We coordinated our appearances in the lead-up to Rare Disease Day!

by | Mar 6, 2023 | Blog, Rare disease world

The Beacon team has been all over the country in celebration of Rare Disease Day! From UCB and Abbey Road Studios to the Royal Society of Medicine and Westminster, our team has enjoyed every in-person and virtual event put on by the rare community.

Join us as we look back at this year’s Rare Disease Day celebrations and see what we thought of each event!

Dr Rick Thompson – CEO

It is crucial to get rare diseases noticed on Rare Disease Day and to highlight progress in the field. Attending events is always a great way to do this, but we also try to ensure some visibility in the written media.

This year was no different: firstly, with the release of The Student Voice Prize winner’s blogs and secondly with the chance to join Mediaplanet’s online edition of the Rare Disease Day Campaign 2023. It is always exciting to join this annual publication, and this year we took the opportunity to highlight the growing number of initiatives in the drug repurposing space. Whether the new EU consortium REMEDi4ALL or LifeArc’s repurposing toolkit, these new projects are truly focused on easing the route of repurposed drugs to patients. This can only be a good thing for those living with rare conditions. Check out the article here!

Philippa – Senior Projects Officer

February was such a busy month for us all in the rare disease community! I found myself jetting off to Madrid for three days in the middle of the month to speak at Bamberg Health’s Rare Summit on patient involvement in drug approvals and access. It was great to be alongside such brilliant panellists and I always love being able to get involved in discussions and say my piece! The panel was really well received so it was definitely worth the plane ride.

On Rare Disease Day itself, it was wonderful to plan and run our second ‘Beyond the Student Voice Prize’ event where we brought together patient advocates and students to be inspired by those working in different fields with medicine, health and the rare community.

Another huge highlight was having the opportunity to go to Abbey Road as part of the ‘This is Rare’ project by Sanofi. It was so great to be amongst so many other advocates and you could feel the excitement in the air. I doubt I’ll ever get to go back, so it was a real once-in-a-lifetime experience. Sharing the finished video with friends and family was quite an emotional and rewarding experience too.

Will – Projects Administrator 

I had a great day at The Royal Society of Medicine for The unusual suspects: Rare disease in everyday medicine, which was expertly organised and run by Lucy McKay and the Medics for Rare Diseases Team.

Dunstan Nicol Wilson shared his very personal story of living and growing up with Sickle cell disease and how his own personal views and treatment he has received has changed from transitioning between paediatric care and adult care. You can find some of his great writing here at sickle cell disease news. I also learned about some of the great work the sickle cell society is doing in recruiting black-heritage blood donors through their Give blood, spread love campaign.

It was a very mental health-focused day, which is something that unites all rare diseases and is a shared experience for all. Rareminds CEO Kym Winter magnificently spoke on the increased significance and importance of mental health support in the rare disease community. Dr Hayley Crawford and Dr Jane Waite shared the work that they are doing with CEREBRA and the new project FIND (Further Inform Neurogenetic Disorders). Both key platforms in helping and supporting children with neurodevelopmental conditions and their parents and carers. In their talk, they highlighted tools that they are working to support the mental health of children with learning difficulties.

Finally, Professor Ed Wild gave a great summary of the work that he and his team had done on a clinical trial for a Huntington’s disease medicine, with many of the team having Huntington’s themselves.

Overall, it was a brilliant event that showed that we can’t just focus on finding medicines for rare diseases and neglect the mental health of the rare disease community as a lot of work is needed to be done.

Hannah and Chloe

Hannah – Senior Projects Officer

On the 9th of February, I visited UCB’s Office alongside Chloe our Scientific Projects Officer. During our visit, we toured their R&D and Manufacturing Labs to learn more about the drug development process.

Coming from a non-science background, it was a completely new experience and I found it fascinating. After the tours, we participated in some focus groups with other patient group leaders to discuss how to get patients involved in research. It was a great opportunity to connect with others disease charities and learn more about UCB and the work they do.

Chloe – Scientific Projects Officer

The UCB day presented a lot of useful information about the drug development process. The tour of the lab was really interesting. We got to see where each step of the drug development process takes place from early testing to purification of the materials and safety testing.

At the end of the day, we had time to discuss relevant issues faced by rare disease advocates from organisations with members across UK, Ireland and organisations from Europe. The discussion highlighted some very interesting issues and solutions; highlighting how patients can access information (and ask for help understanding) from every stage of drug development and where pharma companies are looking for collaborators.

Faith – Fundraising Officer

To mark Rare Disease Day, I took part in a virtual trip around the world with RDI to explore the collaboration and unity of the rare disease community.

The online event, #SeeRare, began with an introduction by KP Tsang from Rare Diseases Hong Kong. Next we were given a whirlwind tour of a number of amazing rare disease advocates from all around the world. We began in Malaysia and stopped off in 29 other different countries.

The event beautifully illuminated the unity of the entire rare disease community, whilst also bringing visibility to their struggles and achievements. Beacon’s very own Marketing and Engagement Manager, Blayne Baker, eloquently highlighted the work we are carrying out here in Cambridge as stop number 8 in the event. All in all, it was a pleasure to watch and feel part of the global rare disease community.

Blayne – Marketing & Engagement Manager

On Rare Disease Day, I made the exciting trip to Westminster with Hannah for Genetic Alliance UK’s Westminster Rare Disease Day Reception! I love reading and condensing rare disease policy, so making it to Parliament’s capital was a dream come true.

Nothing prepares you for the extravagant architecture and rooms you progress through in Westminster. Every chandelier, painting and piece of HRH china took my breath away. It’s not every day that you get to see inside this historic hall!

Genetic Alliance UK did a fantastic job of bringing the community together to celebrate the community’s advances in a world-class forum. It was so lovely to hug the rare advocates who I’ve grown grow close to over Zoom (and social media!) in the last two years. My biggest takeaway from the event was without a doubt the presentation from Blessing Abdul. Blessing shared her experience of care coordination with her Sickle Cell treatment compared to her Lymphoma treatment. The contrast was stark and disheartening. Blessing shares her experience in Genetic Alliance UK’s recently published Coordinating Care report. Read it now to view its findings and share!

Before I close, I want to give a massive shout out to the Genetic Alliance UK team for throwing yet another spectacular Rare Disease Day event and campaign! Well done all – we appreciate all your hard work and dedication!