FV 300. Living with Severe Rare Chronic Neurological Disease in Childhood: Family Burden and Quality of Life in Families with MLD and PCH2

Background: For metachromatic leukodystrophy (MLD) and pontocerebellar hypoplasia type 2 (PCH2), we have been able to systematically describe symptoms and course of disease in recent years. However, the family burden from these severe chronic neurological diseases has hardly been studied. Both diseases have in common that they are rare and severe childhood neurological disorders, with the difference that PCH2 is associated with a primary severe developmental disorder, while children with MLD initially develop normally and then progressively deteriorate.

Objective: The aim of this study was to investigate the impact of the child’s severe chronic neurological disease on families, especially on quality of life and career prospects of parents, but also on healthy siblings.

Research Question: What does the chronic neurological disease of the child mean for the quality of life of the parents, for their life perspectives, for the everyday life of the families?

Methods: The parents of 43 families with children suffering from MLD (n = 28) or PCH2 (n = 19) were interviewed on the basis of a semistandardized questionnaire. The quality of life of parents and general family functioning was assessed by the PedsQL family impact module (Varnie et al, 2004). In addition, the parents reported data for each child (n = 47) on the severity of the illness/symptoms, aspects of the diagnosis, the support of the family, and the care situation, as well as the situation of the nonaffected siblings and the parents’ work situation.

Results: The overall and health-related quality of life of parents of both children with MLD and PCH2 was significantly reduced (p < 0.001) compared with previously published data from parents with healthy children, as well as their family functioning (p < 0.001). There were marked differences between mothers and fathers. In general, mothers reported a significantly worse quality of life than fathers. In terms of career development, mothers were significantly more dissatisfied than fathers, both in the MLD (p = 0.027) and PCH2 (p = 0.011) families, and this was related to their child’s disease.

Conclusion: This study illustrates that MLD and PCH2, being severe, rare chronic neurological disorders in childhood, affect the entire family system and the life prospects of family members. Mothers and fathers are affected partly in different ways. Parents and families would benefit from personalized care and counseling due to the multiple challenges of living with a child with a severe chronic neurological disorder.