This year Rare Disease Day - an annual international day to raise awareness of rare diseases and conditions - is itself even more rare as it falls on 29 February this leap year!
Rare Disease Day is a global movement working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.
Why have a day?
Approximately 3.5 million people in the UK live with a rare condition. Rare diseases are individually rare but collectively common.
People impacted by rare conditions face similar challenges because of a lack of awareness about rare disease. They commonly report that they want to feel listened to and believed by healthcare professionals and involved in their care.
This is where you can help. Show you care and help spread awareness this Rare Disease Day.
Watch: Medics4RareDiseases CEO Lucy McKay talk about Rare Disease Day 2024 and how you can get involved
Link: https://www.youtube.com/watch?v=05EOXcFzVvY
Watch the Rare Disease Day 2024 video
Link: https://youtu.be/zEQ828Lkxac?si=yeH0D01AtMrOOV-z
Get involved - share your colours
You can show your support by:
- Sharing your colours via social media (opens in a new tab)
- Staging (opens in a new tab) or attending (opens in a new tab) events
- Illuminating buildings (opens in a new tab), monuments and homes
- Sharing your story online (opens in a new tab) and with friends
You can keep up with activities and events, and post your own, throughout February by using the #RareDiseaseDay hashtag and following the Rare Disease Day profiles on Facebook (opens in a new tab), Twitter (opens in a new tab), LinkedIn (opens in a new tab) and Instagram (opens in a new tab).
What's happening in our region?
Below we've included a round up of some of the events and activities planned for Rare Disease Day 2024 across the East Midlands and East of England.
NHS East Genomics coming to a Trust near you!
On Thursday 29 February we will have information stands at the below Trust sites across our region. We'll have friendly colleagues on hand to have a chat about genomics, plus take-aways and freebies!
- Cambridge University Hospitals: East Genomics will be at Addenbrooke's Hospital, in the main concourse, from 12.30pm - 2pm. CAMRare (opens in a new tab) will be at CUH Outpatients from 10am - 1pm and on Level 6 our Scientific Training Programme team will have a stand with treats and a quiz.
- Norfolk and Norwich University Hospitals: East Genomics will be in the East Atrium, Level 1, from 10am - 2pm
- Nottingham University Hospitals: East Genomics will be at the QMC main entrance on B Floor, from 10am - 2pm
- University Hospitals of Leicester: East Genomics will be in the LRI restaurant from 10am - 2pm
Webinars and events
Cambridge Biomedical Research Centre Public Webinar: Patient Centred Research
Thursday 29 February, 12.30pm-1.30pm.
Patient story, 9.25am, MS Teams
Rob Everitt will share his family rare disease story. Rob's son, Owen, has a rare condition and received a diagnosis through the 100,00 Genomes project.
Please not this session is for Genomics laboratory staff only
East Paediatric Genomic Forum, 12.30pm, MS Teams
A Rare Disease Day special looking at screening for treatable rare genetic conditions. If you are a Paediatrician in the East Midlands or East of England and wish to join our Paediatric forum please contact our Education and Training Lead Gemma Chandratillake.
Medics4RareDiseases (M4RD) #ShowYourStripes
Getting involved is easy, simply dig out some stripey socks, pop them on and take a stripey, socky selfie. Photos will be proudly displayed on the M4RD’s Rare-A-Wear Online Gallery, with prizes for the biggest…the best… the most creative efforts.
So be sure to capture snaps of your stripey efforts and post with the hashtags #ShowYourStripes and #RareDiseaseDay and tag in @Medics4RareDiseases - or you can email us your pic to eleanor@m4rd.org.
Non-urgent advice: Patient groups and sources of information
See our 'Resources for Patients' page which contains links to Rare Disease groups and charities dedicated to supporting people with rare diseases and conditions, and their families.
Patient stories
Non-urgent advice: Education, training and resources for healthcare staff
- Rare and Inherited Disease - Genomic Testing
- Medics4RareDiseases
- Genomics Education Programme (GEP)
- Rare Disease Education Hub
- GeNotes - quick, concise information to help healthcare professionals make the right genomic decisions at each stage of a clinical pathway
- Genomics in the NHS: A clinician’s guide to genomic testing for rare disease. A practical online course starting on Monday 4 March 2024, covering the different types of genomic testing for rare disease – from single gene tests to whole genome sequencing – and will walk through the application of this testing in clinical practice. A team of expert mentors will be on hand to answer questions, respond to comments and provide support during the course run. For further details and to sign up, please visit the course page. NHS staff who wish to sign up will have free access to the course, including a free lifetime upgrade, by clicking here.
