Almost 4 years to the day since the Bulgarian Association for Promotion of Education and Science (BAPES) submitted to the Bulgarian Ministry of Health the first proposal for the establishment of a National program for rare diseases and orphan drugs, the implementation of the Plan, is now under way. ‘In 2009, Bulgaria will be one of the few countries in Europe which will start implementing its own national strategy for rare diseases,’ says Dr Rumen Stefanov, President of BAPES. ‘The first areas of work, as projected in the plan, are: improving prenatal and neonatal screening, as well as carrying out specific actions aimed at building a set of criteria and procedures for official designation of centres of reference for rare diseases.’
On 9 February 2006, ICRDOD presented a new proposal for the establishment of a National Program for Rare Diseases and Orphan Drugs to the Bulgarian Ministry of Health. The initiative was supported by leading European organizations like the Rare Disease Task Force, Orphanet, EURORDIS, as well as key opinion leaders in the field of medicine in Bulgaria. As a result of this proposal, the former Minister of Health issued an order and established the first official expert group, led by Dr. Rumen Stefanov, to prepare and submit a National Plan for rare diseases to cover the period 2007-2011. The draft of this Plan was submitted to the Ministry of Health in November 2006. In the meantime patient groups organised under the Bulgarian National Alliance of People with Rare Diseases (NAPRD) were actively lobbying for the adoption of the Plan through the Parliamentary Commission for Health and the Ministry. In November 27, 2008 the Bulgarian Council of Ministers officially adopted the National Plan for Rare Diseases - genetic disorders, congenital malformations and nonhereditary diseases (2009-2013).
The National Plan for Rare Diseases consists of nine priorities: 1. Collecting epidemiological data for rare diseases by creating a national register. 2. Improving the prevention of genetic rare diseases by enlarging current screening programmes. 3. Improving the prevention and diagnostics of genetic rare diseases by introducing new genetic tests, decentralising laboratory activities and improving access to medical genetic counselling. 4. Integrative approach to prevention, diagnosis, medical treatment and social integration of patients and their families. 5. Promotion of the professional qualification of medical specialists in the field of early diagnostics and prevention of rare diseases. 6. Feasibility study on the necessity, possibility and criteria for the creation of a functional reference centre for rare diseases. 7. Organising a national campaign to inform society about rare diseases and how to prevent them. 8. Support and collaboration with NGOs and patient associations for rare diseases. 9. Collaboration with the other EU members.
‘The most important aspect of this complex process is that the Council of Ministers has approved not only the plan itself, but also the financial resources, needed to implement the activities,’ explains Dr Stefanov. The total budget of the plan is about 22.1М BGN (approximately 11.3 million euros). Besides the budget, the other aspect that might give this Plan a greater chance to succeed is that the people who made it happen are already thinking about how to make it operational. In December 2008, the National Consultative Committee on Rare Diseases, responsible for the Plan’s implementation, was created at the Ministry of Health. The committee is made up of various experts and also of representatives of the National Alliance of People with Rare Diseases to consult patient organisations and guarantee that they are included in the process.
The relatively fast ascension of rare diseases as a public health priority in Bulgaria should give hope to others seeking to do the same thing. ‘We started with very little and, in a country with so many economic problems such as Bulgaria, we were not sure rare diseases stood a chance. Nevertheless, it got the attention it deserved in part thanks to our integration into the European Union and to the best practice other European countries have showed us.’ says Dr Stefanov. ‘Today, the hardest part of the journey remains: that is the implementation of the Plan.’