They may be called “rare,” but rare diseases affect more lives than you can imagine. Over 400 million people worldwide are living with a rare disease, and even more are impacted by the effects on their loved ones and caregivers. In the Philippines, an estimated 6,500 Filipinos live with rare diseases, although the actual number may be much higher due to lack of diagnosis and awareness.

With more than 10,000 rare diseases identified, the challenges faced by patients and their families are vast, diverse, and deeply urgent. For these individuals, the reality is often one of prolonged diagnostic journeys, limited treatment options, or none at all. Each step they take is complicated by systemic inequities and a lack of awareness—even within the medical community. These struggles are unseen by many but felt intensely by those living through them. It’s a fight not just for care, but for recognition and dignity.

On February 28, The Philippine Society of Orphan Disorders (PSOD), the Philippine Alliance of Patients’ Organizations (PAPO), National Institute of Health (NIH), and AstraZeneca came together to put a spotlight on the profound challenges faced by individuals living with rare diseases. In a roundtable event entitled “More Than You Can Imagine: Collaboration to Transform Rare Disease Outcomes in the Philippines,” they emphasized the urgent need for action and awareness.

What are rare diseases?

The definition of rare diseases, also known as “orphan diseases,” varies from one country to another. According to many international organizations, a condition is defined as “rare” when it affects fewer than 1 in 2,000 people. However, in the Philippines, a rare disease is defined as a condition affecting 1 in 20,000.

Symptoms of these illnesses can vary greatly, making early detection challenging. Over 70% of rare diseases are genetic, and many begin in childhood. Examples include Neurofibromatosis Type 1 (NF1), which causes tumors along nerves throughout the body, and Atypical Hemolytic Uremic Syndrome (aHUS), a life-threatening disorder leading to uncontrolled blood clotting and organ damage.

These diseases are often chronic, progressive, and life-threatening, resulting in significant social, financial, and emotional burdens for patients and their families.

Rare disease impacts more people than you can imagine

For those living with rare diseases, the path is filled with challenges. Typically, it takes years for a patient to receive an accurate diagnosis, with many being misdiagnosed along the way, which prolongs suffering and complicates treatment options.

“People hear ‘rare disease’ and think it’s something distant, but it’s more common than they realize,” says Reivi Dela Cruz, who was diagnosed with NF1 at just four years old. “For years, I faced misconceptions—even being mistaken for having monkeypox. But the real challenge isn’t just awareness; it’s access to the right care, support, and treatment that so many of us still struggle to get.”

Treatment is another hurdle. While ongoing research and clinical trials—often spearheaded by innovative organizations and patient advocacy groups such as the Philippine Society for Orphan Disorders (PSOD)—hold promise, access remains limited. Only around 5% of rare diseases have FDA-approved therapies worldwide, leaving millions of patients without treatment options.

Beyond medical hurdles, Filipino rare disease patients and their families confront daily logistical barriers, such as geographic isolation, care coordination difficulties, lack of transportation, and limited access to advanced technologies. Rare diseases also place a heavy emotional and financial burden on families, with caregivers and loved ones facing overwhelming responsibilities to provide care and support.

Addressing rare diseases requires more than just medicines. Our efforts must include adapting healthcare systems, fostering education, and enhancing cooperation in the whole rare disease community to ensure improved outcomes for those affected, said Lotis Ramin, President of AstraZeneca Philippines. “As we establish our stronger Rare Disease presence in the Philippines, we pledge to work towards our goal of transforming end-to-end rare disease care through innovative solutions for early screening and detection, diagnostics, care, and treatment access navigation.”

Advocates for change

Raising awareness and advocating for rare diseases are key steps in addressing the challenges faced by those who live with them. One example is this year’s “Light Up for Rare” campaign, part of Global Rare Disease Awareness Week. On February 28 at 7 PM, people around the world lit up their homes, landmarks, and buildings in Rare Disease Day colors. With these creative displays shared online, thousands showed support and raised awareness of rare diseases.

In the Philippines, the Philippine Society for Orphan Disorders (PSOD) is one of the organizations advocating for improved health outcomes for rare disease patients. PSOD helps patients by making treatment more accessible, giving emotional support to families, running awareness campaigns, and pushing for the implementation of the Rare Disease Act.

Signed into law in 2016, the Rare Disease Act (RA 10747) officially recognizes rare disease patients as persons with disabilities, which helps them access healthcare, financial aid, and other benefits. However, more must be done to implement the law across the country so that all patients living with rare diseases can benefit.

“Raising awareness is just the first step—true change happens when policies are fully implemented, treatments become accessible, and no patient is left behind,” says Ms. Janet Kochis, Program Officer for Patient Care & Family Support, Philippine Society for Orphan Disorders. “The Rare Disease Act was a milestone, but we must continue working to ensure that every Filipino living with a rare disease gets the care and support they deserve.”

Together, we can do more than what we can imagine.

Rare diseases can’t be addressed by one organization alone—it takes the whole rare disease community of experts, patients, innovators, and policymakers. With the Philippines taking an active role in advancing rare disease policies, including co-sponsoring the global rare disease health resolution, now is the time for collective action. Even small steps—raising awareness, supporting advocacy groups like PSOD, or contributing to patient assistance programs—can create a meaningful impact.

“Addressing rare diseases requires more than just medical breakthroughs—it demands a united effort from policymakers, healthcare professionals, advocates, and the community,” says Dr. Melanie Alcausin, Director of the Institute of Human Genetics (IHG), National Institutes of Health. “With the Philippines actively pushing for stronger rare disease policies, now is the time to turn awareness into action and ensure that no patient is left behind.”

For more information and resources on rare diseases, visit Philippine Society for Orphan Disorders or Rare Diseases International.

This is a press release. Minor revisions have been made by the 8List.ph editorial team.