Hospital Kuala Lumpur & Rare Disease Patient Organizations Nationwide Celebrate Rare Disease Day 2025

For the first time, Hospital Kuala Lumpur (HKL) is proudly hosting the annual Rare Disease Day 2025 celebration to raise awareness and advocate for individuals affected by rare diseases in Malaysia. This milestone event is organized by the Department of Genetics, Hospital Kuala Lumpur, in collaboration with Pharm-D Health Science, the main sponsor, alongside various patient advocacy groups.

With the theme “More Than You Can Imagine”, this global initiative aims to highlight the challenges faced by rare disease patients, including delays in diagnosis, limited access to genetic testing, and the high cost of treatment.

Speaking at the event, Dato’ Dr. Harikrishna a/l K. Ragavan Nair, Director of Hospital Kuala Lumpur, emphasized the need for stronger policies and diversified funding options to improve access to genetic testing and treatment for rare disease patients.

“Rare diseases impact more individuals than we realize – 1 in 17 people worldwide. This means that each of us likely knows someone living with a rare disease, whether they are a family member, a colleague, or a friend. Today’s event is not just a celebration but a movement that brings together healthcare professionals, researchers, policymakers, patient advocacy groups, and industry leaders to work towards better diagnosis, treatment, and quality of life for these patients,” said Dato’ Dr. Harikrishna.

This year’s Rare Disease Day celebration emphasizes the need for equity in healthcare, support, and opportunities for the rare disease community in Malaysia. With many Malaysians affected by rare diseases, ensuring fair access to timely diagnosis, treatment, and social inclusion is more crucial than ever.

Head of the Genetics Department Hospital Kuala Lumpur, Dr. Ngu Lock Hock, further underscored the importance of collective efforts in supporting rare disease patients. “Malaysia officially defined rare diseases in 2020 as life-threatening or chronically debilitating conditions affecting fewer than 1 in 4,000 individuals. Over 70% of rare diseases are genetic, and many cases involve children. At HKL’s Genetics Department, we have provided consultations to over 10,000 families and conduct around 1,000 genetic tests annually.

These efforts are made possible through the strong support and commitment of the Ministry of Health, Hospital Kuala Lumpur, Hospital Tunku Azizah, as well as collaborations with various departments, NGOs, patient organizations, industry partners, and the private sector. Moving forward, strengthening these collaborations will be key to improving timely diagnosis and expanding access to treatment for rare disease patients,” he shared.

As part of the initiative to improve rare disease awareness, the event also marked the launch of three new books tailored for patients and caregivers: “Buku Resipi Rendah Protein untuk Pesakit Inherited Metabolic Disorders (IMD)”, produced through a collaboration between HKL’s dietitians and the Genetics Department, with printing support from Pharm-D Health Science. “Pengembaraan Morquio A” and “Mia & Penjelajahan MPS 6”, engaging comic-style books that are designed to help children with Morquio Syndrome and Mucopolysaccharidosis type 6 (MPS VI) to better understand their condition.

Pharm-D Health Science supported this event through its JARANG Program, a corporate social responsibility (CSR) initiative aimed to raise awareness, provide support, and empower individuals and families affected by rare diseases in Malaysia. Mr. Wong Chin Cheang, Managing Director of Pharm-D Health Science, expressed the company’s commitment to bridging healthcare gaps in the rare disease community.

“Pharm-D Health Science believes in empowering the rare disease community through innovation and collaboration. Through the JARANG Program, we are dedicated to supporting awareness campaigns like today’s event. Together, we can drive meaningful change and make a lasting impact on patients’ lives,” said Mr. Wong.

A highlight of the event was the mock cheque handover ceremony, where AGTC Genomics sponsored and Pharm-D Health Science supported the contribution of RM75,000 worth of whole exome sequencing (WES) tests for underprivileged patients. This funding will enable critical genetic testing, which is often a significant financial burden for affected families.

As the event concluded, Dr. Ngu called for continued collaboration to improve the lives of rare disease patients. “Together, we can make a difference – by listening, understanding, and taking action to bring hope to the rare disease community.”