More Than You Can Imagine, More Lives Impacted Than You Think.

MANILA – Though called “rare,” rare diseases affect more lives than many realize. Over 400 million people worldwide live with a rare disease, and countless others feel the impact on their loved ones and caregivers. In the Philippines, an estimated 6,500 Filipinos live with rare diseases. However, the actual number likely exceeds this estimate due to a lack of diagnosis and awareness.

With over 10,000 rare diseases identified, patients and their families face vast, diverse, and deeply urgent challenges. For these individuals, the reality often involves prolonged diagnostic journeys, limited treatment options, or none at all. Each step they take becomes more difficult due to systemic inequities and a lack of awareness—even within the medical community. Many people remain unaware of these struggles, but those living with them feel their impact intensely. It’s not just a fight for care, but for recognition and dignity.

On February 28, Rare Disease Day, the Department of Health (DOH), 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 rare diseases can vary greatly, making early detection a significant challenge. Over 70% of these diseases are genetic, and many manifest in childhood. These diseases are often chronic, progressive, and life-threatening, resulting in significant social, financial, and emotional burdens for patients and their families. For example, children with Neurofibromatosis Type 1 (NF1) may develop tumors along their nerves, affecting their entire body. Similarly, Atypical Hemolytic Uremic Syndrome (aHUS) is a life-threatening disorder that causes uncontrolled blood clotting and organ damage. Diagnosing these conditions can be challenging, but patients and their families deeply feel their impact.

Rare disease impacts more people than you can imagine

For those living with rare diseases, the journey is full of challenges. Patients often wait years to receive an accurate diagnosis. Many face misdiagnoses along the way, which prolongs their 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 led by innovative organizations and patient advocacy groups like the Philippine Society for Orphan Disorders (PSOD)—offer hope, access remains limited. Only about 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 face daily logistical barriers. These include geographic isolation, care coordination difficulties, lack of transportation, and limited access to advanced technologies. Rare diseases also impose a heavy emotional and financial burden on families. Caregivers and loved ones often bear overwhelming responsibilities to provide care and support.

“It’s not just about addressing the knowledge gap; the knowledge gap is just a tiny part of it (regarding awareness about rare diseases). Of course, that’s the promise that should contribute to teaching families about rare diseases, but as you can see, it requires more than just specialists,” said Dr. Loudella Calotes-Castillo.

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 crucial steps in addressing the challenges faced by those living 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 worldwide lit up their homes, landmarks, and buildings in Rare Disease Day colors. These creative displays, shared online, helped thousands show support and raise awareness for rare diseases.

Experts, doctors, AstraZeneca, and especially those affected by rare diseases are urging the public and media to raise awareness. They encourage everyone to conduct research, not just for patients, but for their own health. Additionally, they call on the government to strengthen healthcare systems and better support those with rare diseases. As patients revealed, they endure harsh conditions and face the cruel judgment society often casts upon them.

In the Philippines, the Philippine Society for Orphan Disorders (PSOD) advocates for improved health outcomes for rare disease patients. PSOD assists patients by making treatment more accessible, offering 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) recognizes rare disease patients as persons with disabilities. This recognition helps patients access healthcare, financial aid, and other benefits. Authorities must take further action to implement the law across the country. Doing so will ensure that all patients with rare diseases benefit.

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“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.

One organization alone can’t address rare diseases—it takes the entire rare disease community, including 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.