A look back on "Rare Diseases: A Global Priority for Equity" from the International Rare Disease Day 2022
On February 28, 2022, a global conference was held at the Dubai World Expo on the implications for rare diseases of major intergovernmental commitments and their trans-national and regional implementation following the recent adoption (16/01/21) of the first UN resolution on rare diseases entitled “Addressing the challenges of people living with rare diseases and their families". The event, now available on video, was held on Rare Disease Day 2022, in a doubly symbolic place, the Swedish Pavilion at the World Expo. Beyond this "universal" setting, which draws global attention to rare diseases (not to mention the intervention, during the opening session, of the queens of Spain and Sweden), the pavilion is dedicated to "co-creation for innovation", and located in the district dedicated to sustainable development. The conference focused on policy innovation, equity, inclusion and social justice. Indeed, rare diseases, which lead to increased impoverishment and isolation, pose specific challenges in terms of access to education, health care, employment and leisure. Building more inclusive and sustainable societies, in line with the UN Agenda 2030, and the Sustainable Development Goals, requires exploring ways to increase international collaboration and synergies, to make rare diseases a policy priority at all levels, with a "holistic" approach, as many speakers have mentioned, all the day long.
The event was organized by the NGO Committee for Rare Diseases, in collaboration with its two founding organizations (Agrenska and EURORDIS; respectively "Swedish national competence centre for rare diseases/diagnostics, and other disabilities", and "non-governmental alliance of patient organizations and individuals active in the field of rare diseases"), as well as with RDI (Rare Diseases International).
The conference was divided into five sessions, with interventions alternating between theoretical approaches and more concrete examples of applications. During the first session, Yann Le Cam from EURORDIS described the three official texts mentioned above as a "new political cycle", while stressing the need to base them on quantifiable goals, to be achieved through the development of an innovations ecosystem bringing together health and social sectors. The next speaker, Rio Hada (UN), spoke of the need, for the theoretical reflections developed at international level, not only to follow the rules of "peer review", but also to be built in synergy with the national level. Then, Maryam Matar, from the UAE Genetic Diseases Association, using the example of the first UAE legislation on neonatal genetics, focused on its thematic expansion (from common diseases, to rare diseases), and geopolitically, with the GCC (Gulf Cooperation Council), an economic alliance of six Arab countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia and the United Arab Emirates). Finally, Flaminia Macchia (RDI), came back to three of the virtues of the UN resolution on rare diseases, respectively linked to its three temporalities: elaboration, resolution, and integration (with theoretical as well as practical issues).
The following session gave a tangible dimension to the subject, since the UN resolution was embodied by patient representatives, who came to explain what it represents for them. This was followed by a complementary session, dedicated to the topics to be prioritized by the international organisation. Rüdiger Krech (WHO) mentioned innovative approaches (both social and technical), such as e-learning, or a generalized system of "pooling" (pooling of research, data, health facilities and institutions, tools and resources, social assistance, etc.). Then, Amapola Alama (UNESCO) talked about the work and actions of the IBE (International Bureau of Education), a UNESCO center specialized in the development of educational contents and related methods or structures. Finally, Michael Lövgren (Ågrenska), spoke about a Swedish program for hosting families (for a period of one week), a rich experience totalling 5000 families, and whose results are reported in an academic article to be published soon.
The last two sessions were dedicated to Africa, and to a more global reflection on low- and middle-income countries worldwide. Samuel Agyei Wiafe, Director of RDGI (Rare Disease Ghana Initiative), presented the reflections of the three workshops of the first African Rare Disease Summit. This event, organized by RDGI and RDI, took place from December 1-3, 2021, in Ghana.
Screenshot of Samuel Agyei Wiafe's presentation.
Orphanet thanks Mr. Wiafe for his agreement.
