Reading various articles last week about Rare Disease Day certainly boosted my enthusiasm for a piece of work we are planning here in Oxford.
The event, on February 28th, was marked by activities worldwide to raise awareness among the general public and decision-makers about rare diseases and their impact on people’s lives.
About 3.5 million people in the UK are affected by a rare disease at some point, 75% are children, and 30% of these die before they turn 5. This is a huge toll, but with more than 6,000 such diseases recognised, the number of people affected by any one is relatively small, roughly 500 per condition. Unsurprisingly, medical expertise and knowledge about any one condition are often lacking, and the will and appetite of research funders to invest resources into finding out more about them, and tackling them, may be limited.
Such problems are recognised by initiatives such as the Rare Diseases Translational Research Collaboration set up in 2013 and bringing together Biomedical Research Centres and Units such as those here in Oxford to focus on research and training to develop research capacity.
Our own plans are to now use the JLA method to identify the research priorities that matter to patients, carers and the health and social care professionals who treat those with a range of rare diseases. More of that here soon, but I wanted to reflect on two things that have emerged through the process of setting up this work.
Take a look at RUDY, a project in rare diseases of the bones, joints and blood vessels being run by an Oxford team and which aims to “transform clinical care for participants through patient driven research.” Kassim Javaid is among the group of doctors who set up and run RUDY and is instrumental in our work to identify research priorities in rare musculoskeletal diseases. We are really pleased to be helping to be part of taking forward Rudy’s aims.
We will also focus on rare anaemias, an area driven passionately by Noemi Roy, an academic clinical lecturer in haematology who combines research with seeing patients.
Noemi and I were chatting recently about the need to bring together those for whom the trials of battling rare blood diseases are often compounded by the isolation of being part of a small group. She had just arranged a meeting for families to discuss the makings of a patient support group and told me of one boy who attended. Mercilessly teased at school about the bum bag he has to wear containing the pump that strips his blood of iron that could otherwise reach dangerously high levels, at the meeting, the children were encouraged to play together while older relatives chatted through their concerns. Of all the issues that arose, the one that stayed uppermost in my mind was this boy’s mum telling Noemi it was the first time she’d ever heard him laugh while playing with other youngsters.
Rare diseases are far from rare if you’ve got one, and getting to grips with the help, support and treatment needed to alleviate them should concern us all.