THE PHILIPPINE SOCIETY OF ORPHAN DISORDERS
BY PERRY GIL S. MALLARI REPORTER

Being afflicted with a sickness is bad enough. But not knowing what kind of malady afflicts you is even worse. The hard reality is there exist rare diseases. So rare are some of these that physicians have very little knowledge about their nature. It is the mission of the Philippine Society for Orphan Disorders Inc. (PSOD) to promote more awareness about these medical disorders to aid scientific research and to provide support to its victims.

Orphan diseases

Rare disorders (also called “orphan diseases”) afflict babies in all socioeconomic levels. Besides the little information available about their nature, what makes dealing with rare disorders even harder is that they are long-standing, progressive, disabling and life threatening.

The following are among the better-known orphan diseases: maple syrup urine disease, a potentially lethal disease characterized by sweet-smelling urine, with an odor similar to that of maple syrup in affected infant; Gaucher disease is a genetic disorder wherein lipids accumulates in cells and certain organs; and Prader Willi Syndrome, a very rare genetic disorder that afflicts approximately 1 in 10,000 to 1 in 15,000 newborns.

Because of its complex nature, dealing with rare disorders requires costly multidisciplinary care. Though available, treatments for these diseases are expensive and beyond the reach of common people.

A tough fight

Cynthia Magdaraog, the PSOD’s current president explains that her commitment to the advocacy was rooted in the fact that she herself is a parent of a patient with rare disorder. Her son Juan Benedicto, whom her family called “Dickoy’ is suffering from Pompe disease, a rare degenerative disorder characterized by the progressive deterioration of the muscles. “It could lead to death because the heart is also a muscle,” Magdaraog told The Manila Times.

Pompe disease patients do not expect to live very long but then the Magdaraogs saw a glimmer of hope. The United States Food and Drug Administration approved a form of enzyme therapy that could halt or minimize the progression of the disease.

Juan Benedicto today can only move his hands and is hooked to a respiratory ventilator 24 hours. But despite his present physical condition, the man is ripe with achievements. “Though battling with Pompe disease, my son is a productive individual,” Magdaraog narrates, adding, “He got an industrial psychology degree from De La Salle University and used to earn good money from servicing clients abroad.”

He is a successful entrepreneur who sells Apple computer products online and designs websites for clients local and foreign. The PSOD website, www.psod.org.ph, is a fine example of his work. In person, the man is disarmingly humble and personable. His works, both as a businessman, an advocate and a survivor speak well on his behalf.

The proud mother attested that her son is a patient-advocate. “He was invited several times to speak in behalf of the victims of rare disorders,” she narrates. Magdaraog reveals that one time, Juan Benedicto even helped a baby patient of Pompe disease to get access to treatment. “He even made sure that the baby be given treatment ahead of him,” Magdaraog says.

Awareness and assistance

Conceived in June 2006, the PSOD aims to increase awareness about rare disorders in the Philippines. Its founding chairman is geneticist Dr. Carmencita Padilla, also the director of the Institute of Human Genetics, National Institute of Health, University of the Philippines Manila.

The misery of Filipino victims of orphan diseases is compounded by the dearth of information and medical professionals in the country that are knowledgeable on these maladies. Even abroad, the progress of research on orphan diseases is very slow for the reason that there are only limited numbers of cases to study.

The PSOD is currently working hard to come up with a nationwide registry of pertinent material and statistical information, data on drug trials and medication about orphan disorders. The PSOD is thankful that for the past 15 years, medical professionals from the University of the Philippines, the National Institute of Health and the Institute of Human Genetics have contributed generously to its cause.
Assistance from these doctors range from scientific research as well as sourcing of funds and medications for needy patients.

The expenses for orphan disorders are extremely prohibitive. “The cost of my son’s treatment, if we are going to pay for it, is P18 million a year,” Magdaraog reveals. She said that they were fortunate because some biological research companies were compassionate enough to give them free access to it.

Campaign for legislation

Victims of rare disorders have found champions in the persons of Sen. Edgardo Angara who filed early this year Senate Bill 3087, or the Rare Disorder Act of the Philippines and Congressman Arthur Pingoy Jr., chairman of the Health committee in the House of Representatives who was pushing for the approval of a similar legislation. The proposed bills aim to promote more awareness for rare or orphan disorders and to find ways of advancing the campaign against these maladies, which include fiscal regulation as well as providing incentives for medical research and aid.

The PSOD launches a campaign to gather 500,000 online signatures to support the two legislators’ move. Those who are willing to support the cause can sign up at www.thepetitionsite.com/3/please-endorse-sb-3087-the-rare-diseases-act-of-phils-philippines. The PSOD aims to reach the target number of signatures by February 2010.

The Department of Health through Dr. Lulu Bravo, the head of its National Institutes of Health, has already expressed support to these legislative initiatives.

Empowerment and self-sufficiency

In February this year, the PSOD launched its Project Rare program. Included in its endeavors is the initiative to increase the registry of patients with orphan diseases and refer them to the Institute of
Human Genetics, or the NIH. This action has a double purpose, first, more cases studied by experts means increased research data and second the patients will have an accurate diagnosis and access to available treatment. Another commendable component of the project is its action to build a support network for patients of orphan diseases. Individuals and organizations belonging to this network can pool their resources to contribute to the betterment of life of people with rare disorders.

Another goal of the program is the establishment of an endowment fund that would be utilized to sustain the life-long medications and therapies of patient members.

Magdaraog points out that the threat of orphan diseases is a clear social issue because the affliction profoundly affects the normal functioning of a family. “The mother of a patient of a rare disorder has to give up a lot of things in order to take care of her sick child,” she points out.

She is pinning her hope on the passing of the law on orphan diseases believing that it is the key to involve the government in solving the problem. “We tried on knocking on doors before but the usual comment was “You’re so few,” Magdaraog laments, pertaining to the indifference of some sectors stemming from the fact that the victims of rare diseases are just few.

Magdaraog is calling on Filipinos to sign on the signature campaign and rally behind their cause. With sublime conviction, she pointed out that the number of people afflicted with orphan diseases is really irrelevant. As a parting shot she says, “The real issue here is not the numbers but the right of an individual to proper healthcare and treatment.”

The PSOD is located at 24-D Goldland Plaza Condominium, Eisenhower Street, Greenhills, San Juan Metro, Manila. Telefax ([632] 725-6519). For details visit www.psod.org.ph or e-mail This e-mail address is being protected from spambots. You need JavaScript enabled to view it .