Supporting families of children with an undiagnosed genetic condition: Using co‐design to ensure the right person is in the right post doing the right job

Abstract

Background Families and professionals caring for a child without a definitive diagnosis face unique challenges, particularly in relation to managing uncertainty; access to healthcare; obtaining relevant information and support; and trying to navigate a healthcare system that is often fragmented. We used co‐design to inform the establishment of the first UK specialist nursing post dedicated to working with children with undiagnosed genetic conditions and their families. Objectives: (1) To understand what families and hospital staff want from the service; (2) To understand how the post should be operationalized in practice; (3) To develop the job description and person specification for the postholder. Methods A range of approaches were used to collect data: interviews (nine parents and 10 hospital staff); a focus group (three parents); a creative workshop (six patients and siblings); and an online forum (81 parents). Data were analyzed using framework and thematic analysis. The strands of data were brought together and reviewed as a whole to formulate the postholder's job description and person specification. Results Stakeholders identified nine key elements to the role which were incorporated into the job description: practical support; point of contact; community liaison; signposting to other services; care coordination; supporting families; advocacy; raising awareness; and emotional support. Conclusions Highlighted in this paper are the practical aspects of engaging and involving all relevant stakeholders in the process of co‐designing a new post and subsequent staff recruitment. The flexibility employed in the setting and methods of data collection were instrumental in ensuring that the views of a diverse range of participants were ascertained. A major consideration is the resources required to undertake co‐design, in terms of time and finances. We believe that the resources required for the co‐design are offset by the advantages of having the right person in the right post, doing the right job.

What can a Family Liaison Service offer families of children with disabilities and/or developmental difficulties?

“…In line with previous research (Oulton et al , 2021), service provider skills were found to be vital to the success of the FLS, however participants reported that being independent from health and social care is a clear strength and increased families’ confidence in a FLO providing impartial, accessible and practicable advice. FLOs who are able to draw on their own personal experience of disability within the family was considered invaluable.…”

‘We don't know what tomorrow will bring’: Parents' experiences of caring for a child with an undiagnosed genetic condition

“…These findings are the focus of this paper. The use of co-design with key stakeholders, including families, to influence the nature of the role and how it was implemented in practice has been described elsewhere (Oulton et al, 2020).…”

Parents’ experiences of children’s health care for hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

“…Familycentered care also recognizes and integrates the important role of families in pediatric health care, ensuring parent-professional collaboration, information sharing, and family-support (Kokorelias, Gignac, Naglie, & Cameron, 2019). In the United Kingdom (UK), research has found that families of children with an undiagnosed condition have described health as requiring improvements to care-coordination, awareness, and advocacy, and that parents are emotionally impacted while managing uncertainty (Aldiss et al, 2021;Oulton et al, 2021). Similarly, research globally has identified that access to health services and information provision could be improved (Brannon, Ray, Lark, & Kindratt, 2021;Kiernan, Courtney, Ryan, McQuillan, & Guerin, 2020).…”