Reivi Dela Cruz was only four years old when he was diagnosed with Neurofibromatosis Type 1 (NF1), a genetic condition that causes tumors (neurofibromas, which are usually non-cancerous) to grow on or under the skin along the nerves. For years he has experienced stigma and discrimination due to misconceptions about his condition.
“But the real challenge isn’t just [lack of] awareness; it’s access to the right care, support, and treatment that so many of us still struggle to get,” said Mr. Dela Cruz, who spoke during a roundtable event entitled “More Than You Can Imagine: Collaboration to Transform Rare Disease Outcomes in the Philippines” on Feb. 28.
In observance of the 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 Philippines gathered patient advocates, the medical community, and other stakeholders. They are bound by their shared purpose of raising awareness and driving action for better care and support for Filipinos living with rare diseases.
NF1 is one of the over 7,000 known rare diseases impacting more than 300 million people globally, with 70% of these conditions starting in childhood. In the Philippines, an estimated 6,500 Filipinos live with rare diseases, although the actual number may be higher due to lack of diagnosis and awareness.
The definition of rare diseases, also known as orphan diseases, varies across countries. According to many international organizations, a condition is defined as “rare” when it affects fewer than 1 in 2,000 people. In the Philippines, the DoH, upon the recommendation of the National Institutes of Health (NIH), categorizes a disease or disorder as rare when it affects one in 20,000 individuals or less.
Symptoms of rare diseases vary greatly, making early detection challenging. These diseases are often chronic, progressive, and life-threatening, resulting in significant social, financial, and emotional burdens for patients and their families. Typically, it takes years to receive an accurate diagnosis, with many patients misdiagnosed, which prolongs suffering and complicates treatment options.
Treatment is another hurdle. While ongoing research and clinical trials — often spearheaded by innovative organizations and patient advocacy groups such as PSOD — hold promise, access remains limited. Only around 5% of rare diseases have FDA-approved therapies worldwide, leaving millions of patients without treatment options.
On top of these challenges, 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 burden on families, with caregivers and loved ones facing overwhelming responsibilities to provide care and support.
Addressing rare diseases requires more than just medicines, and should include adapting healthcare systems, fostering education, and enhancing cooperation in the whole rare disease community to ensure improved outcomes, according to Lotis Ramin, President of AstraZeneca Philippines.
Janet Kochis, Program Officer for Patient Care and Family Support at PSOD, acknowledged the enactment of the Rare Diseases Act of the Philippines in 2016 as a milestone, noting that change happens when policies are fully implemented, treatments become accessible, and no patient is left behind.
Dr. Melanie Alcausin, Director of the Institute of Human Genetics at the NIH, called for a united effort from policymakers, healthcare professionals, advocates, and the community. She stressed that now is the time to actively push for stronger rare disease policies and to turn awareness into action and ensure that no patient is left behind.
Rare diseases pose a unique challenge to patients, their families, societies, healthcare professionals, and healthcare systems. They require “orphan drugs,” or drugs that are uniquely developed to target rare conditions. However, developing orphan drugs to treat rare diseases is a risky and complex undertaking for the innovative pharmaceutical industry since the number of rare diseases patients are small and widely dispersed. Because there are not enough clinical centers or sufficient expertise, biopharmaceutical companies seeking to develop treatments for rare diseases face major logistical and regulatory hurdles.
Despite these challenges, the biopharmaceutical industry has more than 700 medicines in development, targeting many known rare diseases. We consider rare diseases not in isolation but as a significant factor in health policy frameworks. We believe the needs of patients living with rare diseases are a public health priority. Hence, patients must be empowered by access to information, patient-reported outcome registries, and active participation in healthcare decisions. Finally, sustainable patient access to diagnostics, treatment, and care is vital.
Teodoro B. Padilla is the executive director of Pharmaceutical and Healthcare Association of the Philippines which represents the biopharmaceutical medicines and vaccines industry in the country. Its members are in the forefront of research and development efforts for COVID-19 and other diseases that affect Filipinos.
