Rare Diseases in Malaysia: An Overlooked Crisis Affecting One Million

By Milad Hassandarvish, 17 Apr 2025 –

An estimated one million Malaysians live with rare diseases, a significant number obscured by the absence of a national patient registry. This lack of comprehensive data hinders a clear understanding of the prevalence and specific needs of this population. Malaysia faces substantial hurdles in addressing rare diseases, including limited resources, the exorbitant costs associated with treatment, and a critical shortage of healthcare professionals specialized in these complex conditions. Despite affecting fewer than one in 4,000 people individually, the collective impact of over 491 documented rare diseases (as of 2020) is considerable. These conditions, often presenting with diverse and enigmatic symptoms, pose significant challenges in diagnosis, treatment, and overall management.

Nadiah Hanim Abdul Latif, president of the Malaysia Rare Disease Society, emphasizes that while each rare disease is uncommon, the estimated one million affected individuals align with global data suggesting 3.5% to 5.9% of the population lives with such conditions. The lack of a national registry, however, leaves the precise figure uncertain. Despite these challenges, Nadiah notes a positive trend of increasing collaboration among healthcare providers, government bodies, policymakers, industry stakeholders, and patient advocacy groups within Malaysia, extending to regional and international engagement.

The Urgent Need for Attention

Addressing rare disease treatment is critical due to the significant strain these conditions place on the healthcare system. Nadiah argues that collectively, rare diseases affect a substantial population, demanding management strategies similar to those for non-communicable diseases. A proactive approach focusing on early diagnosis and lifelong health plans is crucial for mitigating healthcare costs and should be viewed as a vital health investment. Reactive measures, conversely, lead to escalating costs, increased disability, and greater suffering.

Furthermore, Nadiah highlights that rare diseases represent a significant burden on national resources. Effective management could position Malaysia as a regional leader in rare disease expertise, while neglect risks an aging population with increasing unmet needs and limited resources.

Gaps in Treatment and Care Persist

Current resources for treating rare diseases in Malaysia remain inadequate. The development of orphan drugs requires significant investment in research and facilities, and globally, only 5% of rare diseases have available treatments. The remaining 95% rely on symptom management, and even for treatable conditions, affordability remains a major barrier.

For patients relying on symptom management, the scarcity of specialized healthcare professionals is a critical concern. Currently, only 14 geneticists serve the entire nation, spread across just six genetic clinics in government hospitals. Addressing these gaps is paramount to improving access to specialized care and advancing treatment options for the one million Malaysians living with rare diseases.