This journey begins with a positive newborn screen for SCID and a confirmed diagnosis, and continues through the pre-treatment stage, which includes deciding on the most appropriate treatment option and possibly undergoing pretreatment conditioning (i.e., chemotherapy and/or immunosuppressants). Similarly, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. Even after a diagnosis is received, parents of children with rare disorders live with other uncertainties related to the long-term outcomes for their child and the impact on their family. Although newborn screening alleviates the search for a diagnosis, it is not unusual for parents to experience increased anxiety and uncertainty as they wait on confirmatory testing results.

Parents of children with a rare disorder often experience a diagnostic odyssey which is marked by high levels of stress and uncertainty. Newborn screening has improved the clinical prognosis for children with SCID, with 92% of infants surviving after treatment. Given that SCID is considered a medical emergency and treatments have been shown to significantly reduce morbidity and mortality, all states now screen newborns at birth for the condition. Individuals with SCID are at risk for life-threating illness unless diagnosed and treated early, typically with a hematopoietic stem cell transplant or, with some variants, gene therapy. Severe combined immunodeficiency (SCID) is a group of rare, genetic conditions characterized by a decreased amount or absence of T-cells, which results in a lack of a functioning immune system. 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. 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. Some uncertainties were more prominent at certain points of the journey whereas others spanned multiple stages. We found that uncertainties in the SCID journey were chronic and multifaceted. Using deductive and inductive content analysis, we describe the type of uncertainty experienced across each stage of the SCID journey. Each interview was recorded, transcribed, and coded. We conducted semi-structured interviews with 26 parents to discuss the types of uncertainty experienced, including scientific, practical, personal, and existential. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening. Even after early identification through newborn screening, parents of children with SCID embark on a complex journey marked by a variety of informational and emotional support needs. Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early.

What groups are more affected by scid