How many people suffering from rare diseases in Bulgaria?
Based on current scientific knowledge, between 6 000 and 8 000 different rare diseases affect 6% of the total EU population at some point of life. In other words, about 15 million people in the European Union (27 Member States) are affected or will be affected by rare diseases. For Bulgaria, whose population is about 7 500 000 (by 2011), the number of patients with rare diseases is expected to be about 400 000 – 450 000 people.
This statistic shows that even if the diseases are rare, patients with rare diseases are many. It is not unusual person to be affected by a rare disease as a rare disease affects not only the patient but also his whole family in one way or another. In this sense, it is difficult to find a family in which nobody is affected by a rare (or strange, unexplained, bizarre) disease.
What are the causes of rare diseases?
It is proved that about 80% of rare diseases are of genetic origin, one or several genes or chromosomal abnormalities are being affected. They may be inherited or be a result from a de novo gene mutation or chromosomal abnormality. This occurs in 3% to 4% of newborns. Other rare diseases occur as a result of infections (bacteria or viruses) or allergies, or due to degenerative, proliferative or teratogenic (chemical, radiation, etc.) reasons. Some rare diseases are caused by the combined action of genetic and environmental factors. But for most rare diseases the etiologic mechanism is still unknown due to lack of research in this area through which to reveal the pathophysiology of the disease.
What are the problems posed by rare diseases?
Rare diseases cause problems to the medical professionals, to the patients themselves and their families, to the society as a whole and to the health system of each country. The problems for all these groups are the same:
· insufficient information;
· delay in diagnosis;
· lack of treatment.
Where people with rare diseases can receive support?
In many European countries patients with rare diseases and their families are united in associations, which play a vital role in disseminating information, ensuring public support, lobbying for the creation of an adequate legal framework to protect their human rights, promotion of research.
Since 2004, the Information Center for Rare Diseases and Orphan Drugs (ICRDOD) – the first and Eastern educational and information service dedicated to patients, medical professionals and associations, interested in rare diseases and orphan drugs operates in Bulgaria.
In 2007, National Alliance of People with Rare Diseases (NAPRD) was established in Bulgaria. The alliance is as a link between people with rare diseases and public health system, aiming to protect the fundamental human right to equal and modern medical care. Currently, there are also about 20 different rare diseases patient associations in Bulgaria.
What to do if there is no patient association for my rare diseases?
If you, your friend or your relative is suffering from a rare disease for which there is no patient organization, ICRDOD and NAPRD can assist you to create one.
What should I do if I am diagnosed with a rare disease?
First, it is necessary to get more information about the disease. You can do this by sending a request to ICRDOD. Its team will send you a personalized response with a description of the disease, prepared by some of the ICRDOD consultants who work to ICRDOD completely voluntary.
Where can I get appropriate medical consultation and treatment?
Diagnosis and treatment of rare diseases in Bulgaria is carried out in the university hospitals (Sofia, Plovdiv, Varna, Pleven, Stara Zagora) and the specialized clinics.
In 2009, Medical Centre “RareDis” was officially opened. It is unique not only in Bulgaria but also in Eastern Europe. A main accent in the centre’s activities is the team work in assuring physical, psychological and social rehabilitation, as well as training parents in providing qualified and adequate daily health care of their children with rare diseases.