In a significant display of dedication to the cause of universal health coverage for individuals living with rare diseases, the Minister of Health Malaysia, Dr. Zaliha Mustafa, emphasized Malaysia’s unwavering commitment to providing comprehensive care for those affected. Dr. Mustafa, during a UN Side-Event, shed light on Malaysia’s efforts to implement a blueprint for achieving Universal Health Coverage, with a particular focus on persons living with rare diseases.
Establishing the National Rare Disease Committee in 2018, as part of the National Framework for Rare Diseases, marked a pivotal step in Malaysia’s journey toward enhancing the quality of life for individuals grappling with rare diseases. This committee brings together experts from various sectors, including the government, healthcare professionals, and patient advocates, to comprehensively manage rare diseases.
A recent media forum brought together a group of experts, each of them contributing their insights and expertise in the fight against rare diseases. The panel comprised Professor Dr. Thong Meow Keong, Consultant Clinical Geneticist at the Department of Paediatrics, University Malaya Medical Centre; Dr. Ngu Lock Hock, Head of the Department of Genetics at Hospital Kuala Lumpur; Azrul Mohd Khalib, Founder and Chief Executive Officer of the Galen Centre for Health and Social Policy; and Puan Nadiah Hanim binti Abdul Latif, President of the Malaysian Rare Disorders Society.
The focus of the media forum was to discuss the importance of a multifaceted approach to tackling Neurofibromatosis Type 1 (NF1) and to raise awareness about this rare, multisystem disorder characterized by symptoms such as tumors on nerve tissue.
Key Takeaways from the event include:
Neurofibromatosis Type 1 (NF1) is a multisystem disorder marked by the development of tumors on nerve tissue, skin pigmentation changes, and various potential complications affecting different bodily systems. The disease can manifest early in life, with an estimated 1 in 3,000 children being diagnosed with NF1 globally.
Expert guidance for diagnosis
Professor Dr. Thong Meow Keong stressed the importance of establishing a working group of experts to refine the diagnosis of NF1. This is a crucial step in improving the management of the disease and ultimately achieving better patient outcomes. To support this, policy changes are needed in the approach to rare diseases, including decentralizing funding, services, and resources to ensure equitable healthcare in Malaysia. Additionally, enhancing medical training to produce more specialists in rare diseases and providing recognition and positions for genetic counselors are essential.
Ecosystem approach to rare diseases
Azrul Mohd Khalib, Founder and CEO of the Galen Centre for Health and Social Policy, emphasized the need for policy changes that foster an ecosystem approach to managing rare diseases and providing access to treatment. Such changes are crucial to ensure that patients with rare diseases have better health outcomes.
Puan Nadiah Hanim binti Abdul Latif, President of the Malaysian Rare Disorders Society (MRDS), highlighted the importance of continued collaboration between patient groups, healthcare professionals, and all stakeholders involved. This collaboration is essential to enhance the patient journey, from early and accurate diagnosis to treatment and beyond. MRDS remains committed to working with all stakeholders to uphold the right to health and well-being for individuals living with rare diseases and their families in Malaysia.