Blog post by Stanislav Ostapenko, Director of Communications at EURORDIS-Rare Diseases Europe.
On 28 February 2025, the world will observe Rare Disease Day, a global movement advocating for equity in diagnosis, treatment, research, and social participation. Coordinated by EURORDIS-Rare Diseases Europe and led by over 70 national partners, the campaign unites people with rare diseases and their families, healthcare and social support professionals, researchers, policymakers, and the general public across more than 100 countries. This year’s theme, “More Than You Can Imagine,” highlights how living with a rare disease impacts lives in ways that often go unseen.
Rare diseases are closer than you think
There are 30 million people living with a rare disease in Europe, and 300 million worldwide. But while each rare condition is uncommon, affecting fewer than 1 in 2,000 people, there are over 6,000 rare diseases. That means someone you know – a friend, colleague, or neighbour – could be living with one.
More challenges than you can imagine
People living with rare diseases often face barriers to diagnosis, care, treatment, and daily life:
- Diagnosis takes years: On average, it takes four to five years to receive an accurate diagnosis. Many people endure misdiagnoses, unnecessary treatments, and uncertainty along the way.
- Limited treatment options: Most rare diseases have no cure, and available treatments focus on managing symptoms rather than addressing the underlying cause.
- Unequal access to care: Specialist doctors and healthcare centres are not available everywhere, forcing many people to travel long distances or even move to another country to obtain care and treatment.
- Financial and social barriers: The high cost of care, medical equipment, and travel puts financial pressure on people with rare diseases and their families. In addition, they are not provided with adequate social and independent living support, which results in limited social participation, social isolation and lack of understanding from their communities.
Stories that highlight the reality
Rare Disease Day amplifies the voices of people whose daily experiences often go unnoticed. As part of this year’s campaign, we feature four families from across the globe to illustrate the challenges people face and the impact on their daily lives, no matter where they live.
- Radost (Bulgaria): At 16, Radost was diagnosed with metastatic Ewing Sarcoma, a rare bone cancer. Before that, her symptoms were dismissed, delaying treatment. Her family had to move to Turkey for specialised care, leaving behind their home and school.
- Ava (Australia): Diagnosed with Maple Syrup Urine Disease at 16 days old, Ava requires strict dietary management to prevent serious complications. Her family constantly monitors her health and explains to others why even a small dietary mistake can be dangerous.
- Charo (Argentina): Living with Syngap1, a rare neurological condition, Charo spent years without a diagnosis. When her parents finally had an answer, they realised there were no local medical resources or support networks. They created the Syngap1 Foundation in Argentina to help other families in the same situation.
- Algas (Rwanda): Born with Williams syndrome, Algas has undergone multiple heart surgeries. Seeing how difficult it was to access medical care, his father started a support centre for other families navigating life with a rare disease.
These stories also show that living with a rare disease shapes lives in ways many never see – impacting health, education, employment of both the person and their family.
More actions than you can imagine
You can make a difference on Rare Disease Day by:
- Raising awareness: Share stories and information on social media using our downloadable materials.
- Participating in events: Join local awareness campaigns, walks, or webinars through our dedicated events page.
- Advocating for change: Contact policymakers to push for better policies using our Equity Toolkit.
- Showing solidarity: Wear campaign colours or light up buildings in solidarity with those living with a rare disease.
There are millions of people with rare diseases. By learning, supporting, and advocating, we can create a world where each of them is well supported and living their full lives. To get involved, visit RareDiseaseDay.org.