Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?

Abstract

Family communication about genetic information enables informed medical and reproductive decision–making. The literature suggests that a significant proportion of genetically at‐risk family members remain uninformed about genetic risk information as a result of non‐disclosure. This study explored the experiences of New Zealand families communicating about a diagnosis of type 1 myotonic dystrophy (DM1). Eligible individuals were identified and recruited from the New Zealand (NZ) MD Prev study, a nationwide study which aimed to determine the prevalence, impact, and costs of genetic muscle disorders across the lifespan. Twelve qualitative semi‐structured interviews were conducted with 17 participants. The findings demonstrate diversity among and within families, with several distinct family narratives described. Most participants reported a motivation to tell relatives about their diagnosis to promote autonomy. Women were pivotal throughout communication processes and this was often tied to the concept of maternal responsibility and a desire to promote relatives’ reproductive autonomy. The diagnosis of DM1 and the subsequent family communication decisions altered relationships for many, with both positive and negative impacts described. The findings demonstrate that individuals require time to explore the impact of a diagnosis of DM1 on self, family and intimate partner relationships to anticipate unique communication challenges. Genetic counselors can use these findings to inform their approach to counseling families with DM1. Longitudinal genetic counseling may be beneficial as a way to provide individuals with life stage specific support as they communicate with their relatives about a diagnosis of DM1.

Redesign of user interface for e-government application using usability testing method

“…Para CAA, es importante tener en cuenta que la miotonía puede influir en un individuo con MMD con respecto al acceso, particularmente el acceso directo que requiere contracción y liberación muscular. Los sistemas CAA deben programarse para soportar la comunicación expresiva (Taylor et al, 2019).…”