Rare Disease Day 2024

Written by Clare Ferguson with Sara Van Tooren.

Little known and often misdiagnosed, rare diseases affect around 30 million people in the EU. Together with over 65 partner organisations, EURORDIS coordinates Rare Disease Day every 29 February (or on 28 February in non-leap years) – the rarest day on the calendar. The day raises awareness of rare diseases and advocates for people living with them, with the long-term goal of achieving equal access to diagnosis and therapy. Because cooperation is crucial to achieving this, the EU can play an important role by setting up programmes, networks and platforms to help experts, researchers and clinicians share their knowledge and experiences.

What is a ‘rare disease’?

Around 300 million people worldwide live with a rare disease, 30 million of whom live in the EU.

A disease is rare when it affects fewer than 1 in 2 000 people, while an ultra-rare disease affects fewer than 1 in 50 000 people. Some 72 % of rare diseases have a genetic origin, and 70 % already start during childhood.

Over 6 000 rare diseases exist, and only around 1 000 have been scientifically explored. Most are incurable, and are often called ‘orphan diseases’. Treatment is available for only around 5 % of rare diseases.

On average, rare disease patients have to wait five years for a diagnosis.

Because there is often little scientific knowledge about rare diseases, diagnoses come late and initial misdiagnoses are common. Moreover, specific treatments are often unavailable, or not easily accessible to patients. Patients have little information about their disease and their rights, and can suffer from a high level of psychological, social and economic vulnerability. They can feel a lack of or loss of autonomy, as the disease also affects their socio-economic status, family, education and work.

What does the European Parliament say?

The European Parliament has repeatedly emphasised the importance of research on rare diseases and medicine development.

In its resolution of 24 November 2021 on the EU’s pharmaceutical strategy, Parliament emphasised the importance of research into and development of medicines for unmet needs. It referred specifically to cancers, including paediatric cancers, rare diseases, neurodegenerative and mental illnesses and antimicrobial resistance. It also urged the creation of an EU framework to help national governments implement plans to combat these illnesses. To end the situation where people in some EU countries can access medicines when others cannot, Parliament called on the Commission to consider policy options that would guarantee access to medicines in all Member States following the granting of EU-level authorisation.

In a 10 July 2020 resolution, Parliament called for an EU action plan on rare and neglected diseases in the context of a post‑pandemic public health strategy, a request reiterated in Members’ parliamentary questions.

How is the EU fighting rare disease?

Because misdiagnoses and lack of scientific knowledge are common issues with rare diseases, cooperation is very important. The EU has been working on a European Health Data Space to improve individuals’ access to and control of their electronic personal data, while also facilitating the re-use of medical data across the EU where that has benefits for society. Better access to an EU-wide pool of data could help medical staff to diagnose rare diseases earlier, especially since symptoms can differ from patient to patient and from disease to disease.

The European Joint Programme on Rare Diseases, launched in 2019, aims to develop an effective rare diseases research ecosystem to improve coordination across the EU to tackle the issues of delayed diagnoses, lack of medicines and reduced access to care. The EU adopted the Orphan Regulation on rare diseases in 2000, and adopted the Paediatric Regulation on medicines for children in 2006. These laws introduced obligations, incentives and rewards to stimulate the development of new medicines. The EU also launched a revision of its pharmaceutical legislation in 2023, to make medicines more available, accessible and affordable, while supporting the EU pharmaceutical industry in its research efforts, and setting higher environmental standards.

The EU also contributes to research coordination through European Reference Networks (ERNs). The ERNs are virtual networks gathering together healthcare providers across Europe to work on complex or rare diseases and conditions that require highly specialised treatment, and concentrated knowledge and resources.

The EU also supports platforms such as Orphanet and the European Platform on Rare Diseases Registries, which hold data on rare diseases and collect rare disease resources, including for refugees or displaced persons.

For its part, EURORDIS – Rare Diseases Europe is a non-profit organisation consisting of over 1 000 rare disease patient organisations from 74 countries, working to improve the lives of people living with a rare disease. It focuses on improving diagnoses, promoting research, increasing access to holistic care and making treatments more available, accessible and affordable.