On 23rd September, Rick and Mary Rose attended Cambridge Rare Disease Network’s RAREsummit at the Wellcome Genome Campus in Hinxton. CRDN events have become a major highlight of the rare disease calendar with a friendly and collaborative atmosphere, as strong patient group presence, and talks that always bring something new to the table.
The day started early for the Findacure team, as we were exhibiting on the day in the hope of finding new beneficiaries and supporters. Our eye-catching stand certainly delivered, we had conversations with a lot of different people throughout the day, and hope to see some new faces at Findacure events very soon.
After the event was officially opened by CRDN staff and trustees, Alistair Kent’s gave an overview of the history of 25 years in rare diseases. He reflected on the rapid progress since the genetic revolution and the threat to rare disease collaborations posed by Brexit. Despite time being challenging he was optimistic about the future, due to both technological advances, and the growing awareness of the rare disease challenge.
The next panel, led by Anna Mingorance, delved into the role patient groups play in the drug development process. This panel was comprised of patient groups who shared their successes as well as the barriers that stifled their progress. These inspiring talks spanned small groups for ultra-rare diseases to international organisations and collaborations. The Findacure team all really enjoyed the session. It was great to see Findacure peer mentee Carina Thurgood-CEO of the Maddi Foundation- sharing her own experiences on stage, and the work of Gaucher’s International to deliver treatment of patients in Africa.
Later in the day our co-founder Nick Sireau sat on a panel about patients in drug development. He called for a cross-pharma philanthropic fund to support patient groups’ growth and development. Currently patient groups are being asked to do a lot of leg work to help drive research in the rare disease field. These patient groups need support so that they have the necessary resources to to do this.
After a networking lunch which allowed attendees to browse company and charity exhibits and a patient journey poster gallery, the talks resumed. This final session gave insights into the different ways rare disease patients can be supported. These included improved patient accessible genetic reports, tools to help blind junior school children learn to code, and a peer-led approach to self-management in haemophilia. Baroness Blackwood, Parliamentary Under Secretary of State at the Department of Health and Social Care, closed the session, speaking on the future of rare disease policy. She took a lot of time answering challenging questions from the audience, drawing on her personal experience with living with a rare disease.
With the close of the speaking programme, CRDN embarked upon a new challenge – running a hackathon event to get the conference delegates to consider the needs for the new UK rare disease strategy. Rick’s group were assessing the best way to improve patient engagement.They discussed in detail the need for improved access to funds, data, and training for rare disease patient groups. There was some highly engaged and active discussion, and it was great to see all stakeholders thinking about enhancing patient perspective. At the end of the session five different ideas were fed back to the whole audience in two minute pitches, with the best chose as a winner – Rick came second, so better luck next time!
It was great to be involved in such a positive day that really celebrated the rare disease community but also highlighted the need for additional support for the small patient groups working in the space to deliver their full potential. We hope the conversations will inspire more to get involved and stand up for rare disease patients in the near future.