Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism

Unsal, Yagmur; Yurdakök, Murat; Yiğit, Şule; Çelik, Tolga; Dursun, Ali; Sivri, Hatice Serap; Tokatlı, Ayşegül; Coşkun, Turgay

doi:10.1515/jpem-2021-0780

Cited by 4 publications

(1 citation statement)

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“…When left untreated, they can result in a host of early life symptoms, ranging from stroke, lethargy, poor feeding leading to failure to thrive, and hypotonia (Enns & Packman, 2001). Although certain inborn errors of metabolism, like Propionic Acidemia, are well-characterized and, with proper dietary intervention, lessen the risk for long-term adverse outcomes such as intellectual disability or developmental delay, proper follow-up and identification of all known inborn errors of metabolism is not perfected (Unsal et al, 2022). As a result, infants with inborn errors of metabolism may only be diagnosed after a major crisis event (Waters et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers’ Postpartum Experiences

Davidson,

Gelles,

Keller

et al. 2023

Qual Health Res

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Rare diseases constitute a group of conditions that are individually rare, but in aggregate impact between 3 and 6% of the world population. Many of these conditions present during infancy and involve substantial caregiving responsibilities, often assessed via quantitative measurements. However, few qualitative analyses examine lived experiences of parent-caregivers during the early period of their child’s life. The purpose of this study was to examine the meaning that rare disease parent-caregivers apply to the postpartum year using data collected from a semi-structured interview exploring significant experiences over the course of their affected child’s life. We utilized an interpretative phenomenological analysis (IPA) approach to analyze 22 interview transcripts from caregivers to children with several inherited metabolic and mitochondrial disorders, as well as an undiagnosed disease. Our analysis yielded three superordinate themes: Reckoning With the Parent-Caregiver Role, Familial Transition, and Adaptation and Adjustment. Subordinate themes expanded upon these concepts and included distinctions between the parent and caregiving identity, communal coping and shifting of family dynamics, as well as meaning applied to child milestones, anticipatory grief, and parental perception of a new normal. Exploration of these themes in relation to existing literature, as well as future research directions for qualitative research on rare disease caregivers, is discussed. Overall, this work contributes to a growing body of literature exploring the parental experience of rare disease across several condition contexts.

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Section: Introductionmentioning

confidence: 99%