Expand Insurance, Establish Rare Disease Centres, Say Experts

In recent years, the number of rare diseases recorded in Malaysia has been steadily rising, casting a spotlight on the nation’s healthcare system and the many obstacles faced by patients and their families in securing appropriate treatment.

A shortage of specialists, the absence of dedicated referral centres and prohibitively high treatment costs are among the issues most frequently raised. These challenges often leave patients and caregivers feeling isolated and alone as they navigate an already difficult journey.

Against this backdrop, experts say it is timely for the government to factor rare diseases into broader efforts to strengthen the public healthcare system, especially as Malaysia records a prevalence rate of one in every 4,000 individuals affected by such conditions.

Statistics from the Ministry of Health show that about 12,000 Malaysians are currently living with rare diseases, encompassing 492 identified types. Of this number, only about five per cent have access to specific treatments.

 

 

Senior Consultant Neurologist at Hospital Canselor Tuanku Muhriz, Professor Datin Dr Norlinah Mohamed Ibrahim, said roughly 80 per cent of rare diseases are inherited genetic conditions, with delayed diagnosis remaining the most pressing challenge.

The Deputy Dean (Postgraduate) of the Faculty of Medicine, Universiti Kebangsaan Malaysia explained that because these diseases are uncommon, many doctors may be unfamiliar with their symptoms, which often overlap with those of more common illnesses.

“Delays occur when doctors are not familiar with a rare disease and therefore are unsure how to diagnose it, or when symptoms are mistaken for other, more common conditions,” she told Bernama.

She added that many rare diseases require advanced tests such as genetic screening, some of which are not yet available locally. As a result, samples must be sent overseas, a process that significantly increases costs.

“At present, genetic testing can cost between RM3,000 and RM5,000, which is undoubtedly a heavy burden, especially for patients and families from the B40 income group,” she said.

The lack of specialised treatment and local expertise for most rare diseases further compounds the burden on patients.

Citing Spinocerebellar Ataxia (SCA), a rare neurological disease affecting adults in Malaysia, Dr Norlinah said the condition causes progressively worsening balance problems.

“A person diagnosed with SCA will eventually lose the ability to walk and become wheelchair-bound. Currently, there are about 500 to 600 individuals living with SCA, many of whom were previously healthy adults,” she said.

SCA is a genetic disorder, and available treatments are limited to managing symptoms, such as medication to aid balance and reduce muscle stiffness.

 

 

Dr Norlinah strongly advocated the establishment of specialised treatment centres for rare diseases, saying such facilities could address multiple issues at once, including timely access to treatment, thereby improving patients’ chances of recovery or, at the very least, better symptom control and quality of life.

“The existence of dedicated centres would give patients clarity on where to go for treatment and referrals. Many rare disease patients currently do not know where to seek help or advice, which contributes to delayed diagnosis and treatment,” she said.

With specialised centres, for example, in neurology or nephrology, patients would have a clear pathway for care, reducing the need for repeated visits to multiple healthcare facilities.

Such centres would also support general practitioners by providing a clear referral point when further evaluation is needed.

“Doctors who suspect a patient requires specialised assessment can directly refer them to these centres,” she said, adding that this approach would also enable more structured allocation of government funding.

“We can develop our own local expertise, which in the long run helps the country save costs by reducing reliance on foreign specialists and technologies,” she added.

She noted that several hospitals and institutions, including teaching hospitals, could serve as potential hubs for rare disease treatment. Ideally, she said, each region — north, east, south, Sabah and Sarawak — should have at least one specialised centre to reduce travel burdens on patients.

The centres could also facilitate multidisciplinary teams under one roof, offering comprehensive care and accelerating diagnosis, treatment and research; a win-win outcome for both the government and the people.

 

 

Dr Norlinah also stressed the need to expand social protection and insurance schemes to include rare genetic disease patients, who deserve the same level of protection as others.

Currently, there is no insurance scheme specifically tailored for rare genetic diseases. She urged financial institutions and insurance companies to review and enhance existing products so patients can contribute and gain access to covered treatments.

“At the very least, they should be able to make contributions and access certain treatments under available schemes,” she said.

She also suggested government subsidies, the creation of a dedicated rare genetic disease fund and financial support for costly genetic testing.

Contributions from large corporations and government-linked companies (GLCs) to such a fund could help ease the government’s financial burden. In addition, she said zakat institutions could consider extending assistance to rare genetic disease patients, many of whom live with chronic conditions, disabilities and loss of income.

“Zakat aid could include essentials such as wheelchairs and respiratory support equipment,” she said.

 

 

Developmental psychologist Nurhafizah Ramli said rare disease patients often experience emotional crises marked by helplessness, and in severe cases, a sense of hopelessness despite having emotional support around them.

Such perceptions, she explained, affect not only emotional stability but also behaviour.

“Feeling incapable of living like others, patients may withdraw from family and social circles. This pattern of isolation is a warning sign of mental health issues,” said the founder of Mind Scheme Psychological Services.

She emphasised that physical illness can significantly affect mental health, making psychological support just as important as medical treatment. Emotional wellbeing and behaviour, she said, play a major role in recovery, motivation and a patient’s will to continue daily life.

 

 

Nurhafizah fully supported the proposal to establish specialised centres, saying they could have a profound, lifelong impact on patients’ wellbeing and help reshape perceptions of rare diseases, offering renewed hope.

“The long journeys just to see a specialist are physically and emotionally exhausting. The risk of giving up is very high, especially when social support is lacking,” she said.

From feelings of helplessness and hopelessness, patients may gradually withdraw from family and society, with long-term effects on self-confidence and self-worth, often driven by stigma surrounding rare or poorly understood diseases.

She recommended that psychosocial support be integrated into services at specialised centres.

Emotional strain, she added, is not limited to patients alone but also affects families and caregivers.

“Parents and family members are the backbone of a patient’s recovery and treatment process. Caring for a patient while managing other roles can trigger developmental crises. Without proper support, caregivers themselves are at risk of stress and trauma,” she said.