Rare diseases are ones that affect less than 1 out of 2000 people. The cause in most cases is genetic and they are often chronic and life-threatening. Over 50% of those affected are children.
Some conditions are so rare that there are very few individuals suffering from them in the whole country. There are more than 7000 different rare disease. According to World Health Organization data about 400 000 people in Bulgaria are affected by them.
Rare diseases are often chronic and severe. The treatment doesn’t affect the genetic cause but aims at the implications. The therapy is usually supportive but it greatly increases the quality of life and the lifespan. Regular treatment allows many of the patients to study, work and contribute to the society.
Most common problems of people with rare diseases include:
- Lack of access to correct diagnosis
- Delay in diagnosis
- Lack of quality information on the disease
- Lack of scientific knowledge of the disease
- Heavy social consequences for patients
- Lack of appropriate quality healthcare
- Inequities and difficulties in access to treatment and care