The 1st Philippine Rare Disease Symposium was held at the Century Park Hotel, Metro Manila, hosted by University of the Philippines National Institute for Health (NIH) and the Department of Health (DOH) last February 22, 2017 with the theme 'Working together for Better Care.'
The Philippines celebrates the 8th National Rare Disease Week on 22-28 February 2017 which, together with the global commemoration of the Rare Disease Day on February 28, 2017, highlights the need to intensify the country’s efforts to provide adequate health care and government support to persons afflicted with a Rare Disease otherwise known as orphan disorder.
What is a rare disease?
A “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them”.1 According to the World Health Organization, a disease is considered rare when it affects one person out of 2,000 or less.2
In the Philippines, a disease is considered rare if it affects 1 in every 20,000 individuals or less. Those afflicted with rare disease or orphan disorders suffer from social abandonment due to lack of existing network of support to aid them. The nature of rare disease is hardly known as well due to lack of information; and only few medical professionals in the country are aware of these disorders and how to diagnose and address these conditions. Medical help is also elusive under the conditions of the country’s health priorities.
The country recently enacted the Rare Diseases Act of 2016 (Republic Act 10747) which seeks to “improve the access of persons diagnosed to have a rare disease, or persons highly suspected of having a rare disease, to comprehensive medical care and to timely health information to help them cope with their condition.”
The law mandates the Philippine Health Insurance Corporation (PhilHealth) to provide benefit package; medical assistance as provided in the Sin Tax Reform Act of 2012; fiscal incentives for donations intended for researches on rare diseases, maintenance of the Rare Disease Registry, or for purchase of orphan drugs or orphan products for use solely by persons with rare diseases as certified by FDA. Further, under RA 10747, patients with rare disease will also be considered as persons with disabilities and will be granted benefits and privileges such as priority programs and discounts as mandated by the Magna Carta for Disabled Persons.
Challenges in living with rare disease6
Beyond the diversity of the diseases, rare disease patients and their families are confronted with the same wide range of difficulties arising directly from the rarity of these pathologies:
- Lack of access to correct diagnosis: the period between the emergence of the first symptoms and the appropriate diagnosis involves unacceptable and highly risky delays, as well as wrong diagnosis leading to inaccurate treatments (the pre-diagnosis maze);
- Lack of information: about both the disease itself and about where to obtain help, including lack of referral to qualified professionals;
- Lack of scientific knowledge: this results in difficulties in developing therapeutic tools, in defining the therapeutic strategy and in shortage of therapeutic products, both medicinal products and appropriate medical devices;
- Social consequences: living with a rare disease has implications in all areas of life, whether school, choice of future work, leisure time with friends, or affective life. It may lead to stigmatization, isolation, exclusion from social community, discrimination, and often reduced professional opportunities (when at all relevant);
- Lack of appropriate quality healthcare (combining different spheres of expertise): Patients can live for several years in precarious situations without competent medical attention, including rehabilitation interventions; they remain excluded from the health care system, even after the diagnosis is made;
- High cost of the few existing drugs and care: the additional expense of coping with the disease, in terms of both human and technical aids, combined with the lack of social benefits and reimbursement, cause an overall pauperisation of the family, and dramatically increases the inequity of access to care for rare disease patients.
- Lack of access to treatment, if treatment is at all available.
Mr. Randy Martinez, recounts the challenges of going back and forth to the hospital as her daughter Pauline, seeks treatment for her Gaucher disease. Pauline who is now 11 years old, was noticed to have a small bump on her left torso when she was 6 months old and was later found out after years of several tests to be Gaucher disease.
“Sana magpatuloy pa ang paggamot kay Pauline at marami pang tumulong sa kanya para dire-diretso ang gamutan. Para makapag tapos din siya ng pag-aaral”, Pauline’s father said.
2 de Vrueh, R., Baekelandt, R.F. & de Haan, J.M.H.. (2013). World Health Organization Update on 2004 Background Paper: Priority Medicines for Europe and the World "A Public Health Approach to Innovation".
6 Eurodis/ (2005). “Rare Diseases: understanding this Public Health Priority”.