On Thursday 11 February the APPG on rare, genetic and undiagnosed conditions held its inaugural meeting. A group of influential MPs and Peers met with families, patient organisations and professional representatives to discuss how the needs of patients and families affected by rare, genetic and undiagnosed conditions can be met by policy makers in Westminster and beyond.
Alison, whose son Gabriel has an undiagnosed condition, provided a moving account about her experience: “we live every day not knowing what is wrong with our son. We live under the shadow of an unknown disorder. There is no collective before us to tell us what to expect in the future. We are living in the dark... But the technology is being developed. We need access to the best equipment that exists to help us get some idea of what lies ahead so we can prepare physically and mentally. For us this is genome testing. Not getting a diagnosis isn’t an option anymore - not when the technology exists”.
Discussion followed on how the APPG will provide a useful forum for parliamentarians to meet patients and families, who are often vital to converting complicated and abstract debates to the everyday reality of people’s lives. As well as how the APPG can provide a forum for discussion issues such as genome editing.
Alastair Kent OBE, Director of Genetic Alliance UK, spoke about ensuring the effective implementation of the 51 commitments in the UK Strategy for Rare Diseases: "The Strategy provides a clear framework for patients and families to know what they can expect from the NHS, and it is the first time since the establishment of the NHS that patients and families affected by rare conditions have had a clear commitment from Government that their healthcare needs will be met.” Members agreed the implementation of the strategy should be one of the focuses of its work.
Ben Howlett MP was elected chair of the group, supported by Cheryl Gillan MP, Baroness Pauline Neville-Jones, Lord Patel and Lord Turnberg as Vice-Chairs. Genetic Alliance UK, the national alliance of over 180 patient organisations which works to improve the lives of patients and families affected by all types of genetic conditions, will provide the secretariat.
Ben Howlett MP closed the meeting by voicing his aspirations for the group: “When APPGs are done well they can make a huge difference, and be hugely influential and help shape the narrative... through this we can help colleagues help their constituents. I am excited to work with you all.”
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