Having a child with a lysosomal storage disorder (LSD) can have a significant psychosocial impact on the parents, according to a new study published in the Journal of Inherited Metabolic Disease. Therefore, it is imperative to support and monitor parents’ adjustment to their condition and mental health.
“When considering the time that parents spend caring for their child due to the physical and behavioural demands, the disruption to parents’ lives is unsurprising and often continues into adulthood,” the authors said.
The study analyzed data from 23 quantitative, 10 qualitative, and 5 mixed methods studies. In most studies (n=29), children had a diagnosis of mucopolysaccharidosis, followed by Batten disease (n=3), Pompe disease (n=3), Gaucher disease (n=1), alpha-mannosidosis (n=1), cystinosis (n=1), and Niemann-Pick disease (n=1).
Parents said they experience depression, anxiety, stress, post-traumatic stress disorder, and alterations in quality of life. The impact on parents’ working lives was also obvious, particularly for mothers, who reported loss or change to employment more commonly than fathers.
Parents with children with LSDs also reported having an affected family system, with poor family cohesion and deterioration in family relationships being referred by parents. The family impact seems to increase with the severity of the condition.
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Waiting for a diagnosis, which can be a long and uncertain process, is described as stressful. The communication of a diagnosis may provide a sense of relief, but is often followed by frustration due to the lack of information and guidance on rare diseases. Fear of an unknown future, particularly in what concerns treatment success, is also common.
“Shared connections with other families who can relate to the difficulties that families face, maintaining hope and positivity and focusing on the present wellness of their child provided families with some coping mechanisms,” the authors said. Also, further research is needed to help identify ways to support parents of children with LSDs.
Hassall S, Smith DM, Rust S, Wittkowski A. A systematic review and integrative sequential explanatory narrative synthesis: the psychosocial impact of parenting a child with a lysosomal storage disorder. J Inherit Metab Dis. Published online February 6, 2022. doi:10.1002/jimd.12482