Collaborative Effort Raises Rare Disease Awareness
They may be called “rare,” but rare diseases affect more people than you might think. Over 400 million people worldwide live with a rare disease, and countless more are impacted as loved ones and caregivers. In the Philippines alone, an estimated 6,500 Filipinos are affected by rare diseases, though the actual number is likely much higher due to underdiagnosis and lack of awareness.
With over 10,000 identified rare diseases, the challenges faced by patients and their families are profound. Many endure prolonged diagnostic journeys, limited or non-existent treatment options, and systemic barriers—including a lack of awareness, even among medical professionals. For those living with these conditions, the fight extends beyond access to care; it is also a struggle for recognition and dignity.
A Call for Awareness and Action
On February 28, Rare Disease Day, key organizations—including the Department of Health (DOH), the Philippine Society of Orphan Disorders (PSOD), the Philippine Alliance of Patients’ Organizations (PAPO), the National Institute of Health (NIH), and AstraZeneca—came together to spotlight the urgent needs of individuals with rare diseases. During a roundtable event titled “More Than You Can Imagine: Collaboration to Transform Rare Disease Outcomes in the Philippines,” experts, advocates, and stakeholders emphasized the importance of increased awareness, early diagnosis, and accessible treatment.
Understanding Rare Diseases
Also known as “orphan diseases,” rare diseases are defined differently worldwide. Many international organizations classify a disease as rare if it affects fewer than 1 in 2,000 people, whereas in the Philippines, the threshold is 1 in 20,000.
Symptoms vary widely, making early detection difficult. Over 70% of rare diseases are genetic, and many manifest in childhood. Conditions such as Neurofibromatosis Type 1 (NF1), which causes tumors to grow along nerves, and Atypical Hemolytic Uremic Syndrome (aHUS), a disorder leading to uncontrolled blood clotting and organ damage, illustrate the severe and life-threatening nature of many rare diseases.
For affected individuals and their families, these illnesses bring not only medical challenges but also significant emotional, financial, and logistical burdens. From misdiagnoses to geographic barriers and limited access to specialized care, their journey is fraught with obstacles.
The Reality of Living with a Rare Disease
Receiving an accurate diagnosis for a rare disease often takes years, with many patients misdiagnosed along the way. This delay extends 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, 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.”
Even when treatments exist, access remains a major hurdle. Only around 5% of rare diseases have FDA-approved therapies worldwide, leaving millions without viable treatment options. Patient advocacy groups like PSOD are crucial in bridging this gap, supporting research, and improving access to care.
Beyond medical hurdles, Filipino rare disease patients face logistical difficulties, including transportation issues, lack of healthcare coordination, and limited access to technology. These conditions place immense financial and emotional strain on families, with caregivers shouldering overwhelming responsibilities.
Beyond Medicine: A Holistic Approach
Addressing rare diseases requires more than just medical treatments—it demands systemic change.
“Our efforts must include adapting healthcare systems, fostering education, and enhancing collaboration within the rare disease community to improve outcomes for those affected,” says Lotis Ramin, President of AstraZeneca Philippines. “As we strengthen our rare disease presence in the Philippines, we are committed to transforming care through innovative solutions in early screening, detection, diagnostics, and access to treatment.”
Advocacy and Awareness: The Path Forward
Raising awareness is a critical step in tackling rare diseases. Initiatives like the “Light Up for Rare” campaign, part of Global Rare Disease Awareness Week, aim to do just that. On February 28, landmarks and buildings worldwide were illuminated in Rare Disease Day colors, signaling solidarity and spreading awareness.
In the Philippines, PSOD plays a pivotal role in advocating for better healthcare outcomes for rare disease patients. Their work includes making treatments more accessible, supporting families emotionally, launching awareness campaigns, and pushing for the full implementation of the Rare Disease Act.
Enacted in 2016, the Rare Disease Act (RA 10747) formally recognizes rare disease patients as persons with disabilities (PWDs), granting them access to healthcare, financial aid, and other essential services. However, much work remains to ensure its full enforcement across the country.
“Raising awareness is just the first step—real change happens when policies are fully implemented, treatments become accessible, and no patient is left behind,” says Janet Kochis, Program Officer for Patient Care & Family Support at PSOD. “The Rare Disease Act was a milestone, but we must continue working to ensure every Filipino living with a rare disease gets the care and support they deserve.”
Strength in Unity: A Collective Responsibility
The fight against rare diseases cannot be won by a single organization; it requires the collective effort of the entire rare disease community—experts, patients, advocates, and policymakers.
“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.”
As the Philippines strengthens its role in advancing rare disease policies—including co-sponsoring the global rare disease health resolution—there is hope that change is on the horizon. Every small action, from raising awareness to supporting organizations like PSOD, can help make a meaningful impact.
Together, we can do more than we imagine.
For more information and resources on rare diseases, visit the Philippine Society for Orphan Disorders or Rare Diseases International.
