Did you know that Filipinos with a rare disease could be as many as 5,000 here and would wait as long as 10 years to find out what is wrong with them? Even more appalling is the fact that more than a third of them will be given an incorrect diagnosis at first?
These are some of the challenges that the Philippine Society for Orphan Disorders (PSOD) has been trying to address for the past nine years. “It’s a global challenge. And here in the Philippines, we hope to stimulate the interest of health professionals and researchers of the incidence of rare diseases, and to trigger further cooperation toward addressing common challenges faced by those who suffer from them,” said Cynthia Magdaraog, president of PSOD.
In the Philippines, a disease is considered rare when it affects one patient in every 20,000 of the population. Close to 300 individuals (representing 48 types of rare disorders) are registered with the PSOD although the organization said there could be as many as 5,000 here in the country.
Because the disease is rare, Magdaraog said there is lack of awareness among healthcare professionals, including the doctors. In the case of afflicted children, it is the parents who are the experts, informing the doctor. “We have parents in our group that approached so many doctors and waited several years before the right diagnosis was finally made and appropriate treatment given.”
Making headway
“We are starting to make headway considering that since 2010, the Philippines has dedicated the last week of February as National Rare Disease Week to promote awareness for rare diseases and the hundreds of Filipinos, mostly children, affected by them,” she said.
Currently, the organization is looking forward to the immediate passage of the Rare Diseases Act of 2014 (Senate Bill No. 2098) that will provide an appropriate, responsible and sustainable drug funding for rare diseases as well as create a Rare Disease Registry, which will contain data on patients and orphan drugs needed by afflicted patients.
Magdaraog said: “The passage of the law can mean different things to different individual with rare disease. Some of the things that may be enjoyed from this law are access to expert medical consultation, physical therapy, medicines, products and devices, diagnostics, social services and even respite for family members. Some individuals living with a rare disease are independent while others require intensive physical assistance and equipment. For most children and adults living with a rare disease, primary care is solely shouldered by the family—rarely do they receive help from kind individuals and groups.”
Feb. 28
According to her, the weeklong observance will culminate on Feb. 28, which will be the 8th World Rare Disease Day, with the theme “Living with a rare disease: day-by-day, hand-in-hand.”
Over 80 countries are set to join this worldwide observance that calls for a global exchange of ideas to deepen the understanding of rare diseases and help address a significant unmet medical need.
“Just like the rest of world, our focus on rare diseases here in the Philippines flows from our desire to help our members and other patients out there that remained underserved by today’s medicines,” Magdaraog said. “In addition, our clamor for more research into rare diseases would teach drug companies and researchers fundamental mechanisms of human biology and disease, which in a lot of instances becomes applicable to more prevalent disorders,” she added.
Founded in 2006 by doctors and families of individuals with rare diseases, the nonprofit organization PSOD assists persons with rare diseases such as 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).