Abstract
Discussing the implications of a genetic condition with an affected child is challenging; it may be even more so in conditions like fragile X syndrome (FXS) where the child is cognitively impaired and at risk of passing the same condition to their offspring. Previous research has not examined the communication of a FXS diagnosis with symptomatic girls with FMR1 full mutations. This study explored the experiences of parents discussing the diagnosis of FXS with their symptomatic daughters. We conducted semi-structured interviews with six mothers we recruited through the National Fragile X Foundation, FRAXA Research Foundation, and Facebook. We analyzed and coded interview transcripts using grounded theory and Atlas.ti software. The mothers’ ages ranged from 43 to 54 years. The daughters ranged in age, from 3 to 14 years at the time of diagnosis, and 14 to 26 years at the time of this study and the average age of disclosure of the daughter’s diagnosis was 13 years. Mothers in this study stated they used open communication and tried to give their daughters a positive outlook when discussing FXS with them. We found that most mothers used their daughters’ learning difficulties to initially explain their FXS diagnosis and the majority did not focus their conversations on the reproductive risks associated with FXS. Some mothers explained to their daughter that she has the same condition as a male relative but not as severe. The parental challenges that emerged from this study were guilt felt by mothers for being carriers, trouble determining if daughters understood the information, and needing more guidance from health care professionals on how to have these discussions. The most common piece of advice for other parents was to find more resources, including help from health care professionals and support groups, when preparing to have these discussions.