Since its establishment in 2003, the Bulgarian Association for Promotion of Education and Science, BAPES (a non-government non-profit organisation) has been working to raise the awareness of rare diseases among the medical community and the society as whole in Bulgaria. By participating in a number of major EU-funded projects, implementing a series of epidemiological registries and organising rare disease-orientated public and scientific events, BAPES helps to stimulate fundamental, clinical and public health research on rare diseases in Bulgaria, as well as the development and provision of care and services for people with rare diseases and their families.
BAPES has consecutively launched the Information Centre for Rare Diseases and Orphan Drugs, ICRDOD (2004) and the “RareDis” Medical Centre (2009), as project activities that are explicitly designed to meet the rare disease patients’ needs for reliable information and for opportunities for adequate diagnosis, treatment, follow-up and rehabilitation. A volunteer team, comprised of more than 20 leading medical professionals, stands behind the efforts of ICRDOD, which has created an extensive rare disease open access online library in Bulgarian language.
BAPES is an active participant in all major European public health projects in the field of rare diseases (e.g., Orphanet, EUROPLAN, EPIRARE, BURQOL-RD, RARE-BESTPRACTICES, STORE). Thanks to the partner relations with leading European institutions in epidemiology, health planning and management, health economics, medical law and ethics, BAPES staff has developed a high level expertise that transferred on national and regional level, fostering rare diseases activities in each area. BAPES closely works with other Balkan and Eastern European patient organisations and medical societies from Russia, Turkey, Ukraine, Romania, Serbia, Georgia, Armenia and Macedonia. Short examples of these activities include the strategic support and expertise that BAPES has provided to patient coalitions in Romania and Russia to implement their own information services following the model of ICRDOD, the six editions of the Eastern European Conference for Rare Diseases and Orphan Drugs (2005 – 2011), as well as the Rare Diseases Summer School for Health Authorities and Legislators (2010 –).
Sharing and disseminating information and ideas is the guiding principle in the activities of BAPES. Since 2010 ICRDOD has started systematising the experience on rare diseases and orphan drugs in the country, facilitating various medical professionals, healthcare institutions, patient associations and industry in accessing relevant and reliable data on all rare disease issues. As a result, a series of thematic reviews was produced, as well as an online newsletter “Rare Diseases & Orphan Drugs” (ISSN 1314-3581 – Bulgarian version / ISSN 1314-359X – English version).
BAPES launched a third new project activity in 2013 – the Centre for Health Technology Assessment and Analysis, CAHTA. It would take over the dynamic area of health technology assessment, particularly in field of rare diseases and orphan drugs. Introducing and applying the concept of health technology assessment in Bulgaria will allow for more transparency, objectivity and efficiency in the health system. Availability of capacity and settings for conducting rare disease-specialised health technology assessment is crucial for the ultimate success of all policies and strategies for rare diseases in the country. The most important outcome is the extended life expectancy and improved quality of life for patients with rare diseases. These two measures directly depend on the timely access to advanced diagnostic and therapeutic health technologies. Proper and reliable assessment of innovative technologies is not only important for rare diseases, but also for the overall effectiveness of national health systems.
Starting from September 2013 the three units, ICRDOD, “RareDis” and CAHTA have been territorially and functionally united into a single institution – the Institute for Rare Diseases, the very first and only interdisciplinary and multifunctioning rare disease organisation in Eastern Europe. The Institute gives a comprehensive and coherent framework for the rare diseases and orphan drugs in the country, helping to achieve the most important objective of BAPES – modern, accessible and quality care for people with rare diseases.