Remembering rare diseases amidst a pandemic

AHEAD of World Rare Disease Day on Feb 28, the Rare Diseases Alliance Foundation Malaysia (RDAFM) congratulates the government on the launch of the National Unity 2021-2030 Blueprint. We reiterate Prime Minister Tan Sri Muhyiddin Yassin’s message, that “Empathy towards others is our asset and our strength”. RDAFM supports this latest initiative as well as the rollout of the Covid-19 vaccination programme to combat the pandemic.

Rare diseases, also known as “orphan diseases”, affects 4% to 6% of populations, with over 7,000 different conditions reported. These diseases can affect anyone regardless of race, gender, age or socioeconomic background.

In 2020, Health Minister Datuk Seri Dr Adham Baba announced that RM16.5mil was spent to treat patients with rare diseases in Health Ministry hospitals. The Malaysian government, through the Health Ministry, organised the Apec (Asia-Pacific Economic Cooperation) Virtual Policy Dialogue on Rare Diseases in Malaysia and Asia with participation from health professionals, NGOs and industry players from regional countries. We are also fortunate with the appointment of Senator Datuk Ras Adiba Radzi to champion the voice of the disabled and patients with rare diseases.

However, there are several urgent priorities that need the government’s attention in 2021. There is a need to continue the work of the National Rare Disease Committee as well as the National Framework for Rare Diseases and to ensure the implementation of the Strategic Framework Medical Programme 2021-2025. There is a need to increase the healthcare budget for testing, rehabilitation and treatment of rare diseases, including new medications and gene therapy for spinal muscular atrophy and many other conditions.

University teaching hospitals must be included as part of the strategic framework and be given appropriate allocations to treat patients and to train genetic counsellors, clinical geneticists and more doctors skilled in diagnosing and treating rare diseases early. There is a need to establish permanent government positions for genetic counsellors.

The Covid-19 pandemic has affected the mental health and concerns of the rare disease community. The British Genetic Alliance reported interruptions in routine care and increased complications, as many people with rare diseases are high-risk patients with comorbidities (covid-19.geneticalliance.org.uk). In addition, parents of patients with rare diseases are worried about social isolation, loss of educational opportunities, reduced family income, effects on siblings and the need for Covid-19 vaccination to be given priority for caregivers.

In summary, there is a need to maintain the momentum of progress made in addressing the needs of patients of rare diseases in Malaysia so that no one is left behind.