Krabbe Disease
https://www.sciencedirect.com/science/article/pii/S1096719225002264
Newborn screening (NBS) helps identify rare conditions soon after birth, including a group of genetic diseases called lysosomal storage disorders (LSDs). A positive NBS result does not always mean a child is ill; it can also indicate carrier status, harmless “pseudodeficiency” variants, or uncertain results that may never lead to symptoms. This study explored how parents react emotionally after receiving a positive NBS result for one of four LSDs: Fabry disease, Krabbe disease, MPS I, or Pompe disease. The researchers followed 130 parents either after screening or several years later. Surveys measured uncertainty, anxiety, intrusive thoughts, and how vulnerable parents felt their child’s health might be. Additionally, interviews provided deeper insight into families’ experiences, for example many parents reported anxiety and uncertainty during the waiting period for confirmatory testing. These feelings generally improved once results were explained and families had time to process them. However, a key finding was that some parents continued to worry long after testing was complete, even when their child was confirmed healthy. Parents of children with carrier or pseudodeficiency results often showed levels of anxiety and perceived vulnerability similar to parents of children with true or uncertain diagnoses. Some continued to question their child’s health during common illnesses or milestones. These results suggest that positive NBS results for LSDs can have emotional impacts for a subset of families. The study highlights the importance of clear communication, access to genetic counselling, and efforts to reduce false positives so families can understand results and feel supported in the process.