Welsh Rare Disease Day Reception 2024: Recap!

On 20 February, over 80 stakeholders from across the rare disease community came together for the first Rare Disease Day reception of 2024 at the Norwegian Church, Cardiff Bay. There was a great atmosphere as friends and colleagues came together to celebrate achievements from the year and hear about plans for the latest refresh of the Welsh Rare Disease Action Plan published in January. Prof Iolo Doull, Chair of the Rare Disease Implementation Network (RDIN) presented on key areas of progress within the four priority areas of the Welsh plan including:

• Focused recruitment to support rare diseases from within NHS Wales and focus on clinical leadership
• Robust engagement with international and local teams, leading to collaboration on coordination of care
• Working with Medics4RareDiseases, supporting educational delivery and support for wider training
• Pilot of Syndromes Without A Name (SWAN) clinic, highlighted as an example of best practice and supportive of wider discussion on the needs of those without a diagnosis, and the importance of collaboration and considering novel ways to provide support 
• Publication of the All-Wales guidance document ‘Guideline for the Investigation of Moderate / Severe Early Developmental Impairment & Intellectual Disability’ 

We heard inspirational talks from Lucy Vers and Sophie Pierce. Lucy spoke about her 6 year old son Elliott who was diagnosed with Duchenne Muscular Dystrophy and having to travel twice a month from Newport to Newcastle for Elliott to participate in a clinical trial. Lucy has been advocating for more clinical trials for rare conditions to take place in Wales. Sophie has Cystic Fibrosis (CF) and spoke about not letting her condition define her. She continues to push boundaries; climbing mountains and going on adventures including her up and coming attempt to be the first person with CF to row across the Atlantic. You can listen to more about her plans in this video: https://linktr.ee/cruisingfree  

Colleagues from the Wales Gene Park and charity Rare Minds had stands at the event and it was a great opportunity for networking and making new connections. One attendee commented: ‘So lovely to meet … Our stories are different but so many similarities connecting over our beautiful rare girls.’ You can view photos from the evening by following this link: Wales 2024 Rare Disease Day | Flickr

To get involved in our work in Wales, please contact Emma: emma@geneticalliance.org.uk