions, the rare disease community was often marginalized, and the lack of a holistic policy on rare diseases impacted how these diseases were managed. These developments resulted in early mortality and severe morbidity, including the learning and physical handicapping of patients with rare diseases.

In short, rare diseases remain under diagnosed, underfunded and face many unmet needs Although some steps were taken to address these issues, including the provision of funding for drugs for selected conditions over the last few years, more needs to be done to match the pace of how these diseases are managed in regional countries and global rare disease community to ensure equity in healthcare.

Through extensive consultations with various stakeholders and surveys of patient groups and their families, this whitepaper addresses key areas that need to be reviewed to improve not only the healthcare mechanism but also social, ethical, legal and financial management as well as the governance framework for Rare Disease (RD).