Hope for patients with rare diseases
MANILA, Philippines - What is a rare disorder? In the US , this is defined as any condition affecting less than 200,000 Americans. In the Philippines , a rare disorder is defined as a condition that affects one in every 20,000 individuals. Since they are so rare, there is the risk of serious consequences due to delay in, and sometimes, even incorrect diagnosis. Such was the case of Dickoy Magdaraog who started off like any other normal, playful, and active child. Then, when he was nine years old, “we noticed that he walked differently,” his mom, Cynthia Magdaraog, relates. “His legs wobbled and he tripped easily. His pediatrician diagnosed him to be flat-footed and had him wear customized shoes. But his condition continued to worsen. Later, he was diagnosed to be afflicted with muscular dystrophy. It was during a trip to the US , when he was 13 years old, when a specialist gave an accurate diagnosis of his condition called Pompe disease.”
Pompe disease is a rare disease that affects about one in 40,000 people. Belonging to a group of genetic diseases collectively called LSD or lysosomal storage disorder, it is a neuromuscular disease caused by a deficiency in an enzyme needed to break down glycogen, a stored form of sugar used for energy. The accumulation of glycogen in certain tissues, particularly muscles, impairs their ability to function normally. “An infant with this disorder might appear like a rag doll due to muscle weakness and poor muscle tone,” Dr. Margarita Jimenez, medical director of Genzyme, Asia Pacific Group, explains. “Most children with this form of Pompe disease do not survive beyond two years old. The late-onset form of Pompe disease, however, may not be manifested until childhood, adolescence or even adulthood. Those afflicted experience progressive muscle weakness, particularly in the legs and trunk, including the muscles that control breathing. They may eventually end up wheelchair-bound.” Gaucher’s disease is the most common of the LSDs. “Children with this disease usually have a big belly due to enlarged liver and spleen,” Dr. Jimenez points out. Another LSD, Fabry disease, is an inherited disorder that affects one in 60,000 males and less frequently in females. Its manifestations include whitening of the cornea; purple spots near the navel; no perspiration; burning pain in hands and feet; muscle, heart, and kidney failure.
Rare disorders, also known as “orphan diseases,” are long-standing, life-threatening, progressive, and disabling, requiring multi-disciplinary care as well as life-long administration of available therapies. Patients born with these rare disorders are “orphaned by society,” says Dr. Carmencita Padilla, director of the Institute of Human Genetics of the National Institute of Health and chairman of the Philippine Society for Orphan Disorders (PSOD). Because of the rare nature of these conditions, very few medical professionals specialize in them so that patients have difficulty getting medical aid. “Thus, patients suffering from rare disorders may be considered social and medical orphans,” Dr. Padilla remarks, “and drugs and products used to treat them have been called orphan drugs.”
Over the past 15 years, a handful of medical professionals from the University of the Philippines, National Institute of Health, and Institute of Human Genetics have dedicated themselves to creating awareness, undertaking clinical trials, and attending to patients with rare disorders.
In 2006, the Philippine Society for Orphan Disorders was organized. Its founding chairman, Dr. Carmencita Padilla, and its president, Cynthia Madaraog, are working tirelessly in order to promote more public awareness and funding for patients with rare disorders.
“Early detection and diagnosis are critical,” says Dr. Jimenez. “Six out of the 50 LSDs are treatable. Seven enzymes for the six diseases are now available. The first to be developed is Cerezyme, which is used as a long-term enzyme replacement therapy in patients with Gaucher disease. Another drug, Myozyme, is used in the treatment of Pompe disease.”
These drugs were developed by Genzyme, an international biotech company based in Boston. “Our objective is to establish partnerships with international experts, and link clinicians with laboratories as well as raise awareness for these rare disorders,” remarks Dr. Patrick Granjard, Genzyme Southeast Asia regional director.
Genzyme has been silently supporting the advocacy of the PSOD and the National Institute of Health by providing the much-needed treatments, particularly to four Filipino patients with rare disorders at a cost which runs to several millions per patient in just one year.
The PSOD advocacy got a big boost recently when Senator Edgardo Angara announced his support for “the right to life” by filing SB 3087, the Rare Disorder Act of the Philippines. The bill is intended to promote greater awareness for rare or orphan disorders which afflict Filipino children across different socio-economic classes, and determine ways of funding support, including fiscal regulation and providing incentives for medical research and aid.
“Health for all,” says Dr. Lulu Bravo, executive director of the National Institute of Health. “Everyone has an equal right to survive and get help.”
“There are pockets of miracles,” says Cynthia Magdaraog. Her son, Dickoy has been receiving Genzyme’s Myozyme treatment since December 2005. The progression of his condition has slowed down and stabilized. Meanwhile, he has earned a degree in Industrial Design and has started his own computer-based business which he manages from home. Last December, he turned 30. To other families who may find themselves in a similar situation, Cynthia’s advice is, “Never give up hope.”
* * *
PSOD may be reached via telefax (632) 636-4675; cell phone number 0918-2713392; e-mail psod_sally@yahoo.com; www.psod.org.ph.
