National Rare Disease Week: Easing the pain of suffering in silence
RARE disease composite image from Inquirer files
MANILA, Philippines—For many Filipinos, receiving a medical diagnosis is supposed to provide clarity. But for those with rare diseases, it often raises more questions than answers.
What comes next? Will treatment be available? How much will it cost? And perhaps the hardest question of all: Will life ever be the same?
Living with a rare disease means more than just managing a complex condition. It’s navigating a world that isn’t built for you — one where doctors may not have answers, medicines are out of reach, and understanding from others is scarce.
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In the Philippines, an estimated 6,500 individuals live with one of the 156 recognized rare diseases, yet many still struggle in silence.
Article continues after this advertisementFrom February 22-28, the country observes National Rare Disease Week (NRDW) 2025, culminating in World Rare Disease Day on February 28.
Article continues after this advertisementThis year’s theme, “More than You Can Imagine”, highlights the unseen struggles and extraordinary resilience of individuals with rare diseases, while the campaign #CareForRarePH calls for better health care, stronger support systems, and real inclusion for those who often feel invisible.
Increasing public awareness
The NRDW in the Philippines was established through Proclamation No. 1989, s. 2010, recognizing the need to increase public awareness and support for individuals with rare diseases.
The week-long observance aims to advocate for equitable health care, improve policies, and highlight the struggles of affected individuals and their families.
World Rare Disease Day was first observed on February 29, 2008, a symbolic date that reflects the very essence of rarity, occurring only in leap years. Established by EURORDIS (Rare Diseases Europe), the initiative aimed to raise awareness about rare diseases and their impact on patients and families.
Over time, it has expanded to be recognized in more than 100 countries. Held annually on the last day of February, whether the 28th or 29th, it unites patients, health care professionals, researchers, and advocates in a global effort to promote equitable access to diagnosis, treatment, and social care for those affected by rare diseases.
Understanding rare diseases
Rare diseases are life-threatening or chronically debilitating conditions that affect only a small fraction of the population. They require specialized medical care and social support. Globally, more than 300 million people live with rare diseases, spanning over 6,000 different conditions.
Most rare diseases are genetic, with 72 percent linked to inherited disorders, and 70 percent appearing in childhood. Many of these conditions have no cure, and treatments — if available — can be expensive and hard to access.
According to Dr. Maria Melanie Liberty B. Alcausin, director of the National Institutes of Health’s (NIH) Institute of Human Genetics, the classification of rare diseases varies by country, depending on their prevalence.
In the United States, a disease is considered rare if it affects one in 1,500 people, while in Europe, the threshold is one in 2,000. In the Philippines, a condition is classified as rare if it affects one in 20,000 individuals. These differences result in variations in the number of officially recognized rare diseases across countries.
With such low prevalence, patients often face misdiagnosis, delayed treatment, and financial hardship — making early awareness crucial.
Current challenges
Despite the passage of the Rare Diseases Act of 2016 (Republic Act No. 10747), which was meant to ensure access to medical care and financial support for Filipinos with rare diseases, many still struggle.
READ: Rare, deadly diseases in PH get attention from barely enforced law
According to the Philippine Society for Orphan Disorders (PSOD), the lack of widespread awareness, limited funding, and scarce medical expertise create significant roadblocks.
“Filipino patients born with rare disorders (diseases) are ‘orphaned’ by society. They suffer from social abandonment because of lack of existing network of support to aid them. Medical help is elusive under the conditions of the country’s health priority,” PSOD explained.
“The nature of their illness is hardly known due to lack of information and only a few medical professionals, particularly in the country, are aware of these disorders and know how to diagnose and address these conditions,” they added.
READ: Healthcare experts: Rare disease law fund remains ‘inadequate’
Alcausin meanwhile outlined several key challenges in providing health care for individuals with rare diseases during a talk at the NIH 25th anniversary conference in 2023. These include:
- Limited scope and capacity of registries and databases
- Insufficient knowledge of rare diseases
- Lack of comprehensive 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
- Lack of evidence-based standards due to the small-scale nature of health research
For many families, the cost of managing a rare disease is overwhelming. When available, treatments can millions of pesos annually, making them out of reach for most Filipinos.
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Moreover, medications used to treat rare diseases are known as “orphan drugs” — a term derived from their neglect by the pharmaceutical industry due to limited demand.
“Persons living with rare diseases are continuously confronted by several challenges, including the need for lifelong medical management, which is often hindered by the high cost of orphan drugs and products,” stated the Integrated Rare Disease Management Program Strategic Plan 2022-2026.
The report further noted that since orphan drugs and medical products are not locally available, persons living with rare diseases (PLWRDs) must rely on imports. However, both donated and purchased medications remain subject to customs duties and high taxes, further increasing financial burdens.
Significant breakthroughs
PSOD highlighted that one of the biggest challenges in rare disease research is the slow progress of clinical trials, largely due to the limited number of known cases. This lack of data hinders the development of effective treatments and potential cures.
Despite these challenges, the organization acknowledged the relentless dedication of medical researchers, health care professionals, and pharmaceutical companies — particularly in developed countries — whose work has led to breakthrough therapies and holds promise for lifelong treatments for rare disorders.
One critical area of advancement is newborn screening, which plays a vital role in early detection and treatment.
The Institute of Human Genetics at the University of the Philippines Manila underscored its importance in identifying and managing rare metabolic conditions before symptoms appear, significantly improving health outcomes.
The Philippines has made notable progress in addressing birth defects through the Newborn Screening (NBS) program, introduced by a group of obstetricians and pediatricians from 24 Metro Manila hospitals. This initiative established baseline data on metabolic conditions, paving the way for the nationwide adoption of newborn screening.
The passage of Republic Act No. 9288, or the Newborn Screening Act of 2004, further strengthened these efforts by ensuring that every newborn in the country has access to screening as part of the public health system. The law also heightened awareness among health care practitioners and parents, reinforcing the importance of early detection.
The Act’s focus on metabolic diseases has driven further research and diagnosis of inherited metabolic disorders, supported by the National Institutes of Health – Institute of Human Genetics (NIH-IHG).
Since the establishment of the Biochemical Genetics Unit in 1999, the team has identified hundreds of cases of inherited metabolic diseases (IMDs) in the country, including:
- Maple syrup urine disease
- Galactosemia
- Hyperphenylalaninemia
- Mucopolysaccharidosis
- X-linked adrenoleukodystrophy
How can you join?
Raising awareness and pushing for better health care policies are crucial in improving the lives of individuals with rare diseases.
According to PSOD, here are some ways people can take part in National Rare Disease Week 2025:
- Share information: Use #CareForRarePH and #RareDiseaseDay on social media to raise awareness and amplify the voices of the rare disease community.
- Be a volunteer: PSOD is calling for partner youth organizations and volunteers to help advocate for rare disease patients.
- Organize or join activities: Schools, offices, and communities can participate by hosting Blue Jeans Day on February 28. Wear blue jeans or create denim ribbons from old jeans to wear throughout the campaign week, symbolizing solidarity with the rare disease community. Other activities include putting up posters and organizing fundraising events.
- Join the “Light Up for Rare” campaign: On the evening of Rare Disease Day (February 28, 7:00 PM), organizations, institutions, and communities are invited to illuminate landmarks and buildings across the country, joining a global chain of lights to raise awareness and show solidarity with individuals living with rare diseases.
- Support policies for rare diseases: Advocate for stronger government action and increased funding for rare disease research, treatment accessibility, and patient support programs.
It is important to remember that NRDW is about more than just raising awareness — it is about ensuring that individuals with rare diseases receive the care and recognition they deserve.
Organizations such as PSOD remind the public that health care should not be a privilege based on how common a condition is. Every person, regardless of their diagnosis, deserves the same chance at life, health, and inclusion.
Graphics by Ed Lustan/Inquirer.net. Sources: Philippine Society for Orphan Disorders, University of the Philippines Manila – The Health Sciences Center
