Stanislav Ostapenko
Communications Director at EURORDIS-Rare Diseases Europe
This year’s Rare Disease Day, on 28 February 2025, reminds us that rare diseases are more than you can imagine.
The challenges rare diseases bring are shared: delays in diagnosis, limited treatment options and social stigma.
Why rare is not so rare
On average, it takes four to five years for a person to receive a correct diagnosis.1 For many, those years are filled with uncertainty and missed opportunities for effective care. In the UK, families face these realities daily.
Rare diseases don’t just affect individuals; they reshape the lives of parents, siblings and caregivers. The impact extends beyond health, influencing education, employment and social inclusion. Imagine a child unable to attend school because of a lack of accessible resources or a parent forced to leave work to navigate complex care systems. For millions, this is the reality of rare diseases.
The impact extends beyond
health, influencing education,
employment and social inclusion.
Why we need more than you can imagine
This year, as part of the global campaign, we spotlight four families from across the world to reveal the shared challenges of rare diseases:
- Radost, 16, from Bulgaria, was diagnosed with metastatic Ewing Sarcoma after months of uncertainty. Intensive treatments in Turkey have been life-saving, emphasising the need for specialised care.
- Ava, 7, from Australia was diagnosed with Maple Syrup Urine Disease through newborn screening at just 16 days old. Her story highlights the importance of accessible diagnostic tools.
- Charo, 11, from Argentina, is the first in Latin America diagnosed with Syngap1, a rare neurological condition. Her journey underscores the need for greater awareness in underserved regions.
- Manzi and Solange’s son, Algas, 20, from Rwanda, was diagnosed with Williams syndrome, a rare genetic condition. After four heart surgeries, his story showcases the critical need for research and breakthroughs.
These stories remind us that rare diseases are not rare at all — they are part of a shared human experience.
Take action
Rare Disease Day calls on all of us to do more than we can imagine. Whether it’s spreading awareness, supporting research or advocating for policy change, every action counts. Together, we can create a world where people with rare diseases and their families have the opportunities they deserve.
For more information, visit RareDiseaseDay.org.
[1] Faye, F., et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet 32, 1116–1126 (2024). https://doi.org/10.1038/s41431-024-01604-z.
