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Rare Disease Day Awareness


According to the National Institutes of Health (NIH), there are about 7,000 known

rare diseases, affecting approximately 400 million people worldwide.

Rare Disease Day is observed on the last day of February each year. The day is dedicated to raising awareness about rare diseases and their impact on individuals and families affected by them. According to the World Health Organization (WHO), a rare disease is defined as a disease that affects fewer than 1 in 2,000 people within the general population. Despite the low prevalence of these diseases, they pose significant challenges to patients, caregivers, and healthcare providers.


80% of rare diseases

are genetic in origin


50% of rare diseases affect children

75% of rare diseases have no approved treatment

While these numbers paint a bleak picture of the rare diseases, it is important to understand that living with a rare disease can be incredibly challenging. Patients with rare diseases often face delays in diagnosis and treatment due to the lack of awareness and knowledge of the condition among healthcare professionals.

Many rare diseases are also chronic and can have a significant impact on a patient's quality of life. Patients may experience a range of physical, emotional, and social challenges, including pain, disability, isolation, and stigmatization. Additionally, treatment for rare diseases can be expensive and difficult to access, further exacerbating the burden on patients and families.

Raising awareness is key to improving the lives of individuals with rare diseases. It is essential to increase public understanding of rare diseases, their impact on patients and families, and the need for continued research and innovation in this topic of matter. Rare Disease Day provides an opportunity to raise awareness and educate the public about these diseases.

Find out how to get involved here:

Rare Disease UK: Rare Disease Day

Rare Disease Day provides an opportunity to raise awareness and support for individuals with rare diseases. By bringing awareness to this topic, we can make a positive difference in the lives of those affected by rare diseases.

The content is intended for educational purposes only and should not be perceived as medical advice. Hereditary rare disease testing, possible next steps and clinical management should always be fully discussed with your healthcare provider.

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