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 the lack of diagnosis and awareness.
For these individuals, the reality is often one of prolonged diagnostic journeys, limited treatment options, or none at all. It’s a fight not just 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.
Symptoms of these illnesses can vary greatly, making early detection challenging. Over 70 percent 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.
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,” said 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. Only around five percent 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, and lack of transportation,
“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, AstraZeneca Philippines president.
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, a part of Global Rare Disease Awareness Week.
In the Philippines, the 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.
“Raising awareness is just the first step—true change working to ensure that every Filipino living with a rare disease gets the care and support they deserve,” she added.
