Parents’ understanding of current and future treatments for cystic fibrosis and the implications for their child’s future

Current treatments for cystic fibrosis (CF) have largely focused on symptom management. Consequently little attention has been paid to understanding the genetics of CF, in particular gene mutations and mutation classes. Advances in treatments for CF, the most recent development being Ivacaftor, are starting to become mutation specific. It is becoming increasingly important to understand what patients with CF and parents know about the genetics of CF, in particular whether they are aware of gene mutations and classes. Until now, research exploring parents’ knowledge of CF is almost absent.
30 parents of children with CF aged 5 or under participated in a survey that explored their knowledge about CF. They were asked to identify their child’s CF gene mutations, mutation classes, and how much of an impact that this has on their child’s health. The results of this survey found that most parents knew their child’s gene mutation, though only a significant minority correctly identified mutation class. A further 7 parents took part in semi structured interviews that explored their understanding of CF in more depth, their views of current and future treatments, and future outlooks. An understanding of how much they were aware about Ivacaftor, other treatments in clinical trials, and what this means to them was also explored. Using thematic analysis, five core themes and subthemes were identified: the arrival of CF; adjusting to CF; management of treatments; approaches to thinking about the future; and what I know and feel about new developments.. The themes and implications for clinical practice are discussed.