"There Are Hills and Valleys": Experiences of Parenting a Son With X-Linked Retinoschisis

To explore the experiences of parents of sons with X-linked retinoschisis (XLRS).

Mixed methods-qualitative interviews with quantitative survey.

Parents of sons with XLRS who were evaluated at the National Eye Institute between December 2017 and January 2019 were eligible for this study. Participation involved engaging in a semistructured interview and completing a survey assessing optimism, anxiety, personality traits, and sociodemographics using valid and reliable scales. Interview transcripts were coded and analyzed thematically, and scales were scored and used descriptively.

Eleven mothers and 8 fathers from 13 families participated. Optimism, anxiety, and personality traits fell into the normative ranges for the scales. Parents described a process of continuous adaptation to their son's condition. The initial diagnosis was characterized by shock, grief, and "devastation" for most parents. Maternal guilt was common, but usually lessened over time. As parents adjusted to life postdiagnosis, they attempted to achieve a state of normalcy while balancing a desire to protect their sons. Significant sources of stress included decisions around sports participation and driving. Among all parents, the fear of retinal detachment was an ongoing concern. Most parents did identify perceived benefits from their experiences, such as feelings of gratitude or family cohesion.

Most parents viewed XLRS as a significant challenge in their sons' lives, but one that could be overcome. Clinical encounters may be enhanced for families with XLRS by providing accurate information, preparing families for potential challenges, anticipating stressful decisions, and meeting other families with XLRS.