NATIONAL ALLIANCE OF PEOPLE WITH BULGARIAN ASSOCIATION FOR PROMOTION RARE DISEASES (NAPRD) OF EDUCATION AND SCIENCE (BAPES) Address: 59 Dragan Tsankov blvd., 1000 Sofia, Bulgaria Address: 4 Bratia Sveshtarovi str ., 4017 Plovdiv, Bulgaria e-mail: [email protected] ; phone +359-888-323748 e-mail: [email protected] ; phone +359-897-858870 BULGARIAN EUROPLAN NATIONAL RARE DISEASES CONFERENCE FINAL REPORT I. General information Country BULGARIA Date & place of the National Conference 28-30 May 2010, Congress Centre of Novotel, Plovdiv Website www.conf2010.raredis.org Organisers National Alliance of People with Rare Diseases (NAPRD) Bulgarian Association for Promotion of Education and Science (BAPES) Members of the Steering Committee Mr. Vladimir Tomov, President of NAPRD Prof. Rumen Stefanov , President of BAPES Prof. Radka Tincheva, Chair of the National Consulting Committee for Rare Diseases (NCCRD) to the MoH Dr. Stamen Popov , Association of the Research-Based Pharmaceutical Manifacturers in Bulgaria (ARPharM) Dr. Ivelina Yordanova , Medical University of Pleven/ DEBRA Bulgaria Mrs. Dorica Dan , EURORDIS Names and list of Workshops Panel Session 1 – Rare diseases policies and recommendations for actions Panel Session 2 – Reporting proposals from the conference workshops and seminars; adopting conference memorandum Workshop 1 – Methodology and governance of the Bulgarian national plan for rare diseases Workshop 2 – Patient empowerment and specialised services Workshop 3 – Definition, codification and inventorying of rare diseases Workshop 4 – Research on rare diseases Workshop 5 – Rare diseases in the focus of hematology Workshop 6 – Rare diseases in the focus of 1 physical medicine and rehabilitation Workshop 7 – Rare diseases in the focus of immunnology Workshop 8 – Rare diseases in the focus of medical genetics and pediatrics Workshop 9 – Standards of care for rare diseases. Centres of Expertise Seminar 1 – First national training seminar for cystic fibrosis Seminar 2 – Second national seminar for thalassemia Seminar 3 – First national meeting of the primary pulmonary hypertension patients in Bulgaria Seminar 4 – Setup meeting of arthrogryposis patient association Chairs and Rapporteurs of Workshops PS 1 – Vladimir Tomov, Rumen Stefanov (co- chairs) PS 2 – Vladimir Tomov, Rumen Stefanov, Radostina Simeonova (co-chairs) WG1 – Rumen Stefanov (chair and rapporteur) WG2 – Vladimir Tomov (co-chair and rapporteur), Veska Sabeva (co-chair) WG3 – Ralitsa Yordanova (co-chair and rapporteur), Georgi Iskrov (co-chair) WG4 – Rumen Stefanov, Maria Simeonova (co- chairs), Ivelina Yordanova (rapporteur) WG5 – Valeria Kaleva (co-chair and rapporteur), Yulian Raynov, Stefan Goranov, Petrana Chakarova (co-chairs) WG6 – Troycho Troev, Ivet Koleva (co-chairs), Radostina Simeonova (co-chair and rapporteur) WG7 – Elisaveta Naumova, Mariana Murdjeva, Fani Martinova (co-chairs), Dora Popova (co- chair and rapporteur) WG8 – Maria Simeonova (co-chair), Dimitrina Konstantinova (co-chair and rapporteur) WG9 – Radostina Simeonova (co-chair and rapporteur), Stamen Popov (co-chair) Attachments (programme, list of 1. List of participants participants, etc.) 2. Conference memorandum 2 II. General Overview In recent years, rare diseases have been established as a priority area in public health of the European Union. On 27 November 2008, the Bulgarian Council of Ministers adopted the National Programme for rare diseases (2009 – 2013) in order to improve prevention, diagnosis, treatment and rehabilitation of people with rare diseases in Bulgaria. The Bulgarian EUROPLAN National Conference for Rare Diseases and Orphan Drugs was organized in the framework of the EUROPLAN Project, funded by the European Commission and aimed to provide information regarding the various steps in developing a strategic plan, to identify best practices and to exchange models and data on effective strategies for rare diseases. In this context, the event aimed to: • present the National Programme for rare diseases, its specific tasks and opportunities it offers to the medical professionals, patients and society as a whole; • make the Bulgarian rare diseases stakeholders familiar with the EU Council Recommendation on rare diseases and EUROPLAN recommendations for actions, to present and gather proposal on them, to discuss their transferability and adaptation in Bulgaria; • determine on expert level the priority rare diseases in Bulgaria and to draft proposals for actions to improve prevention, diagnosis, treatment and social integration of patients, further training of physicians, all in collaboration with national consultants and medical scientific societies in the country. The overall success of the conference was guaranteed by the good discussions that took place. That was one of the most important things - to listen to the opinion of the stakeholders - and the patients have been very active in that field. People were intersted in national developments, but also in European level actions, recommendations and practices. The conferece highlights: - Through the National Alliance, patients now can stand up and ask for their rights. Most of the rare diseases patient associations in Bulgaria are active stakeholders and the big number of proposals, coming from them during the conference means only that they are now determined as never before to make their voice be heard by the rare diseases policy makers. Patients and medical professionals initiated extensive discussions about rehabilitation and recreation of people with rare diseases. - Very high interest from the medical community and especially hematologists, immunologists, geneticists, pedeatricians, etc. who seemed to be really motivated to cooperate with the other stakeholders in order to make decent progress in the rare diseases field. National plan, Centres of expertise (CoE) and rare diseases research were one of the most discussed topics among them. Most of the medical scientific societies expressed their willingness to participate actively in the implementation of the National Plan’s priorities, to help establish the National registry of patients with rare diseases and to create and update guidelines and protocols for rare diseases management. - Rare diseases patient associations proved to be capable to use their European partnerships in order to achieve significant results on local level. Bulgarian thalassemia major and cystic fubrosis patient associations put in practice their good relations and partnerships with their umbrella organizations (TIF and CF Europe respectively) and managed to hold patient seminars with some of the EU leading experts from Belgium, Italy and Greece attending and presenting the most advanced practices of integrative approach to these two specific conditions. The fact that both these events were attended by more than 3 100 participants (patients and medical professionals) each means a lot. Additionally, two other seminars took place during the conference – the primary pulmonary hypertension annual patient meeting and a setup meeting of the arthrogryposis patient association. Patients from HAE and primary immunodeficiencies associations have been also very active in the immunology workshop. Here is an interesting fact to mention – one of the main topics of the immunology meeting was the management of primary immunodeficiencies and particularly the missing clinical pathway for them within the National Health Insurance Fund. All agreed that actions should be made as soon as possible in order to give the patients access to treatment. And just 10 days after it, this pathway was actually approved by the National Health Insurence Fund. That’s a very good example of collaboration among different rare diaseases stakeholders. - Very active participation at the conference organization by the medical students. The conference co- organizers have a long history of good partnership with Association of medical students in Bulgaria and this event was not an exception. More than 20 students attended the meeting and it’s an excellent sign that the future health professionals will be well introduced in the rare diseases’ topics. It’s well to mention that many students took part at different workshops’ preparation and some very good ideas for common project of patients and students came during the conference. - The official patron of the conference was the Bulgaria’s First lady – Mrs. Zorka Parvanova, who sent a greeting message to the participants, expressing once more her support for the rare diseases cause and gratitude to the NAPRD and ICRDOD, as leading rare diseases stakeholders in Bulgaria. The event was also supported by the National consulting council for rare disease to MoH, University hospital “St. George” and the Bulgarian Scientific society for clinical and transfusional hematology. - ZDRAVE.net was the official media partner of the event. This webportal is one of Bulgaria’s leading healthcare and health system information services. ZDRAVE.net published a series of rare diseases articles before and after the conference which helped a lot to increase the number of conference participants and to promote the event’s objectives to wider public. 4 III. Main Report Theme 1 - Methodology and Governance of a National Plan / Strategy (NP) Sub-Themes 1. Mapping exercise before developing a National Plan 2. Development and structure of a National Plan / Strategy 3. Governance of a National Plan 4. Monitoring the National Plan 5. Sustainability of the National Plan Workshop 1 Chair : Prof. Rumen Stefanov (BAPES;