Rare diseases are defined as those affecting no more than 5 in 10,000 people (or 1 in 2,000). Although these diseases are rare, the number of patients affected by them is relatively high.
Currently, approximately 5,000–8,000 rare diseases are known, affecting as many as 6–8% (27–36 million) of the population in the European Union. Considering global trends, there could be around 200,000 people living with rare diseases in Lithuania.
Patients suffering from rare diseases face significant challenges. They are more vulnerable psychologically, socially, economically, and culturally than patients with common diseases.
Due to the lack of knowledge about rare diseases, as well as the shortage of diagnostic tests, many patients are diagnosed late or remain undiagnosed altogether. However, even after a rare disease or condition has been identified, formal diagnostic difficulties still arise.
In addition, appropriate treatment for such patients may be difficult to access: medicines may either be unavailable or extremely expensive.
Pharmaceutical companies often have little incentive to develop new medicines for the treatment of rare diseases, as some diseases are so uncommon that the expected sales of a medicine intended for their diagnosis, prevention, or treatment would not cover the costs of its development and commercialization.
Perhaps unsurprisingly, only 5% of rare diseases have an approved treatment. Moreover, only a small proportion of medicines intended for the treatment of rare and ultra-rare diseases and conditions are included in the list of reimbursable medicines.
“Ensuring treatment for a patient with a rare disease is an invaluable opportunity. We are among the fortunate ones who can introduce treatment options to Lithuanian patients suffering from not just one, but two rare diseases,” says Sandra Ivanauskienė, Head of the Special Purpose Medicines Division at “Norameda”.
