Abstract
BACKGROUND: Cystic Fibrosis Transmembrane Conductance Regulator Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) describes children with a positive newborn screen for whom follow-up tests neither confirm, nor definitively rule-out, a CF diagnosis. Many are healthy carriers, but some will reclassify to a CF diagnosis; the natural history is not yet well understood. In children with chronic illnesses, unpredictable disease process and limited knowledge of long-term consequences present significant challenges to parental mental health. We wanted to understand the emotional wellbeing of parents with children with CRMS/CFSPID to guide the mental health support offered within the service. METHODS: Parents were invited to complete validated depression and anxiety screening questionnaires and answer an open-ended question in writing or during a short interview. Qualitative responses were transcribed and analysed using thematic analysis. RESULTS: Thirteen parents from nine families completed questionnaires and/or the interview. Two of the mothers had mildly raised scores on the questionnaires. Our interviews revealed five themes: difficulty adjusting to the label; concern about the future and its uncertainty; fluctuating states of anxiety; difficulty explaining the label; and satisfaction with the CRMS/CFSPID service. CONCLUSION: Our data reveal benign scores using objective screening tools, but the qualitative data paints a picture of potentially more significant impact on emotional wellbeing. We recommend screening parents from the time their child receives the label, and later the children themselves, for depression and anxiety and signposting to existing resources. Ultimately, a better understanding of the CRMS/CFSPID trajectory may enable us to better support families.