How parents of children with ataxia‐telangiectasia use dynamic coping to navigate cyclical uncertainty

Abstract

AbstractAtaxia‐telangiectasia (A‐T) is a rare, childhood‐onset, multi‐systemic, progressive condition. Parents of children with rare diseases like A‐T are emotionally, socially, and psychologically impacted by the diagnosis. To examine the parental perspective of having a child with A‐T, and to better understand how parents cope with an A‐T diagnosis, we conducted 10 semistructured interviews. Thematic analysis using a phenomenological approach resulted in five themes: (1) Parental responsibilities change as the result of an A‐T diagnosis, (2) An A‐T diagnosis brings about shifts in identity for all family members, (3) Parental coping changes over time, (4) A‐T parents experience continuous uncertainty and a lack of stability, and (5) A‐T parents receive support from various people, places, and resources. Many parents fostered resilience by adopting a present‐centered and positive mindset about the impacts of the diagnosis. Parents also became A‐T experts and used their knowledge to advocate for their children and help mentor other parents. Responses from parents indicated a need for providers to incorporate parental mental well‐being check‐ins to pediatric rare disease appointments and welcome parents as respected members of their children's care team. Genetic counselors are in a unique position to help coordinate complex care for children with A‐T (and other rare diseases) and provide support to family members using the framework of family‐centered care. This paper offers suggestions for expanding support and learning to cope with a difficult diagnosis for parents of children with rare diseases, specifically A‐T, based on stories from parents of children with A‐T.