Rare disorders and competence centre
Estonian Agrenska Foundation in cooperation with the Estonian Chamber of Disabled People helps to map the information offered to rare disease patients, their relatives and specialists in the field.
Rare disease roundtables take place regularly. Estonian Agrenska Foundation offers supportive social services for patients with rare diseases and their families: family counselling, early intervention therapies and respite care or home-based child care for children with congenital genetic syndromes from early age. We also promote family-to-family support among families with children with similar rare disorders, and try to bring families together.
Estonian Agrenska Foundation participates in cross-border cooperation in Europe.
At European Union level, a rare disease is defined as a disease that affects up to five in every 10,000 people.
Rare diseases are characterized by a very low incidence, but at the same time there are many different rare diseases, which results in a large number of people with rare diseases. It is estimated that there are between 5,000 and 8,000 rare diseases, which affects 6-8% of the total population during their lifetime. In absolute terms, rare diseases affect 27 to 36 million people, thus 70,000 to 100,000 people in Estonia.
Most rare diseases are of genetic origin, but there are also rare forms of tumor diseases, rare diseases with autoimmune genesis. Research has shown the importance of knowledge and understanding of the mechanisms of formation. Unfortunately, there is a lack of research in the field of rare diseases, in addition to the need for activities scattered between different research centers. The lack or inadequacy of specific health policies and the fragmentation of competences often lead to delays in diagnosis, making it difficult to ensure timely treatment or delaying treatment. That affects people psychologically, physically and intellectually, allowing the addition of inappropriate or even false therapeutic effects, although the right and timely treatment of a person’s quality of life will not significantly change. Therefore, ensuring that diagnosis and access to the right treatment are available in a timely manner is of paramount importance to thousands of patients with a rare diagnosis.
Contact person at the Estonian Agrenska Foundation: Dr. Tiina Stelmach, Head of Family Services
Contact person at the Estonian Chamber of Disabled People: Anneli Habicht, CEO Rare Disease Development Plan