The role of patient organizations in the rare disease ecosystem in India: an interview based study

Abstract

Background Rare diseases (RDs) affect a small percentage of the population but can be severely debilitating and life-threatening. Historically, patient groups (PGs) have been the prime movers in raising awareness about these diseases and advocating for national supportive policies. They have also driven relevant research programs. In India too, PGs have made significant contributions to the national RD ecosystem. Objective To assess the contribution of various Indian RD PGs, we carried out an interview-based study of 19organizations. This study aims to highlight the origins and achievements of these groups and the challenges that they have faced. The study also helps to capture the changes in the RD ecosystem that have taken place in recent years. Result Of the 19 PGs, two are umbrella organizations, two are other organizations of national scope and 15 are disease specific groups. 14 interviewees were affected by an RD either directly or through a family member. Lack of awareness about RDs in the medical community was the biggest challenge, leading to a delay in diagnosis and subsequent management. Only two out of the 15 conditions have a definitive treatment. However, many of the diseases can be managed with replacement therapies administered for the patient’s entire life, or other supportive therapies. Most diagnostics and treatment regimens that are available globally are now available in India but are expensive and usually available only in a few major cities. These problems are compounded by a lack of medical insurance schemes and government policies to support these patients. The biggest achievement of the PGs was the passing of National Policy for Treatment of Rare Diseases in 2017, unfortunately since put in abeyance. If reinstated, and properly implemented, this policy could significantly improve RD management in the country. Conclusion PGs have had a significant role in bringing diagnostics and treatments to India. They have also raised awareness about RDs and related issues such as newborn screening, prenatal diagnostics and genetic counselling. This study highlighted the recommendations of various PGs. The government should address these recommendations and institutionalize the participation of the PGs in formal decision making. Electronic supplementary material The online version of this article (10.1186/s13023-019-1093-6) contains supplementary material, which is available to authorized users.

Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China

“…Another important source of information that can help patients manage their health is patient organizations (POs), which provide for the needs of patients with RDs. Currently, there are nearly 120 active patient groups in China, most of which are condition-speci c groups, either led by patients with the same RD or initiated by physicians or medical specialists (personal communication, Yiou Wang from the Illness Challenge Foundation, 25 May 2019) [23,24]. The support of POs is important for patients with RDs, as more than 80% of our respondents indicated a desire to join.…”

Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China

“…Another important source of information that can help patients manage their health is patient organizations (POs), which provide for the needs of patients with RDs. Currently, there are nearly 120 active patient groups in China, most of which are condition-speci c groups, either led by patients with the same RD or initiated by physicians or medical specialists (personal communication, Yiou Wang from the Illness Challenge Foundation, 25 May 2019) [23,24]. The support of POs is important for patients with RDs, as more than 80% of our respondents indicated a desire to join.…”

Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases

“…A remarkable and unique aspect of rare disease treatment and management is the evolving role of advocacy groups and their collaborative partnerships with scientists studying such diseases, pharmaceutical companies developing drugs, and Government officials and policy makers overseeing medical research and health care [3,6]. Rare disease advocacy groups have played a vital role over the years in the adoption of public policies, relocation of available research funding, and other factors affecting the research for rare diseases [1,7]. In most settings, the rare disease advocacy groups are created by the family members of the affected individuals.…”

“…A rare disease is so called because its frequency in any given population is very low [1]. There are about 7000 rare diseases that have been discovered, and more are being described in medical literature.…”

“…A rare disease in isolation may affect a small population because of which clinicians are not aware of the disease and their symptoms, hence such individuals remain undiagnosed and untreated [1,6,7]. Although individually these disorders are rare, when taken together the people affected with rare diseases constitute a large population of the country.…”