Rare Disease Day
Text: Anna Pawlowicz Pics: Rare Disease Day FB Page / Anna Pawlowicz
Rare Disease Day, observed annually on the last day of February, is a global platform to raise awareness about rare diseases and the challenges faced by those affected. Established in 2008 by the European Organisation for Rare Diseases (EURORDIS), the day aims to highlight the impact of rare diseases on individuals and families worldwide. The date was chosen because, in leap years, it falls on February 29, the rarest day of the year, symbolising the rarity of these conditions.
Rare Disease Day is celebrated globally through various events, including conferences, fundraisers, and awareness campaigns. These activities engage patients, healthcare professionals, policymakers, and the general public to foster a better understanding of rare diseases and advocate for improved healthcare and support systems. In 2024, over 600 events were held across more than 100 countries, underscoring the widespread commitment to this cause.
To shine a light on Rare Disease Day, here are five surprising facts about rare diseases you probably haven’t heard about:
While individually rare, there are many collectively. There are approximately 10,000 named rare diseases in the world, and they affect approximately 6% of the global population.
Around 80% of rare diseases are caused by changes in a person's genetic code, leading to a wide variety of symptoms that differ not only between diseases but also between individuals with the same disease.
Approximately 50% of patients affected by rare diseases are children, and 30% of these children will not live to see their fifth birthday.
Most rare diseases have no approved drug treatment, highlighting the urgent need for research and development in this area.
On average, it takes about 7 years to receive a correct diagnosis for a rare disease, leading to prolonged periods of uncertainty and often inappropriate treatments.
These facts highlight the critical need for continued research, awareness, and support for individuals and their families affected by rare diseases.
"Queen Mary of Denmark has advocated for individuals affected by rare diseases, leveraging her royal platform to raise awareness and promote research."
Queen Mary of Denmark and her connection to the rare disease community
Queen Mary of Denmark has advocated for individuals affected by rare diseases, leveraging her royal platform to raise awareness and promote research. As the patron of the World Health Organization's Regional Office for Europe, she actively participates in initiatives aimed at improving healthcare outcomes for rare disease patients. On Rare Disease Day 2024, she attended an event in Copenhagen organised by the Danish organisation Sjældne Diagnoser, where she engaged with children living with rare diseases, highlighting the importance of support and understanding.
Beyond her public appearances, Queen Mary has been involved in various health-related patronages, including organisations focused on heart health, stroke research, and mental health support. The WHO Regional Office for Europe notes that her commitment to health issues is evident in her advocacy for maternal and child health, health promotion, and disease prevention.
Join the Rare Disease movement
Visit Rare Disease Day’s website to learn more about the events held globally under this year’s theme, ‘More than you can imagine.’
For information on resources and support available for Danish residents, you can contact the local Rare Disease Network (Sjaeldne Diagnoser) at mail@sjaeldnediagnoser.dk.
If you’re concerned about yourself, your child, or another family member who may be affected by a rare disease, please contact your local family doctor to discuss it. They may refer you to the Center for Rare Diseases at Rigshospitalet, Denmark’s hub for rare disease patients. The centre is led by world-class medical specialists who offer advice, treatment, and support to those affected.
If you have questions about this article, please contact the author, Anna Pawlowicz, at anna@wearehumankind.dk. Anna is the mother of Matias, a 4-year-old boy with a rare disease, and she’s happy to connect with those in the rare disease community in Denmark.