Abstract
Usher syndrome (USH) is the most common genetic cause of combined deafness and blindness. The progressive and unpredictable nature of USH can have a profound impact on both affected individuals and their family members. However, few studies have explored the psychological impact of this diagnosis on parents of children with USH. The purpose of this study was to better understand the experience of parents of children diagnosed with USH, and how the medical and educational professionals can improve their care for this unique population.\r An anonymous online survey was used to collect the experience of caregivers who have a child diagnosed with USH. Of the 71 respondents, all but two were biological parents, 57.8% had a child with USH type II and 36.6% had a child with USH type I. The largest proportion of participants reported that the medical professionals who gave their child a diagnosis were geneticists (38%) and genetic counselors (36.6%), yet only 40% of participants in this group reported receiving a complete overview of USH from these providers. Participants reported the least satisfaction with primary care providers (PCP) and school’s knowledge of USH, followed by the care their child received from their PCP with regard to their diagnosis of USH. Participants indicated they want medical and educational professionals to be (1) more knowledgeable about what an USH diagnosis means both medically and psychologically for a child and their family and (2) be more empathetic, supportive and kind. Overall, parents felt satisfied with their own knowledge of USH, but did not feel comfortable explaining USH to their child and helping prepare them for their future. Participants wanted parents of a newly diagnosed child to understand that a diagnosis of USH is an emotional process and advised them to become their child’s advocate by networking with other parents and support organizations, seeking the top medical specialists in USH, and showing their child constant support. The data from this study provides important insights that can be used to help parents improve the lives of their children with USH and assist medical and educational professionals in adapting their care to best meet their patients and families’ needs.