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February 28th was Rare Disease Day, and in recognition of this important, yet often overlooked group of conditions, we attended the Westminster Reception hosted by Rare Disease UK (RDUK) supported by the All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions. Large numbers of people, including, policymakers, industry and patient group representatives battled through the bitter winter weather to hear updates from Health Minister Steve Brine MP, whose remit includes rare diseases.
Rt Hon Cheryl Gillan MP begun proceedings by welcoming the attendees, and offering a reminder of the great work done by Genetic Alliance as the Secretariat for the APPG. Gillan, the Vice-Chair of the APPG, became involved in rare disease policy through a campaign to allow access to treatment for Cystic Fibrosis and has championed for rare disease ever since.
Second to the floor was Jayne Spink, Chair of RDUK who spoke about their new work on ‘Understanding Children and Young People’s Experiences’ of rare disease. The report emphasised the importance of care and care co-ordination for this group of patients, particularly as they transition from children’s to adult services.
The most impressive speaker of the afternoon was Sabah Jamil, a young adult with a rare disease who dazzled the room with the story of her experience of her condition and the care she has received. She impressed upon the audience the way that a rare disease will impact on all aspects of a patient’s life, and the value of a seamless transition to adult services.
Lastly Steve Brine MP, with a hard act to follow, spoke about England’s implementation of the Rare Disease Strategy. He focused particularly on progress made in the field of genomics made by the 100,000 genomes project. To date over 50,000 human genomes have been sequenced, which he sited as a huge achievement. However, Brine alluded to the fact there was still much work to be done in order to see the Rare Disease Strategy come to fruition – which prompted a quip from Gillan about holding the Department’s ‘feet to the fire’ to ensure patients see real improvements.
No Parliamentary reception would be complete without mention of Brexit and Brine committed to the fact that no patient would be disadvantaged as a result of Brexit, and committed to ensuring the UK remains a leader in the field of public health on the world stage.
It is against this backdrop that the interim progress report of the Rare Disease Strategy is published, and considering no implementation plan had been in place in England since the strategy’s publication almost five years ago, some good progress has been made. The 100,000 genomes project has been launched, and the Highly Specialised Technology appraisal for ultra-orphan diseases, has been implemented. However, the report identified a number of areas for policy makers to focus on in the next few years, including use of data, Brexit and collaboration across the four nations. It has yet to be seen whether stakeholders can hold the Department’s feet to the fire on these and other elements of the Rare Disease Strategy that have so far failed to be realised.
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