Shedding light on the unseen: The fight for rare disease awareness
Text size
Share
Patients, doctors, advocates and the private sector wear LED bands as part of the Light Up for Rare campaign.
Daily TribuneShare
Patients, doctors, advocates and the private sector wear LED bands as part of the Light Up for Rare campaign.
Rare Disease Day landmarks across the Philippines.
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.
“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.
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.
Rare disease patients endure different struggles—some wear their conditions visibly, facing stigma and judgment, while others battle invisible illnesses.
At the panel, two individuals covered in bumps, Reivi Dela Cruz and Ara Lanorio, spoke of the stares, the whispers, and the absurd beliefs surrounding their condition: NF1 or Neurofibromatosis Type 1. Yet despite the stigma, Reivi and Ara remain beacons of hope.
Reivi, an IT professional, refuses to let his body dictate his life.
“Even people without NF1 face challenges, but I choose to have a positive outlook. People ask me, ‘Why are you so optimistic despite your condition?’ And I tell them—because that’s the way to live. You can’t focus solely on the disease. You have to seek out people who inspire you and who can support you,” he said.
Ara, Secretary of the Philippine Alliance of Patient Organizations (PAPO) and President of Neurofibromatosis Friends Philippines, holds onto the same conviction.
“Don’t confine yourself to the idea that you are meant to suffer. Go out, explore, and show the world what you can achieve. Prove to others—and to yourself—what you are capable of,” she said.
For movie buffs, NF1 is not an unfamiliar concept. There’s Adam Pearson, the British actor with NF1, who recently starred in A Different Man, a 2024 Sundance hit about an aspiring actor with neurofibromatosis.
But life is not a film. And for rare disease patients, it is not a dramatic plot—it is a daily battle.
Reivi and Ara, in many ways, are fortunate. They can work. They can walk. They can dream. But they also speak for those who cannot—the ones who may not bear visible marks on their bodies yet are unable to live quality lives, the ones waiting in the dark for a name, a cure, a chance.