Of the 43 parents who met the inclusion criteria, only 21 parents (four males, 19.04%). The mean age of the participants was 41.9 years (SD: 3.5). Three main themes were identified (Fig. 1). Narratives from participants, drawn directly from the interviews, have been included in the description of each theme in relation to the emerging themes (Supplementary file 1).
Theme 1. Coping with conflicts and changes in the couple related to the child's disorder.
The parents described how the disease generated conflicts and tensions within the couple, distancing themselves from their partner and in some cases leading to separation. In other cases, the mutual support that emerged between the couple helped them to stay together. In these cases, parents described how it enabled them to grow as individuals, strengthening the couple.
The child's condition led to important changes in the couple's relationship because the parents focused all their time and effort on caring for the sick child, drastically reducing the time for leisure activities together, such as watching a movie, talking, or sharing moments of intimacy. Our participants described the loss of intimacy within the couple, as one parent often slept with the child for fear of an epileptic seizure or because the child cannot sleep alone. Some parents described that in addition to the loss of intimacy, it also affected their independence and autonomy, as they needed to constantly supervise their child.
Another change was related to family planning. The parents described how their child's disorder influenced their plans for conceiving another child. Thus, some couples underwent testing and sought the advice of physicians specializing in genetic disorders. As a result, some couples decided not to risk having a new child, while others felt confident considering a new pregnancy. Having a sibling was perceived as a positive event which would help their child with DEE. In contrast, other couples did not consider expanding the family because of lack of time, lack of care resources, and the financial cost involved.
Theme 2. Impact of the disease on siblings and grandparents
In those families with multiple children, parents described how the disease also conditioned the lives of siblings from very early stages. Despite this, parents made efforts to ensure that siblings were not limited by their other child's DEE. Parents described that caring for the sick child sometimes resulted in neglecting the other siblings in aspects such as their education, or helping them with their homework. The parents were aware that the siblings needed extraordinary educational support.
Moreover, our participants described how the disease could cause the siblings of their children with DEEs to mature prematurely and feel lonely. Despite this, parents described that the relationship between siblings was good, highlighting the love and affection between them and the care that the siblings provided to the sick child. However, the parents expressed concern regarding their hope that their child with DEEs would not become an excessive burden or sacrifice for the rest of the siblings.
DEEs also had effects on grandparents. Our participants were concerned about the suffering experienced by grandparents when they saw their sick grandchild and the impact of the illness on the parents and the rest of the family. Parents noted how some grandparents tended to downplay the grandchild's illness, while others found it difficult to come to terms with the illness. Frequently, the grandparents became the sole support for the parents, collaborating with care as much as possible, dependent on their own health status. Our participants recounted how, at times, the grandparents worried so much about the grandchildren that their own health condition and chronic illnesses worsened.
Theme 3. Balancing childcare, family life and work
Within the family setting, the participants described how dedication to their children was constant, limiting family activities, such as leaving the house for a walk and/or eating out. This intensive care caused parents to feel that they were "sacrificing their time" to devote themselves to their children. Moreover, some couples distributed activities and care, so that at least for a time, one of them enjoyed leisure activities with friends, while the other cared for the child. The disorder forced many couples to share the distribution of household tasks, describing their relationship as "that of a business partnership". In addition, parents found it difficult to hire caregivers for their child, as DEEs are a rare disease that generates rejection. The lack of caregivers further limited leisure activities as a couple. In addition, the parents reported that they did not have enough support from the family when it came to relieving the strain of caring for their children.
In terms of employment, it was common for one of the parents to quit their job to focus on caregiving. In other cases, there was a reduction in working hours. Parents also highlighted the benefits of enjoying parental leave in the public sector for childcare. In contrast, in the private sector, work shifts for childcare were not facilitated, which eventually led to the parent quitting the job or being fired. Finally, some parents were unaware of existing public subsidies to reconcile childcare and work.