Every year the last day of February is devoted to raise awareness on rare diseases, with the aim to educate and highlight the impact of rare diseases, which are usually classified as affecting less than 1 in 2000 of the population.

Quick statistics: 

• Approximately 300 million people worldwide are rare disease patients
• This equals out to approximately 3.5% to 3.9% of the population,  
• Approximately 30 million people in Europe live with a rare disease diagnosis; this is estimated to be 1 in 17 people
• 72% of these rare diseases are genetic
• It takes on average five years for rare disease patients to be diagnosed. 

Rare Disease Day highlights some of the unique and specific challenges experienced by rare disease patients, which can often, at times be overlooked. In Bulgaria, around 450,000 people, roughly 7% of the population, are affected by rare diseases. Between 6,000 and 8,000 rare diseases are currently known, of which around 70% are genetic. More than 40% of people in Bulgaria showing symptoms of a rare disease have still not been officially diagnosed.

Discussing rare diseases and their symptoms is incredibly important. Rare Disease Day events provide a platform to sum up the actions that can be taken to raise awareness and push for research.

Some of the key recommendations are: 

• Faster, more accurate diagnosis
• Person-centred care
• Partnerships with patients
• Accessible and affordable treatments
• Innovative and needs-led research and development 

The approach listed above is very much in line with Jade Health’s mission promoting equity in health, social, cultural, and ethnic diversity, and improve comprehensive disease care, including enhancing health literacy among high-risk populations. The Bulgarian Jade Health project team was really pleased to be invited to the discussion forum on the 27th of February, organised in the framework of Rare Disease Day 2026 commemorations in Sofia. 

Ivo Popivanov, Assitant Professor from the Bulgarian Society of Dementia (BSD) held a presentation slot dedicated to JADE Health. He explained the main aims of the project and gave an overview of its technical work packages, and the progress achieved during the first year of the Joint Action. 

Around 70 people participated in the event, among them representatives of different national associations, health specialists, government officials of various institutions and NGO-s (e.g.:Expert Center for Fabry Disease, National Alliance of People with Rare Diseases, Expert Center for Pemphigus Vulgaris), as well as patients and their family members, staff from the Medical University – Sofia, and delegates from the National Health Insurance Fund of Bulgaria. 

The discussion focused on analysing and shaping the priorities regarding rare diseases at national level in Bulgaria, and outlined the current state of rare diseases on a global scale. 

To find out more about rare diseases visit Rare Disease Day website.