International Day of Rare Diseases – why it is important to talk about it?

Rare diseases affect up to 5 in 10,000 (or 1 in 2,000) people. And though the diseases are rare, rare disease patients are numerous. Currently, there are 5,000 to 8,000 different types of rare diseases known and around 27 to 36 million of the population in the European Union is affected.

According to global statistics, there could be about 200 thousand patients with rare diseases in Lithuania.

Why are rare diseases distinguished from others? Because those affected face many additional negative factors.

Rare disease patients are more vulnerable psychologically, socially, economically and culturally. Due to the lack of scientific and medical knowledge, rare disease patients are diagnosed late or not at all.

In addition, such patients face difficulties in accessing or funding appropriate treatment.

Pharmaceutical companies have limited interest in developing new medicines to treat rare diseases. Some conditions are so rare that the expected sale would not cover the investment in developing and marketing the drug. As a result, only 5% of rare diseases have approved treatment.

The state usually funds only a tiny proportion of medicines for treating rare or very rare conditions.

Providing treatment for a patient with a rare disease is an invaluable opportunity. First, however, we must put every effort to ensure that all patients have access to the proper treatment.

“We in Norameda are among the lucky ones. At the moment, we work with two rare diseases by delivering medicine and helping patients access the treatment and doctors to receive all the information needed” – says Sandra Ivanauskiene, founder and leader of the Norameda Special Care Medicine Department.