A Global Call to Action for the 300 Million People Living with a Rare Disease
28 February 2025 – The 18th edition of Rare Disease Day unites over 70 national partners across 100 countries to raise awareness and drive policy change for the estimated 300 million people living with a rare disease worldwide. Coordinated by EURORDIS-Rare Diseases Europe, this campaign ensures that rare diseases remain a global priority, mobilising patient communities, researchers, policymakers, healthcare professionals, and industry leaders.
Guided by a Global Coalition
Rare Disease Day is shaped by a Steering Committee composed of leading patient organisations dedicated to transforming the landscape of rare disease care and support. The committee works alongside an Outreach Group, which includes key members from some of the largest Rare Disease Day national partners, to implement the campaign at regional and local levels.
Steering Committee Members:
- Advocacy Service for Rare and Intractable Diseases (Japan)
- Allianz Chronischer Seltener Erkrankungen e.V. (Germany)
- EURORDIS-Rare Diseases Europe (Europe)
- Federación Argentina de Enfermedades Poco Frecuentes (Argentina)
- Malaysian Rare Disorders Society (Malaysia)
- Rare Diseases International (International)
- Rare Disorders Kenya (Kenya)
- Rare Voices Australia (Australia)
- UNIAMO – Rare Diseases Italy (Italy)
Outreach Group Representatives:
- Alexandra Heumber (Rare Diseases International, Switzerland)
- Bianca Paslak-Leptien (Allianz Chronischer Seltener Erkrankungen e.V., Germany)
- Celia Palacios Gomez Tagle (Federación Mexicana de Enfermedades Raras, Mexico)
- Cheryl Herbert (NORD – National Organization for Rare Disorders, United States)
- Debra Bellon (Rare Diseases International, France)
- Elena Mora (FEDER – Federación Española de Enfermedades Raras, Spain)
- Eliana Sepulveda (Federación Colombiana De Enfermedades Raras, Colombia)
- Ida Mirković Knaus (Rare Diseases Croatia, Croatia)
- Jennifer (Jen) Barley (Genetic Alliance UK, United Kingdom)
- Julie Schmidt Hansen (Rare Diseases Denmark (Sjaeldne Diagnoser), Denmark)
- Lidiya Vitanova (Together Fighting Sarcoma, Bulgaria)
- Luciana Escati Peñaloza (Fundación Mas Vida, Argentina)
- Marie Rose Okoma (Association Aux Pas du Coeur, Ivory Coast)
- Mariella Agius (National Alliance For Rare Diseases Support – Malta, Malta)
- Mathilde Lebrun (Alliance Maladies Rares, France)
- Matthew Hamer (Genetic Alliance UK, United Kingdom)
- Nadiah Hanim Abdul Latif (Malaysian Rare Disorders Society, Malaysia)
- Orly Dror-Azuriel (Coalition of Rare Diseases in Israel, Israel)
- Rebeca Simón (FEDER – Federación Española de Enfermedades Raras, Spain)
- Roberta Anido De Pena (Federación Argentina de Enfermedades Poco Frecuentes, Argentina)
- Rosely Maria (Instituto Vidas Raras, Brazil)
- Roselyn Kanja (Rare Disorders Kenya, Kenya)
- Roshni Rana (Child & Youth Care, Zimbabwe)
- Sara Bajlo (Rare Diseases Croatia, Croatia)
- Sarah Cannata (Rare Voices Australia, Australia)
- Sarah Weiler (ALAN – Maladies Rares Luxembourg, Luxembourg)
- Simona Bellagambi (UNIAMO – Rare Diseases Italy, Italy)
- Stanislav Ostapenko (EURORDIS, France)
- Syafiq Zulkarnain (Acting as an individual, Malaysia)
- Trudy Nyakambangwe (Child & Youth Care, Zimbabwe)
- Ulrike Holzer (Ectodermal Dysplasias International Network, Austria)
- Valérie Foulon (Alliance Maladies Rares, France)
- Victoria (Vicky) Antoniadou (Cyprus Alliance for Rare Disorders, Cyprus)
- Virginie Bros-Facer (EURORDIS, France)
- Yaser Davoudian (Rare Disease Foundation of Iran, Iran)
- Yukiko Kuroda Nishimura (Advocacy Service for Rare and Intractable Diseases, Japan)
Rare Diseases: A Widespread Yet Overlooked Challenge
Rare diseases may seem distant, but they are more prevalent than commonly perceived. 5% of the global population is affected at some point in their lifetime. These conditions impact families, workplaces, and entire communities, bringing complex medical, social, and economic challenges.
Key issues include:
- Delayed Diagnoses: Patients often wait four years or longer for an accurate diagnosis, enduring uncertainty and missed treatment opportunities.
- Limited Treatment Options: Over 95% of rare diseases lack approved therapies, leaving patients with few medical solutions.
- Social and Economic Barriers: Families often face educational, employment, and financial difficulties, as care responsibilities disrupt daily life.
- Healthcare Access Inequalities: In many regions, rare disease patients encounter barriers to accessing specialised care, particularly in underserved communities.
To illustrate these challenges, the campaign highlights the experiences of four families across the world. Their stories – spanning conditions such as Ewing Sarcoma, Maple Syrup Urine Disease, Syngap1, and Williams Syndrome – reflect shared issues: the emotional toll of uncertainty, the difficulty of accessing care, and the resilience required to advocate for a better future. Their journeys highlight the urgent need for increased awareness, policy change, and community support. Watch the campaign’s video
How to Get Involved
Rare Disease Day is a call to action. Individuals, organisations, and institutions can participate by:
- Raising Awareness: Share stories and key facts using official campaign materials and hashtags.
- Engaging with Communities: Host or attend awareness walks, webinars, and fundraising events.
- Educating the Public: Provide resources to schools, workplaces, and public institutions.
- Advocating for Policy Change: Urge decision-makers to improve healthcare access and patient support.
- Supporting Research and Care Initiatives: Donate to rare disease organisations and advocate for greater funding.
- Showing Solidarity: Light up buildings in Rare Disease Day colours, wear campaign-themed merchandise, or participate in virtual events.
Building an Inclusive Future for Rare Disease Patients
Rare Disease Day is more than an awareness event – it is a movement toward a future where people with rare diseases receive equitable access to healthcare, research, and social support. Through global collaboration, advocacy, and action, we can create meaningful change for millions worldwide.
For more information, visit RareDiseaseDay.org.