We are glad to introduce the #RAREvolutionary Durhane Wong-Rieger who has shared her experiences for the November #RARETalk.
1) Hi Durhane, thank you for accepting our #RARETalk invitation. Can you please introduce yourself to the RE(ACT) Community?
I am currently President & CEO of the Canadian Organization for Rare Disorders (CORD) and also serve as Chair of the Council for Rare Diseases International, the global alliance of rare disease patient organizations. As a psychologist by training and a professor for about 30 years, I have been engaged in rare disease advocacy for nearly 30 years.
2) You have a PhD in psychology from McGill University and you were professor at the University of Windsor, how did you become involved with the rare disease world?
At a personal level, I have two children who were born with rare conditions. While my son’s heart defect was immediately diagnosed with relatively clear guidelines for management, my daughter’s symptoms were more generalized and did not lead to a diagnosis. She was diagnosed at age two with a rare blood disorder (thalassaemia) but that condition does not account for her other symptoms, which remained undiagnosed. Recently. given the tremendous advances in genetic and genomic testing, we inquired about the possibility of genomic sequencing. Unfortunately, that route turned out to be infeasible since both my children are adopted, and we could not offer a comparative gene sequence.
I became activated as a patient advocate on behalf of the Hemophilia Society here in Canada at the time when the community was trying to recover from the tainted blood crisis. The community was seeking compensation for those who had become infected with HIV (and also Hepatitis C), access to the newly available recombinant (non blood) clotting factors, an accounting (the truth) as to how (so many) patients became infected, and reform of the blood system to ensure safety and accountability. Several years later, I was asked to write a position paper on behalf of CORD calling for Canada to implement an Orphan Drug Framework. Suddenly, I found myself the lead advocate in this campaign and, at the same time, increasingly drawn into advocacy for access to treatment for different rare disease patient populations. So, I was a “full-time” volunteer lead for CORD for about six years and then gradually transitioning into the role of CEO.
3) How does the Canadian Organization For Rare Disorders (CORD) work? What are its main challenges?
The Canadian Organization For Rare Disorders (CORD) is a registered charity with a volunteer board comprised primarily of patients and carers but also those with other expertise. We are an umbrella organization with about 100 patient group members but also individual members. We serve as a “common voice” for the rare disease community, interfacing with governments and other policymakers, healthcare institutions and providers, payers including public funders, industry, and researchers. CORD develops and advocates for policy that supports rare diseases at national, regional, and local levels. In addition to our engagement to implement orphan drug regulations, CORD has led the work to developing Canada’s Rare Disease Strategy, which also led to the provincial Ontario Rare Disease Strategy and subsequent Framework. We serve as members of various advisory bodies to drug review and reimbursement agencies, including public and private payers. CORD contributes actively to policy that affects rare diseases in many arenas including patient engagement in health technology assessment and access to care. We are leading a multi-stakeholder initiative to establish a “national” Rare Disease Centre that would also support national centres of expertise. Another of our primary mandates is to support our patient group members, providing development and training as well as direct support in their policy and access activities.
4) You are a Member of the Council of Rare Diseases International (RDI) the global alliance of people living with a rare disease. In your opinion, how important it is to ensure rare diseases are recognised as an international public health priority?
The recognition of rare diseases at an international (global) level as a pubic health priority would lend tremendous support to all entities engaged in advancing research, care and treatment, and support for rare diseases. This would facilitate the involvement of and collaboration with global entities, such as the United Nations, WHO, UNICEF and World Bank as well as other international foundations and associations. It would provide entry and rational for including rare disease in the discussions on other global initiatives, including realization of the Sustainable Development Goals of the UN, policies and programs for Universal Health Coverage, especially in emerging countries, and work in disabilities, women’s health and rights, social and economic disparities, and education. We know that national rare disease groups are anticipating the support from global level policies and programs to advance the advocacy in their own countries.
5) You are among the signers of the petition launched by the BLACKSWAN foundation “Help us to increase support for rare disease research - #RAREvolution” that calls upon public authorities to improve research efforts in the field of Rare Diseases. In your opinion, why scientific research on rare and orphan diseases has to face so many obstacles? Which are the steps to unlock this situation?
In some respects, research on rare diseases and orphan drugs has advanced at almost a precipitous pace, with discoveries outpacing the capacity of health systems to effectively implement and translate into benefits for patients. We have seen, since the advent of the USA Orphan Drug Act and more recently the coalescence of international research efforts through consortiums like IRDiRC as well as BLACKSWAN and Orphanet, an ability to work more efficiently and effectively in the rare disease space, across many disciplines. So many of obstacles inherent in doing research with very small patient populations that could be widely dispersed geographically and very difficult to diagnose are being addressed through collaborative research efforts not as prevalent in other disease areas.
6) Can you share with us three things you have learned from your professional experience that could help researchers and patients?
The most important learning is undoubtedly the critical importance of engaging the patient as a partner from the outset and through the research, not just as a “research subject” or “end user” but an expert with unique and valuable knowledge and skills. The second thing is value of collaboration, across disciplines, across diseases, across professions, and across geographical locales that would also subsume ethnic and cultural differences. The third learning is that size matters and there are also advantages to having small numbers with diseases that can be precisely profiled and interventions that can be highly targeted. Rare disease research provides templates and models for precision medicines and targeted research on common conditions.