BackgroundTrimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N‐oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N‐oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish. When the involved enzyme flavin mono‐oxygenase 3 is deficient, TMA builds up and is released in the person's sweat, urine, and breath, giving off a strong body odor. We have recently reported the biochemical and genetic characteristics of 13 Irish adult patients with TMAU attending the main Irish Reference Center. Research on the behavioral and psychosocial aspects of this condition is limited. This study explores the patients' perspectives of living with TMAU in Ireland.MethodsA qualitative descriptive phenomenological approach was used. Six adults participated in this study. Data were gathered through semi‐structured interviews, which were transcribed and analyzed.ResultsThe results suggest that the participants experienced a negative journey to diagnosis. Fear, anxiety, paranoia, and dysfunctional thinking are a constant struggle. Participants reported using avoidant coping mechanisms and strategic planning to navigate daily life.ConclusionIt is considered that the results from this study will inform future interventions with this unique patient cohort.
Our understanding of the meaning of hoarding is still in development. Thematic readings of the literature suggest that hoarding involves a very distinctive way of understanding the world, with the act of acquiring and retaining of material comprising in a form of psychological home or safe space. The connection of the person to their hoard requires further exploration, as does the place that this relationship has with the wider world of society and culture. This study sought to investigate experiences of persons who hoard and their relationship to their hoarded material. A phenomenologically‐oriented qualitative research design was used to investigate 14 participants' experiences of hoarding. Analysis of transcripts was conducted using thematic moment by moment analysis consistent with the phenomenological approach. To give further clarification and elucidation to the meaning of hoarding a psychoanalytically informed analysis of the material was included. Three themes emerged from this process: Firstly, “It's not yours. It's mine”; secondly, “Keeping within the walls”; and thirdly, “Sorting through.” The emergent themes reflect the creative and inventive ways participants related to hoarded material. Themes are discussed in relation to relevant psychoanalytical concepts, including Winnicott's Transitional Objects, with difficulties observed in hoarding paralleling difficulties transitioning out into the world of relating, as well as the part that cultural unconscious processes play here. Aspects of Bion's container‐contained function are also discussed. Implications for future research and working clinically with people who hoard are discussed, particularly the handling of hoarded material.
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