The unusual suspects: Rare disease in everyday medicine

Aisha Seedat is a graduate of De Montfort University in Leicester, having been diagnosed with Morquio Syndrome from birth has not stopped her from excelling in life. Aisha is an Ambassador for the MPS Society UK, and having a rare disease herself she is passionate about supporting children and young adults like her, especially their families. She is also a public speaker as she talks about her journey with having a rare disease and how she has got through life by overcoming the largest of hurdles.

Dr Denise Williams is a Consultant Clinical Geneticist and has worked in the West Midlands, based in Birmingham, for more than 20 years. Her interests include eye genetics and prenatal genetics, in which she has established regional services with mainstream clinicians. She is also the genetics lead for the national Alstrom, Bardet-Biedl and Wolfram syndrome rare disease services, which provide multi-disciplinary clinics for these patient groups supported by their patient organisations. She is passionate about health equity and has a long-standing interest in providing genetics services for ethnic minority populations.

Dr Sondra Butterworth began her professional career 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. RareQoL has areas of work include:

1. Rare Community Network: aimed at rare advocates.
2. EDIRA: Equality Diversity and Inclusive Research Association.
3. Wellbeing activities with funding from the National Lottery to develop a bilingual wellbeing newsletter.
4. RareQoL Learning: developing a range of learning resources. RareQoL will be supporting university student to gain work experience with their Rare Community Network.

Narrative-based medicine and intersectionality.

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 patient 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 inclusive research with diverse community and public involvement. Her work has led her to values which are based on the principles of community psychology, empowerment, inclusion and interactive bio-psycho-social models of care and support.

Dr Dave Adlam is an Interventional Cardiologist from Leicester. His day-job is implanting stents and heart valves in patients with heart disease. He has a long standing interest in less common coronary artery conditions including spontaneous coronary artery dissection (SCAD) and coronary aneurysms and ectasia (CAE) and works closely with patient organisations to provide care and advance research into these conditions.