Academician Carmencita D. Padilla renewed her call for the passage of the rare diseases bill during the Science Legislative Forum organized by Department of Science and Technology-National Academy of Science and Technology (DOST-NAST) held recently at the Philippine International Convention Center.

Rare diseases are debilitating or life-threatening disorders that affect only a small segment of the population.  An estimated 6,000 to 10,000 people in the Philippines are afflicted with a rare disease, most of them children.

“Even if we are just talking about one, ten, twenty, thirty, or a hundred versus a hundred million, they still deserve a right to life,” Dr. Padilla said.

Dr. Padilla, who was instrumental for the passage of the New Born Screening Act which institutionalizes newborn screening in healthcare facilities for the early detection of some genetic diseases, expressed her hope that the bill will be passed before the 16th congress ends.

The Rare Diseases Bill seeks to ensure that patients with rare diseases will have access to adequate medical healthcare, information, and products to treat their conditions.  This will be done primarily through the establishment of a comprehensive and sustainable health system for identification, referral, and management of patients with rare diseases—integrated within the current public health system; and the inclusion of rare disease benefit package in PhilHealth.

As well, the bill stipulates giving regulatory and fiscal incentives to support research and development activities on rare diseases and manufacturing of affordable drugs or products.  Likewise, the bill provides for the design and maintenance of a rare disease registry containing data on cases, patients, drugs and products for rare diseases.  Data from the registry will be used in policy-formulation.

The said provisions in the bill are set to address the current challenges being faced by patients afflicted with rare diseases, their families and caregivers, and their healthcare providers.

Foremost of these challenges are the high cost of treatment, the accessibility of an existing treatment, or the lack of existing drugs itself. Dr. Mary Ann R. Abacan of Institute of Human Genetics, National Institute of Health in University of the Philippines Manila noted that most pharmaceutical companies do not engage in research and development of drugs or treatment for rare diseases because it is not lucrative thus the shortage of effective drugs for such.

Another challenge, according to Dr. Abacan, is the missed or delayed diagnosis of a rare disease which often results in irreversible damages to the physical anor mental functions of a patient.  This problem also occurs in developed countries like the United States and United Kingdom, more so in our country where there are only nine geneticists for the entire population.

She stressed that early detection and early treatment for some rare diseases can improve the quality of life of the patients and help them become productive members of society. (Ma. Luisa S. Lumioan, S&T Media Service)

BACKING UP THE BILL | Doctors, health professionals, scientists, government workers and advocates pledge their support to the Rare Diseases Bill which seeks to advance the welfare of people with rare diseases.  (S&T Media Service)