That eagle covering me: transitioning and connected autonomy for emerging adults with cystinosis

Abstract

Background Rare diseases pose transitioning challenges owing to limited provider expertise and changing healthcare systems. The timeframe and developmental changes of emerging adulthood overlap with the transition of patients with cystinosis from pediatric to adult-oriented healthcare. Methods This study utilized techniques of qualitative grounded theory to explore the experiences of adults aged 18-47 with cystinosis, and their parents, with a focus on the transition to adulthood and adult-oriented care. Forty-six individuals from 21 families were recruited online and at cystinosis conferences to participate in focus groups and/or individual interviews. The constant comparative method was used to conduct both line-by-line and focused coding of verbatim transcripts. Results The following elements were reported to be critical to the transition to adulthood and adult-oriented care: gaining skills and responsibility for disease management, progressing toward autonomy while remaining connected to caregivers, and having strong communication with and between providers. Conclusions Data analysis identified behaviors and relationships that support and/or threaten autonomy and treatment adherence. Participants described institutional, relational, and practical barriers to transition. Suggestions for improving transitioning include: identifying patient/family strengths and improving pediatric-adult provider partnerships and communication. Further research is needed into the experience of patients before and after transition to adult-oriented care.

Parenting a child with chronic illness as they transition into adulthood: A systematic review and thematic synthesis of parents’ experiences

“…Our findings suggest that exclusion from consultations is difficult for parents, particularly when they perceive their child is not coping well [12]. While professionals have shown empathy for parents' information needs, a belief that parents gradually lose their right to information about their young adult child's health is embedded in practice [53,59]. However, this issue is complex; while lone consulting is cited as a common goal in the transition process [9,60], research is clear on the protective nature of parental involvement in terms of disease control [8,11,61].…”

“…A limitation of this review is that even though our definition of young people was broad, searches still identified papers discussing healthcare transition from the perspective of parents of children who fell outside of our specified age range [e.g. 62,75] and papers in which the parental perspective could not be distinguished from that of young people or professionals [e.g. 76,77].…”

Family Strategies for Living with Rare Disease: The Experience of Cystinosis

“…The primary study questions for this investigation focused on the transition to adulthood and adult-oriented care for individuals with cystinosis (see Table 1). Findings regarding the transition experience itself, and the importance of peer support, have been described previously (Doyle, 2015;Doyle & Werner-Lin, 2015). As a core category, which organizes the other codes and categories regarding participants' main concern (Glaser, 2002), participants "recognized the reprieve" that changing medicine has offered in extending the lifespan of cystinosis patients into adulthood (Doyle & Werner-Lin, 2015).…”

“…Patients now entering adulthood were diagnosed before or early on in the availability of cysteamine treatment. Their parents generally received dire prognoses, including the expectation that their child would die before reaching adulthood (Doyle & Werner-Lin, 2015).…”

“…A recently approved extended-release medication (Pollack, 2013) appears not only to improve adherence and quality of life but also to preserve kidney function (Langman et al, 2014). These medical advances have transformed cystinosis from a fatal to a chronic disease (Doyle & Werner-Lin, 2015;Nesterova & Gahl, 2013).…”