Every year, Genetic Alliance UK, made up of over 200 charities and support groups, produces an in-depth report on key issues affecting individuals with genetic and rare conditions, along with detailed policy recommendations. Its report was presented at the Houses of Parliament on Rare Disease Day 2024, and the HBA Support team was delighted to be asked to contribute.
Rare Disease Day: the stats behind the stories
This year, the report called the ‘Stats behind the stories’ focused on looking at the statistics, and the need to better understand the data so the NHS can better support those with rare conditions. The report recognises that while rare conditions are individually rare, they are collectively common, affecting 3.5 million people in the UK. And, while it's important to talk about the stories behind the statistics, this Rare Disease Day policy report is flipping this approach, delving into the statistics behind the stories and calling for a systematic assessment of the prevalence of rare conditions and symptoms in the UK.
Turning the usual approach on its head will enable a much-needed discussion on the prevalence and incidence of rare conditions, the need to segment data, and the need to better count and categorise, and understand the true scale of rare disease to help drive policy development and lead to new diagnosis, raise awareness and potentially prevent or reduce their incidence.
Whole Hearted Support
As the only not-for-profit dedicated to hereditary brain aneurysms, followers of HBA Support will know we are actively addressing the issue of a lack of comprehensive data on familial brain aneurysms. We believe that by recording the incidence of the condition, we can gain a better understanding of its natural history and generational impact. This, in turn, can facilitate the development of tailored treatment guidelines and screening protocols, ultimately bringing visibility and understanding to this partially hidden condition.
HBA Support was delighted to provide a case study for the policy report which sheds more light on these issues and draws valuable conclusions and recommendations to deepen our understanding of rare conditions to achieve equity of care and clear routes to support and treatment. Our organisation fully supports Genetic Alliance’s goal of developing a central library of information about rare conditions in the UK to better support NHS services and inform patients and their families.
In the case study, Rebecca Middleton, our founder shared her personal journey and described encounters with people affected by brain aneurysms, their concerns about familial inheritance, and the lack of comprehensive data around a person’s condition, rather than just counting the symptom of a ‘familial saccular brain aneurysm’. Despite the devastating effects it has had on generations of families, she notes the absence of consistent and trusted data globally and a complete lack of it in the UK. In the report, Rebecca also highlights our collective efforts, such as conducting a Targeted Literature Review to gather information on genomic research, treatment guidelines, and prevalence rates.
Launch at the Houses of Parliament
Our team was in attendance for the presentation on Rare Disease Day 2024, together with Andrew Stephenson, Minister for Health and Secondary Care with responsibility for rare diseases, who was also present to unveil the Government’s 2024 Rare Disease Action Plans.
Rebecca says:
"We are really grateful for our inclusion in this report and to be invited to Westminster for the launch of the report. The analysis presented by Genetic Alliance will play a crucial role in raising awareness about the critical issues around data and the need for better NHS data collection, service planning and condition guidelines, issues close to our heart and what we have asked for since our inception in 2022. We agree with Genetic Alliance’s recommendations and fully support their call for a systematic assessment of the prevalence of rare conditions and symptoms in the UK by the registration Services. Such a review would identify groupings of rare conditions or symptoms of rare conditions that combine to a significant health challenge, allowing the NHS to commission and organise services accordingly.
“We also support their view that more data and analysis would lead to new avenues to improve diagnosis, raise awareness and potentially prevent them or reduce disease. We look forward to playing an active role in these conversations and supporting the better counting and recognition of familial brain aneurysms syndrome as a rare disease – rather than the counting of a symptom of our condition, which does not reflect its true multi-generational impact.”
As Rebecca stated in the published report: “It’s often said in the rare disease world that if you can’t be counted, then you don’t count. And, of course, counting data is counting people. Each data point has a person and a powerful story behind it.”
After enduring generations where only the symptom of a brain aneurysm is counted, and not the disease, it’s time to change the story. “Our community counts. It’s time we were counted.”
Read the full report from the Genetic Alliance UK website via the button below.