23 May 2019 marked a historic day for the rare diseases movement with rare diseases being featured on the agenda of the World Health Assembly (WHA) for the first time. Rare Diseases International (RDI) is proud to have contributed towards the formal and informal events which shone a spotlight on the importance of including rare diseases to leave no one behind in Universal Health Coverage. These events formed part of the long term strategy aiming to position rare diseases as an international policy priority.
RDI Council members speak at formal rare diseases event on digital technologies
Rare diseases are at the forefront of digital health and exemplify high added value of regional and global approaches. New digital tools are already being used to address the challenges of the 300 million people living with a rare disease to connect highly isolated patients, enable access and speed up diagnosis, refer to specialized medical expertise, to gather and share expertise on highly complex care and accelerate clinical research. The formal side event, part of the official WHA agenda and sponsored by permanent missions from the European Union, Romania and Kuwait, used rare diseases case studies as an example to highlight the potential of digital health to achieve Universal Health Coverage. The event was co-sponsored by an additional nine Member States which demonstrated high level of interest and support.
Durhane Wong-Rieger, Chair of RDI and CEO of Canadian Organization for Rare Disorders, welcomed the 240 attendees and opened the session, which included video testimonies from patients, key note speeches, presentations and a panel discussion. Amongst the presenters was Yann Le Cam, member of the RDI council and CEO of EURORDIS-Rare Diseases Europe. Mr Le Cam highlighted how digital technology can accelerate time of access to diagnosis and help patients to find the right experts and specialized services for their rare disease. He stressed the need for a framework of definition, classification, codification and validation by the WHO of certain ontologies, (such as the Human Phenotype one, the International Classification of Diseases (ICD) or the International Classification of Function (ICF)) as essential conditions to succeed.
Mr Martin Seychell of the Health Directorate of the European Commission, showcased the European Reference Networks as an example of how digital technologies can improve coordination of care and facilitate the collaboration of experts across borders and even accelerate research.
In her closing remarks, Dr Soumya Swaminathan, Chief Scientist, WHO, reaffirmed the WHO’s interest in integrating rare diseases within its programme of work.
RDI brings rare disease stakeholders together at informal side event
Rare Diseases International, in collaboration with the NGO Committee for Rare Diseases, took the opportunity to host a free, informal side event open to all attendees of the WHA. 65 patient advocates and rare disease stakeholders attended the event, which served to present RDI’s position on Universal Health Coverage (UHC), following the publication of the position paper published in April 2019. The event was also an occasion to launch a plea for rare diseases to stay within the published draft of an upcoming political declaration on UHC, being signed in September at the 23rd UN General Assembly.
Attendees had the opportunity to network over a drink before the presentations began. The keynote address was given by Mr Todd Howland, Chief of the Development and Economic and Social Issues Branch, Office of the United Nations High Commissioner for Human Rights, who shared his poignant personal journey to access treatment for cancer and confirmed the position of rare diseases within the human rights agenda.
A panel made of clinician and patient advocate from the Philippines and the heads of the world federations for Haemophilia, Thalassaemia and Spina Bifida and Hydrocephalus, described need and benefits of including prevention, early interventions, access to diagnosis and treatment in UHC. During the panel discussion, moderated by Durhane Wong-Rieger, the speakers provided country and disease specific examples on the benefits that providing extensive coverage can have on patient outcomes and quality of life and demonstrated it is possible to include rare diseases in programmes, policies and legislations of lower middle income countries.
The closing remarks were provided by Dr Rüdiger Krech, Director, Universal Health Coverage and Health Systems, Office of the Assistant Director-General, World Health Organization. Dr Krech confirmed WHO’s intention to move towards a Memorandum of Understanding with RDI and for the first time, mentioned publicly, the «WHO Global Networks for Rare Diseases».
The World Health Assembly
The World Health Assembly takes place annually in Geneva, Switzerland. It is the forum through which the World Health Organisation (WHO) is governed by its 194 member states. It is a health policy setting body composed of health ministers who meet to decide major policy questions and approve the WHO work programme and budget. In the side lines, hundreds of side events take place, organised by member states and by non-state actors, either within the UN buildings or outside. This year was the 72nd World Health Assembly and the overarching topic was Universal Health Coverage.
Informal side event – Universal Health Coverage: including rare diseases to leave no one behind
- GLOBAL FIGURES, DEFINITION AND VISIBILITY – Video presentation by Dr Ana Rath, Director, Orphanet INSERM
- HOPES AND CHALLENGES OF PEOPLE LIVING WITH A RARE DISEASE – Mr Yann Le Cam, Chief Executive Officer, EURORDIS -Rare Diseases Europe and Treasurer of the Council of Rare Diseases International
- INCLUDING RARE DISEASES IN THE NATIONAL HEALTH SYSTEM – THE CASE OF THE PHILIPPINES – Dr Carmencita Padilla, Professor of Paediatrics at the College of Medicine and Chancellor of University of the Philippines Manila
- PREVENTION AND EARLY INTERVENTIONS – THE CASE OF SPINA BIFIDA AND HYDROCEPHALUS – Mr Lieven Bauwens, Secretary General, International Federation for Spina Bifida and Hydrocephalus
- IMPROVING DIAGNOSIS, REDUCING MISDIAGNOSIS – THE CASE OF THALASSAEMIA Dr Androulla Eleftheriou, Executive Director, Thalassaemia International Federation
- ACCESS TO TREATMENTS PROGRAMMES – THE CASE OF HAEMOPHILIA Mr Alain Weill, President, World Federation of Hemophilia Q&A AND DISCUSSION