The unusual suspects: Rare disease in everyday medicine

Dunstan Nicol-Wilson is from South East London, United Kingdom. He works as a clinical project manager and has master’s in public health with a global health focus. Dunstan was diagnosed with the “invisible disorder” sickle cell disease from birth. He hopes that through his column and advocacy he will raise awareness for this disease, encourage others to share their stories and showcase all the ups and downs of living with a rare condition.

Ms Kym Winter is the Clinical Director and Founder of Rareminds, a non-profit organisation providing specialist Online Psychotherapy and Counselling Services to rare disease communities. A psychotherapist for over 25 years in a variety of settings including the NHS, she has worked clinically with both patients/families and professionals impacted by rare diseases since 2013. Her former roles include Head of Counselling at the University of Hertfordshire and Chair of a national Psychotherapy Training Programme. She maintains a small private practice as a Consultant to teams and organisations, and sits on the International Neuroendocrine Cancer Alliance Advisory Board. She has a long-standing interest in the psychological impact of technology on relationships and in healthcare settings, and also has lived experience of rare genetic conditions in her immediate family. 

Professor Ed Wild has worked on Huntington’s Disease (HD) since 2005 and leads a team focusing on clinical trials of new HD treatments and studying cerebrospinal fluid to understand HD. He has authored seven book chapters and over 90 peer-reviewed scientific publications, and is Chief Investigator of HDClarity, the first and largest multinational CSF collection study in HD. He received the Huntington’s Disease Society of America Researcher of the Year Award, and Huntington Society of Canada Community Leadership Award. He co-founded HDBuzz, the leading source of accessible, impartial research news for the HD community.

Dr Hayley Crawford is an Associate Professor at University of Warwick Medical School where she leads the Neurodevelopmental Conditions Research group. Her research focusses on characterising behavioural and mental health outcomes in individuals with neurodevelopmental disorders associated with intellectual disability. Her work to date has primarily focussed on understanding autism, anxiety, ADHD and behaviours that challenge in children and adults with rare genetic syndromes through describing behavioural profiles, developmental trajectories, risk markers, and mechanistic underpinnings. Hayley received an Incubator Award from Mental Health Research for ‘building research in under-served areas’. Hayley is a Specialist Advisor to the Fragile X Society, a Co-Director of the Cerebra Network for Neurodevelopmental Disorders and Assistant Deputy Director of the Midlands Mental Health and Neuroscience PhD Programme for Healthcare Professionals.

Dr Jane Waite is a Senior Lecturer and Clinical Psychologist at Aston University.  Jane completed her PhD in the behavioural phenotype of Rubinstein-Taybi syndrome, and then continued her research into several rare genetic syndromes. Jane has also worked extensively on online resources (Further Inform Neurogenetic Disorders (FIND); www.findresources.co.uk) with the aim of improving knowledge exchange between families and professionals. Jane’s current research focuses on factors that influence behavioural outcomes across and within genetic disorders, with a specific focus on executive functioning, low mood, anxiety and pain.