By Sara Grace C. Fojas
Image by Ali Vicoy
At 13 years old, Van Ryan Malud is sitting on a wheelchair. With brittle bones, he is unable to walk. He was diagnosed with osteogenesis imperfecta when he was only one and a half years old. He has lately been undergoing physical therapy and maintenance medications to strengthen his bones.
“He is easily fractured and he is always in pain. Even sneezing can cause his bones to crack,” says his mother Aida Malud.
Osteogenesis imperfecta is a genetic disorder of bones that break easily with little or no apparent cause. The disorder is one of the rare diseases that one out of 20,000 children is diagnosed with in the Philippines.
Rare diseases or orphan disorders are a “life-threatening or chronically debilitating diseases, which are of such low prevalence that special combined efforts are needed to address them.” They are long-standing, progressive, disabling conditions that require multidisciplinary care. According to the World Health Organization, a disease is considered rare when it affects one person out of 2,000 or fewer. In the Philippines, osteogenesis imperfecta and other rare diseases affect one in 20,000 children.
“Patients afflicted with rare diseases often have their quality of life reduced to taking medications, checkup, and suffering from pain. They are often dependent on other people to attend to their basic needs. They also need lifelong medical care, food supplements, medications, multi-disciplinary therapies to alleviate the symptoms and effects of the disease,” says Department of Health (DOH) Secretary Pauline Ubial.
According to the Philippine Society for Orphan Disorders, Inc., there are about 7,000+ rare diseases known worldwide, and only five percent have US FDA-approved treatments. Eighty percent of these rare diseases are caused by faulty genes that anyone can be carrying without their knowledge, 75 percent affect children, and 30 percent die before the age of five.
The lack of understanding of these disorders makes these children at risk of serious consequences due to delay in diagnosis and, sometimes, incorrect diagnosis. These lives are constantly in danger because, even if their conditions are diagnosed, their families cannot afford the high cost of treatment. For the few who may have the means, optimum care is still elusive due to scarcity of available medications and health care facilities equipped to handle these individuals with special needs.
Due to lack of quality healthcare, the victims of rare diseases and their families experience a high level of pain and suffering. To date, PSOD has a registry of 319 individuals with rare disease representing 63 rare disorders. While there are positive advancements throughout Southeast Asia, barriers remain and health systems differ widely across borders.
From Feb. 22 to 28, the Philippines celebrated its 8th National Rare Disease Week, joining hands with the rest of the world in the Rare Disease Day 2017 campaign under the theme “With Research Possibilities are Limitless.” In line with this, DOH, in partnership with the University of the Philippines National Institute of Health (UP-NIH), launched the first Philippine rare disease symposium under the theme “Working Together for Better Care” that gathered representatives of the public and private stakeholders to create awareness and understanding of the policy on rare diseases. The symposium brought together different healthcare institutions, local government units, government agencies, civic organizations, volunteer organizations, media, and other private and public institutions to create awareness of and support for Filipinos with rare diseases.
“The symposium envisions strengthening the pathway for collaboration among partners and stakeholders for effective implementation of the national rare disease program. The DOH together with UP NIH will create a system for identification, management, registration of persons with rare disease, including an effective referral system in order to provide them with better access to support treatment, information, and even diagnostics. The technical group will identify the needed drugs, products, and services of this group to ultimately incorporate in the medical assistance or PhilHealth benefits provided to the public. The DOH will also develop the expertise of health professionals in the country in terms of diagnosing, treating, and managing patients with rare diseases. Through the help of information technology, we will also link the most remote parts of the country through tele-medicine and e-health (using telecommunication technology to evaluate, diagnose, and treat patients in remote areas),” says Secretary Ubial.
In the Philippines, Republic Act No. 10747 or the Rare Disease Act of the Philippines was signed into law in March 3, 2016. It seeks to improve the access of patients diagnosed with or suspected to have a rare disease to comprehensive medical care and to timely health information to help them cope with their condition.”
“Getting the law passed is just one, the implementation has to include the treatment of the patients,” says Dr. Carmencita Padilla, PSOD founding chairman. “That is why we have to address it and work for this rare disease act, which includes a comprehensive program for the patients. The biggest challenge is getting both the government and private sector to cover all needs of the patients. It spans from birth, screening, treatment, education, to getting a job.”
Dr. Padilla advises mothers to let their children undergo newborn screening as the first step in diagnosing a rare disease. The screening, however, cannot detect all the diseases. Some can be diagnosed by the pediatrician while they are growing up that’s why regular checkup is still really essential.
“We need a huge educational campaign because we have to reach out not only to doctors, not only to specialists, pediatricians, midwives, and nurses, and other experts because there may be a patient out in the community who can be diagnosed. Right now, we have the continuity clinic as the starting point. We have very few specialists and we are very fortunate that the secretary of health is very supportive of tele-medicine. We can treat any patient in any part of the country through these projects,” says Dr. Padilla.
The DOH secretary, on the other hand, plans to establish a screening or child development center in every regional hospital so that people need not go to Manila to get diagnosed and get treated. “What we’re trying to do is to establish these facilities in the 18 regional hospitals that we have. If there are no specialists in the area, we are working with UP Philippine General Hospital and the other specialty hospitals to bring in the specialists at least once a month, depending on the situation and to use tele-medicine and e-health to provide care patients where there are no specialists. We’re trying to develop an infrastructure in the entire country where they don’t have to go to Manila to get diagnosed and care,” says Secretary Ubial.
According to Dr. Padilla, the Philippines is considered one of the leading groups in the field of rare diseases. Other countries in the Southeast Asia are looking at us on how we’ll move forward with our journey with the patients. “Our efforts is not only for our country. Our efforts are also for the other countries in the region. It is just the start of the journey. Learning from the newborn screening story, we feel good about the program. We just have to be patient. We already have an infrastructure, we just need enhancing in training specialists, nutritionists, and dieticians,” ends. Dr. Padilla.