The HEALTH | January-February . 2025

Hospital Kuala Lumpur and Pharm-D Health Science join forces for rare disease advocacy

This landmark event aimed to raise awareness and advocate for individuals affected by rare diseases across Malaysia . Organised by the Department of Genetics at HKL , the event was made possible through the generous sponsorship of Pharm-D Health Science and the collaboration of various patient advocacy groups .

The global theme for this year ,“ More Than You Can Imagine ,” was chosen to spotlight the numerous challenges faced by patients living with rare diseases . These include significant delays in diagnosis , limited access to essential genetic testing , and the often prohibitive costs associated with treatment .

CALL TO ACTION

Opening the event , HKL Director Datuk Dr Harikrishna K . R Nair delivered a compelling address that underscored the urgency of addressing the needs of rare disease patients .

He highlighted the fact that rare diseases impact more individuals than many realise , with statistics indicating that 1 in 17 people worldwide are affected . “ 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 .”

Dr Harikrishna articulated the event ’ s dual purpose : “ 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 .”

His call for stronger policies and diversified funding options resonated throughout the gathering , emphasising the need for improved access to genetic testing and treatment .

EMPOWERING PATIENTS & CAREGIVERS

The celebration also served as a platform to advocate for equity in healthcare for the rare disease community in Malaysia . With a significant number of Malaysians suffering from various rare diseases , it is imperative to ensure fair access to timely diagnosis , effective treatment , and social inclusion .

HKL Genetics Department Head Dr Ngu Lock Hock further emphasised the importance of collective efforts in supporting patients with rare conditions .

“ Malaysia officially defined rare diseases in 2020 as life-threatening or chronically debilitating conditions affecting fewer than 1 in 4,000 individuals . Over 70 per cent of rare diseases are genetic , and many cases involve children .”

Dr Ngu noted that the Genetics Department at HKL has provided consultations to over 10,000 families and conducts approximately 1,000 genetic tests annually .

He acknowledged the critical support from the Ministry of Health ( MoH ), HKL , Hospital Tunku Azizah , and various NGOs , patient organisations , and industry partners .

“ Moving forward , strengthening

From Left : HKL Genetics Department Head Dr Ngu Lock Hock , Hospital Tunku Azizah Director Dr Shamsul Anuar Kamarudin , HKL Director Datuk Dr Harikrishna K . R Nair , AGTC Genomics CEO Prof Leong Chee Onn , and Pharm-D Health Science Managing Director Wong Chin Cheang . these collaborations will be key to improving timely diagnosis and expanding access to treatment for rare disease patients ,” Dr . Ngu stated , highlighting the need for a united front in addressing these challenges .

As part of the initiative to enhance awareness about rare diseases , the event featured the launch of three new books aimed specifically at patients and caregivers .

The first , “ Buku Resipi Rendah Protein untuk Pesakit Inherited Metabolic Disorders ( IMD ),” was produced through a collaboration between HKL ’ s dietitians and the Genetics Department , with printing support from Pharm-D Health Science .

The other two , “ Pengembaraan Morquio A ” and “ Mia & Penjelajahan MPS 6 ,” are engaging comic-style books designed to help children with Morquio Syndrome and Mucopolysaccharidosis type 6 ( MPS VI ) understand their conditions more effectively .

COLLABORATION FOR HOPE

Pharm-D Health Science played a vital role in supporting the event through its JARANG Programme , a corporate social responsibility initiative aimed at raising awareness and providing support to individuals and families affected by rare diseases in Malaysia .

Pharm-D Health Science Managing Director Wong Chin Cheang expressed the company ’ s commitment to bridging the healthcare gaps within the rare disease community .

“ Pharm-D Health Science believes in empowering the rare disease community through innovation and collaboration . Through the JARANG Programme , 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 .”

A memorable highlight of the day was the mock cheque handover ceremony , during which 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 generous funding will enable crucial genetic testing , alleviating a significant financial burden for many affected families .

Dr Ngu reiterated the importance of 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 .”

The inaugural Rare Disease Day celebration at Hospital Kuala Lumpur not only marked a significant step forward in raising awareness but also strengthened the commitment among stakeholders to advocate for better diagnosis , treatment , and support for those living with rare diseases in Malaysia . – The HEALTH