More challenges arise in caring for people with rare diseases in PH



March 7, 2023 — The Universal Health Care (UHC) law states that all Filipinos, including people dealing with rare diseases, are guaranteed equitable access to quality and affordable healthcare, goods, and services. However, the implementation of this law would face additional challenges since rare diseases often need specialized, expensive, and lifelong diagnostics and services.


"While we strive for equity, the reality is that we are living in a resource-restricted setting and allocating more resources to a small group in the population is tempered by the needs of the majority," said Dr. Maria Melanie Liberty B. Alcausin, director of the National Institutes of Health’s (NIH) Institute of Human Genetics, in her talk during the NIH 25th anniversary conference on Feb.  27, 2023.


She stated that different countries classify diseases as rare based on their prevalence. This ranges from one in 2000 in Europe to one in 20,000 in the Philippines, and this difference leads to variations in the number of recognized rare conditions. There are 156 conditions that are considered rare in the Philippines, with an estimate of 6,500 affected individuals nationwide.


She identified the following challenges in providing health services to people with rare diseases: limited scope and capacity of registries and databases; insufficient knowledge of rare diseases; scarce longitudinal data collection; diverse outcomes of treatment and care; difficult and often delayed diagnoses; fragmented and slow development of treatments; scarce and expensive specialized medical care; and not evidence-based standards of care and treatment because of the small-scale nature of health research.



Dr. Alcausin cited the 2022–2023 strategic map for the implementation of the Rare Disease Law crafted with the Department of Health and other government agencies. Aside from the list of rare diseases, the strategic map identified the government agencies' specific roles in its implementation. For instance, the Food and Nutrition Research Institute, in partnership with the IHG, received a grant to produce medical foods with low- or no-protein flour needed by individuals with errors in metabolism.


She enumerated crucial steps to ensure that people living with rare diseases will not be left behind such as establishing an organized national registry for better allocation of funds, integrating comprehensive care for people living with rare diseases, providing evidence for policy and program planning for research and development, increasing availability of and access to orphan drugs and products, investing in the training of medical professionals to provide care to tertiary hospitals and in public awareness. 


Dr. Alcausin stated that research will provide the evidence as basis for policies and programs to address the needs of people living with rare diseases.

Charmaine A. Lingdas

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