What is a rare disease?
Rare Diseases (RD) can generally be defined as pathological conditions with low incidence and prevalence. The term “rare” is very relative. Although each rare disease occurs in very small proportion of the population of a country, if they are aggregated as a whole, because of the large number of nosological units (over 6000), rare diseases are becoming an important public health problem of any health system.
According to the definition of the Work Group on rare diseases to the European Union, a disease is considered “rare” if it affects no more than one in 2 000 persons.
How many people suffering from rare diseases in Bulgaria?
Based on current scientific knowledge, between 5 000 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 2004), 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.
What about rare diseases in Bulgaria?
On 27 November 2008, the Council of Ministers adopted with an official decision the National Program for rare diseases – genetic diseases, congenital malformations and nonhereditary diseases (2009-2013), which aims to create clear and adequate health policies for rare diseases in Bulgaria.
National Program for Rare Diseases has been prepared in accordance with European and National health strategies. The combination of the principles of solidarity and equal opportunities for health with innovations and technological progress plays key role in the development of the European Community.
Currently, treatment of patients with rare diseases is provided mainly by the Ministry of Health Regulation № 34 on the order of payment from the state budget on the treatment of diseases of the Bulgarian citizens, outside the scope of the compulsory health insurance. National Health Insurance Fund also participates in the treatment of rare diseases through some treatment programs (eg multiple sclerosis, hiperammoniemia).
Conducting therapy with expensive medicines is a livelihood for some, to others it gives a chance to have a better quality of life, better education and social integration. However, there are several unresolved problems such as ensuring access to new therapies for rare diseases, treatment of adult patients with rare diseases, ensuring optimal dosage and quantity of expensive drugs, determination of disability and social rehabilitation.
What is an orphan drug?
This is a drug product which:
· is intended to diagnose, prevent or treat life-threatening or progressive chronic diseases that affect not more than 5 per 10 000 people throughout the country;
· is intended to diagnose, prevent or treat life-threatening diseases and seriously impairing chronic health conditions (diseases causing high incapacity and disability) and are attached evidence that the sale of the product does not provide a satisfactory return to justify necessary investment in research and development, without incentives for the originator of the product;
· when there is no satisfactory method of diagnosis, prevention or treatment of the condition, or if there is such a method, the proposed product has significantly more advantages than it and benefit to those affected by this condition.
Where people with rare diseases can receive support?
In many European countries with developed civil societies, such as France, Italy, Belgium, Spain, Netherlands and others, 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 only Eastern educational and information service dedicated to patients, medical professionals and associations, interested in rare diseases and orphan drugs operates in Bulgaria. ICRDOD is a project of the Bulgarian Association for Promotion of Education and Science – non-profit organization, registered in 2003
The center is located at the St. George University Hospital’s complex in Plovdiv and is fully provided with modern equipment and conditions for conducting workshops. The main functions of ICRDOD are providing completely free information about rare disorders, clinics, laboratories in Europe and the world, making contacts among leading specialists, treating physicians and patients, creating and maintaining a multilingual website with information and educational purposes (www. raredis.org), organizing workshops and conferences, establishing contacts with scientific and patient organizations from Bulgaria and Europe. Any medical or health information, offered by ICRDOD (www.raredis.org), is prepared by highly qualified medical professionals. The information is provided to supplement and not to replace the existing relationships between patients and their personal physician.
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 about 20 different rare diseases patient associations in Bulgaria, more information can be found here – http://www.raredis.org/modules/sections/index.php?op=listarticles&secid=6.
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, 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. Medical Centre “RareDis” is substantial national and regional importance and is expected to become an innovative model for integrative multidisciplinary approach to rare diseases.
Useful information*
FAQ on Clinical Trials (English, PDF format, size 620 KB)
FAQ on Personalised Healthcare (English, PDF format, size 1.13 MB)
Some Information About Your Genetic Appointment (English, PDF format, size 534 KB)
Genetic Glossary (English, PDF format, size 319 KB)
Frequently Asked Questions (English, PDF format, size 488 KB)
What is a Genetic Test? (English, PDF format, size 904 KB)
Chorionic Villus Sampling (CVS) Test (English, PDF format, size 566 KB)
Amniocentesis Test (English, PDF format, size 677 KB)
Chromosome Changes (English, PDF format, size 1.24 MB)
Chromosome Translocations (English, PDF format, size 1.38 MB)
Recessive Inheritance (English, PDF format, size 910 KB)
Dominant Inheritance (English, PDF format, size 1.08 MB)
X Linked Inheritance (English, PDF format, size 1.67 MB)
*Please note that some of the PDF files below are large (1MB) and may take a while to download. If you have problems opening the file, please right click the link and choose the option ‘save as’ to save the file on your computer. You can then open it from there with Adobe Reader.
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Last modification: 11:06 2.12.2009
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