Lack of knowledge makes rare diseases expensive to treat while increasing human suffering

When speaking about the health of the population, the focus is usually on common diseases. About half of Finland’s adult population have elevated blood pressure and high cholesterol, which increase the risk of cardiovascular disease. Most adults are also overweight, which exposes them to type 2 diabetes. An estimated one million Finns take medication to reduce blood pressure and more than 700,000 take cholesterol-lowering drugs. At least 400,000 Finns suffer from type 2 diabetes.

Rare diseases are the opposite of common diseases. A disease is classified as rare when it affects fewer than one in 2,000 people, but many diseases are much rarer than that. About 6,000-8,000 rare diseases exist, covering all fields of medicine. Altogether, they affect 6-8 percent of the population. Specific treatments exist for only a small portion of the diseases, and treatments to fix gene defects are only in the research phase.

From challenges of posed by rare diseases to EU-level solutions

Although the individual ailments are rare, it is estimated that more than 300,000 Finns suffer from rare diseases. The group of illnesses includes many hereditary diseases and syndromes. However, many diseases that are relatively common, such as ovarian cancer, are included among rare diseases. In addition, as the mechanisms of illness become more specified, increasing numbers of ailments such as cancers and degenerative neurological diseases are being divided into subtypes which are rare by themselves.

Rare diseases are expensive to treat. According to register data from the Finnish Institute for Health and Welfare (THL), up to 15% of the university hospital expenditure is linked with the treatment of patients with rare diseases. This estimate does not include rare cancers. Orphan drugs are also expensive, and the annual cost of treating a single patient can be in the hundreds of thousands of euros. The hidden costs are probably much greater than when a patient’s rare disease cannot be identified, and the symptoms cannot be treated.

The greatest challenge in the treatment of rare diseases is a lack of knowledge. The specific disease involved is often not suspected, and the patient does not get access to appropriate diagnostics and treatment. Even if a diagnosis is finally made, patients often cannot find information on their disease, or peer support in their own language. All of this adds to both human suffering and costs. The EU has woken up to the problems of rare diseases. Projects funded by the European Commission, such as Orphanet, a database for rare diseases, and the collaborative networks (ERN, European Reference Network) aim at improving and standardising diagnostics and treatment in member states. Finland participates in the activities of Orphanet and all 24 ERN networks include at least one Finnish centre of excellence specialised in rare diseases.

THL coordinates field of rare diseases

The Ministry of Social Affairs and Health has published a national programme for rare diseases. Its goals are to increase knowledge and skills in rare diseases and to boost the participation of patients with rare diseases. Knowledge, diagnostics, and prevention of rare diseases is concentrated on our country’s five university hospitals. Their activities are coordinated by their units for rare diseases.

There are great challenges facing sufferers of rare diseases in inclusivity, coping with everyday life, and equal access to services. One of the most important goals for the national programme is the national coordination of rare diseases. THL coordinates national activities with the support of the European Union Committee of Experts on Rare Diseases. It includes representatives of officials, professionals in the field, and patients’ organisations. The goal of the coordination is to increase information on rare diseases and to develop the service system.

Finland’s health and social services system is on the threshold of unprecedented structural change. It is extremely important to consider those with rare diseases when the reforms are implemented. The aim is to make it easier to identify patients with rare diseases in the future and to help the wellbeing services counties respond to their individual needs regardless of their places of residence. Could the efficient flow of this challenging group of patients who often suffer from multiple problems be one of the gauges of the success of the wellbeing services counties?

The article is part of the Disability in Society blog series

The Disability in Society blog series deals with phenomena connected with disability and services for persons with disabilities in our society. The concept of disability has changed with time. Issues that are important today include human rights, participation, self-determination, access, and accessibility.

Further reading:

Health Village rare diseases pages (terveyskylä.fi)

Orphanet (orpha.net)

European Reference Networks (in Finnish)

National programme for rare diseases (in Finnish)

The Finnish Network for Rare Diseases for social and health care organisations (harvinaiset.fi)

HARSO umbrella organisation for patient associations supporting people with rare diseases and debilitating conditions (harso.fi)

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