1. Introduction
Despite an increasing interest in patients with rare diseases over the last few years, parents as the caregivers of affected children have received little attention within the healthcare system and in healthcare research. Rare diseases are defined as diseases affecting less than one in 2000 people [
1] and are characterized by a severe, chronic, often degenerative and life-shortening course as well as limited treatment options and a loss of independence in everyday life [
2]. Therefore, rare diseases in childhood and adolescence have a tremendous impact on the psychosocial situation of all family members, since they demand a high level of care and disease management by the affected families [
3]. Given the severity of most rare diseases and the number of people affected by them, their importance in health care is considerable [
4]. In particular, mothers of children with rare diseases face long-term challenges and major sacrifices including social isolation and financial adversity as they mostly take the main caregiving role [
5,
6,
7]. It is therefore not surprising that mothers and fathers of children with rare diseases experience different levels of stress that may lead to negative psychosocial outcomes in accordance with their gender [
8].
Given the aforementioned factors, the Caregiving Process and Caregiver Burden Model provides a multidimensional framework that describes the caregiving burden of parents of children with chronic conditions [
9]. This model incorporates previous frameworks that explored the mechanisms behind caregivers’ physical and psychological health [
10,
11,
12], the latter including constructs such as quality of life (QoL) and mental health. The concept of QoL is described as “the individual’s perception of their position in life in the context of the culture and value systems in which they live, in relation to their goals, expectations, standards and concerns” [
13]. The definition of mental health, on the other hand, comprises the “flexibility and ability to cope with adverse life events and function in social roles” [
14]. According to the Caregiving Process and Caregiver Burden Model, psychological health is directly influenced by supportive factors, which include coping, social support and family functioning [
9]. These factors have been confirmed primarily in caregiving mothers of children with cerebral palsy [
15].
Evidence suggests that long-term caregiving for children and adolescents with rare diseases is associated with impairment in psychological health [
3,
16]. Among parents, those caring for rare disease-afflicted children and adolescents requiring mechanical long-term ventilation may be especially burdened [
17,
18]. The impairment of mental health in these parents is considerably high due to fears, insecurities and worries about the child’s life [
19]. As a result of the enormous physical and psychological efforts by the parents, quite often mental health issues develop [
17]. Not surprisingly, studies have found that parents caring for patients with mechanical long-term ventilation are at high risk of clinical depression [
20,
21]. Moreover, caregivers of technology-dependent children have been found to have a higher prevalence of depression and lowered QoL [
20].
Resources and behaviors of parents that may play an important role in adjusting and adapting to the demands of caring for technology-dependent children include coping, social support and family functioning. In previous research, social support, was found to be a protective factor for psychosocial health outcomes in parents of technology-dependent children [
20,
21]. Moreover, family functioning has been significantly associated with symptoms of depression [
22,
23]. Coping mechanisms as important supportive factors for psychosocial outcomes in parents of technology-dependent children were only addressed briefly in previous research [
21]. Although a gender-specific reaction regarding the perceived stressors may be expected, the experience of fathers has largely been neglected in the literature. As previous studies on caregivers with technology-dependent children put the emphasis on female rather than male caregivers, the specific psychosocial needs of fathers have not been explored sufficiently in this study population [
17,
20,
21].
While it is obvious that caring for a child with a rare disease is a major challenge for affected parents, there is little quantitative research on this subject. In order to improve psychosocial support for parents caring for children and adolescents suffering from rare diseases that require mechanical long-term ventilation, it is essential to better understand various aspects and influencing factors of QoL and mental health. Since research remains biased towards focusing on mothers as caregivers of rare disease-afflicted patients, a focus on gender comparison between parents was set [
8]. Moreover, in contrast to previous research, this study examined parents of children with a heterogeneous group of rare diseases embedded in a theoretical framework, using validated instruments. The following research questions were addressed:
Are there differences in the distribution of QoL and mental health between mothers and fathers caring for children and adolescents with rare diseases requiring mechanical ventilation?
Is there a significant association between coping and supportive factors and the psychosocial outcomes of QoL and mental health of affected parents?
In this regard, the following hypotheses were tested: (a) QoL and mental health are significantly lower in mothers than in fathers of rare disease-afflicted children; (b) there are significant differences between affected mothers and fathers regarding their coping mechanisms, social support and family functioning; and (c) general coping, social support and family functioning are significant predictors for QoL and mental health in parents of rare disease-afflicted children.
4. Discussion
Since rare diseases have a severe impact on patients and families, it is important that decisions regarding health services are based on data obtained from the affected families and children themselves [
35]. The assessment of QoL and mental health of parents caring for children with rare diseases is therefore particularly valuable in customizing further support. Consequently, the present study explored QoL and mental health of parents caring for rare disease-afflicted children requiring mechanical long-term ventilation and supportive factors of the respective constructs.
Findings indicate that in families caring for children with rare diseases requiring long-term ventilation, mothers have significantly lower global QoL in comparison to their male counterparts. This is in line with previous research on parents of children with chronic diseases [
36,
37,
38,
39]. Although mothers had lower scores in most of the subscales compared to fathers, a significant difference could only be found for the well-being scale, which assesses perceived discomfort in the areas of physical activity and dejection. A possible explanation may be that mothers of children with a rare disease requiring long-term ventilation are the main caregivers of their children, leading to impairment in personal and professional life.
With regards to parental mental health, mothers reported significantly higher overall psychological distress in comparison to fathers, which is in line with previous findings on mental health of parents of chronically ill children [
40,
41]. Moreover, mothers reported higher psychological distress in all subscales. A more nuanced view of the mental health subscales shows that mothers compared to fathers showed significantly higher scores in the somatization, obsessive-compulsive, interpersonal sensitivity, depression, anxiety and hostility subscales. These findings correspond to the findings that close to a third (31.2%) of the affected mothers showed clinically relevant emotional distress, whereas only more than a tenth (13.2%) of the fathers showed this. The findings on the respective constructs demonstrate that the emotional burden of the child’s illness is more noticeable in mothers than in fathers. Therefore, these results on parental QoL and mental health confirm our first hypothesis.
Regarding protective factors, mothers in comparison to fathers showed significantly greater use of overall coping mechanisms. Moreover, the maintaining family integration and understanding the health care situation coping mechanisms were significantly more used by mothers than fathers. No other differences between affected mothers and fathers could be found regarding the remaining protective factors. These findings on the mothers’ greater use of coping mechanisms may be a consequence of the heightened burden due to the extensive caregiving required by the child’s disease. This goes along with a study that found the same gender differences in the use of coping strategies in parents of children with chronic renal failure [
36]. Significant correlates of QoL and mental health in mothers were overall coping mechanisms, social support and family functioning, whereas in fathers only family functioning was associated with the respective outcomes. The second hypothesis on adaptive coping mechanisms can therefore solely be confirmed for the affected mothers. In particular the strong associations between the main outcomes QoL and mental health and the predictor family functioning in affected parents is in accordance with previous research, showing that better family functioning is associated with better parental mental health [
21,
22].
In the multiple regression analyses, family functioning was identified as a risk factor for mothers’ and fathers’ QoL, while also being a significant risk factor for mental health in mothers. This not only corresponds to the Caregiving Process and Caregiver Burden Model [
9] but can also be found in a previous study on caregivers of technology-dependent children [
20]. These findings suggest that family functioning may play a central role in the psychological health of affected caregivers. Therefore, healthcare providers working with families of children with rare diseases should support and care for the family as a whole in a family-based intervention approach. Besides family functioning, age of the child was found to be a significant predictor of QoL in mothers, with QoL increasing with age. In addition, the child’s current or prospective dependency on mechanical long-term ventilation was found to be a significant predictor of mental health in fathers, with higher psychological distress associated with the child’s dependency on mechanical long-term ventilation. Social support was found to be the only significant predictor of mental health in mothers. In previous studies, similar findings have been found. Social support was found to be the only significant predictor of mental health in mothers. In previous studies similar findings have been found, with mothers caring for ventilator-assisted children at home reporting greater social support, the lower the depression rate [
21]. In summary, it seems that the key mechanism for psychological health outcomes in parents of children with rare diseases may be the family unit, whereas protective factors like social support and coping mechanisms may only play a secondary role. These findings are in concordance with a study that verified the Caregiving Process and Caregiver Burden Model in mostly female caregivers of children with cerebral palsy [
15]. The third hypothesis can therefore only partly be confirmed in this study population.
These findings also highlight a difference in caregiver burden between mothers and fathers. This may be explained by the fact that the caregiving role in this study population was very traditional, with over 70% of mothers having predominantly taken over the primary caregiving of the afflicted child. This might explain the gender differences in the associated stressors of having a child with a rare disease.
Study Limitations
There are some limitations to consider with this study. Even though the heterogeneity of rare diseases may be limited in this small sample, the only consistent characteristic being the children’s current or prospective dependency on mechanical long-term ventilation, the study sample does represent severe somatic diseases, all of which are associated with a particularly high need for care and a high level of disease management. Moreover, the study group represents a sample challenging to recruit. Patients were recruited at two institutions in northern Germany; thus, a transfer of results to countries with differing health care systems should only be done with caution. In light of these limitations, the results of this study should be considered preliminary. A replication of these results through international and longitudinal research studies seems desirable.