The Malaysian Insight

THERE is a severe lack of awareness, funding and resources available to patients suffering from rare diseases despite the fact that around 8% of the population may be living with it, a clinical geneticist said.

Dr Thong Meow Keong, head of the Genetic Medicine unit at the Department of Paediatrics at Universiti Malaya Medical Centre (UMMC) said rare diseases are a public health crisis that is not given enough attention.

This lack of attention, he said, means patients and their families are put at a disadvantage.

“It’s an unseen condition because each individual condition is rare. The mindset is because each is rare, therefore it is not something that is not usually found, but their problems are the same,” Thong told The Malaysian Insight.

“The lack of awareness of each of these conditions, early diagnosis and treatment and the options available in the country to help to reduce the side effects of these conditions means the community losses as a result.”

The World Health Organization (WHO) defines a rare disease as any disease which affects a small percentage of the general population.

The European Rare Disease Organisation (EURORDIS) defines rare diseases as conditions affecting five in 10,000 of the general population, while in Malaysia, it is a disease with a prevalence of one in 4,000 of the general population.

Thong said collectively there are about 7,000 types of rare diseases and the rare disease community makes up 5-8% of the population in any country.

“It can affect anyone, not just children. It can affect adults, any person regardless of their socio-economic status or gender. This is a misconception that rare diseases only affect children or individuals from the lower socio-economic group.”

The lack of awareness of the disease also means that patients are often diagnosed when they are already quite ill.

“Thirty per cent of these patients die before they are five years old, “Thong said.

“Many of them do not make it and the reasons are many, one of them is because it is under-diagnosed.

“We have a term for this, ‘diagnostic odyssey’, where parents have to take a child from hospital to hospital to get the diagnosis. As healthcare providers may not be  aware of their diverse and subtle presentation, people tend to miss or dismiss it.”

No registry

Rare diseases are non-communicable diseases such as high blood pressure or diabetes. However, there is no national patient registry for them at the moment, Thong said.

Without a database, the numbers and severity of rare diseases are often downplayed despite it also being a public health problem, he said.

UMMC has treated around 10,000 patients since the inception of its genetic medicine unit in 1995. On average, the unit sees 1,000 patients a year.

“When there is no rare disease registry, what happens is there is lack of accurate data, and we will base our healthcare resource planning on superficial or inaccurate information, which tends to downplay the importance.

“Part of the reason is the lack of perception that this is a very important issue as they do not have a dramatic presentation. Unlike when you have HIV or Covid-19, everybody is fearful of it.

“Because of that, the perception becomes downplayed, so there is not much investment in obtaining these important data that will help in prevention and control of rare diseases, just like any public health issue.”

Treatment centres and cost

It is important to know that when someone is diagnosed with a rare disease it is not a death sentence. It can be treated just like any other diseases, Thong said.

Treatment can be divided in two – pharmacological and non-pharmacological, he added.

“Non-pharmacological means treatment does not involve using a specific medicine. For example, if you are born with cleft palate, you can have surgery done. Or you have a rare heart condition, you go for corrective cardiac surgery.

“An example of pharmacological therapy is enzyme replacement therapy (ERT). Lysosomal diseases are conditions where the patients lack a certain specific enzyme and it is devastating. With enzyme replacement therapy, many of these patients are now alive.”

UMMC was the first to treat lysosomal diseases with ERT in the 1990s for Gaucher disease. This was followed by ERT for Pompe disease and mucopolysaccharidosis type VI in the 2000s.

“Drug trials, such as gene therapy, have the potential to make a big difference for patients with rare diseases. 

“Gene therapy was successfully used in Southeast Asia for the first time in 2020 for six UMMC patients with spinal muscular atrophy type 1, a rare genetic neuromuscular condition.

“The kids who have this disease in its most severe form die before they reach two years old. 

“With this therapy, they are able to survive and improve in their daily functions. Currently, there are other options for treating spinal muscular atrophy and we hope it will be available soon at the MOH for treatment,” he said.

When it comes to treatment that requires drugs, the costs are often astronomical, Thong said.

“Unfortunately the cost of the drugs for some rare diseases are expensive.

“Because it is so expensive (to develop) and the number of patients is small, the market forces them (pharmaceutical companies) to charge a high price to make up for the lack of numbers.

“The reality is, in nearly all countries in the world, it’s either the government pays for it or insurance.”

However, in Malaysia, insurance policies include a clause where congenital diseases are not covered, this includes most rare diseases.

“In Taiwan, almost all the rare disease treatment is paid by the government and they even have legislation to back it up.

“They have a Rare Disease and Orphan Drug act. The government has to set aside a budget each year to treat rare diseases across the board.

“In Malaysia, we have no legislation such as a rare disease act, there is no law to assure treatment access for all the patients with rare diseases. Currently, the governmental budget for rare disease goes to patients treated at Hospital Kuala Lumpur.”

The government allocates a budget of RM20 million a year to treat rare diseases but other hospitals, including the seven university teaching hospitals under the Higher Education Ministry and military hospitals have no access to these funds, Thong said.

UMMC relies on donations, zakat and compassionate donations to treat patients with rare diseases, but this, Thong said, is not a long-term solution.

The government recently announced that it was looking into creating a treatment fund for rare diseases at Hospital Tunku Azizah.

“It is a good idea, however, we need clarity of the terms of reference, procedures on how donations can be made and how patients can access the funds. – June 17, 2022.