The politics surrounding healthcare issues are often extremely diverse, divisive and complex. All we need to do is look at the United States’ ongoing debate over the Affordable Care Act, the United Kingdom’s reform of its National Health Service and our own efforts here in Malaysia. There is often much controversy, turbulence, and time-consuming rhetoric and hand-wringing. There is no cookie cutter approach or shortcut to be taken.
With rapid unplanned urbanisation, demographic ageing and increasingly unhealthy lifestyles, the multiple disease burdens faced by our healthcare system, especially from non-communicable diseases, are significant and considerable.
The Health Ministry estimates that there are between two and three million Malaysians with chronic kidney disease, 3.5 million with diabetes, and more than 100,000 with cancer. Cardiovascular disease was the principal cause of death among Malaysians over the past 10 years.
It might sound cynical but the reality is that it is sometimes harder for other non-communicable diseases or health conditions to gain the necessary support for diagnosis, treatment and care especially with overstretched health budgets and limited resources. Even diseases have to compete for attention.
Rare diseases, also referred to as orphan diseases, can and often fall to the wayside in any healthcare system. Defined by the World Health Organization as any disease which affects a small percentage of the general population, they can nevertheless pose a significant medical and economic burden for patients, communities and national healthcare systems.
The US considers a condition rare if it affects fewer than 50,000 people. For the European Union, it is less than five in 10,000 of the general population. In Malaysia, though there is currently no official definition, the Malaysian Rare Disorder Society defines it as a disease with low prevalence that affects around one person per 4,000 in the population.
Haemophilia, achondroplasia, lysosomal storage diseases, Gaucher disease, and cystic fibrosis are some of the 8,000 rare diseases currently known.
An estimated 45 million people in South-East Asia, or about 9% of the region’s population, suffer from a form of rare disease. It is not known how many people live with a rare disease in Malaysia as there is no formal registry in existence. According to the University Malaya Medical Centre, more than 16,500 out of 550,000 babies nationwide were born with congenital abnormalities, most of which are rare diseases.
Around 80% of rare diseases are genetic in origin and may manifest within the course of a lifetime. There are some which are life-threatening while others result in chronically debilitating conditions. Children comprise 75% of those affected.
Unfortunately, it is a fact that most healthcare professionals do not recognise the symptoms of rare diseases or know how to treat them. Patients commonly experience delays in diagnosis. Even in the US and Britain, the average time can be between five and seven years for a correct identification. Malaysia is no exception.
Even after that diagnosis, there is a lack of suitable and available treatments for patients, limited information and advisory services, and a small circle of local specialists and experts for referral. It is not unusual for patients and their families to revert to the Internet for advice on what to do.
Treatment options and access to innovative drugs, though limited, are available but it often comes down to how much health funding is available.
Discussions are often centred on whether the national healthcare system can afford to provide such treatment, but for patients and their families, there really is no question. People will do what they need to do to get treated.
Currently, funding for treatment is dependent on charities, public and industry subsidisation, or out-of-pocket payments. Often, people will either get treated for a period of time or get nothing at all. Only a small number of patients have actual access.
Obviously, when it comes to rare diseases, there are many gaps and unmet medical needs. But this can change. Better patient outcomes and access to improved treatment options are dependent on increasing the profile and visibility of rare diseases in the national healthcare agenda.
We can begin by making more affordable diagnostic and screening services available here. Access to genetic testing should and can be further improved. This is an area which the private sector can also take on. Increasing the availability of these services, highlighting the need for proper diagnosis and enhancing public concern are the first steps towards arguing for increased access to treatment.
Malaysia is one of the few countries in this region providing public subsidies for rare diseases. It subsidises treatment using enzyme replacement therapies. Nevertheless, despite more innovative drugs being developed and made available, they are often not registered in the Health Ministry’s Medicines Formulary but provided through special approvals on a case-by-case basis.
What is needed right now is a patient-centric approach which communicates their needs and those of their families, promotes support for medical research, and works towards ensuring provision of much-needed treatment. We must find a way to solve the funding problem.
It will require involvement by the Government, recognition of economic realities, harnessing of political support, increasing the availability of domestic clinical expertise, enhancing industry engagement and strengthening patient advocacy.
It can be done.