Rare diseases in Malaysia need more attention and support

WE refer to the article that appeared in StarMetro on June 21 about Malaysian beauty queens hosting an event to raise awareness of rare diseases, encourage inclusivity and generate funding for people living with such ailments.

Rare diseases – as defined by Orphanet, the portal for rare diseases and orphan drugs – are diseases that afflict a small number of people in comparison with the general population, and they create special concerns due to their rarity. (Orphan drugs are drugs that are not developed for economic reasons but for a public health need and often need government support to produce.)

Between 6,000 and 7,000 rare diseases have been found, and many of them are severe, chronic and progressive. Most rare diseases have no cure, but effective therapy and medical care may enhance a patient’s quality of life and increase life expectancy. In Malaysia, according to the Health Ministry, the phrase "rare disease" refers to any condition that affects less than one person in 4,000 people and is typically debilitating.

The majority of these diseases are related to genetic problems and are undertreated since many healthcare practitioners lack the resources to provide a precise diagnosis or, in other cases, individuals are unaware of the appropriate treatment channels.

Understanding rare diseases in Malaysia is important given the existing situation's complexity and the fact that neither the general public nor policymakers frequently talk about them. Rare diseases like Marfan syndrome, Prader-Willi syndrome and Leigh syndrome are difficult to diagnose due to their variable and changeable symptoms, as well as the lack of local population data as the conditions are rarely found. Moreover, a lack of advanced laboratory support services often leads to misdiagnosis and delayed identification of these rare diseases.

Some of the biggest problems that rare disease patients and their families face include healthcare practitioners' lack of exposure and insufficient resources. Thus, a lack of exposure and resources result in a shortage of skilled and experienced medical personnel in the field of rare diseases. Many healthcare workers feel they would never encounter rare diseases cases in their professional lives due to a lack of exposure. As a result, people with rare diseases often lack access to proper therapy compared with those with other chronic illnesses.

The Malaysian Rare Disease List now includes more than 474 different forms of rare diseases. Depending on the disease, the treatment for these diseases include enzyme replacement therapy, gene therapy or the use of orphan drugs. Unfortunately, only a small number of rare diseases can be treated with drugs. These drug treatments are frequently life-saving yet are only accessible for a very limited section of uncommon conditions.

This is in partly because the biopharmaceutical industry considers these orphan drugs to be uneconomical to produce due to the significant costs involved in research and development, the challenges associated with using small cohorts for clinical trials, and the relatively small "customer" base to recover the investment – basically, the industry's investment in such drugs is costly and financially hazardous. This is why treatment costs for rare disease patients are extremely high.

A rare disease patient's treatment can easily cost a few hundred thousand ringgit a year just for medications such as enzyme replacement therapy, and the cost will rise as a patient becomes older.

The initiative created by the beauty queens in partnership with FriendsEnArts mentioned at the beginning is thus highly commendable since it could help draw attention to the condition of persons who have rare diseases. To encourage greater contributions, the public should be made aware of the plight of persons living with rare diseases.

Malaysia must take rare disease issues more seriously and make recommendations on how to better combat them, potentially improving healthcare, to achieve equitable access to high-quality, safe, effective and affordable drugs, as outlined in the Malaysian National Medicines Policy.

Even though each of these diseases has a low prevalence, rare diseases combined have a significant influence on the lives of many Malaysians as patients and caregivers bear heavy financial, psychological and social burdens.

Many people with rare diseases frequently feel alone, neglected and vulnerable. More awareness and respect for these people would be attracted if rare diseases are adequately acknowledged as a serious healthcare concern and made an inclusive issue.

Rare Disease Day marked yearly on Feb 28 (or Feb 29 during a leap year) has been introduced to raise awareness among the public and also improve access to treatment and medical representations for individuals with rare diseases and their families.

With everyone working together and constantly filling gaps in rare diseases treatment, hopefully we may be able to overcome the problems and concerns in the future.

NOR RAFIDA MOHD SENI

School of Languages, Literacies & Translations

Universiti Sains Malaysia

PROF ZILFALIL ALWI

Consultant paediatrician and clinical geneticist

Universiti Sains Malaysia

Head, Malaysian Node of the Human Variome Project (MyHVP)