Putrajaya: Every patient's journey with a rare disease is a story of profound human resilience. Behind every diagnosis is a patient and family who have navigated uncertainty and refused to give up.
According to BERNAMA News Agency, for these families, an accurate diagnosis is the turning point that delivers clarity, equipping them to navigate complex treatment pathways, connect with support networks, and reclaim control over their future. In Malaysia and across ASEAN, rarity is never a reason to delay or deny care; it serves as the ultimate test of health equity. Patients across the region encounter a challenging "diagnostic odyssey," often spanning five to seven years, during which they transition between doctors and hospitals, with one in three experiencing at least one misdiagnosis. Delayed diagnoses impose significant burdens, including missed school or workdays, financial strain, emotional exhaustion, and preventable disease progression.
Even when a diagnosis is confirmed, families typically wait an average of five months for treatment, facing financial or systemic barriers to access care. These challenges highlight the complexity and scale of rare diseases. The definition of 'rare' varies, with Malaysia using a threshold of 1 in 4,000 people, compared to 1 in 2,500 in Japan and 1 in 10,000 in Taiwan. Over 7,000 rare diseases have been identified, mostly genetic, and many appear in childhood without effective treatment options. Together, rare diseases affect an estimated 300 million people globally, including 45 million across Southeast Asia. What is rare for an individual patient becomes a significant public health challenge for the region.
In May 2025, the World Health Assembly (WHA) adopted its first resolution on rare diseases and tasked the World Health Organisation to develop a 10-year global action plan by 2028. Malaysia, the Philippines, and Thailand were among the 39 Member States that co-sponsored the resolution. As WHO develops this plan, the challenge lies in crafting a framework adaptable to countries with varying resources. Much of the existing rare disease policy framework was developed in wealthier countries with more established healthcare systems. While these models offer valuable lessons, they cannot be directly replicated in systems still building their foundations. ASEAN offers a unique perspective due to its diverse health systems within a single community.
The Philippines became the first ASEAN country to pass rare disease legislation in 2016, while Singapore has regulated orphan drugs since 1991. In 2025, Malaysia launched the National Policy for Rare Diseases, with nine priorities aimed at strengthening clinical governance, precision diagnostics, and access to treatment. Thailand has included certain rare diseases in its Universal Coverage Scheme and orphan medicines in its National List of Essential Medicines. Indonesia and Vietnam are enhancing capacity in screening, genomics, and referrals. Each country has pursued its own path, but collective progress is evident across the region.
This diversity highlights the importance of a regional platform. Rare diseases encompass thousands of conditions, and no single country can develop expertise and laboratories for all. For nations with smaller patient populations or limited specialist capacity, regional cooperation can extend scarce expertise. For patients near borders, the right specialist may be closer in a neighboring country than in their own capital. Proximity facilitates the movement of samples, connectivity of clinicians, patient referrals, joint training, and teleconsultation. Shared social, cultural, and health system realities mean lessons developed regionally are often directly applicable to neighboring countries.
To harness national efforts into regional strength, the Ministry of Health Malaysia, in collaboration with Asia Pacific Alliance of Rare Disease Organisations (APARDO), Rare Diseases International (RDI), AstraZeneca, Chiesi, and fellow ASEAN Member States, hosted the Southeast Asia Rare Disease Policy Forum in Putrajaya on November 7-8, 2025. Multi-stakeholder discussions brought together perspectives from patients, clinicians, health economists, and policy experts to identify practical collaboration areas, ranging from cross-border referrals and shared training to laboratories and more affordable diagnosis and treatment.
The momentum continued at WHA79 in Geneva in May 2026, where Malaysia and Thailand co-hosted the side event "From WHA Rare Disease Resolution towards an ASEAN Declaration." The Policy Forum Report was shared alongside an early preview of the draft ASEAN Rare Disease Declaration, advancing the Forum's recommendations to the next stage of regional discussions.
ASEAN still faces important gaps, as no Member State has a complete national rare disease registry, and in some countries, screening progresses faster than access to confirmatory diagnosis and treatment. Families may receive an answer but lack a clear pathway to care. ASEAN's experience demonstrates its vital role in shaping the global plan, offering a practical blueprint for progressive implementation in low- and middle-income countries. Collaboration can occur according to each country's readiness, with shared policies, expertise, and referral pathways. The region's experience underscores the importance of strengthening diagnosis, treatment, and financing collectively, ensuring patients have a pathway to care. Furthermore, ASEAN can provide evidence from health systems facing similar resource constraints, guiding governments on where limited funding can make the most significant impact.
As ASEAN Health Ministers prepare for the upcoming ASEAN Health Ministers' Meeting (AHMM) 2026 in Kuala Lumpur, the region has an important opportunity to elevate rare diseases on the regional health agenda. Member States are urged to advance this agenda and support strengthening the regional response to rare diseases. By integrating rare diseases into the ASEAN Strategic Health Agenda (ASHA) 2026-2030 and moving toward an ASEAN Rare Disease Declaration, Southeast Asia can transition from awareness to action, dialogue to implementation, and commitment to measurable care. Together, ASEAN will ensure that no person with a rare disease ever feels rare in care, policy, or heart, affirming that no life, however rare, is too small to matter.