Group still hopeful for passage of rare diseases bill

Since 2007, the Philippine Society for Orphan Disorders (PSOD) has continuously submitted and refiled a draft to a number of lawmakers to sponsor a proposed law that will be titled “Rare Disease Act of the Philippines,” should it pass both houses of Congress and signed into law.

The draft seeks to create a comprehensive and sustainable health system for people afflicted with a rare disease—otherwise known as orphan disorder. As defined by the Institute of Human Genetics of the National Institutes of Health, University of the Philippines Manila, a rare disease is defined as one that affects one in 20,000 of the general population.

PSOD president Cynthia Magdaraog said: “The draft provides patients, who are mostly children, and their families access to early diagnosis and medical care, which will be integrated into existing public healthcare system. It also intends to integrate a program that would educate the public and healthcare practitioners. Also, the draft provides a system to coordinate a sustainable research and development initiatives and resource generation efforts among relevant government agencies and private sector toward improving the quality of life of patients with rare diseases and their families.”

Several versions

There are now several versions of the bill namely: Senate Bill No. 209, Senate Bill No. 2279, House Bill No. 3634, House Bill No. 3343 and House Bill No. 3896, which were sponsored by Senators Pia Cayetano, Cynthia Villar as well as Representatives Rosemarie Arenas, Gustav Tambunting, Randolph Ting and Alfredo Vargas III.

“We hope to gain more supporters so that hopefully, during this 16th Congress, a bill would finally be passed,” Magdaraog said.

She explained that a law is crucial considering hundreds of individuals, mostly children, are now afflicted with rare genetic diseases that are “orphaned” by the society.

Magdaraong said: “They are called orphan diseases because their victims suffer from social abandonment due to the fact that so few medical professionals and even fewer individuals know about its existence, how are they identified, or how could they be treated or at least managed. As a result, medical help is elusive under the present setup. Unfortunately for the patients, the nature of rare diseases is progressive and even life-threatening. Moreover, they require multidisciplinary care, specific treatment regimen and life-long supportive care.

She added that despite the small number of those afflicted with rare diseases, like any other Filipino citizen, they, too, have an equal right to life and and equal right to access health support. “The bill should at least give them a fighting chance because right now, their medical needs are often met through donations and loans, which are hard to come by. These are not sustainable.”

Sustainable mechanism

Magdaraog said once a law is put in place, there will now be a permanent and sustainable mechanism by which the State shall institutionalize a system that is comprehensive, integrative and sustainable, and will facilitate the collaboration of various stakeholders toward the provision of early and sustainable care of every person afflicted with rare or orphan disorders.

Founded in 2006 by doctors and families of individuals with rare diseases, the nonprofit PSOD assists persons with Pompe disease (inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells causing progressive muscle weakness, especially in the legs and the trunk, including those that control breathing); Fabry disease (inherited disorder that leads to the abnormal buildup of fat and leads to pain, hearing loss, kidney failure, heart attack and stroke); Gaucher disease (occurs when a certain lipid, glucosylceramide, accumulates causing spleen or liver enlargement and even severe brain damage), among others.

While more than 300 people are now registered, PSOD said the number could reach 5,000.