"Mind over matter" is a common phrase used to push through daily challenges, such as waking up early despite feeling exhausted, completing a tough workout, or enduring a stressful day at work. However, for those born with psychological or physical challenges, it’s easier said than done.
Rare Disease Day is an official international awareness-raising campaign held annually at the end of February. It was first established in 2008 by EURORDIS and its Council of National Alliances. Malaysia recognized Rare Disease Day in 2010, primarily through the Malaysia Rare Disease Society (MRDS), a non-profit organization guided by the Genetic Unit of the Department of Paediatrics at University Malaya Medical Centre. MRDS strongly advocates for and oversees the welfare of individuals and families living with rare disorders (MRDS, 2024).
Rare Disease Day is a time to honor the resilience of individuals who continue to fight despite their challenges. In addition to advocating for and raising awareness about the rare diseases these individuals face, the day highlights the struggles rare disease patients experience, such as delays in diagnosis, limited access to genetic testing, and high treatment costs.
This year’s Rare Disease Day observance emphasizes the need for stronger policies and alternative funding options to improve access to genetic testing and treatments. It also sheds light on the importance of inclusive education and employment opportunities for disadvantaged individuals.
This message is further reinforced by this year’s theme, “More Than You Can Imagine,” which focuses on empowering and supporting individuals and families affected by rare diseases. We will explore some of the rare diseases discussed on this day, including Maroteaux-Lamy syndrome (MPS VI), Maple Syrup Urine Disease (MSUD), and others.
MPS VI is a condition that affects the skeletal, cardiac, and respiratory systems due to inflammation and the deterioration of tissues or organs. Typically, people with MPS VI don’t show symptoms until early childhood. The condition is caused by a mutation in the arylsulfatase B (ARSB) gene, which produces an enzyme needed to break down large sugar molecules. When this gene malfunctions, the enzyme is deficient, leading to a toxic buildup of sugar that causes waste to accumulate inside cells instead of being broken down and removed. However, this does not affect the growth of cognitive abilities (MedlinePlus, 2021).
MSUD, another rare metabolic disorder, prevents the body from processing certain protein building blocks (amino acids). As a result, individuals with MSUD cannot consume excess protein. Newborns with MSUD show symptoms like poor feeding, vomiting, lethargy, and maple-syrup-like-smelling urine. Without treatment, individuals may experience developmental delays, seizures, or even coma. A liver transplant can be a potential solution, but it’s a high-risk procedure (Burgard & Wendel, 2017).
Other rare diseases include Albinism, Dwarfism, Spinal Muscular Atrophy (SMA), Williams Syndrome, and Lysosomal Storage Disease (LSD).
Most of these disorders are inherited mutations. Even though we may appear healthy, it’s possible to be carriers of a disease-causing gene. Society should refrain from ostracizing people with visible or invisible disabilities, as we may carry recessive genes for rare diseases. Instead of criticizing and mocking people for their natural differences, we should embrace them and treat them with empathy. Our identity is defined by our dreams, goals, and emotions, not by our disabilities.
HKL & Rare Disease Patient Organizations Nationwide Celebrate Rare Disease Day
For the first time, Hospital Kuala Lumpur (HKL) hosted the Rare Disease Day 2025 celebration to raise awareness and advocate for individuals affected by rare diseases in Malaysia. This milestone event was organized by the Department of Genetics at Hospital Kuala Lumpur, in collaboration with Pharm-D Health Science, the main sponsor, and various patient advocacy groups.
This year’s Rare Disease Day celebration emphasized 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.
As part of the initiative to improve rare disease awareness, the event also marked the launch of three new books for patients and caregivers: “Buku Resipi Rendah Protein untuk Pesakit Inherited Metabolic Disorders (IMD),” produced in collaboration with 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 designed to help children with Morquio Syndrome and Mucopolysaccharidosis Type 6 (MPS VI) better understand their condition.
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, a significant financial burden for affected families.
