As the mother of a child born with a rare skin disease, I know the reality that thousands of Malaysian families face every day: long searches for answers, uncertainty over treatment, and the emotional and financial strain of constant care.
Each new diagnosis often comes with a sense of helplessness, because our health system has yet to provide a clear care pathway for rare diseases.
This is why the pre-launch of the Malaysia Rare Disease Policy on August 27, 2025, was so important. For the first time, rare diseases have been recognised at the national policy level, a milestone that families and patient groups have waited years to see.
But a policy is only as strong as its implementation, and now the urgent task is to move from symbolic recognition to real action.
Why The Policy Matters
Families affected by rare diseases face unique and overwhelming challenges: delayed or uncertain diagnoses, limited access to treatment, heavy financial strain, fragmented care pathways, and psychosocial pressures, including stigma and caregiver burnout.
The pre-launch is therefore a step in the right direction. But unless the policy is implemented with funding, timelines, and accountability, families will continue to struggle.
A Human Story
For many families, the diagnosis of a rare disease comes with their first child. Parents enter parenthood full of hope, only to be met with confusion, fear, and a sense of helplessness.
Each time a new rare disease case is born, families find themselves blurred and lost, facing a system without a clear care pathway. Doctors and nurses may do their best, but they come and go, while the burden on families remains.
What should stay is a system that guides, supports, and protects patients and caregivers throughout their journey.
For those living with Epidermolysis Bullosa (EB), the challenges are especially heavy. Daily wound care, risk of infection, and the relentless financial and emotional strain weigh on both patients and caregivers.
Families are not simply looking for a cure – they are fighting to give their children a chance to live longer, with dignity and a better quality of life.
Gaps In The Framework
The pre-launch signals recognition, but several critical gaps must be addressed:
Representation Gap: Limited Patient Advocacy Group (PAG) involvement risks excluding many conditions.
Roadmap Gap: No clear timelines, milestones, or budgets.
Access Gap: Genetic testing is still mostly overseas, treatments unaffordable.
Support Gap: Psychosocial and caregiver support not integrated.
Financing Gap: No dedicated funding mechanism.
Data Gap: No national registry or biobank.
Why Pre-Launch?
The unusual ‘pre-launch’ term reflects urgency and recognition, but the policy remains a framework.
To become actionable, it must:
- Be published in detail for consultation.
- Outline clear milestones and accountability.
- Secure funding commitments.
- Engage all PAGs and clinicians.
Learning From Asean
Rare diseases are a global issue, and Malaysia can learn from ASEAN neighbours:
The Philippines: Rare Diseases Act (2016).
Thailand: Coverage under UHC.
Singapore: Targeted financing for rare diseases.
Malaysia too has progress to build on: the Malaysia Rare Disease Policy (pre-launch, 2025), active PAGs, early collaborations on epidemiology studies and newborn protocols, and the formation of the Rare Disease Coalition.
Global Alignment
Malaysia’s policy should align with global commitments:
- The World Health Organization (WHO) Resolution on Rare Diseases adopted at the 77th World Health Assembly (WHA77) in 2024.
- The strengthened resolution at WHA78 in 2025, which called for a 10-year Global Action Plan and measurable targets.
Funding For Life And Dignity
A policy without financing is only words on paper. For rare diseases, funding is not a luxury; it is about life and dignity. Families cannot keep depending on ad-hoc fundraising.
Malaysia needs a dedicated Rare Disease Fund, supported by:
- Government allocations.
- CSR and social investment.
- Zakat and social financing.
- Public–private partnerships.
Progress Of The Coalition
The Rare Disease Coalition has been built step by step, with transparency:
- August 20, 2025: The Ministry of Health (MOH) met with selected PAGs.
- August 22, 2025: Invitation issued to all PAGs.
- August 24, 2025: First Working Group meeting with seven PAGs, namely DEBRA Malaysia (Dystrophic Epidermolysis Bullosa Research Association Malaysia), PERKID (Persatuan Kebajikan Ichthyosis Malaysia), PERSIS (Persatuan Ichthyosis Support), MYPOPI (Malaysian Primary Immunodeficiency Network), Haemophilia Society of Malaysia, WeCareJourney: Spinal Muscular Atrophy (SMA), and MND Malaysia: Motor Neuron Disease.
An interim committee was then appointed.
- August 28, 2025: Circulation of EOI and Concept Note to all PAGs.
- September 19, 2025: Next meeting to finalise a draft MOU.
A Call To Action
The Coalition urges the following:
- Inclusive consultation with all PAGs.
- Publication of drafts for transparency.
- Funding commitments to make policy real.
- Monitoring mechanisms with annual reporting.
- Global and Asean alignment to strengthen implementation.
Conclusion
The pre-launch of the Malaysia Rare Disease Policy is a milestone, but now it must become a living, actionable policy.
We imagine a future where:
- Every child receives timely diagnosis.
- Families have affordable treatment and support.
- No patient feels alone.
Malaysia has the chance to be a regional leader in Asean. The Rare Disease Coalition stands ready to partner with MOH, academics, and international colleagues to make this vision a reality.
Saida Abu Bakar is the president of DEBRA Malaysia (Dystrophic Epidermolysis Bullosa Research Association Malaysia), and a member of the interim committee of the Rare Disease Coalition.
- This is the personal opinion of the writer or publication and does not necessarily represent the views of CodeBlue.
