Rare Disease Day was last week. As someone with a rare disease (Ehlers-Danlos Syndrome), I decided to attend a Rare Disease Day event hosted by Rare Disease UK on Wednesday 26th February at the House of Commons. Speakers included Liz Kendall MP (Shadow Minister for Care and Older People) and Earl Howe (the Minister with responsibility for rare diseases). Other speakers were Fiona Marley (Head of Specialist Services at NHS England) and Alastair Kent OBE, Chair of Rare Disease UK. and Director of Genetic Alliance UK.
Although the words ‘rare disease’ suggest that rare diseases are uncommon, around 3 million people in the UK have a rare disease. Liz Kendall MP said that business, society and public services need to work together on rare disease issues. She issued a call to action to people standing in the room: “You must challenge and demand from us better results and support”. She continued: “Your voices must be heard, not just the most powerful”. This was an important point to make – that care should be patient-centred.
Earl Howe, Minster for rare diseases, said that the past year has seen some important steps, referencing Genomics England’s work sequencing thousands of genomes. The 100,000 Genomes Project (owned and funded by the Department of Health) is sequencing 100,000 whole genomes from NHS patients by 2017. They are focusing on patients with a rare disease and their families and patients with cancer. Earl Howe said that so far, 2,200 families have been recruited and out of the 100,000 genomes, more than 15,000 will be sequenced from rare disease patients. Earl Howe mentioned that NHS England is establishing 11 new genome medicine centres which will engage with patients taking part in the 100,000 Genomes project. Other initiatives he talked about included a National Disease Register – which aims to collect data on every single person with a rare disease in England.
Fiona Marley, Assistant Head of Specialised Services for NHS England, spoke about the 145 specialist centres for people with rare diseases in England. Crucially, she said that current NHS England research focused on the experience of people with rare diseases should lead to an improvement in the quality of their lives, i.e. the results will inform future services and support offered. Alastair Kent OBE, Chair of Rare Disease UK (RDUK), also spoke at the event but unfortunately I didn’t manage to capture what he said. Looking back on the event, it was exciting to hear about so many projects related to rare diseases. I never realised that there is a rare diseases advisory group within NHS England for example! There is even a UK Strategy for Rare Diseases (published in 2013). This time next year it will be interesting to see how much more progress has been achieved (in terms of awareness and support) for people with rare diseases.