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

BACKGROUND: Families and healthcare professionals caring for a sick or disabled child without a definitive diagnosis face unique challenges, particularly in relation to managing uncertainty, access to healthcare and coordination of care. There has been little research exploring the impact this has on families, their support needs or their experience of health services. METHODS: This qualitative interview study included interviews with 14 mothers of children with undiagnosed genetic conditions. Transcripts were analysed using thematic analysis. RESULTS: Four themes emerged, uncovering overlapping patterns in the data: (1) living with complexity amidst uncertainty-'We don't know what tomorrow will bring'; (2) parental role-'I do everything I can'; (3) parental role-'Not coping is not an option'; and (4) support needs-'There's lots of help that just isn't out there'. CONCLUSIONS: The results clearly demonstrate the stresses faced when caring for a child with an undiagnosed genetic condition. Some themes are shared with the experience of other families caring for children with complex needs. However, parents were doing all they could for their child in the context of a life of uncertainty, with the absence of a clear diagnosis clearly causing additional stress that impacted on the whole family. Impact on their emotional and physical well-being was evident; they described times of feeling stressed, worried and anxious. They were confused due to being overloaded with information and frustrated by a lack of care coordination. Parents did not appear to prioritize their own well-being and held back their emotions to protect themselves and others. As a result, they had many unmet needs, particularly relating to emotional support.

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.

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.

Where Should Critically Ill Adolescents Receive Care? A Qualitative Interview-Based Study of Perspectives of Staff Working in Adult and Pediatric Intensive Care Units.

PURPOSE: In the United Kingdom, critically ill adolescents are treated in either adult or pediatric intensive care units (AICUs or PICUs). This study explores staff perspectives on where and how best to care for this distinct group. MATERIALS AND METHODS: Semistructured interviews were conducted with 12 members of staff (3 medical, 6 nursing, and 3 allied health professionals) working in 4 ICUs; 2 general hospital AICUs and 2 tertiary centre-based PICUs in England. Interviews were audio-recorded, transcribed, and analyzed using framework analysis. FINDINGS: One overarching theme was identified, reflecting staff understanding of the term "adolescent," and this was linked to 2 further themes, each of which had several subthemes. "Needs of the critically ill adolescent" included medical needs, dignity and privacy, issues around consent, and the impact of intensive care admission. "Implications for staff" included managing parental presence and lack of familiarity, and emotional impact, of dealing with this patient group. Some of these factors are currently better accommodated in adult settings. CONCLUSIONS: Decision-making about the place of care should take into account the individual circumstances of the patient (e.g., nature of their medical condition and previous experiences, maturity, family preference) and not be based only on age at admission. We should work across disciplines to ensure we can discover, and consistently deliver, best practice to meet the needs of critically ill adolescents.

Eliciting the experiences of the adolescent-parent dyad following critical care admission: a pilot study.

Critically ill adolescents are usually treated on intensive care units optimised for much older adults or younger children. The way they access and experience health services may be very different to most adolescent service users, and existing quality criteria may not apply to them. The objectives of this pilot study were, firstly, to determine whether adolescents and their families were able to articulate their experiences of their critical care admission and secondly, to identify the factors that are important to them during their intensive care unit (ICU) or high dependency unit (HDU) stay. Participants were 14-17 year olds who had previously had an emergency admission to an adult or paediatric ICU/HDU in one of four UK hospitals (two adult, two paediatric) and their parents. Semi-structured interviews were conducted with eight mother-adolescent dyads and one mother. Interviews were transcribed and analysed using framework analysis. CONCLUSION: The main reported determinant of high-quality care was the quality of interaction with staff. The significance of these interactions and their environment depended on adolescents' awareness of their surroundings, which was often limited in ICU and changed significantly over the course of their illness. Qualitative interview methodology would be difficult to scale up for this group. What is known • Critically ill adolescents are usually treated on intensive care units optimised for older adults or younger children. • The way they access and experience health services may be different to most adolescent patients; existing quality criteria may not apply. What is new • Reported determinants of high-quality care were age-appropriateness of the environment, respectfulness and friendliness of staff, communication and inclusion in healthcare decisions. • The significance of these depended on adolescents' awareness of their surroundings, which was often limited and changed over the course of their illness.

The Experience of Long-Stay Parents in the ICU: A Qualitative Study of Parent and Staff Perspectives.

OBJECTIVE: Meeting the needs of parents of critically ill children is increasingly being recognized as an important factor in the child's clinical outcome as well as the implications it has for future parenting. Little is specifically known about the experience of parents who have a child in the ICU for a prolonged period. Our objective was to understand the experiences of this group to assist in the identification of mechanisms for providing support. DESIGN: Qualitative study based on semistructured interviews. Data were analyzed using the Framework approach. SETTING: The study took place in a tertiary pediatric hospital containing three ICUs: PICU, cardiac ICU, and neonatal ICU (ICU will be used to encompass neonatal ICU, cardiac ICU, and PICU for the remainder of the article). SUBJECTS: Seventeen members of staff and 26 parents of a child who had a long stay in one of the three ICUs. INTERVENTIONS: Semistructured, tape-recorded interviews. MEASUREMENTS AND MAIN RESULTS: Analyses identified two overarching themes, "parent process" and "parent/staff interface," and six subthemes: adjustment, normalization/institutionalization, conflict, involvement in child's care, individualized care, and transition. Themes have been modeled to account for the parental process during a long stay in the ICU and the potential implications for the relationships and interactions between parents and staff. Findings are presented from the data related to the parent process and parent/staff interface. Inclusion of an element in the model related to staff indicates where support mechanisms should be focused. CONCLUSIONS: Over time, long-stay families will likely become more familiar with the environment of the ICU, more knowledgeable about their child's medical needs and more familiar with the staff looking after their child. This has a number of implications for staff working in the ICU.

The Challenges of Caring for Long-Stay Patients in the PICU.

OBJECTIVE: Compared to shorter-stay patients, caring for long-stay patients in the ICU entails a disproportionate burden for staff. Our objective was to gain a deeper understanding of the impact on staff of caring for children who have a prolonged stay on the PICU. DESIGN: Qualitative study based on semi-structured interviews. Data were analyzed using the Framework approach. SETTING: Children's tertiary hospital. PARTICIPANTS: Seventeen members of staff (7 psychosocial staff, 7 nurses, 3 consultants) working in the PICU, neonatal ICU, or cardiac ICU (PICU will be used to encompass neonatal ICU, cardiac ICU, and PICU for the remainder of this article). INTERVENTIONS: Semi-structured, tape-recorded interviews. MEASUREMENTS AND MAIN RESULTS: Staff reported both positive and challenging aspects of caring for long-stay patients in the PICU. Five key areas relating to the challenges of caring for long-stay patients were identified: staff expectations about their work, characteristics of the patient group, the impact on staff, the impact on the wider unit, and the availability of support. Staff views were often compounded by individual cases they had been involved with or had heard about which fell at either end of the spectrum of "good" and "bad". CONCLUSIONS: Whilst there are reported benefits associated with caring for long-stay patients, there are a number of challenges reported that may have implications for staff and the wider unit. When caring for a particular sub-group of long-stay patients, staff may be more likely to experience negative impacts. A key priority for the PICU is to ensure that support mechanisms are timely, accessible, and allow staff to explore their own reactions to their work.