This year on Rare Disease Day (29th February) the Department of Health and Social Care (DHSC) published an update on its Rare Disease Action Plan, which sets out what they have done in efforts to improve the lives of people with Rare Diseases – focused around the priorities set out in the UK Rare Diseases Framework (2021), as well as what they plan to do next. You can access the full report here but below our coordinator, Beth, reflects on some of the highlights of the report and how they fit with recent activity we have engaged in as a charity:
Priority 1: Improving diagnosis
The DHSC held a workshop to understand challenges faced by people with rare conditions that aren’t genetic. Our National Coordinator Beth attended this workshop to advocate for and highlight the experiences of those members of our community who are impacted by non-genetic forms of CJD. We have also taken part in campaigning on Rare Disease Day as well as collaborating with Medics for Rare Diseases on social media campaigns to promote CJD nationally and internationally.
Priority 2: Improving awareness of rare diseases amongst health professionals
They DHSC have developed their Rare Disease Education Hub, an online training platform for health workers which also links to patient and family support. The links to support direct people to the Genetic Alliance UK website. As a member of Genetic Alliance UK, the CJD Support Network is listed on their website for health professionals and families to find. We also recently published, in collaboration with national specialist clinicians and those with lived experience, a ‘Fact Sheet for Local Professionals’ which the National CJD Nursing Service have committed to routinely sharing with local clinicians supporting patients with CJD and their families.
Priority 3: Improving coordination of care
The DHSC have introduced requirements for mental health support to be considered when treating people with rare diseases. As a charity, the CJD Support Network has always had the mission of helping to make sure that not only appropriate practical but also emotional support is available for families affected by CJD. We are lucky to work closely with teams in London and Edinburgh, alongside having our helpline and peer support groups available, as well as our annual in person Family Support Meeting. We also recently funded a research project at the National Prion Clinic which will assess a psychological intervention for those living at risk of prion disease, and published our ‘Bereavement by CJD‘ factsheet.
Priority 4: Improving access to specialist care and treatments
The DHSC looked for the first time at all the research happening on rare diseases in the UK, and found that £1.1 billion has been invested by governments and charities over the last five years. They also set up the UK Rare Disease Research Platform which will invest £14 million into research for rare diseases. At the CJD Support Network we are proud to be able to contribute to research with the funds raised, and videos outlining recently funded research projects can be found on our YouTube channel, here. We have good relationships with national specialist care services in London and Edinburgh. We also provide updates on what is happening internationally in terms of possible treatments, and have links with the National Prion Clinic (London) and their campaign fund Cure CJD.
What next…
The full report outlines different things that the DHSC plans to do going forward, but something we are particularly interested in is that they are putting together resources to help people who work in healthcare to have difficult conversations with patients about genetic testing and results. I look forward to seeing this published as we look to develop the ways in which we offer support for not only healthcare professionals but also parents and other family members having these conversations.
As far as we understand, the most recently published report is the England Rare Disease Action Plan. Whilst we know that the different nations in the UK face different challenges, I hope that this report will inform and support action planning across Scotland, Wales and Northern Ireland. Click below for previously published Rare Disease Action Plans for each nation:
Wales Rare Disease Action Plan 2022 (Cymraeg)
Wales Rare Disease Action Plan 2022 (English)
