Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature

Abstract

Developing increased independence is a primary goal of the transition to adulthood. Individuals with disabilities may face additional challenges in developing and maintaining independence during this transition. While clinical presentations associated with many skeletal dysplasias have been documented, recent research investigating how skeletal dysplasia affects independence in young adulthood is limited. We sought to understand and describe how young adults with short stature and skeletal dysplasia define independence, the barriers they face in achieving and maintaining independence, and the resources they leverage to support their independence. We conducted virtual semi-structured qualitative interviews with 10 young adults (ages 18–28 years) with short stature and skeletal dysplasia. Interviews were transcribed and analyzed using a modified constructivist grounded theory methodology. Skeletal dysplasia diagnoses among the interviewed cohort include achondroplasia, osteogenesis imperfecta, spondyloepiphyseal dysplasia tarda, spondyloepimetaphyseal dysplasia, and acromicric/geleophysic dysplasia. Participants' experiences with independence are described through four major categories: prioritizing self-sufficiency, accommodating tension, identifying obstacles, and incorporating facilitators. Considering these categories, we propose that for young adults with short stature and skeletal dysplasia, independence is a balancing act between self-sufficiency and accepting needed assistance. Based on these results, providers can recognize independence as a balancing act between competing priorities, and investigate and support patients' individual priorities. Providers can also explore patients' coping strategies, provide anticipatory guidance, connect individuals to others with shared experiences, learn about available adaptive equipment, and evaluate their clinic environments for accessibility.