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

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.

The Chiesi Group chooses Norameda

The Chiesi Group chooses Norameda

Leber’s Hereditary Optic Neuropathy (LHON) – a devastating diagnosis. It is a heritable genetic disease causing profound vision loss and blindness. Unfortunately, there is no cure. And ways of treatment are limited.

The disease presents predominantly in young, otherwise healthy adult males as rapid, painless loss of central vision, usually leading to permanent bilateral blindness within a few months of the onset of symptoms.

This genetic disease affects one in 50,000 people. 50% of males with the LHON mutation and 85% of females never experience vision loss.

Most cases of LHON are permanent. Around 95% of people with this disease may lose their vision before turning 50.

For now, there is no cure. Some are experimenting with gene therapy or stem cell transplantation. However, recently a medicament to mitigate the symptoms and improve vision has been developed. In most cases, this is the only hope patient have.

At the beginning of 2022, the Chiesi Group chose Norameda as the distributor of this life-changing medicine in Lithuania.

On average, we have about two new patients diagnosed with LHON in Lithuania every year. 4 patients are currently receiving treatment with this medicine.

“This is just the beginning of a new journey – says Sandra Ivanauskiene, Head of the Norameda Special Care Medicine Department. – LHON affects not only the patient’s physical abilities. Changes in everyday life are enormous. So our goal is not only to provide medicine for the LHON patients. Even more important is to give faith for both doctors and patients.”