Lessons learned from the COVID-19 pandemic: Looking to the future with The UK Rare Diseases Framework

Dr Kath Bainbridge is the Head of the Genomics Science and Emerging Technologies Team at the Department of Health and Social Care. The team has responsibility for policy on rare diseases, including the UK Rare Diseases Framework. The team is currently working on England’s Rare Diseases Action Plan, which will transform the Framework into specific and measurable actions and is being developed in close collaboration with the rare diseases’ community. Kath has a PhD in genetics and worked as a research scientist before joining the civil service. She has worked in science and policy roles across several government departments and in scrutiny roles for Parliament and the Independent Commission for Aid Impact.

Arti joined the Unique team in August 2015 as an Information Officer. Her main role is to answer queries from new and existing family members and professionals, to provide information about specific rare chromosome and single-gene disorders and to help match up families on the basis of their rare chromosome or gene disorder, symptoms or treatments. She also manages the production of the Unique magazine and Unique’s social media pages. Arti attained a postgraduate diploma in Genomic Medicine from St George’s University in 2020. 

Arti has Treacher Collins Syndrome (TCS) – a rare genetic condition caused by a single gene variant. As a result of her TCS, she also has bilateral moderate conductive hearing loss and wears a bone conduction hearing aid.

Dr Sondra Butterworth began her professional career in nursing. She then moved into education, psychology, and finally research. These skills, combined with the learning from her PhD studies, led her to become the founder of RareQoL. This is a social enterprise based in north Wales. 

Sondra’s PhD thesis was based on exploring the relationship between quality of life (QOL) and social support. This was a mixed method case study of adults living with rare genetic skin conditions. The study concluded that health and social care practitioners, policymakers and commissioners have to make room for QOL perspectives that come from the patient. These are wounded storytellers whose narratives are subjective but are spoken through illness. Sondra has found that the intersecting relationship between the personal characteristics of patients creates challenging lived experiences and often leads to health inequalities. Their collective experiences can influence the direction of their diagnostic journey and must be front and centre of any rare disease implementation plans in a post COVID era.  

Sondra promotes the use of creative approaches to research, which has focused on inclusive research with a diverse community and public involvement. Her work has led her to values that are based on the principles of community psychology, empowerment, inclusion, and interactive bio-psycho-social models of care and support.