Reconstructing normality following the diagnosis of a childhood chronic disease: Does “rare” make a difference?

Evi Germeni, Isabella Vallini, Mario G. Bianchetti, Peter J. Schulz

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Living with a childhood chronic disease can be challenging, especially if the diagnosis involves a rare condition. This study sought to elucidate how the diagnosis of a rare disease, as compared to a common, chronic condition, may influence maternal experiences of childhood illness. We conducted face-to-face, semi-structured interviews with 26 mothers of children treated in a pediatric hospital in the province of Lecco, Italy. Half of the participants had a child diagnosed with Bartter syndrome (BS), and the rest had a child suffering from celiac disease (CD). Interviews were recorded, transcribed, and analyzed using an inductive thematic approach. We identified three main themes from the analysis of our data: (1) disrupted normality and the need to know, (2) reconstructing normality, and (3) acting “normal.” Although most participants experienced the disclosure of diagnosis as a relief, processes that facilitated normality reconstruction in celiac families, notably access to appropriate information, social support, and personal contact with comparison others, were found to be important stressors for mothers living with BS. Conclusion: This comparative qualitative study provides evidence on how well-known problems associated with the rarity of childhood diseases impact on families’ efforts to cope with the illness and regain a sense of normality.

Original languageEnglish
Pages (from-to)489-495
Number of pages7
JournalEuropean Journal of Pediatrics
Volume177
Issue number4
DOIs
StatePublished - 16 Jan 2018

Keywords

  • Bartter syndrome
  • Celiac disease
  • Family caregivers
  • Illness experience
  • Qualitative research
  • Rare diseases

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