Challenges and Recommendations

Lack of Recognition and Inclusiveness

Rare disease patients in Europe are represented by the European Organisation for Rare Diseases (EURORDIS), a non-governmental patient-driven alliance of over 761 rare disease patient organisations in 68 countries. EURORDIS defines rare diseases as those affecting less than five people in 10,000 of the general population (EURORDIS, 2009). Meanwhile, the United States of America (USA) defines a disease as rare if it affects less than 200,000 persons out of the total population. In Taiwan, rare diseases are acknowledged not in terms of their prevalence but by their inclusion in the Rare Disease registry by name.

In Malaysia, thus far there is no official definition as to what is regarded as a rare disease. As the first step to providing a definition for local families, the Malaysian Rare Disorders Society (MRDS) has decided upon a classification on the basis of prevalence, that is, one in every 4,000 people of the general population. Having an official and accurate definition is paramount to addressing a multitude of issues faced by families living with rare diseases in Malaysia. For example, not having a clear definition leads to many issues with indifference from the policy makers, inadequate healthcare provisions and restricted access to crucial life-changing medication.

Rare diseases tend to draw the short straw in the current climate of competing healthcare resources.As they are presumed to only affect a very small number of Malaysians and are considered as non-communicable diseases, little attention is paid to these diseases and there is limited data, if any, on their prevalence and burden in Malaysia. In 2016, the Malaysian Ministry of Health (MOH) published the National Strategic Planning for Non-Communicable Diseases (NCDs) 2016-2025 where the report focused on lifestyle risk factors such as hypertension, obesity, cancer and hypercholesterolemia, as well as control of tobacco use, salt and alcohol consumption (Ministry of Health Malaysia, 2016). Indeed, there was no data on NCDs for segments of the population below 15 years old nor strategic planning for control and treatment needed for rare diseases in Malaysia. In addition, Malaysia currently spends only 2% of GDP on healthcare.Therefore, there is an urgent need to address the shortcomings of the national strategy especially the lack of funding in healthcare services. Proper acknowledgement of rare diseases, beginning with an official definition and recognition as a national healthcare issue, will help to garner more attention towards these conditions in addition to providing support for the patients and families. Although rare diseases are characterised by their low prevalence individually, in reality these conditions collectively impact the lives of a large number of Malaysians as patients and caregivers are faced with the financial, psychological and social burden. Many who suffer from rare diseases often feel isolated, uncared for and vulnerable. Being properly recognised as a serious healthcare matter and making rare diseases an inclusive issue will help to garner more awareness and respect for these individuals. 

One in every 4,000 people of the general population