Perspectives on dietary adherence among women with inborn errors of metabolism

Adherence to highly restrictive diets is critical for women of childbearing age who have inborn errors of metabolism such as phenylketonuria. The purpose of this study was to explore attitudes about diet, barriers to and facilitators of dietary adherence, and experiences with the health care system in promoting dietary adherence among adolescent and adult women with inborn errors of metabolism to identify policy-level interventions to improve adherence. We analyzed the results of four focus groups including a total of 19 women between the ages of 12 and 52 years with phenylketonuria, methylmalonic acidemia, or maple syrup urine disease attending an educational summer camp in 2008. Themes were identified after independent analysis of transcripts. Most participants were highly knowledgeable about their dietary requirements and some could describe their own specific negative experiences of nonadherence. Many reported specific challenges, such as feelings of being different, that they experienced in elementary and middle school. Friends and family play an important role in maintaining dietary adherence. Participants identified one registered dietitian in particular who has played an important supportive role. Insurance coverage for medical foods was a common concern. Most participants identified concerns about transitioning from pediatric to adult medical services. We identified four specific strategies for future evaluation that may improve dietary adherence and health outcomes for women and their potential offspring: symptom-based dietary monitoring for some, educating school officials about medical diets, expanding the role of registered dietitians; and assisting with the transition from pediatric to adult health care providers.