The parents noticed their four-year-old son stumbling, struggling to walk, unusually clumsy. They didn’t know what was wrong. They went to several doctors, but none could name this strange affliction.

It took another five years before they finally had an answer: Duchenne muscular dystrophy (DMD), a rare and severe genetic disorder that weakens muscles, even the heart. Their son died before his teens from heart failure.

It is a story shared by many — babies, children, adults — living with debilitating, life-threatening conditions that remain undiagnosed until it is too late.

On 28 February, Rare Disease Day, landmarks across the Philippines lit up in pink, green, purple, and blue to raise awareness and show solidarity with the rare disease community.

That morning, in a quiet conference room at Makati Diamond Hotel, doctors and medical experts gathered to discuss the grim reality of rare diseases in the country. Organized by AstraZeneca, the talk laid bare the challenges: the lack of resources, the ignorance, the bureaucratic inertia, the overwhelming struggle of living in a developing country ill-equipped to handle rare diseases.

At least they were talking about it.

A DAUNTING ROAD TO DIAGNOSIS

“Even in the best-case scenario, reaching a diagnosis can be incredibly difficult. On a global scale, it takes an average of five years to diagnose a rare disease. Locally, it’s even more challenging, and securing a confirmed diagnosis here is considered fortunate,” said Dr. Loudella Calotes-Castillo, a child neurologist and neuromuscular specialist.

But some, like Dr. Lisa Sanders of The New York Times Magazine, are changing that.

Since 2002, her “Diagnosis” column has used crowdsourcing to help patients with rare and mysterious conditions. She publishes their medical histories, inviting readers—doctors, medical students, even laypeople—to weigh in. Her approach, leveraging collective intelligence, has led to diagnoses that traditional medical channels missed.

This work inspired the Netflix documentary Diagnosis, where Sanders presents cases to a global audience, urging viewers to contribute their knowledge, their experiences, their insights. The result is a widening of diagnostic possibilities, a sense of community, and a glimmer of hope for those lost in medical limbo.

IS THERE HOPE?

Although slow, some change is happening.

Cyril Tolosa, Medical Affairs director of AstraZeneca, pointed out a sobering truth:

“While we call them ‘rare diseases,’ collectively, they are not rare at all. Globally, 400 million people are affected—far from uncommon. As a company, we are committed to bringing stakeholders together, fostering collaboration, and ensuring equitable access to care. Early diagnosis and proper treatment are crucial.”

Dr. Melanie Alcausin, director of the Institute of Human Genetics at the National Institutes of Health (NIH), sees the fight as an uphill battle:

“The country faces a double burden. We are still combating common infectious diseases while dealing with the rising prevalence of non-communicable and genetic conditions. The Rare Disease Act, signed into law in 2016, was a crucial step—it marked the government’s recognition of the need to address rare diseases.”

In late 2024, PhilHealth approved new packages for ten rare diseases, aiming to ease the financial burden without compromising care. The Z-Benefits Package for Rare Diseases covers conditions like inborn errors of metabolism, lysosomal storage diseases, and maple syrup urine disease, offering case rates from P99,000 to P739,000. These benefit packages are expected to reach P443,000 Filipinos by early 2025.