KUALA LUMPUR – In an effort to raise awareness and educate Malaysians on the challenges faced by those living with rare diseases, University Malaya Medical Centre (UMMC) took its Rare Disease Day 2025 campaign beyond hospital walls and held an event at Sunway Velocity Mall recently.
The event, jointly organised by the Malaysian Genetic Counseling Association with support from various stakeholders, including the Malaysian Rare Disorders Society (MRDS), AstraZeneca, Spinal Muscular Atrophy Malaysia (SMAM), and many others, saw hundreds of visitors engaging in educational exhibits, expert talks, and patient support sessions.
With the theme "More Than You Can Imagine”, the event aligns with the increasing number of rare disease cases, now estimated to reach 10,000 people in Malaysia.
The event aimed to shed light on the real-life struggles of patients, raising awareness about conditions like spinal muscular atrophy (SMA), metabolic diseases, rare cancers, and other genetic disorders—many of which can now be detected at birth or during pregnancy through non-invasive screening.
UMMC Director Professor Dr Nazirah Hasnan stressed the importance of early intervention and diagnosis, which can significantly improve treatment outcomes.
"Rare diseases are not just statistics. They involve real individuals with aspirations, hopes, and struggles far greater than we can imagine,” she said.
"By bringing this event to a public space, we hope to increase awareness and encourage early screening for rare conditions, allowing for timely medical intervention,” she added.
She highlighted spinal muscular atrophy (SMA) as a prime example. While previously considered untreatable, SMA is now more manageable with early detection and treatment.
Genetic Medicine Unit head Dr Tae Sok Kun stressed the urgency of seeking expert medical advice and undergoing early screening for rare diseases.
"Many patients often go undiagnosed until it is too late, which can lead to serious complications or even death if not treated properly,” he said, highlighting the critical need for early intervention.
The event also featured first-hand accounts from patients living with rare diseases.
Among them was Miza Marsya Roslan, a 27-year-old SMA Type 2 patient, who stressed the importance of raising public awareness and increasing access to early intervention.
"Support groups like the Rare Disease Society help patients like me navigate life’s challenges more smoothly,” she said.
"This is not just an event—it’s a movement. We are committed to standing by this community, educating the public, supporting patients, and expanding access to life-changing treatments,” said Dr Nazirah.