The last day of February is a special occasion dedicated to raising awareness about rare diseases. Rare Disease Day aims to shine a light on these conditions and to advocate for improved access to treatment and care for the millions of individuals and families affected by these diseases.
In the European Union, a rare disease is defined as one that affects fewer than 5 out of every 10,000 people in the general population. However, the term “rare” goes beyond a medical definition; it embodies a lived experience filled with constant challenges, sacrifices, and the extraordinary strength that comes from being part of a supportive community.
Globally, over 300 million people are affected by more than 6,000 rare diseases, with approximately 95% of these conditions having no approved treatment. Rare diseases can significantly reshape childhood, family dynamics, and daily lives. The average time to receive a diagnosis is 4 to 5 years, and in many cases, it takes even longer. Following a rare disease diagnosis, patients and their families often feel overwhelmed, isolated, and lonely. Advancing knowledge, training healthcare professionals, and investing in innovation are essential steps to ensure earlier diagnoses, better care pathways, and improved quality of life for people living with rare conditions.
European Reference Networks were established in 2017 by the European Commission with the aim of tackling rare, low prevalence and complex diseases and conditions by bringing together European hospital centres of expertise. This year on the occasion of Rare Disease Day, DG SANTE has published the following informative materials about the ERNs.
- ERNs brochure 2026: European Reference Networks. Working with patients with rare and low-prevalence and complex diseases
- ERNs booklet 2025: European Reference Networks: A success story for patients living with a rare disease
- Rare disease factsheet 2026: How the European Commission works on Rare Diseases and the European Reference Networks (ERNs)
- Rare disease factsheet 2026: EU delivering on rare diseases for patients and families
Moreover, in honour of Rare Disease Day 2026, MetabERN has invited partner patient organisations, representing a diverse range of rare metabolic conditions, to share their unique perspectives and reflections using three words in response to the thought-provoking question “What is rare in rare?”. All answers can be found on the patients’ voices page.
Further initiatives included the organisation of a webinar “Smith-Lemli-Opitz syndrome from a holistic family perspective” in collaboration with healthcare professionals and patient representatives. The recording of the webinar is now available. Additionally, in collaboration with the JARDIN – Joint Action, two stories of two patients, members of our partner organisation Krikos Zois, were published. Read Eirini’s and Konstantino’s stories.
Raising awareness on Rare Diseases is crucial to enhance public understanding about the challenges faced by patients and families. Although the incidence of a single rare condition is low, the global incidence of all rare disease taken together is high. Leading to the key message of this year’s Rare Disease Day awareness campaign – “More than you can imagine!“
Together, we stand in solidarity with patients and families as they navigate their journeys, dream of brighter futures, and advocate for improved care and understanding. Our collective efforts aim to ensure that the realities of living with rare diseases are fully recognised and addressed.
