Unique – 40 years supporting families with rare genetic disorders

Unique is a UK-based charity that serves a global community of people and families affected by rare chromosome and gene disorders predominantly associated with developmental delay and/or intellectual disability. It aims to provide knowledge and support from the moment of diagnosis throughout a person’s lifetime. Unique has a community of over 35,000 members worldwide, based in 135 countries. Whilst diagnoses vary, myriad experiences of living with rare chromosome and gene disorders are shared by Unique members, from pregnancy to adulthood, providing an important source of insights, advice and support to individuals and families living similar lives under the care of different health services. This paper outlines the nature of support and information services provided by Unique and highlights key insights gleaned from direct engagement with its members. Unique’s services work in partnership with clinical care but also contribute to the broader understanding of lived experiences, unmet needs and opportunities for improved service delivery.