As Parliament convenes the Symposium on Children’s Rights Legislative Reform this week, much of the conversation will understandably focus on child protection, education, welfare, and access to health care.
Yet one issue receives far less attention: whether we are generating the evidence needed to fulfil those rights.
One group of children remains largely invisible in many policy conversations: children living with rare diseases. Their invisibility is not merely social. It is scientific.
For many of these children, the greatest barrier to better health may not be the absence of medicines, specialists, or even funding. It may be the absence of evidence itself.
This raises an important but seldom asked question: do children have a right to research?
At first glance, the question may seem unusual. Research is often viewed as a scientific enterprise, while rights are seen as legal or ethical entitlements. Yet the two are more closely connected than many realise.
Rights cannot be delivered through good intentions alone. They require evidence.
A child’s right to health, for example, requires evidence on how diseases can be diagnosed, prevented, treated, and managed.
Policymakers need evidence to allocate resources. Clinicians need evidence to make treatment decisions. Families need evidence to make informed choices.
A right without evidence is often a right that cannot be fully realised. This challenge is particularly acute in rare diseases.
While each rare disease affects only a small number of individuals, collectively rare diseases affect millions of people worldwide. Most rare diseases begin in childhood.
Many are severe, progressive, and life-limiting. For some Malaysian children with conditions such as spinal muscular atrophy, Duchenne muscular dystrophy, or rare inherited metabolic disorders, childhood can become a prolonged search for answers, as families navigate years of uncertainty before receiving a diagnosis and appropriate care.
Even after diagnosis, uncertainty often persists. Many rare diseases have limited treatment options.
Clinical studies may involve only small numbers of patients. Long-term outcomes are frequently unknown. Evidence generated in high-income countries may not always translate directly into the realities of health care systems in low- and middle-income countries.
In Malaysia, significant progress has been made. Clinical services have expanded, advocacy groups have become increasingly active, and policymakers have shown growing interest in improving rare disease care. Yet major evidence gaps remain.
We still lack comprehensive data on the prevalence and burden of many rare diseases in Malaysia. We know relatively little about the experiences of affected families, barriers to diagnosis, access to services, and long-term social and economic consequences.
As new therapies emerge globally, questions also arise regarding effectiveness, affordability, implementation, and equitable access within the Malaysian context.
For example, when highly specialised therapies become available overseas, policymakers must determine whether they are safe, effective, affordable, and feasible to deliver within Malaysia’s health system. Without local evidence, these decisions become far more difficult.
These are not merely academic questions. They influence real-world decisions that affect children’s lives.
Traditionally, discussions about children and research have focused on protection. Ethical safeguards are designed to ensure that children are not exposed to unnecessary risks. This emphasis is entirely appropriate and must remain a cornerstone of research ethics.
However, there is another side to the story.
Children can be harmed not only by unethical research, but also by the absence of research.
When children are systematically excluded from research agendas, evidence remains scarce.
When evidence remains scarce, uncertainty persists. When uncertainty persists, diagnosis may be delayed, services may be fragmented, and treatments may remain inaccessible.
In the context of rare diseases, exclusion from research can become exclusion from evidence. Exclusion from evidence can become exclusion from care.
This is particularly concerning because children with rare diseases often face a double disadvantage.
First, they live with conditions that are frequently complex, lifelong, and poorly understood. Second, the rarity of their conditions means they may attract less research attention than more common diseases.
A purely market-driven approach to research risks reinforcing this disadvantage. Conditions affecting larger populations naturally attract greater investment and generate more evidence. Rare diseases, by definition, struggle to compete for attention.
A rights-based perspective leads us to ask a different question.
Instead of asking whether a disease affects enough people to justify investment, we should ask whether every child deserves a fair opportunity to benefit from advances in science and medicine.
From this perspective, research is not merely a scientific activity. It is part of the infrastructure required to realise children’s rights.
Just as governments invest in schools to fulfil the right to education and hospitals to fulfil the right to health, they should also invest in the systems that generate knowledge: research funding, disease registries, genomic initiatives, implementation studies, and collaborative research networks.
These investments are especially important for rare diseases, where evidence generation is often difficult, costly, and dependent on long-term commitment.
As Malaysia considers reforms to strengthen children’s rights, this broader understanding deserves attention.
Protecting children from harm remains essential. But protection alone is not enough. We must also ensure that children are not forgotten by the systems that generate knowledge, innovation, and evidence.
For children living with rare diseases, the right to health cannot be separated from the evidence needed to make that right meaningful.
Perhaps it is time to recognise that among the many rights we seek to protect for children, there is another that deserves consideration: the right not to be left behind by research.
Teguh Haryo Sasongko is a rare disease researcher based at IMU University. He was Priority Area Advisor for Rare Diseases and Member of the Technical Working Group in the 13th Malaysia Plan Health Research Priorities. He is also a recipient of the Global Forum on Bioethics in Research (GFBR) Fellowship on creating ethical framework for rare disease research prioritization, organised and funded by the World Health Organization (WHO).
- This is the personal opinion of the writer or publication and does not necessarily represent the views of CodeBlue.
