The World Health Organization (WHO) defines rare diseases as “life-threatening or chronically debilitating diseases”. In the Philippines, a disease is considered rare if it affects not more than one in every 20,000 individuals. The last week of February was declared as the "National Rare Disease Week" in the Philippines on February 8, 2010, through the Presidential Proclamation 1989. The observance aims to instill awareness among the public about rare diseases to give rise to full support for the special needs of persons affected by the disease and educating the health sector and policymaker that caring for patients with rare disorders is a public concern and responsibility.
According to Sanofi, a pharmaceutical firm, there are more than 7,000 different rare diseases, collectively affecting more than 350 million people around the world. About 75% of rare diseases affect children, 30% of patients with rare disorders die before the age of 5 and 80% of rare disorders have identified the genetic origin and thus, require lifetime medical management. In the Philippines, some of the identified rare diseases include lysosomal storage diseases- a group of rare genetic conditions caused by enzyme deficiencies, Maple syrup urine disease, and Rett syndrome which is sometimes misdiagnosed as autism or Down’s syndrome.
Rare Diseases present different challenges compared to those that are common diseases. The rarity of the disease includes problems such as the small number of patients, limited sources of information about the cause of the disease, pathophysiology, natural course of the disease, and the scarcity of expertise of health professionals in the country often leads to late diagnosis and misdiagnosis of the disease.
On March 3, 2016, Republic Act 10747, also known as “An Act Promulgating A Comprehensive Policy In Addressing The Needs Of Persons With Rare Disease” was signed by former President Benigno S. Aquino III, aims to protect and promote the rights to health information and adequate medical care of persons diagnosed with Rare Disease. According to this Act, the Department of Health as the lead agency shall coordinate with the National Institutes of Health (NIH) for technical assistance and other government and non-government agencies and other organizations that are involved in the implementation of this Act. The act aims to achieve its objectives by improving patients access to comprehensive medical care, including drugs and other healthcare products to treat or otherwise, timely health information, developing expertise and specialist of health professionals in the country to diagnose, treat, and manage patients with rare diseases, establishing a comprehensive and sustainable healthcare system and maintaining the Rare Disease Registry which that will be utilized in formulating policies, identifying program interventions and recognizing the crucial roles of research in defining health programs to address the needs of patients with a rare disease. Effective public education is also very important to ensure early diagnosis and treatment of the disease and to prevent stigma and discrimination among the persons diagnosed with Rare Disease.
By: PNC-ZDN Rowence F. Zorilla
References:
