Doctors push for a unified national registry on rare diseases

Health experts said a unified national registry for rare diseases in the Philippines will raise more awareness and support for Filipinos diagnosed with rare conditions.

“The policy makers don’t have [data] that points to what we need. They can decide better, they can craft policies better if they get a better landscape of what rare conditions are,” pediatrician and clinical geneticist Maria Melanie Liberty B. Alcausin told BusinessWorld in an interview on Thursday.

“If there’s no registry, there’s no data. Without data, there’s no policy, so the registry is really important; that’s why it’s at the top of our concern,” she added.

The lack of centralized data on rare diseases in the Philippines resulted in medical societies storing records individually.

“For example, I have a registry of my own patients with osteogenesis imperfecta because we’re the only ones who can manage it,” she said. “But, it shouldn’t be like that. The registry should be unified, and right now, we don’t have that.”

Loudella Calotes-Castillo, a child neurologist and neuromuscular specialist, echoed the same concern, underscoring how this gap could further isolate patients with rare diseases.

“Rare diseases are not always the first disease that doctors or medical professionals think of,” she told BusinessWorld on the sidelines of an event. “As you know, some of these rare diseases might be tagged as infectious, so they are more likely to be stigmatized by the community.”

“One of the gaps is identifying who the patients with rare diseases are and how to cover for them? Because each system… are covering rare diseases,” she added.

On a global scale, Rare Diseases International found that 300 million people live with such conditions, and over 7,000 types of diseases fall under this category.

The group also noted that people with rare diseases often face financial burden brought by hospital bills and treatments.

To further support Filipinos diagnosed with such conditions, the Philippine Health Insurance Corp. (PhilHealth) also aims to expand its Z-benefits to ten rare genetic diseases this year.

The conditions covered by the benefits are Maple Syrup Urine Disease, Methylmalonic Acidemia/Propionic Acidemia, Galactosemia, Phenylketonuria, Gaucher Disease, Pompe Disease, Fabry Disease, MPS II (Hunter Syndrome), MPS IV (Morquio Syndrome), and Osteogenesis Imperfecta.

“They are just polishing those ten, and what processes are involved, because there are more diagnostics and consultations since it’s a genetic condition,” Ms. Alcausin said.

“So there are a lot of processes, it’s very complicated, but at least you’re making some headway,” she added. — Almira Louise S. Martinez