About

The World Health Organization (WHO) defines rare disease, also known as orphan disease, as any disease which affects a small percentage of the general population. Although individually rare, collectively there are over 6000 types and this constitutes a large number of patients, who share many issues in common (EURORDIS, 2009). About 80% of rare diseases are genetic in nature while those that are caused by other factors such as exposure to environmental factors, chemicals during pregnancy, infections and rare cancers are not inherited. About 30% of rare disease patients die before the age of five. About 9% or 45 million people in South East Asia are afflicted by orphan diseases (Right Diagnosis, 2015). Examples of rare diseases include inherited metabolic diseases such as lysosomal storage diseases; neuromuscular diseases such as Duchenne muscular dystrophy and spinal muscular atrophy; blood diseases such as haemophilia; bone disorders such as brittle bone disease and achondroplasia; and adult-onset diseases such as Huntington’s disease and motor neurone disease.

Rare disease is not officially defined in Malaysia. Malaysian Rare Disorder Society (MRDS), rare disease is defined as disease that affects less than 1 in 4000 individuals in a community.

As per a recent study by School of Pharmaceutical Sciences, Universiti Sains Malaysia and University Malaya Medical Centre, only 60% of the rare disease patients are receiving treatment in Malaysia. There are several reasons as to why rare disease patients have problems accessing affordable drugs, such as:

•  Lack of formal definition for rare diseases in Malaysia which complicates its effective monitoring and management. Consequently, no epidemiological study or registry exists which can be used as a baseline data for further action
• Lack of experienced clinicians and diagnostic equipment in Malaysia. Most of the facilities are available in Kuala Lumpur (KL) and in very few visiting hospitals
• Lack of orphan drugs due to high cost (may cost > RM 1 million per year (USD $240,855)

Malaysia is one of the few countries in the SEA region which provides public subsidies for rare diseases such as for ERT. The cost of treatment for ERT in Malaysia for a single patient can cost between RM 500,000 to RM 1 million per year. At present, funding for treatment is contingent on charities, public and industrial subsidy or OOP payments. Malaysian government also provides dedicated funds to gain access to orphan drugs and special milk formula needed to treat rare inborn error of metabolism. However, even with the availability of innovative drugs being developed, they are often not registered with the Health Ministry’s Medicine Formulary but can be provided via special approvals on a case-by-case basis.

A small number of patients does not mean it is not important or not serious. These unfortunate patients also have their right as Malaysians to get the optimum treatment for their condition. These patients, once treated, are able to be productive and useful members of society. Despite their difficulties, some have successfully furthered their studies to university.