Would you present yourself to the readers of “Rare Diseases & Orphan drugs”?
Elena Eneva (EE): My name is Elena Eneva and I am a board member DEBRA Bulgaria – patient organisation of persons, affected by epidermolysis bullosa. I`m a mother of two children who suffered from this disease.
Assoc. Prof. Margarita Genova (MG): I am head of the Laboratory of Immunology and Hematopathology at the National Hospital Hematological Diseases in Sofia (NSBALHZ). Associate Professor in Hematology and Blood Transfusion. President of the Bulgarian Medical Society of Hematology (BMSH).
Nadezhda Tsekulova (NT): My name is Nadezhda Tsekulova, a journalist at the Bulgarian National Radio. I have been focused on health journalism from 10 years.
When was the first time you encountere the rare diseases problem?
EE: I first heard the term “rare disease” 5 years ago when my youngest son was born. Diagnosis was set on the second day after birth, really fast. The senior dermatologist, who consulted us, said that she has never personally seen a person with this disease. She could not offer us concrete ways to treat or at least take care of our son. With the help of friends and search on the Internet, we got in contact with a disease specialist – Dr. Yordanova from Pleven University Hospital, and later on with doctors of epidermolysis bullosa centres in London and Salzburg. Thanks to their extensive experience with such patients and work in an interdisciplinary team, they were able to meet more comprehensively the diverse issues of this disorder and helped me a lot for my son’s care. Epidermolysis bullosa patients have a very fragile skin and mucous membranes. It is important that healthcare professionals who treat such persons, to be specially trained. Otherwise, they could cause serious harms. In 2009 we visited the specialised centre in Salzburg and there we were convinced that patients with this rare illness need care from a team of specialists in a separate unit.
MG: In 1988 I began my professional career in the diagnostic section of the NSBALHZ in Sofia. I immediatlely faced the challenge of rare diseases and this issue has played a significant role in whole my professional development. Most of the diseases of hematopoietic and lymphoid tissues are rare – the prevalence of each nosology is extremely low. Diagnosis and proper classification require timely referral of patients and implementation of a set of laboratory approaches. The changes of classification systems and the differentiation of separate hematological nosological entities during the last 1-2 decades set high standards, both for diagnostic and clinical teams. For example, there were a dozen of leukemia subtypes in the 80s, nowadays the current classification of hematological malignancies of the World Health Organization states over 45 different types. If the classic microscopic methods and experience of the expert were sufficient before, current diagnosis is based on a set of morphological, immunophenotype, clinicochemical, cytogenetic and molecular tests, refracted through the clinical information of each case, which supposes the need of a whole team of experts. You learn to think of each patient as a separate universe, and to approach each patient as a unique case. Because of their rarity hematological diseases share similar challenges with the other rare diseases. Patients often reach proper diagnosis after considerable time, after a difficult way from one specialist to another, hoping to finally find a solution, but also doubting if this time it will happen. Thus, our work places the need and obligation for continuing professional training, search of new and unknown approaches, but also for simple human understanding to the patient and his relatives. Meeting these expectations led me to take a number of professional and personal commitments that have guided me through my career both as a mecial professional, a researcher and an active member of BMSH.
NT: Nine years ago. Then a family member was diagnosed with a rare disease and I first personally faced the problems of people with rare diseases.
What are your impressions of this year’s National Conference for Rare Diseases?
EE: The theme of this year’s conference was very relevant and I am glad that the issues related to rare diseases policy move towards more practical aspects of organising healthcare for these patients. I think the shared experience will be useful to all who have built centres of expertise yet or are preparing for their designation criteria.
MG: Held on 14-15 September 2012 in Plovdiv, the National Conference was an important event that for third consecutive year in a row made it clear that the issue of rare diseases and orphan drugs has permanently taken place in the agenda of medical professionals, but it has also concentrated patient seminars, providing an environment for beneficial meetings and contacts among all rare diseases stakeholders. The meeting reinforced the expectations that the event would set out key rare diseases issues for Bulgaria. So the focus of the Third national conference outlined the rare diseases centres of expertise as a real platform to overcome the difficulties in diagnosis, prevention of complications and development of treatment plans and comprehensive support of patients with rare diseases and their families. Participants met with a significantly complete concept through the perspective of health professionals, experts and patients and their stated desire for practical implementation. One of the most important breakthroughs of the conference was the involvement of the institutions in the face of the National Assembly, the Ministry of Health and the National Health Insurance Fund, giving a political commitment to the rare diseases cause.
NT: Contradictory. I met with people who have the desire, ambition and willingness to work to change the system in a positive direction in order to provide treatment and care for patients with rare diseases. Among them – both patients and doctors have enthusiasm and readiness to sacrifice personal time, effort and work to achieve the final result. But I also met people, who, after more than 20 years after the so-called “transition”, are still waiting for the change to start from the top. I heard a call to institutionalise communication between different medical units and many, many complaints about the lack of clinical pathways and adequate funding. I can not deny the defficit of resources and the unenviable position that medical professionals take today. However, it is an indisputable fact that the expert community namely is the one which is expected to give impetus to change. By legislation and by default experts are those who have to write a clinical pathway, to justify it to the appropriate medical society and the Bulgarian Medic Union, which in turn to defend it when negotiating with the National Health Insurance Fund the annual national healthcare framework contract. I can not accept experts with large a huge CV, who admit with no fear that patients are not treated as by standard, because the “State” do not “provide” the necessary conditions. In times like today, passing beneath the leitmotif of the global crisis and increasing healthcare costs, medical professionals should uphold the right to apply their expertise at the highest level. Otherwise, I do not see a point in their acclaimed scientific and professional titles.
You personally connect the concept of centres of expertise for rare diseases with what?
EE: For me, the concept of the centres of expertise is a humane and effective way to provide care for people suffering from chronic diseases, which often affect several organ systems. These patients require complex treatment and it is impossible to get it going from one doctor’s office to another one where they treat only one of the many problems. A man is not a simple set of the component parts, that’s why a combined expertise of various experts is required to offer the most appropriate solution. I think we are no longer discussing whether to have centres of expertise or not, but how to organise and fund them.
MG: The concept of centres of expertise is very close to me as a professional with extensive experience in the field of hematology. With the easy access to information, the significant advances in technology and pharmacy, and the raised expectations of patients, physicians and society in general over the last decade, it is now neither technically feasible nor financially justified nor ethical to leave patients with rare diseases to the random access to medical care. There is a long lasting belief that the broad spectrum of needs of people with rare diseases can be best satisfied only in specialised centres through the coordinated delivery of comprehensive healthcare by a multidisciplinary team in accordance with national guidelines for diagnostic and therapeutic behavior that gets a clearer formulation from the European institutions thanks to specific quality criteria and recommendations for the establishment of centres of expertise for rare diseases in the Member States. In my opinion, centralisation has major advantages, such as the application of uniform criteria for the diagnosis, treatment and follow up of various diseases, equal access to highly specialised medical diagnosis and adequately controlled treatment for a large number of patients, flexibility and rapid implementation of advanced scientific and technological developments, new diagnostic tests, medication, modern approaches to rehabilitation and social adaptation of patients and their families, economic efficiency, building a database of diseases, possibilities for analysis and epidemiological studies, opportunities for research, and last but not least, expert training and qualification of medical professionals.
My long year work in NSBALHZ, that concentrates one of the most difficult to diagnose and treat patients in the country, has convinced me of the importance of the coordinated multidisciplinary team approach, particularly when it comes to rare cases which are hardly recognisable. It is not accidentally that our hospital is known among the medical community as “the Centre” because it actually exists for decades not only close collaboration between clinical laboratories and specialised units, but also well defined interdisciplinary teams and structures, such as the Sector for thalassemia and hemoglobin pathologies, the Sector for hemostaseology, the Transplantation centre, the Specialised hematology laboratory block, etc. The concept of centres of expertise has long been a recognised need that had become a philosophy and mission for generations of hematologists who have devoted their lives to the hospital and its patients.
As president of BMSH, the issue of centres of expertise for rare diseases also poses for me specific tasks and responsibilities. The formed within the society working groups for congenital anemia and coagulation disorders, leukemias, lymphomas and myeloproliferative diseases have taken the very important task to enforce the best modern professional approach – that of the interdisciplinary care, focusing on a wide range of professional specialists in close collaboration with institutions and patient organisations. BMSH has always been and will remain the most natural partner of hematology professionals, patients and their families in their efforts to not only raise the level of professional expertise in this very difficult to work field, but also to actively contribute to the dissemination of knowledge among the medical community and among the general public, to mobilise the efforts of experts, prominent public figures, policy makers and decision takers, patients and their relatives, media and pharma industry in solving the vital problems of people with rare diseases. In this regard, it is quite understandable that the concept of centres of expertise for rare hematological diseases is at the center of our activities – organisation of workshops dedicated to interdisciplinary care of patients with rare blood diseases, preparation of proposals for specific criteria and indicators for centers for congenital anemia and coagulopathies to be included in the legislation, communication with official institutions, patient organisations, etc.
NT: With improving communication both within the community of experts on rare diseases, as well as between them and other medical professionals, and between the medical community and patients. I think the administration of these centres has a simple mission – to make the already existing expertise recognisable and visible for the society. Simply put – both doctors and patients to have easy and quick access to information on how to reach the best experts when there is suspicion for some rare disease or a range of rare diseases.
Is it realistic to see the first officially designated centres of expertise for rare diseases in Bulgaria in 2013?
EE: The name and function are two different things. Yes, I think it is entirely possible to create centres of expertise within this year, but I think it will take more time until they become truly effective. The important thing is to launch these structures, and subsequently to fill them with staff and resources in order to improve the organisation of treatment and care.
MG: During the National Conference it was presented data that clearly demonstrate that Bulgaria has created conditions for creating centres of expertise, in particular in the field of hematology – centres for complex treatment of congenital anemia and coagulation disorders.
This is no coincidence. If you review the internal structure of rare diseases in Bulgaria, it is easy to see that hematological diseases comprise the majority of these cases. Only the patients with thalassemia major and hemophilia are nearly 1 000 people across the country of the estimated total number of 5 000 rare diseases patients. Looking at the distribution of patients with thalassemia and hemophilia in the country, it’s easy to see where is concentrated the largest number of patients and follow-up treatment: total thalassemia major patients in Bulgaria 255, of which 98 are followed up in Sofia, 56 – in Varna, 55 – in Plovdiv, 24 – in Stara Zagora and 22 – in Pleven. Congenital coagulopathies, including hemophilia A and B, and Willebrand’s disease – total of 720 patients, 252 – Sofia, 163 – Plovdiv, 123 – Varna, 92 – Stara Zagora, 90 – Pleven. It can be identified experts and long existing units in which a system for in-depth therapy and follow-up is established: NSBALHZ and University Pedaitric Oncohematological Hospital (SBALDOHZ) in Sofia, University Hospital “St. George” in Plovdiv, University Hospital “St. Marina” in Varna. The analysis shows that EUCERD quality criteria for centres of expertise are largely applicable to the mentioned structures.
On this basis, I believe that the health authorities’ idea for the creation of pilot projects for the diagnosis, treatment and follow-up of rare diseases is extremely important and could be further refined by serious discussions and collaboration with the medical professionals, and sure not without the participation of patient organisations and patient perspective. Prompt legislative changes regarding the quantitative and qualitative criteria which the centres for complex treatment of rare congenital anemia and coagulopathies must meet, as well as regulation of their activities and adequate funding would allow the official designation of the first centres of expertise for rare hematological diseases as early in 2013.
NT: It is necessary. However, it’s a subject of another discussion whether certain legislative drafting positions will lead to a real solution of the system’s problems. I think the greater challenge is not when, but how to create and formalise these centres of expertise. Because if it’s just another administrative unit, that does not bring real added value to the quality and comfort of medical professionals and patients, it is pointless.
What is your message to the readers of “Rare Diseases & Orphan drugs”?
EE: Be proactive in solving problems and do not be afraid of the big goals – although with tiny steps, they are ultimately achievable.
MG: I would like to finish with the message of the European Conference on Rare Diseases and Orphan Drugs – “The diseases are rare, but the support doesn’t have to be”.
NT: I wish all of us – no matter what field we are engaged in – to believe more that change starts from each of us. Expecting problems to be solved by someone else or some external force rarely leads to real results.