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Study Looks at Parent Uncertainties After Children's Severe Combined Immunodeficiency Diagnoses

A paper appearing in the European Journal of Human Genetics focuses on parental uncertainties, and responses to them, after their children were diagnosed with rare severe combined immunodeficiency (SCID) conditions through newborn screening. For the qualitative study, a team from RTI International, the Immune Deficiency Foundation, and the National Cancer Institute performed a series of semi-structured interviews with 26 parents of children diagnosed with SCID, including interviews done at diagnosis, at the time of treatment, or after treatment. Based on responses from 21 mothers and five fathers participating in the study, the researchers tallied the types of uncertainty — ranging from personal or existential considerations to scientific or practical issues — and saw shifting uncertainties at diagnosis, treatment, and beyond. "Some uncertainties were more prominent at certain points of the journey whereas other spanned multiple stages," the authors report. "Parents expressed a variety of negative emotional reactions to uncertainty, from anxiety, worry, and fear, to doubt, guilt, or grief, and even anger, frustration, and depression. The results speak to the need for healthcare providers to prepare parents for the SCID journey by providing resources to help manage and cope with uncertainty."