Duchenne muscular dystrophy is an X-linked lethal genetic disorder that affects approximately 1:3500 live male births. There is currently no treatment or cure for Duchenne muscular dystrophy. Between the years of 1985 and 1997, 58 males were identified with muscular dystrophy through a Western Pennsylvania pilot neonatal muscular dystrophy screening project. The experience of the parents of the children identified, and how the pre-symptomatic information affected their families, specifically their reproductive planning, has not previously been explored with parents from this pilot screening program. This study aims to describe the impact of this experience on the family and identify factors that influenced this experience using a qualitative design. Participants have been recruited through the muscular dystrophy clinic in Pittsburgh, Pennsylvania and through multiple study announcements in several muscular dystrophy newsletters. Parents complete a semi-structured interview and a questionnaire that assesses family functioning. The interview data is being descriptively coded and themes identified through interpretative analysis of the preliminary coding. The data from the questionnaire adds context to the qualitative description of the parental experiences. Findings from this study will help to improve our understanding of how neonatal screening for untreatable conditions potentially affects the family, and will help inform policy on screening for untreatable disorders.
