Thousands of people with rare diseases live in Bulgaria. Some of them are so specific that they affect single patients or entire families. The path to diagnosis is often long and expensive, and access to treatment is limited. We talk about the challenges, the lack of a national strategy and the example of Western countries with Prof. Ivaylo Tarnev, head of the Neurology Clinic at Alexandrovska Hospital and head of the Expert Center for Hereditary Neurological and Metabolic Diseases. Prof. Tarnev was a guest lecturer at the MOST Foundation seminar “Give Hope“.
– Prof. Tarnev, what is the challenge facing patients with rare diseases who need to be treated in Bulgaria? What do they face?
– Rare diseases very often require highly specialized diagnostics, which are not performed in every hospital. This is the main challenge - to reach the diagnosis, the relevant specialists and tests. Some of these tests are expensive and take years, and others are sent abroad. One of the serious challenges is precisely the diagnosis. In addition, not all rare diseases are treated etiologically or pathogenetically. Only about 5-6% have a cure, but for them it is worth the effort to be diagnosed on time and start early therapy.
– How many are these diseases and how many patients encounter them?
– There are over 7,000 rare hereditary diseases. I mainly deal with rare neurological diseases. In our expert center, several thousand patients with various diagnoses have been diagnosed and treated. Some of these diseases are more common - for example, with hereditary transthyretin amyloidosis there are about 300 patients. But there are also diseases that are so rare that they affect single patients or individual families.
– What is the role of the Health Insurance Fund? Does it act adequately with regard to medications and clinical pathways?
– Since 2013, Bulgaria has not had a national program for rare diseases. This means that it is quite difficult to provide genetic testing. This is mainly done for children through the treatment fund of the National Health Insurance Fund. But for adult patients, they must either pay themselves or participate in various scientific programs. For children, the mechanism exists, albeit bureaucratic. But for adults, it is entirely at their expense. And often these are socially disadvantaged people who cannot afford expensive tests.
– What tests are needed?
– Some diseases have a complex clinical picture and require the application of modern methods such as exome or full genome sequencing. These are expensive tests that are not provided by our health insurance fund. In Western countries, they are already routine practice, covered by health insurance funds. In Bulgaria, however, patients either do not have access or have to pay for it themselves.
– Is that why some people become “health emigrants“?
– Yes. One of the options is for the patient to actually go to the West. I know families who have ended up in the health systems of other countries. There, they undergo the necessary tests and they return to Bulgaria with an accurate diagnosis. In our country, however, these tests are carried out on a very limited scale, mainly under scientific programs, not as routine diagnostics.
– How many hospitals in our country can provide adequate care for such patients?
– Expert centers for various diseases have already been established in Bulgaria – not only in Sofia, but also in other cities. The Alexandrovska Hospital has the most – seven expert centers. These teams are trying to organize diagnostics, therapy, follow-up, rehabilitation and prevention for the diseases they are responsible for. This is a good foundation, but without a national program and without access to modern diagnostics, the system remains extremely incomplete.