Medicine Cabinet — Reiner W. Gloor
RARE DISEASE DAY is celebrated all throughout the world on the last day of February. The Philippines has been participating in this event since 2010. This year, Rare Disease Day falls on Feb. 29.
According to the Web site rarediseaseday.org, the objective for this event is to “raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.” The campaign also aims to target policy makers, public authorities, industry representatives, researchers, health professionals, and anyone who might have a genuine interest in rare diseases.
This occasion was established in 2008 and has since reached hundreds of thousands of people all over the world and has contributed to the advancement of plans and policies for rare diseases in a number of countries.
Our own Department of Health (DoH) over the past few years has marked the day by celebrating throughout a whole week. By way of Proclamation No. 1989 signed by former president Gloria Macapagal-Arroyo in 2010, the last week of February has been designated as National Rare Disease Week.
Along with the DoH, the Institute of Human Genetics, the National Institute of Health, and the University of the Philippines Manila are assigned to serve as the national focal agencies for purposes of commemorating this event among the health sector and the public.
So what is a rare disease? In Europe, a disease or disorder is classified as “rare” when it affects fewer than one person in 2,000. In the USA, that classification is given when the disease or disorder affects fewer than 200,000 Americans at any given time. In the European Union alone, it is estimated that as many as 30 million people may be affected by one of over 6,000 existing rare diseases.
Eighty percent of rare diseases are rooted in genetic origins, with the remaining possibly resulting from bacterial or viral infections, allergies, environmental causes, or are degenerative and proliferative. Some 50% of rare diseases touch children.
There are unique challenges facing those who suffer from rare diseases. With over 6,000 known rare diseases and with each one having its own broad diversity of disorders and symptoms, this may lead to misdiagnosis and delayed treatment. Furthermore, many of these diseases present as chronic, progressive, degenerative, and frequently life-threatening, disabling the patient and adding to their pain. The lack of effective cures compound the frustration and suffering for the patients and their families.
The challenges are even more pronounced in developing countries such as ours. The lack of quality health care can lead to inequalities and difficulties in access to treatment and care. This may often result in heavy social and financial burdens on patients. This led Senator Pia Cayetano to file Senate Bill No. 2098 or the “Rare Disease Act of 2014.” She believes this is an important health issue, with research and data gathering both necessary in aiding it. Here are some notable provisions of the Bill.
Section 5 provides for the identification of persons with rare diseases and the creation of a Rare Disease Registry. Health care practitioners and institutions must report diagnoses of rare diseases to the Registry of the DoH, along with reports on the status of each patient.
Section 6 provides for referral of patients suspected or already diagnosed with a rare disease to the Regional Newborn Screening Center nearest them in order to ensure they receive adequate medical care.
Section 8 and 9 declares that persons with rare diseases will have the same benefits as persons with disabilities, as provided by Republic Act No. 7277 or the “Magna Carta for Disabled Persons.”
Section 19 details that the DoH must ensure a system is in place to facilitate the qualification of a patient with a rare disease as a beneficiary of medical management services for their disease. Treatment of their respective condition shall be included in the benefit package from the Philippine Health Insurance Corp. or PhilHealth, with revenues generated from the Sin Tax to include medical assistance to patients with rare disease.
Some examples of rare diseases are: Gaucher Disease, Maple Syrup Urine Disease, Pompe Disease, Galactosemia, Phenylketonuria, Methylmalonic Acidemia, Urea Cycle Defects, Hurler Syndrome, Hunter Syndrome, Prader-Willi Syndrome, Edward Syndrome, and Patau Syndrome.
Awareness about these diseases is still very low but seeing Senate Bill No. 2098 pass should enhance public education.
Log on to www.phap.org.ph and www.phapcares.org.ph. E-mail the author at reiner.gloor@gmail.com.
