Living with rare disease: How policy shifts, medical progress bring hope to patients

At 16, Araceli Lanorio was told her body might one day be covered in tumors. The diagnosis, Neurofibromatosis Type 1 (NF1), came with fear, confusion, and a deep sense of isolation. At a time when information was scarce and support groups were nearly nonexistent, she started to withdraw from the world, avoided conversations and braced herself for a future she did not fully understand.

NF1 is a genetic disorder that causes tumors to grow along nerves and can affect the skin, brain, and other parts of the nervous system.

“I didn’t want to go out,” she recalled. “There was fear of being asked what was wrong with me, fear of being judged.”

Today, decades later, Lanorio has transformed that fear into advocacy, speaking out so others living with rare diseases do not feel as alone as she once did. Her story is one of many that illuminate a largely invisible health crisis — one defined not just by medical complexity, but by delayed diagnoses, limited treatment options, and systemic gaps in care.

What counts as rare?

Rare diseases, by definition, affect only a small percentage of the population. According to the World Health Organization, a rare disease typically affects one in 2,000 people or fewer. In the Philippines, the threshold is even stricter — around one in 20,000 — making these conditions statistically rare, but collectively significant.

“There are between 6,000 and 8,000 rare diseases globally, and about 80% of them are genetic,” Dr. Melanie Alcausin, director of the Institute of Human Genetics at the National Institutes of Health told Rappler. “Seventy percent begin in childhood, yet 95% have no approved treatment.”

Despite their rarity, the cumulative number of patients is substantial. Each condition may affect only a handful of individuals, but together, they represent a large and often overlooked population, with families navigating lifelong medical, emotional, and financial challenges.

One of the defining characteristics of rare diseases is their complexity. Dr. Loudella Calotes-Castillo described them as conditions that are not only difficult to diagnose, but also difficult to manage, often involving multiple organ systems and evolving symptoms.

“A patient may present with issues affecting the skin, the brain, and development,” she explained. “But if these are treated separately, the bigger picture can be missed. Sometimes, all those symptoms point to one underlying condition.”

This fragmentation within the healthcare system contributes to one of the most persistent challenges faced by rare disease patients: delayed diagnosis. In many cases, it can take four to eight years before a definitive diagnosis is reached. During that time, patients may see multiple specialists, undergo repeated tests, and receive conflicting or incomplete answers.

Beyond the diagnosis

For Nadia May Merced, that delay had devastating consequences. Two of her children, Sharbel Cecilla Merced and Gabriel Constantine Merced, were diagnosed with Glutaric Acidemia Type 1 (GA1), a rare inherited condition that prevents the body from properly breaking down certain amino acids. The disorder can lead to toxic buildup in the brain, causing irreversible damage if not detected early.

At the time her children were born, GA1 was not included in the Philippines’ newborn screening program. It was only years later — after both children were hospitalized in critical condition — that doctors were able to identify the disease through specialized testing.

“The diagnosis came too late,” she said. “They did not reach developmental milestones. They cannot walk or talk. They depend on us for everything.”

Her daughter passed away at 11 years old.

Even after diagnosis, the challenges did not end. Treatment for rare diseases often requires lifelong care, including specialized diets, medications, therapies, and frequent consultations with multiple specialists. In many cases, even basic medical supplies — such as specialized nutritional formulas — must be imported.

“Access to healthcare, maintenance, hospitalization, and daily financial support is lacking,” Merced said. “Even with some benefits, the cost is overwhelming.”

Improving healthcare access

The Rare Disease Act of 2016 was designed to address many of these challenges. The law recognizes rare disease patients as persons with disabilities (PWDs), grants them access to certain benefits, and mandates the integration of rare disease management into the national healthcare system.

It also calls for the creation of a national rare disease registry, improved newborn screening programs, and expanded access to treatment — including so-called “orphan drugs,” which are developed specifically for rare conditions.

Yet nearly a decade after its passage, implementation remains uneven.

“There has been progress, but there are still gaps,” Alcausin said. “Funding is a major challenge. These treatments are expensive, and because the number of patients is small, pharmaceutical companies are less incentivized to produce them at scale.”

Globally, this is a common issue. Rare disease treatments are often among the most expensive in medicine, reflecting both the complexity of development and the limited market. Even in high-income countries, funding typically involves a combination of government support, private sector participation, and charitable contributions.

In the Philippines, efforts are underway to strengthen the system. Newborn screening has expanded to include more conditions, now covering at least 29 disorders, allowing for earlier detection and intervention. Discussions around broader insurance coverage are ongoing, with government agencies working to develop sustainable funding mechanisms.

In recent years, there have been signs of progress. The Philippine Health Insurance Corporation, or PhilHealth, has begun expanding its coverage for rare diseases through its Z Benefits Package, which now includes at least 10 rare genetic conditions with case rates ranging from roughly P99,000 to P739,000. Additional support is also being developed for conditions identified through newborn screening, with benefit packages gradually extending from diagnosis to rehabilitation. 

Policymakers are exploring multi-layered funding models that combine government financing, insurance coverage, and private or donor support — an approach already used in other countries. Still, officials acknowledge that rare disease care remains costly, and expanding coverage will require sustained budget increases and careful prioritization to ensure long-term viability. 

Awareness drives change

At the same time, medical professionals and advocacy groups are pushing for greater awareness among healthcare providers and the public.

“Awareness is critical,” Calotes-Castillo said. “If doctors recognize early signs, like delayed motor development or unusual skin patterns, we can intervene earlier and improve outcomes.”

Advocacy groups also play a crucial role in connecting patients and families, providing support networks, and pushing for policy changes. Organizations like the Philippine Society for Orphan Disorders bring together patients, caregivers, and medical experts to amplify voices that might otherwise go unheard.

For Lanorio, finding such a community was life-changing. Years after her diagnosis, she connected with other NF1 patients and realized she was not alone.

“That gave me strength,” she said. “We may not have a cure, but we have each other.”

Today, she continues to advocate for greater understanding — not just within the medical community, but in society at large.

“Rare diseases are not contagious,” she said. “If you meet someone like us, just smile. We are more than our condition.”

As the Philippines works to strengthen its healthcare system and implement the full promise of its rare disease law, stories like hers serve as a reminder of what is at stake. Behind every statistic is a person navigating uncertainty, a family carrying emotional and financial burdens, and a community striving to be seen. – Rappler.com