On World Neurofibromatosis Day, AstraZeneca Philippines met with doctors and patient advocates to discuss Neurofibromatosis Type 1 (NF1). The event, "A New Way Forward: Together Through Every Step," confirmed that a new targeted treatment for NF1-Plexiform Neurofibromas (NF1-PN) is now available in the Philippines.

NF1 is a rare genetic condition. It affects roughly 1 in 3,000 people and causes tumors to grow along the nerves. These can lead to complications with the skin, bones, eyes, and brain. Because "no two patients present the same way," the condition is often misdiagnosed or missed entirely by general practitioners. Patients also face social stigma and discrimination due to visible skin growths.

Living beyond the diagnosis

Reivi Dela Cruz, 52, was diagnosed at age four. He explained that his condition does not define him.

"I have lived with NF1 for most of my life, but I never allowed it to define who I am," he said. “My parents taught me that my condition should never stop me from pursuing my goals, and that mindset helped me build a career, serve my community, and continue moving forward. We are not defined by our condition but infinite possibilities."

Dr. Loudella Castillo emphasized that medical care must include emotional support.

“When we address not only the medical needs of patients but also their emotional and psychosocial needs, families become more empowered to participate actively in care and decision-making,” she said. She also noted that NF1 is not contagious. “Greater understanding and empathy can go a long way in helping patients feel supported and included.”

The long road to diagnosis

Advocates noted that getting a diagnosis is often the most difficult part of the process. Many patients see multiple doctors over several years before finding the cause.

"I remember when I was diagnosed and seeing how difficult it was for my family, especially my mother," said advocate Araceli Lanorio. "Many parents spend years looking for answers, treatment options, and support. Through awareness and education, we hope families realize they are not alone and that people are willing to help them navigate this journey."

Dr. Amparo Itto Agrava, a Pediatric Neurologist, added that awareness helps children succeed.

"Awareness is important because when families, schools, and communities understand the condition better, children are given a greater opportunity to thrive," she said. “Support starts with the family. The way parents accept and support their child influences how that child sees themselves.”

Hope through new treatment

The event highlighted that a Filipino patient recently became the first in the country to use an approved targeted therapy for NF1-PN. Plexiform Neurofibromas (PN) are tumors that grow from nerve tissues. While some can be removed via surgery, most are inoperable and cause pain or physical impairment.

Mrs. Carol Tendero, the mother of a five-year-old patient, shared her reaction to the new treatment.

“When we learned that a treatment option was available for my son, we felt a mix of emotions—joy, hope, and relief,” she said. “We are very grateful for the medical advancements that made this possible, as well as the healthcare professionals who have supported us throughout our journey.”

Pushing for better rare disease care

Experts called for better referral pathways and more investment in rare disease centers. Dr. Cyril Tolosa of AstraZeneca Philippines stated that the goal is to help patients participate fully in their communities.

"At AstraZeneca, we believe that every patient living with rare diseases deserves access to innovation, dignity and a healthcare system that sees them," Tolosa said. "Ultimately, our goal is to help patients live their lives fully and participate in their communities. That requires collaboration among patients, families, healthcare professionals, patient organizations, government, and industry. Awareness should lead to action."