NEW POLICY ON RARE DISEASES BRINGS HOPE TO PATIENTS, CARERS

Nine years ago, Sivasangaran Kumaran and his wife Prema Latha Letchimun were overjoyed to welcome their second child, Swathi Nisha Nair, who was delivered naturally.

Nothing seemed unusual until six months later, when everything changed. 

The parents noticed that Swathi had developed a prolonged bout of pneumonia, prompting doctors to perform an X-ray. 

The results were alarming: her heart was enlarged and an echocardiogram showed that it was functioning at only 25 percent capacity.

pic-2

Soon after, Swathi was diagnosed with Pompe disease, a rare genetic disorder that weakens the heart and muscles. The disease, affecting only one in 40,000 people worldwide, is linked to a deficiency of an enzyme called acid alpha-glucosidase (GAA), which breaks down glycogen, a complex sugar. 

“There are two main forms of Pompe disease – infantile-onset and late-onset. Swathi has the infantile variant, the more severe form that affects the heart and can be fatal within the first year or two of life if untreated,” Sivasangaran, 46, who works for a multinational company, told Bernama recently.

FUNDING 

He was told that the only available treatment for Swathi is enzyme replacement therapy (ERT), one of the world’s most expensive life-saving treatments. He also found out that his daughter’s treatment would cost about RM500,000 per year. 

However, at that time, the annual government allocation for rare disease treatments at Hospital Kuala Lumpur (HKL) – which acts as the national referral centre for genetic, including rare, diseases – had already been exhausted, forcing the family to pay a huge sum out of pocket to begin treatment immediately.

Sivasangaran also approached the Malaysia Lysosomal Disease Association to help fund Swathi’s treatment temporarily and he repaid the NGO in instalments over the following months. The medication was just enough to keep his daughter alive until government funding resumed the following year.

“We were very lucky that the ERT worked for Swathi. Not all children respond to the drug (used in ERT), and some families lose their children within one or two years despite treatment.

“On top of this, she gets physiotherapy, occupational therapy, aqua therapy and speech therapy a few times a week at Seremban to help her reach developmental milestones,” he said.

“We have to get up at 4 am once a week to travel to HKL so Swathi can undergo ERT… my wife had to give up her job as a medical assistant in 2017 to take care of our daughter.” 

Though Swathi is still non-verbal, her heart and liver functions have improved. She is also now able to communicate through gestures and alternative communication tools.

Swathi is now nine years old and is at Level 3 of the Special Education Integration Programme, where students with special needs are placed in special classes within mainstream primary and secondary schools. 

pic-3

According to her father, Swathi can understand letters, numbers, colours and shapes. She can read and write, not perfectly, but clearly.

“Although her mobility is limited, she is very smart… she can walk independently for short distances with specialised shoes, but a wheelchair may eventually be necessary,” he said, adding his elder son Harrish, 17, acts as a supportive “third parent” to Swathi.

In light of World Rare Disease Day on Feb 28, Sivasangaran hopes that Swathi’s story can inform Malaysians about the existence of Pompe disease and rare diseases as a whole.

POMPE DISEASE DIAGNOSIS 

As of 2025, a total of 28 patients with Pompe disease have been referred to HKL. A majority of them were already in the advanced stage of the disease and were too late for life-saving medical intervention. Currently, only seven patients are still surviving.

Commenting on the disorder, HKL clinical genetics consultant and head of the genetics department Dr Ngu Lock Hock said Pompe disease is a rare, inherited neuromuscular disorder caused by a deficiency of the GAA enzyme, which leads to a harmful buildup of glycogen in muscle cells, causing progressive muscle weakness and damage. 

He said this rare disease is unique among neuromuscular disorders because it is both a lysosomal storage disease and a metabolic myopathy, primarily affecting the skeletal, heart and respiratory muscles.

“Pompe disease is difficult to diagnose early because of its non-specific early symptoms, which can easily be mistaken for more common, less severe or infectious conditions,” he said, adding that muscle weakness or breathing difficulties in Pompe disease are frequently misdiagnosed because they overlap with more common neuromuscular or respiratory conditions. 

“Because Pompe disease is rare, physicians often explore more common diseases first, leading to a diagnostic delay that can span over 10 years in late-onset cases,” he told Bernama. 

pic-4

Elaborating on the two forms of Pompe disease, Dr Ngu said infantile-onset Pompe disease (IOPD) is the most severe and usually presents within the first two to four months of life, with the babies appearing ‘floppy’due to poor muscle tone and lack of head control. 

“They often experience profound muscle weakness, feeding difficulties and rapid enlargement of the heart, which can lead to heart failure if untreated,” he said.

He added that respiratory distress and recurrent infections are also common in IOPD, and some infants may have an enlarged liver or tongue.

“In contrast, late-onset Pompe disease (LOPD) can present from late childhood to adulthood, and symptoms are often more gradual and may initially be overlooked. 

“Patients usually develop progressive muscle weakness, especially in the legs, hips and trunk, leading to difficulties climbing stairs, rising from a seated position or walking,” he said.

pic-5

TREATMENT AND CHALLENGES 

Dr Ngu said currently, ERT is the available medical treatment for Pompe disease that supplies, or "replaces", the missing or deficient enzyme in patients. Alglucosidase was the first marketed ERT product for this rare condition. The treatment has now transitioned toward a newer, more effective next-generation ERT product called avalglucosidase alfa, which was approved by Malaysia in May 2024 for long-term use. The drug is given bi-weekly, via intravenous infusions.

“Due to the rarity of the disease, experts and treatment centres are limited to major public hospitals such as HKL and Universiti Malaya Medical Centre (UMMC),” he said.

This year, the government allocated RM42 million to HKL and a few other state hospitals for the treatment of rare diseases, including RM30 million for ERT.

Commenting on the shortage of rare disease specialists in Malaysia, Dr Ngu said it is a critical issue, with only about 15 clinical geneticists and a handful of genetic counsellors serving a population with an estimated 10,000 to over a million people affected by rare diseases. 

“This limited expertise, concentrated mainly in the Klang Valley, causes significant gaps in the healthcare system, leading to long diagnostic delays (meaning patients often face a ‘diagnostic odyssey’, spending years seeking an accurate diagnosis) and inequitable access to treatment,” he said. 

Dr Ngu added that since more than 80 percent of rare diseases, including Pompe, are genetic in origin, clinical geneticists and genetic counsellors play a crucial role in explaining inherited conditions and advising families on reproductive options and family planning.

“Incorporating genomic sequencing into newborn blood screening could help detect Pompe and other rare diseases, as well as hundreds of additional childhood conditions at a much earlier stage, enabling earlier diagnosis and timely treatment,” he said.

UMMC consultant clinical geneticist Prof Dr Thong Meow Keong said expanding newborn screening to include inherited metabolic conditions and other genetic disorders could significantly reduce long-term morbidity and economic burden.

“Early detection of treatable metabolic and genetic disorders improves survival and reduces downstream healthcare costs,” he said.

pic-6

He added that awareness and proper counselling play a critical role in improving uptake of genetic services.

“Once awareness is established and genetic counselling is provided, the uptake usually improves. This is why public education, particularly among high-risk groups, is essential,” said Dr Thong, who is also Malaysian Rare Disorders Society (MRDS) advisor.  

POLICY MATTERS 

Meanwhile, commenting on the National Policy for Rare Diseases (NPRD) launched by the Ministry of Health on Feb 4, Dr Thong praised the initiative and said the government must now invest in specialised training pathways, fellowships and regional rotations to expand expertise in clinical genetics, metabolic medicine, dietetics and genetic counselling.

“Without the right talent pool, policy ambitions cannot be translated into clinical reality,” he said.

The NPRD is a reform initiative aimed at strengthening the country’s healthcare ecosystem in addressing rare diseases in a more structured and sustainable manner. Health Minister Datuk Seri Dr Dzulkefly Ahmad said the policy reflects the government’s commitment to ensuring that rare diseases are no longer regarded as a marginal issue, but are instead elevated as a mainstream agenda.

pic-7

Dr Thong said sustaining progress in Malaysia’s rare disease landscape requires structural reforms across the five key domains outlined in the NPRD.

“To ensure long-term impact, we need legislative and policy consolidation such as a dedicated Rare Disease Act, similar to those implemented in Japan and Taiwan, that would provide stronger rights-based access to treatment, continuity in financing and clearer multi-agency accountability,” he said. 

A comprehensive national funding mechanism is equally critical with a ring-fenced rare disease fund, supported through blended financing models such as government allocations, social insurance and public-private partnerships, he said, adding that this would help ensure ethical, equitable and sustainable access to high-cost therapies.

“In fact, it is important to build a robust data infrastructure as a unified national rare disease registry integrated with genomic sequencing platforms to generate high-quality epidemiological data, which is essential for precision medicine and evidence-based policymaking,” he added.

RAY OF HOPE 

For Sivasangaran and other parents and caregivers of children with rare diseases who had long been fighting for patients’ rights, the NPRD is like a ray of hope, whether in accessing treatment, education, employment or recognition in society.

“Many of us caregivers are forced to bear the extremely high medical costs, and a significant number of families affected by rare diseases fall within the B40 income category.

“However, we are thankful that this policy has finally been introduced to ensure long-term governance, sustainable funding and cross-ministry coordination. 

“We hope that under this new policy, more hospitals and research institutions will be involved in the research and development of rare diseases, so patients can receive treatment closer to home without having to travel far,” he said. 

pic-8

Meanwhile, MRDS president Nadiah Hanim Abdul Latif said from a grassroots perspective, the NPRD must look beyond medical treatment in addressing rare diseases in Malaysia.

“I definitely echo the importance of (genetic and newborn) screening. We have seen how life-changing it can be, especially for families with hereditary rare diseases. It allows families to make informed decisions about whether they wish to have another child

“However, we must also not forget that 30 per cent of rare diseases happen/ manifest in adolescence or adulthood. So, timely and accurate diagnosis across the life course is key,” she said.

She also stressed that prioritising interventions requires focusing resources where impact can be maximised.

“We need to strengthen diagnostic capacity, expand targeted screening, negotiate for affordable medicines, and most importantly, provide social support to prevent catastrophic health spending. 

“The care pathway after diagnosis is equally important — we must invest in how patients are supported once they enter the system,” she said. 

pic-9

She added that ensuring rare disease patients live with dignity should not rest solely with the Ministry of Health, but must also involve other agencies. 

“Inclusive education, for example, falls under the Ministry of Education. Youth with rare diseases who are capable of pursuing higher education must not be denied that opportunity, and we have recently seen reports of persons with disabilities being blocked from educational pathways, which is deeply concerning.

“Workplace discrimination and economic vulnerability should be addressed. Under the principle of equal work for equal pay, individuals with visible rare conditions or those who require regular hospital visits, such as for infusions,  should not be the first to lose their jobs during voluntary or mutual separation schemes. Work must come with dignity,” she said. 

(This article is in conjunction with World Rare Disease Day which falls on Feb 28, and published with the support of the National Press Foundation's 2025 Rare Disease Reporting Fellowship)