Impact of Children With Rare Diseases on the Family

RATIONALE: Although studies on the natural history and clinical features of children with Barth syndrome (BTHS) and congenital muscular dystrophy (CMD) are increasing, few studies have explored how a child’s disease relates to parent quality of life (QOL) and family functioning. Therefore, the purpose of this study is to examine the relationship of a child’s functional ability, family cohesion, and health care satisfaction to parent QOL and family functioning in families of children with rare diseases. By investigating the factors affecting families, this study will broaden understanding and contribute to building an evidence-based approach for these families.

METHOD: A cross-sectional design was used in this study. The target population was parents who have children between the ages of 5 and 19 with BTHS (n = 20) and CMD (n = 20; total n = 40). Also, parents of age-matched unaffected children (n = 40) participated in this study.

A total of five instruments were used for this study. Parent QOL and family functioning were determined using the PedsQL™ Family Impact Module. The Modified Barthel Index was used to assess the child’s functional ability. Family cohesion and demographic information were measured using the Family Adaptability and Cohesion Evaluation Scale–IV and a demographic information form, respectively. Health care satisfaction was measured using the PedsQL Healthcare Satisfaction Generic Module.

All of these instruments were completed by parents in either pencil-and-paper version or an online version using the UF Qualtrics system. Regression was conducted to determine the relationship of a child’s functional ability, family cohesion, and health care satisfaction with parent QOL and family functioning in the rare disease group. Also, to compare the impact of a child’s functional ability and family cohesion on parent QOL and family functioning between the two groups, an interaction term was examined using the residual centering approach.

RESULTS: In the regression analysis for the rare disease group, both the child’s functional ability and health care service satisfaction were significantly related to parent QOL and family functioning (p < .05). However, family cohesion for the rare disease group was not significantly associated with parent QOL and family functioning (p > .05). Moreover, the impact of a child’s functional ability and family cohesion on parent QOL and family functioning was not significantly different between the rare disease group and the unaffected group (p > .05).

DISCUSSION: Parents who have a child with a lower physical functioning demonstrated lower parent QOL and family functioning. The finding suggests that having a child who is not able to independently engage in physical activities places additional time constraints on other family plans and household tasks and generates conflict and tension among family members. Also, family cohesion was not significantly related to parent QOL and family functioning. This contradicted not only previous studies, but also the hypothesis in this study that parents with better family cohesion will experience a higher parent QOL and family functioning. The findings from the health care satisfaction questionnaire suggest the need for the family-centered approach for providing health care services, which would provide care for both the child with a disability and the child’s family.

IMPACT STATEMENT: This study seeks to broaden the knowledge regarding how child, family, and health care satisfaction relate to parent QOL and family functioning in families of children with rare diseases. Furthermore, this study may contribute to building an evidence-based approach and providing diverse therapy options for children with rare diseases and their families.