Less than a month before the Second National Conference for Rare Diseases and Orphan Drugs in Bulgaria, we are back to the topic of events dedicated to rare diseases. Here, however, we will not dwell on how little is known about rare diseases and how much is still to be done on these issues. The philosophy of this kind of events is the direct contact among participants – the exchange of experience, best practices, creating partnerships, joint projects. Rare diseases are very broad topic and many good ideas have already been realized in practice. Learning based on international experience is highly recommended, because, for example, the path which Bulgaria took in 2008 with the adoption of a national plan for rare diseases, has been already taken and done by others. It is absolutely no necessary to make some great discoveries, already adopted and widely recognized tools as the centers of expertise on rare diseases, epidemiological registries, involvement of patients in planning and managing these programs, etc. Just have to be analyzed, adapted and applied on local level.
The rare diseases conferences serve precisely this – to be a place where any rare diseases stakeholder (patients, doctors, health authorities, industry, media) will have access to this useful information on innovations and best practices, could interact with renowned experts on these issues and in own turn to work for their implementation and promotion. The growing number of participants in this kind of events speaks eloquently about their success and usefulness.
In the already traditional for our newsletter blitz-interview we have asked for the opinion of two very important for the rare diseases cause people in Eastern Europe – Mrs. Svetlana Karimova (President of the National Organization of Associations of Patients with Rare Diseases “Genetics”, Russia) and Mr. Vladimir Tomov (President of the National Alliance of People with Rare Diseases, Bulgaria). Our choice was not accidental, because the patients’ feedback is the most precise indicator of the helpfulness and effectiveness of an initiative. Additionally, both Mrs. Karimova and Mr. Tomov have experience from the other side, being co-organizers of past editions of the Eastern European Conference for Rare Diseases and Orphan Drugs.
First of all, what are the challenges of organizing an event, dedicated to a topic, which was untill recently practically unkown in your country?
Vladimir Tomov (VT): A major problem in rare diseases field is the insufficient amount of information. Conferences as a form of information exchange event is the most effective and appropriate way to deal with that. Eastern European countries have specific, very similar characteristics and problems and there is a need to consider them comprehensively and concentrated at specialized events.
Svetlana Karimova (SK):Holding such an event was new for our country, rare diseases topic had just begun to be discussed more widely. In this prospective, the conference was of great importance to all rare diseases stakeholders in Russia. A very big number of doctors and patients stated their intention to participate in the Fifth Eastern European Conference for Rare Diseases and Orphan Drugs, as well as in the parallelly taking place First All-Russian Conference for Rare Diseases. Due to the large size of our country, some of them could not attend for clearly financial reasons. So, in the future we plan direct online translations of these events in order to help more and more people from remote regions in their quest for more information and knowledge for rare diseases.
Is it duffcult to promote rare diseases theme? Who is most interested in rare diseases awareness raising?
VT: Undoubtedly these are the patients and their families. But we must also not forget to inform the medical professionals because of their professionalism and dedication, which are a major factor in the fight against rare diseases, as well as the health authorities, who are also a key participant in the exchange of information.
SK: Working on this matter is not so easy. Health legislation in our country is completely outdated and modernization of the entire health system of the Russian Federation is currently carried out. Serious work is being done on the Citizens’ Health Protection Act, in which it is expected to appear a special text (Article 44) for the first time in Russia, which will be dedicated to the rare diseases field and will regulate the establishment of a federal list of rare diseases (it currently contains 86 disorders) and the maintenance of federal registries for them. We strongly hope that the state authorities will keep their promises and will ensure the implementation of these activities. Huge efforts have been done by both patients and health professionals in Russia to get to this point. These are certainly the most interested parties, but the pharmaceutical industry has its role, too. Recently the regional health authorities have also begun to show significant interest in dealing with rare diseases problems.
Does the international cooperation help in dealing with rare diseases problems in your country?
VT: Based on this kind of cooperation, we receive information that points us in the field of rare diseases, gives us access to definitions, achievements, statistics and best practices. Thus enabling us to anticipate problems that the others have faced years ago and, in turn, we resend this information to less-informed rare diseases stakeholders. On the basis of the international cooperation and experience was established the National Alliance of People with Rare Diseases in Bulgaria.
SK: Of course, especially in informational aspect. It has been now for more than four years as we are actively collaborating with the Information Centre for Rare Diseases and Orphan Drugs and the National Alliance of People with rare diseases in Bulgaria. There is a constant information exchange channel between us and we have been working on joint projects such as the Fifth Eastern European Conference in St. Petersburg, as well as the upcoming Rare Diseases Summer School, which will be attended by many Russian doctors and representatives of health authorities. We are very grateful for that support and cooperation, that we receive also from the Italian National Centre for Rare Diseases and its director, Dr. Domenica Taruscio.
How was the experince gained from the event transferred on local level? What positive outcomes did the conference produce?
VT: At the beginning of the cycle of Eastern European conferences on rare diseases people had no idea even of the definition of a rare disease. Now, we have many rare diseases patients groups and associations, as well as rare diseases task force teams on state level, which are dealing with the specific rare diseases legislative changes.
SK: Indeed we have already gained considerable experience in these issues, but the question is whether our country is ready to take that experience. We have to do “small steps” and it’s very difficult when you know that you can make a big step forward and help in that way many rare diseases patients and their families. Russia is a big country and has its specifics. Not everything that is being done in Europe, can be applied here. A lot of things need to be adapted to our situation.
The Fifth Eastern European Conference really gave power to the formation of the new legislation. Because when we started actively posing questions about rare diseases, it became clear that the direct legal involvement of these issues would be meaningless without the implementation of changes in other directions as well as modernization of our health system. We are very proud to say that this event helped very much for that big break.
How could such events continue further playing important role in rare diseases field?
VT: By keeping regularly holding events of this kind, multiplying the conferences on rare diseases on national level, as well as the symposia and workshops on specific rare diseases. Once the conduct of Eastern European Conferences for Rare Diseases has been delivered outside of Bulgaria, we initiated annual national conferences on these issues. This initiative is observed in both Bulgaria and Russia and we hope to continue in the future.
SK: The implementation of such events is crucial. Besides of offering a large amount of information, they are creating conditions for international contacts and communication between patients and health professionals. The fact that lots of physicians come to such events come shows that they truly and sincerely support their patients’ cause. I really appreciate it very much. The consolidation of efforts in this field is very important for the further promotion of the rare diseases topics worldwide. The common problems provide a basis for work on joint projects and strategies.
What would like to see during the Sixth Eastern European Conference for Rare Diseases and Orphan Drugs, taking place this November in Istanbul?
VT: The greatest need is about the discovery and application of successful therapies for rare diseases, so we expect to hear about new effective and available therapeutic methods and devices. Thus we give hope and strength to patients and their families.
SK: I would like to see more rare diseases stakeholders, which I am pretty sure it will be. I personally recommend paying attention to the poster session, because very often it is offering much more interesting information than that at the plenary sessions’ presentations. I wish god luck and success to the organizers and I would like to take this opportunity to thank them for inviting me as a speaker.