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26-02-2025

Very rare diseases – a challenge for the patient and the country: how to help everyone?

Iliustracija

Regardless of the diagnosis, the Compulsory Health Insurance Fund (CHIF) in Lithuania reimburses essential healthcare services, medicines, and medical aids to patients with common, rare, or very rare diseases. According to the data from the Compulsory Health Insurance Fund (CHIF), the number of patients with very rare diseases receiving treatment has been steadily increasing between 2018 and 2024. Last year, the number reached 386 – almost one and a half times more than in 2018. This increase is due to better diagnostics, wider treatment options and increasing funding, which makes it easier for patients to get reimbursed treatment. How treatment for rare and very rare diseases is organized and how patients can get medicines they need?

What are rare and very rare diseases?

According to doctors, most rare diseases emerge at an early age – around 75% start in childhood and as many as 80% are genetic. Some rare diseases do not appear until adulthood, often with unexpected disruptions in a person’s life.

Although each rare disease individually affects only a small proportion of people (5 in 10 000 people may be affected), together they represent a significant public health problem. In the European Union (EU), there are more than 5,000-8,000 rare diseases affecting around 30 million people. This means that rare diseases are not so rare after all – their impact is felt worldwide.
But what if you are diagnosed with a very rare disease? Such conditions are even more complicated, as a very rare condition is defined as a disease that is diagnosed in no more than 1 patient in 200 000 people per year.

How is funding secured?

In Lithuania, reimbursement for treatment of very rare diseases is individualised, i.e. each patient’s situation is considered. Decisions on the financing of such treatment are taken by a special Commission for the reimbursement of treatment costs for very rare conditions. The NHIF coordinates the work of this commission and issues letters of guarantee to medical institutions based on its decisions. These letters guarantee that the patient’s treatment costs will be covered, so that he or she can get the treatment he or she needs without additional financial burden.

As of this year, a patients’ voice has become an important part of the decision-making process for treatment of very rare diseases: following the entry into force of amendments to the Law on Pharmacy, two representatives of patients’ organisations are now also a part of the Commission for the reimbursement of treatment costs for very rare conditions. Together with specialist doctors, they decide on the reimbursement of individual patients’ treatment costs. “This is a significant step to ensure that patients’ experiences and needs are directly represented in important decisions,” Irma Medžiaušaitė, Chair of the Commission for the reimbursement of treatment costs for very rare conditions, Senior Adviser of the Pharmaceuticals Reimbursement Division of the NHIF, says.

When deciding whether to reimburse a medicine, the most important criteria are its benefit for the treatment and its impact on the CHIF. The Commission’s decisions are based on reliable data - information from the Lithuanian and European medicines registers, clinical trials and recommendations from medical specialist societies. This is to ensure that patients have access to the most effective and safest treatments and that the healthcare system remains financially sustainable.

Treatment challenges in Lithuania and in Europe

According to I. Medžiaušaitė, in Lithuania, as in other small countries, diagnosis and treatment of very rare diseases is very challenging. “As these diseases are extremely rare, family doctors may see only a few such patients in their entire practice, and even specialist doctors see people with the same rare disease only a few times a year,” she says. - This means that theoretical knowledge acquired during studies must be constantly updated.”

Advances in health technologies are opening new opportunities for patients, however, it also poses new challenges. Improvements in diagnostics and treatment methods can offer patients more modern, but often very expensive, treatments at specialized centres such as the Centre for Coordination of Rare Diseases at Vilnius University Hospital Santaros Klinikos and the Rare and

Undiagnosed Diseases Coordination Centre at Kaunas Clinics of the Lithuanian University of Health Sciences Hospital. These centres allow patients to receive the care and treatment they need, but more importantly, they ensure that these diseases are recognized.

The main challenge for reimbursement of treatment costs for very rare diseases is extremely high cost of medicines for their treatment. For example, last year, average annual cost of treating a patient with a widespread oncological disease with reimbursable medicines was around EUR 4,700, while average cost of treating a patient with a very rare oncological disease was almost EUR 91,000. The costs are even higher for new patients starting treatment with particularly expensive drugs, with an average annual cost of more than EUR 100,000 per patient. Therefore, one of the main challenges is to make sure that the funds of the CHIF are sufficient for all patients with very rare diseases who need innovative and life-saving treatments.

However, funding for very rare diseases has been steadily increasing, with a fivefold increase in the last seven years. In 2024, over EUR 20 million has been allocated – almost EUR 5 million more than last year. Most of the money goes to continuing extremely expensive treatments that have already been started, and to treating extremely rare cancers or inborn errors of metabolism. 

Funding for the treatment of very rare conditions remains a challenge for Lithuania and for all EU countries, and negotiating prices of medicines is becoming an important strategy to ensure that medicines are affordable, says the representative of the NHIF. Different EU countries are looking for ways to cooperate, to share information on the prices of medicines and to negotiate lower prices with manufacturers in order to make reimbursement for treatment as efficient as possible. “However, these processes can be time-consuming, which makes it harder for patients who need medicines for very rare diseases to access treatment,” I. Medžiaušaitė says. – Solutions are being sought through international cooperation, new price negotiation systems and stronger healthcare policies to ensure that patients get the treatment they need in time.”

What changes are coming?

Good news is that Lithuania is planning important changes in the diagnosis and treatment of rare diseases, creating a clear and effective system for patients. A new order from the Minister of Health is currently being negotiated, which will determine how patients will be referred to centres of competence, the principles of diagnosis and treatment, and long-term monitoring of their condition.

“Progress in this area depends on the development of coherent health policy, innovation and close cooperation between all interested parties,” I. Medžiaušaitė, Chair of the Commission for the reimbursement of treatment costs for very rare conditions, says. – By improving specialist knowledge, diagnostic and treatment options, and by providing regular funding, we are creating a system where every patient gets help he or she need.”

This article is part of the pharmacy literacy campaign “Medicines don't speak” which is run by the NHIF.

The NHIF invites you:

Last updated: 17-03-2025

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