Abstract
Given their rarity, chronicity, and intense disease management requirements, inborn errors of metabolism (IEMs) present a unique set of challenges for families of affected individuals. The challenges may be mitigated or exacerbated by elements of culture such as beliefs, values, and behavioral practices that impact relationships among family members, with the community, and with healthcare providers. Despite this possibility, research regarding this topic has been sparse, only focusing on elucidating differences in treatment compliance between single minority groups and the majority. This qualitative study aimed to fill this gap by exploring the overarching role of culture for patients and families affected by IEMs. We conducted semi-structured interviews with three affected individuals and six parents of affected individuals. Through inductive analysis, 3 categories encompassing 6 themes emerged. Within the first category, Interpersonal Interactions and Relationships, we found that an IEM diagnosis prompts a greater need for support systems; however, due to perceptions of those outside the family, patients and their family members may experience a sense of isolation or even stigmatization. For the second category, Cultural Practices and Living with an IEM, participants reported that disease management requirements limit the ability to participate in cultural customs and events (like food, vacations, and religious ceremonies). The family’s religious community and beliefs could serve as a source of solace. Finally, as demonstrated in the third category, Genetic Counseling Experiences, genetic healthcare providers rarely addressed how culture impacted disease management with these families. This study highlights the importance of integrating discussions about cultural factors into genetics appointments for families affected by IEMs.