Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience

Abstract

Background CLN3 disease is a neurodegenerative condition presenting in the first decade of life typically leading to death in the third decade. The earliest symptom is rapidly progressive visual impairment followed by intellectual and motor impairments, epilepsy and behavioural disturbances. There are limited data on how the condition affects the family system or the role of family resilience in paediatric neurodegenerative diseases. Methods Semi‐structured interviews were conducted with eight parents (five mothers and three fathers) of five children with CLN3. Interview questions focused on the experience of having a child with CLN3, its impact on the family system as well as the concept of family resilience. Data were analysed via thematic analysis. Results The thematic analysis resulted in four main themes. The theme ‘recurring losses’ included the feeling of losing a healthy child, the child's loss of abilities and loss of relationships. The theme ‘disruption to the family system’ included that siblings could be ‘side‐lined’, the potential negative impact on romantic relationships and difficulties finding time to oneself. The theme ‘Society is not developed for a progressive disease’ highlighted the difficulties parents faced with respect to contacts with the health and/or social insurance system. The paediatric health care system was seen as supportive, but the adult health care system was not seen as fit for the purpose. Regarding family resilience, parents felt that the disease forced them to reconsider what was important in life. Several parents described that they learned to value small moments of joy and create deep connections through involvement in family routines and rituals. Conclusions CLN3 places a very significant burden on the family system including parental feelings of loss, impact on family relationships and lack of understanding within the health/social insurance systems. The concept of family resilience may be useful in understanding the experiences of families affected by paediatric neurodegenerative conditions.

Fathers' experiences of living with a child with a progressive life‐limiting condition without curative treatment options: A qualitative systematic review

“…Having a child with a C3 condition could make them fall between two stools, and they had to arrange meetings with appropriate personnel to receive, for example, respite care (Davies et al, 2004;Steele, 1999;Ware & Raval, 2007;Wood & Milo, 2001) Being shattered in their perception of fatherhood revealed aspects of anticipatory mourning when fathers grieved over losses associated with the progression of their child's life-limiting condition (Rando, 1988(Rando, , 2000. The anticipatory mourning reactions seem to be consistent with findings in previous studies exploring parents' experiences within PPC (Fisher et al, 2021;Hurley et al, 2021;Krantz et al, 2022;Postavaru et al, 2020;Price et al, 2022). In our review, we found that most fathers felt a heightened feeling of love towards their child, which brings to light Rando's (1988) anticipatory mourning theory of being drawn closer to the dying patient.…”

“…child, family-centred care, fathers, hospice and palliative nursing, life-limiting conditions, male, paediatric palliative care, palliative care, parents, qualitative research Siden, 2018). In addition, parents report increased financial costs (Brandt et al, 2022), strain on relationships (Krantz et al, 2022;Postavaru et al, 2020) and various emotions, such as uncertainty, chaos, sadness, loneliness and grief (Bally et al, 2018). It has also been found that parents express grieving throughout the trajectory of their child's disease, especially at the time of diagnosis and when the child progressively loses functions (Fisher et al, 2022;Price et al, 2022).…”

“…Parents of children with life‐limiting conditions bear a heavy responsibility for the child's daily care (Brandt et al, 2022), leading to physiological and psychological exhaustion and the risk of reduced physical health, increased pain and sleep disturbance (Pawliuk et al, 2020; Siden, 2018). In addition, parents report increased financial costs (Brandt et al, 2022), strain on relationships (Krantz et al, 2022; Postavaru et al, 2020) and various emotions, such as uncertainty, chaos, sadness, loneliness and grief (Bally et al, 2018). It has also been found that parents express grieving throughout the trajectory of their child's disease, especially at the time of diagnosis and when the child progressively loses functions (Fisher et al, 2022; Price et al, 2022).…”

How parents of children with ataxia‐telangiectasia use dynamic coping to navigate cyclical uncertainty

“…The literature lacks specific information about many rare diseases, potentially due to the limited number of available participants or lack of funding, which are often by-products of rarity (Baumbusch et al, 2019;Gómez-Zúñiga et al, 2019;Pelentsov et al, 2016). Parents in our study reported wishing for information that would help set expectations about prognosis and progression, which has also been seen in studies about other rare diseases (Baumbusch et al, 2019;Jacobs et al, 2019;Krantz et al, 2022;Pelentsov et al, 2016;Webster, 2019). On the other hand, the variability of A-T and sparse information available occasionally ameliorated worries about the future.…”

“…Though many parents found their role rewarding and fulfilling, they also described how their level of involvement in their children's care resulted in difficulties finding time for social interactions, time alone or times where their mind could relax. This phenomenon has also been described in parents of children with other complex conditions (Collins et al, 2020;Currie & Szabo, 2019b;Krantz et al, 2022;Pelentsov et al, 2016), though A-T being rare, progressive, and life-limiting posed unique challenges to A-T parents' experiences. Suggestions from the literature to alleviate parental responsibilities include having a care coordinator, such as a nurse navigator, available to parents of children with rare diseases (Anderson et al, 2013;Currie & Szabo, 2019a).…”