As Rare Disease Day approaches on Friday 28th February, we wanted to take this opportunity to highlight the significance of this day, and signpost to some ways you can show your support and get involved.
It’s often said of rare diseases that they are individually rare, but collectively common. Whilst some conditions are ultra rare, affecting just a few hundred people worldwide, others, such as Sickle Cell, Cystic Fibrosis and Haemophilia are much more common than their ‘rare’ tag suggests, affecting between 2000-2500 births in the UK each year.
Over 3.5 million people in the UK have a rare condition, with the majority (nearly 70%) present from childhood. Regrettably, over a third of people wait more than 5 years for a diagnosis, with the average rare disease patient consulting with 5 doctors and receiving 3 misdiagnoses whilst on this ‘diagnostic odyssey’. You can read some patient stories and experiences here (opens in a new tab) and here (opens in a new tab).
This Rare Disease Day there are some things you can do to show your support for the Rare Disease community.
#ShowYourStripes
Rare Disease charity Medics For Rare Disease will be running their annual #ShowYourStripes campaign. Simply wear stripey socks and post a selfie on Instagram (opens in a new tab) or LinkedIn (opens in a new tab) with the hashtag #ShowYourStripes and tag @MedicsForRare. If you’re not on social media, you can email your pictures to hello@m4rd.org. You can even order socks here (opens in a new tab)!
‘More than you can imagine’
Genetic Alliance UK will publish ‘More than you can imagine: an anthology of rare experiences’ online for Rare Disease Day 2025 - a digital anthology of experiences from the genetic, rare and undiagnosed communities through poetry, stories, photos and drawings. You can download Genetic Alliance UK assets (opens in a new tab) for use on social media, and share Genetic Alliance UK social media posts on Twitter/X (opens in a new tab), Facebook (opens in a new tab) and Instagram (opens in a new tab) using the hashtags #RareDiseaseDay and #MoreThanYouCanImagine
RDD events and webinars
- 25 Feb, 7pm: Rare Disease 101 webinar, M4RD (opens in a new tab)
- 27 Feb, 4pm: Advancing Rare Disease Knowledge Through Global Collaboration (opens in a new tab)
- 28 Feb, 12pm: More Than You Can Imagine: Genomics and Rare Disease (opens in a new tab)
- 6 Mar, 10am: Rare Disease Day 2025 Joint Nation Online Event (Genetics Alliance UK) (opens in a new tab)
Education, training and support
In our region NHS East Genomics deliver genomic testing, and support testing referral and pathway and workforce development. You can find your local Clinical Genetics Service, contact the East Genomic Laboratory Hub, find out more about requesting genomic tests for your patients, join a Genomics Community of Practice or contact the team here.
The national Genomics Education Programme have a range of courses and resources on rare diseases. Their Rare Disease Education Hub (opens in a new tab) is a great place to start.