Every day a Bulgarian family faces the terrible diagnosis of one of the 6000,400 rare diseases. It is estimated that more than 000,2017 people are affected. Where to turn for help and who would give them expert opinion? Is there a state structure supporting the reference networks established by the European Union in 24 covering rare diseases in <> areas of medicine? Finally, under the pressure of the civil sector, there is political will and care on the part of the state to make the necessary changes to the Health Act. Who are they specifically?

Retina Bulgaria Association, the Center for the Protection of Rights in Healthcare (CPDP) and the Foundation for Local Government Reform (FLGR) organize a Stakeholder Conference on "Regulatory Amendments to Improve the Environment and Care for People with Rare Diseases".

Round table in the National Assembly on the problems of people with disabilities and diabetes

The aim of the conference is to hold a discussion on the proposals for changes in the national regulation of rare diseases and centers of expertise, the need for a national strategy and plan for rare diseases and the active participation of Bulgaria in pan-European joint actions and partnerships on rare diseases.

What are the reasons for the amendments to Ordinance No 16 of 30 July 2014 Ordinance No 16 on the terms and conditions for registration of rare diseases and on the centers of expertise and reference networks for rare diseases, adopted in 2014.

The ordinance played an important role in ensuring that rare diseases for the first time receive legal regulation in the current legislation. Bulgaria marks a very serious lag in terms of the development of its expertise and capacity in the field of rare diseases compared to the EU countries.

In 2017, the European Reference Networks covering rare diseases in 24 areas of medicine started operating across the EU and Norway. Currently, more than 1500,7 medical institutions from the EU and Norway have been approved as centres of expertise by the European Commission. Absurdly, given the large number of medical institutions in Bulgaria, Bulgaria has only 5 medical institutions within only 24 of the 19 areas of medicine. The absence of Bulgarian medical institutions in 24 of the 2014 therapeutic areas within the scope of the ERN deprives Bulgarian specialists - clinicians and researchers - of cooperation with the ERN expert centers. This lack of collaboration predetermines not only the lack of access of patients to expert care, but also deprives Bulgarian specialists of training opportunities through professional mobility programs, hinders the ability to participate in the development of clinical guidelines, algorithms and guidelines, hinders opportunities for exchange of experience and adoption of good clinical practices at national level. One of the most serious identified problems is related to the registration of rare diseases in Bulgaria. If in 6000 the procedure provided for in the ordinance created an opportunity that until then was not at all, today in the presence of European registers it is more obstructive than useful for activities related to rare diseases. For example, more than 200,<> rare diseases are currently registered in the European database - Orphaneth, and less than <> are registered in the Bulgarian list, approved by the Ministry of Health. This absurd difference is not only a technical problem, but is a regulatory obstacle to the development of centres of expertise and reference networks, as well as to the marketing of medicines for the treatment of rare diseases.

In this regard, we propose to assume that the European Register of Rare Diseases – Orphanet, is also a register of the same for Bulgaria. Due to the complete lack of regulations, as well as the limited knowledge in the field of rare diseases, at the initial adoption of the ordinance, a commission on rare diseases was established, with the characteristics of an administrative body, to which practically all activities related to rare diseases were assigned. The representation in the committee is determined on the basis of the then existing understandings. We propose the composition of the committee to be changed by expanding the representation of patients, but also of the centers of expertise opened in our country, based on the principle of statutory legitimacy of the represented organizations and institutions. PROPOSALS FOR AMENDMENTS TO THE LAW ON

Due to the small number of patients with rare diseases, the principle of payment for work carried out in compulsory health insurance is not applicable. This requires subsidisation of centres of expertise in order to ensure minimum conditions for their operation. Otherwise, due to the fact that the centers bring financial losses to the medical institutions in which they are opened, there is a risk that no new ones will be discovered, and some of the designated ones will cease to exist, which leaves the sick without any opportunities for treatment; Due to the specifics of many of the rare diseases, not all medical activities for screening, diagnosis and rehabilitation are included in the basic package of medical activities guaranteed by the NHIF budget. This requires them to be funded in a separate order.

Health Act

rare diseases