ORIGINAL ARTICLE
Evi Germeni
1,2
&
Isabella Vallini
2
&
Mario G. Bianchetti
3,4
&
Peter J. Schulz
2
Received: 16 November 2017 /Revised: 22 December 2017 /Accepted: 28 December 2017 /Published online: 16 January 2018
#
The Author(s) 2018. This article is an open access publication
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 Bnormal.^ 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.
What is Known:
• Families living with a rare disease have been found to experience a range of common problems, directly linked to the rarity of these pathologies.
What is New:
• Maximization of both emotional and instrumental social support, through provision of appropriate information or establishment of disease-specific
support groups, could greatly contribute to rare disease families’ efforts to cope with childhood illness and regain a sense of normality.
Keywords Rare diseases
.
Bartter syndrome
.
Celiac disease
.
Illness experience
.
Family caregivers
.
Qualitative research
Communicated by Piet Leroy
Electronic supplementary material The online version of this article
(https://doi.org/10.1007/s00431-017-3085-7) contains supplementary
material, which is available to authorized users.
* Evi Germeni
evi.germeni@glasgow.ac.uk
1
Health Economics and Health Technology Assessment (HEHTA),
Institute of Health and Wellbeing, University of Glasgow, 1 Lilybank
Gardens, Glasgow G12 8RZ, UK
2
Institute of Communication and Health (ICH), Faculty of
Communication Sciences, Università della Svizzera Italiana,
6900 Lugano, Switzerland
3
Pediatric Department of Southern Switzerland, Ospedale San
Giovanni, 6500 Bellinzona, Switzerland
4
Faculty of Biomedical Sciences, Università della Svizzera Italiana,
6900 Lugano, Switzerland
European Journal of Pediatrics (2018) 177:489–495
https://doi.org/10.1007/s00431-017-3085-7
Reconstructing normality following the diagnosis of a childhood chronic
disease: does Brare^ make a difference?
Isabella Vallini
isavallini@msn.com
Mario G. Bianchetti
mario.bianchetti@usi.ch
Peter J. Schulz
peter.schulz@usi.ch
@Phil_Robichaud
@deepthiw
@JoseServera