Dato’ Dr Mohd Azman bin Yacob (MOH Medical Development Division Director), Dr. Shamsul Anuar bin Kamarudin (Pengarah Hospital Tunku Azizah), Dr. Ngu Lock Hock (Head of Department of Genetics, Hospital Kuala Lumpur), Nadiah Hanim binti Abdul Latif (President of Malaysian Rare Disorders Society) and Mr. Wong Chin Cheang (Managing Director of Pharm-D Health Science) alongside patients, caregivers and patient advocates at a Rare Disease Table Talk session in conjunction with the Rare Disease Day event.

Kuala Lumpur, 28 February 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.

Pharm-D Health Science supported this event through its JARANG Program, a corporate social responsibility (CSR) initiative by the company 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.

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.

Joy and laughter fill the air as rare disease patients enjoy engaging activities at the Rare Disease Day booth exhibition, sharing smiles and fun moments with the clown.

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.

Heartwarming moments unfolded as attendees were moved by the joyful and resilient spirit of rare disease patients in the Nice to Meet You Rare Disease awareness video by Program JARANG, a CSR initiative by Pharm-D Health Science.

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.

Dato’ Dr. Harikrishna K. R Nair (Pengarah Hospital Kuala Lumpur), Dr. Shamsul Anuar bin Kamarudin (Pengarah Hospital Tunku Azizah), Dr. Ngu Lock Hock (Head of Department of Genetics, Hospital Kuala Lumpur), and Mr. Wong Chin Cheang (Managing Director of Pharm-D Health Science) together with rare disease patients, caregivers, patient advocates, and healthcare professionals at the Rare Disease Day 2025 celebration.

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, as well as “Pengembaraan Morquio A” and “Mia & Penjelajahan MPS 6”, engaging graphic books designed to help children with Morquio Syndrome and Mucopolysaccharidosis type 6 (MPS VI) to better understand their condition.

From left to right: Pn Basmawati binti Baharom (Head of Dietetics and Food Services), Dr. Ngu Lock Hock (Head of the Department of Genetics, Hospital Kuala Lumpur), Mr. Wong Chin Cheang (Managing Director, Pharm-D Health Science), Dato’ Dr. Harikrishna K. R. Nair (Director, Hospital Kuala Lumpur), Dr. Shamsul Anuar bin Kamarudin (Director, Hospital Tunku Azizah), and Ms. Erin Koek (Senior Country Manager, BioMarin) at the launch of three (3) Rare Disease Books, providing valuable information for rare disease patients and caregivers.

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.

From the right: Mr. Wong Chin Cheang (Managing Director of Pharm-D Health Science) and Prof Leong Chee Onn (CEO of AGTC Genomics) presenting a Whole Exome Sequencing genomic tests sponsorship worth RM 75,000 to Dr. Ngu Lock Hock (Head of Department of Genetics, Hospital Kuala Lumpur) (Left), witnessed by Dato’ Dr. Harikrishna K. R Nair (Pengarah Hospital Kuala Lumpur) and Dr. Shamsul Anuar bin Kamarudin (Pengarah Hospital Tunku Azizah).

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.”

Press and media members such as Sin Chew Daily and Berita RTM were also present to cover the event. It was also featured in The Malaysian Reserve, Vulcan Post and Yahoo News.

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