Rare Disease Day 2020: Why we want to show our support

Now in its 12^th year, Rare Disease Day will be celebrated globally on February 29 2020. Here we explain why we want to get involved, and how you can show your support!

Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness amongst the general public and decision-makers about rare diseases and the impact they have on the lives of patients and their families.

Despite being labelled ‘rare’, there are over 300 million people living with one or more of over 6,000 identified rare diseases around the world.

70% of the genetic rare diseases start in childhood, with one example being dyskeratosis congenita (DC). DC is a telomere biology disorder that is estimated to affect 1 in a million people.

Through our work in telomere length testing (which is used to help diagnose DC), and joint projects with our advocacy partners Team Telomere, we understand the importance of raising awareness and showing support for those affected by these rare conditions.

How to get involved with Rare Disease Day

This year, we have registered as a Friend of Rare Disease Day and we will be raising awareness and showing our support on our RepeatDx Facebook and Twitter accounts. Follow us to make sure you don’t miss anything!

Every year, thousands of events are organized around the world during February to mark the occasion and raise awareness. Patient organizations, healthcare professionals, researchers and policymakers organize events. To learn more, and discover ways you can get involved, take a look at the Rare Disease Day website.

If you want to find out more about DC and telomere length testing, have a read of our blog.

Sources

Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics (2019). doi:10.1038/s41431-019-0508-0.