Taking stock of rare disease

  • Letters
  • Thursday, 01 Mar 2018

WORLD Rare Disease Day (WRDD) was celebrated yesterday. An annual commemoration initiated by the European Organisation for Rare Diseases, WRDD was celebrated for the first time on Feb 29, 2008. (Feb 29 is the actual date.)

Today, more than 70 countries, including Malaysia, celebrate WRDD on the last day of February to raise awareness among the general public and decision makers about rare diseases and their impact on the lives of patients.

On this day, we take the opportunity to revisit our achievements and make new commitments for the betterment of care to rare disease patients.

Rare disease is a group of diseases characterised by low prevalence and are chronically debilitating and life-threatening. The World Health Organization defines rare disease as “any disease that has prevalence of between 0.65 and one per cent of the population, and the diagnosis and treatment are complicated”.

Unfortunately, rare disease often suffers from severe disproportion of treatments, resources as well as expertise compared to other diseases in the healthcare system.

A major challenge in treating the disease is making treatment accessible to the patients.

In our recent study, we found that only about 60% of rare disease patients in Malaysia are receiving treatment. For those who aren’t, it could be because no treatment is available yet in Malaysia for their condition, they are still in the waiting list, or they are not able to start treatment yet.

Most rare disease patients only need supplements or simple medications which are readily available. However, there are also some conditions that need very rare medication (generally called orphan drug), for example lysosomal disorders such as mucopolysaccharidoses.

There are several factors contributing to this situation. Firstly, there is a lack of formal definition for rare disease in Malaysia, and this complicates effective monitoring and regulation of its management. Consequently, we do not have an epidemiology study or registry available to use as baseline data for further action.

Secondly, there is a lack of experienced doctors and diagnostic equipment in our country. Most of them are concentrated in Kuala Lumpur and there are very few in visiting hospitals.

Finally, we lack the drugs required, especially orphan drugs which can cost a patient more than one million ringgit per year.

As our resources are limited, some of the patients have been waiting for two to three years to receive treatment.

It is therefore reassuring that the Govern­ment has taken the welfare of rare disease patients seriously. A fund of more than RM10mil has been allocated under Budget 2018 to treat rare disease with orphan drugs at the Hospital Kuala Lumpur’s genetic clinic.

This amount is still far from enough for all patients but it is a good start for both the genetic clinic team and patients.

There is also a growing number of patient advocacy groups championing the rare disease issues. Over the last 10 years, rare disease advocates like Malaysian Rare Disorders Society, Malaysia Lysosomal Diseases Association Spinal Muscular Atrophy Malaysia, We Care Journey and Malaysia Metabolic Society have been actively fighting for the welfare of rare disease patients. They hold awareness campaigns in the community and through the print, electronic and social media.

They also produce information booklets, organise charity fund-raising activities and attend international conferences on rare disease. Pharmaceutical companies, other NGOs and generous individuals are also supporting the rare disease programmes.

We still have a long journey ahead in ensuring that rare disease patients have access to healthcare. However, the impetus must come from policymakers and all healthcare providers and not just from those who are directly involved in managing rare disease.

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. Others are in full-time employment and have families of their own. Some are actively involved in sports and represented Malaysia in the SEA Paralympic Games in Kuala Lumpur last year.

We are on the right track in improving care for rare disease patients. Hopefully, we can continue the momentum and celebrate more success on Feb 28 next year.



School of Pharmaceutical Sciences, Universiti Sains Malaysia, Penang


Genetic Medicine Unit, University Malaya Medical Centre

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