Rare diseases may sound uncommon, but together they affect 400 million people globally—including many Filipinos who often spend years searching for the right diagnosis. Defined as diseases occurring in one in 20,000 Filipinos, people living with rare diseases often experience reduced quality of life, with their families facing significant social and economic burden. During Rare Disease Week, healthcare experts, patient advocates, and AstraZeneca gathered to highlight the urgent need for earlier diagnosis, stronger support systems, and better implementation of policies for people living with rare diseases in the Philippines.

Understanding the Challenge 

Rare diseases are often described through the medical diagnostic proverb, “When you hear hoofbeats, think horses, not zebras,” reflecting how physicians are trained to think about common diseases before considering rare ones. However, for some patients, they are the zebra—experiencing years of uncertainty before receiving the correct diagnosis.

AstraZeneca Philippines, together with healthcare experts, government representatives, and patient advocacy groups, convened for an Agham Kapihan entitled “More Than We Can Imagine: Amplifying Voices to Strengthen Equitable Rare Disease Care in the Philippines”. The forum called for earlier diagnosis, stronger care coordination, and improved implementation of existing policies for people living with rare diseases.

“Sinabihan po kami ng doktor nun na [I will] be covered by tumors all over the body, including the face,” Araceli Tenorio, a Neurofibromatosis 1 patient advocate from NF friends, said. “So imagine the fear and the stigma of a 16-year-old young lady—who wanted to be also a physician at that time—na parang, anong nangyayari? Bakit ako yung nagkaroon?”

It wasn’t until 2011 that Araceli saw an interview of an NF patient. There, she realized that there were more people like her and she was not alone in her journey.

“I am in school [to fetch my kids] pero sobra akong mahina. Humiga pa ako sa bleachers nun at pagkahatid ko sa mga anak ko, wala akong energy,” Hellen Driz, head of operations of Hope For Lupus, said. “Ang unang finding sa akin, I have cancer, but after that, saka pa lang ako na-diagnose with lupus.”

Fortunately, Hellen carried on. With the help of her loved ones, as well as having the right doctor, better managed her condition four years after getting the correct diagnosis.

Progress in Rare Disease Care

“At AstraZeneca, we are driven by innovation to change what it means to live with a rare disease,” Lotis Ramin, Country President of AstraZeneca Philippines, said. “We are committed to delivering life-changing treatment while ensuring that the lived experiences of patients guide our every decision.”

These clinical breakthroughs, alongside growing collaboration among patient groups, healthcare experts, and policymakers, have created a landscape that continues to advance hope for every Filipino affected by a rare disease.

“Our mission is to push the boundaries of science and to change what it means to live with a rare disease,” Lotis Ramin, Country President, AstraZeneca Philippines, said. “Built on a legacy of pioneering science, we at AstraZeneca commit to follow the science to deliver life-changing innovation and medicines.”

To address these challenges, healthcare leaders, patient groups, and industry partners highlighted the need for proper treatment and understanding.

“Rare diseases should not be left untreated, no matter what the condition,” Dr. Loudella Castillo, child neurologist and neuromuscular specialist, said. “As doctors, we guide patients and their families in terms of supportive care and treatment, while anticipating complications and monitoring their symptoms.”

“Helping people with chronic illness is not pity—it is actually understanding,” Hellen Driz said. “Speaking from my own experience, aside from the physical burden, I also faced emotional and financial challenges. Good thing I found a support group that was there for me.”

Healthcare experts and patient advocates also hope that the Republic Act No. 10747, or the “Rare Diseases Act,” which aims to support people living with rare disease, could be implemented more fully through a recently filed Senate Bill seeking to expand access to comprehensive medical care, healthcare products, and timely health information to help them cope with their condition.

As Rare Disease Week concludes, stakeholders reiterated their commitment to amplifying patient voices and building a more responsive healthcare framework, ensuring that rare disease patients are no longer unseen within the broader health system.

This is a press release. Minor edits have been made by the 8List.ph editorial team.

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