Impact of newborn screening on families in the case of Pompe disease

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder

“…Treatment offered to children was embroiled with uncertainty, often experimental with an unknown outcome 75,78,83 …”

“…I get very stressed out sometimes, to the point where I just what to cry all day long’, 73 (p. 79). Alongside the devastation felt in relation to the diagnosis of a LSD, admissions of guilt associated with the impact of the condition on the child's future were also expressed 73,78,81–83 …”

“…Diagnosis for LSDs is often long and uncertain, explored specifically in MPS and Pompe 78 , 81 , 83 : ‘It was a really, really long time from first ever hearing anything to getting any kind of real diagnosis’. 83 (p. 1191). For some, the wait to receive a diagnosis was stressful and the rarity of the conditions often left families feeling unheard and in search of answers.…”

“…Treatment offered to children was embroiled with uncertainty, often experimental with an unknown outcome. 75 , 78 , 83 : ‘They are learning as they go. Every baby is almost like an experiment’, 83 (p. 1192).…”

“…Alongside the devastation felt in relation to the diagnosis of a LSD, admissions of guilt associated with the impact of the condition on the child's future were also expressed. 73,78,[81][82][83] The associated physical and behavioural symptoms placed a significant burden on emotional wellbeing. Families often felt that they felt powerless, lacking control over the condition, 71,73,78,81 exacerbated by the progressive nature of the condition, increasing parental worry and distress 71 : 'It is a constant worry … and you just feel like your life is trapped', 78 (p. 7).…”