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

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. 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. Electronic supplementary materialThe online version of this article (10.1007/s00431-017-3085-7) contains supplementary material, which is available to authorized users.

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

“…Our study found that changes in the caregiver's perception of their family life was a common coping strategy to minimize the emotional impact of ZSD. This strategy, particularly redefining what the “normal” parenting experience means, has been reported in other rare pediatric diseases as well [7,28]. Identifying this cognitive change may be useful in the development of resources to help facilitate this change of mindset.…”

“…Studies in chronic pediatric disease have highlighted the relationship between caregiver stress and patient outcomes (as reviewed in [5]). Recently, several studies have sought to identify the challenges and barriers faced by caregivers in the rare disease community [[6], [7], [8], [9], [10], [11]]. For ZSD caregivers, however, information on their emotional status in relation to disease impact, in addition to their management and coping strategies to deal with personal and familial emotional stress, remains unknown.…”

The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions

“…Other studies underline that parents must assume the role of ‘expert’ (Brewer et al, 2008; Pelentsov et al, 2015), since the rarity of the disease can increase the likelihood that professionals are not specifically competent in the subject matter. The diagnosis represents a turning point that could enable families to start adjusting to their new normality (Germeni et al, 2018), but this moment often requires a long period of time. Furthermore, being parents of a child with a rare disease has been shown to have profound implications on the physical and psychological health of the parents, particularly among mothers, and to negatively influence one’s relationship with his/her partner (Pelentsov et al, 2015).…”

“Life Is Taking Me Where I Need to Go”: Biographical Disruption and New Arrangements in the Lives of Female Family Carers of Children with Congenital Zika Syndrome in Pernambuco, Brazil

“…However, when this child is born with an obvious severe disability then the impact is essentially different to the impact of having a child without a disability. Women recounted that the moment the disability was diagnosed, and the way in which this diagnosis was given to families had a fundamental impact on how the family understood the medical aspects related to the disability and how they prepared to meet the future challenges related to the child’s complex health and care needs [ 37 , 38 , 39 ].…”