Rare—and special—children
A writer, who is also a mother, once wrote: “To have a child is to have your heart walk outside your body for the rest of your life.”
Parents can tell you that parenthood never really gets old. Even when they’re adults, or when they’re married and have children of their own, your children will always carry around your heart—and its burden of care, worry, hurt, concern, pride and fulfillment—with them. This, even if it seems sometimes that they do so carelessly and heedlessly, or even resent the ties of emotions that bind you, almost from the minute you became aware of their existence.
There is no telling, indeed, how far a parent would go to track the progress and distance their “hearts outside their bodies” are traveling. But sometimes, parenthood carries with it extra burdens, more than the normal or fair share of heartache that comes with the calling, and demands that could break even the staunchest and best-intentioned.
Recently, I met one such parent. Cynthia K.
Magdaraog is the president of the Philippine Society for Orphan Disorders Inc. (PSOD). More importantly, she is the mother of a young man living with Pompey’s Disease, which has been traced to the lack of an enzyme and was the subject of the movie “Extraordinary Measures.” Her son’s disease was finally diagnosed in his early teens and he is now in his 20s. But between then and now lies a story of a plucky boy and his parents who sought a “normal” life for him even in the face of social and institutional ignorance and apathy. For instance, relates Magdaraog, when her son was going to a high school with classrooms on the fourth floor, his friends and classmates would take turns carrying him on their backs up the stairs. In later years, due to his inability to digest food, he was brought to a US hospital where he was put on a high-calorie diet. Today, her son works as a graphic artist, reliant on computers since his range of movement is limited to his hands, arms and neck.
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Cynthia relates her stories with little drama and no tears. I marvel at her composure since if I had faced such a situation, I would probably have long ago succumbed to self-pity. Or perhaps Cynthia did go through that phase, but has since moved on and out to a broader world and an advocacy that lies close to her heart—or is lodged in the heart her son carries around with him.
Pompey’s Disease is one of some 6,000-8,000 rare or orphan diseases, so-called because each of these diseases affects very few individuals (about 1 in every 20,000 around the world, as defined by the Institute of Human Genetics of the National Institutes of Health, UP Manila), and thus receives little by way of attention, funding, advocacy or action.
Some, like Pompey’s Disease, merit attention like a movie devoted to it because of the heroic measures taken by a father whose two children suffered from the disease and, determined to find a cure or a treatment for it, formed a pharmaceutical company to develop the drug.
Still, says Cynthia, many other children often die without even having their disease diagnosed, with some parents ascribing their condition to “bad luck” or “karma.”
Indeed, 75 percent of rare diseases affect children, says the PSOD, and 30 percent of rare-disease patients die before reaching five years. Most of these diseases (some 80 percent) are genetic in origin, while others are the result of infections, allergies and environmental causes, or are “degenerative and proliferative” (they get worse through time and spread to the rest of the body).
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Other sources say a rare or orphan disease is typically “longstanding, life-threatening, progressive, and disabling.”
In the Philippines, as of 2011, the Institute of Human Genetics (IHG) has recorded a total of 244 patients with “rare inborn errors of metabolism” while PSOD has 145 patients on its rolls.
But the problem with a “low resource” setting like the Philippines, where health authorities must cope with very common and deadly diseases like malaria, pneumonia, gastroenteritis, dengue and a whole slew of other ailments, is that there are not enough doctors or health facilities trained to diagnose a rare disease, or recommend a continuum of care. Thus, says Magdaraog, “so many children just die without anyone knowing what killed them.” Even more shocking, as Magdaraog tells it, is that some families even choose to conceal their children’s disease, out of fear perhaps of the stigma attached to having a child with a disabling illness or condition.
Thus, the work of the PSOD is not just to help indigent families find treatment for children with a rare disease, but also to bring rare or orphan diseases “out of the closet,” as it were. They work to bring these diseases to public attention, so much so that some children, says Cynthia with a laugh, have become virtual “superstars” of the disease, appearing in TV shows and even “performing” for audiences. The last, says Cynthia, is not meant so much to make a spectacle of the children, as to prove that despite their debilitating conditions, the children can achieve a level of normalcy. Or as a video of PSOD declares: “Everyone deserves a life.”
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Last Feb. 28, the country observed “World Rare Disease Day,” with the international theme of “Rare Disorders without Borders,” and with the main advocacy point of the need to share studies, developments and treatments by different countries and health institutes. In the Philippines, the PSOD is calling for government support, especially for better access to health services and health coverage, and to help both patients with rare diseases and their families, especially their parents, to lead normal and productive lives.
