Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.

Individuals with severe combined immunodeficiency (SCID), a group of rare, genetic conditions, are at risk for life-threatening illnesses unless diagnosed and treated early. 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. This paper explored the types of uncertainties experienced by parents of a child with SCID diagnosed through newborn screening. We conducted semi-structured interviews with 26 parents to discuss the types of uncertainty experienced, including scientific, practical, personal, and existential. Each interview was recorded, transcribed, and coded. Using deductive and inductive content analysis, we describe the type of uncertainty experienced across each stage of the SCID journey. We found that uncertainties in the SCID journey were chronic and multifaceted. Some uncertainties were more prominent at certain points of the journey whereas others spanned multiple stages. 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.

Parental coping with uncertainties along the severe combined immunodeficiency journey.

BACKGROUND: Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their child's diagnosis, treatment, recovery, and quality of life. To fully understand parents' experiences throughout their SCID journey, it is important to explore the stressors generated by such uncertainties and how parents cope with these stressors. METHODS: We conducted 26 in-depth interviews with parents whose child was diagnosed with SCID or a SCID-like condition through newborn screening. The interviews explored uncertainties related to their child's diagnosis and how parents coped with these uncertainties. Transcripts were generated from the interviews and analyzed using an inductive content analysis approach which included data immersion, generation and assignment of codes, and interpretation. RESULTS: Parents used a variety of behavioral, cognitive, and affective coping strategies which evolved throughout their SCID journeys. Some parents reported coping by playing an active role in their child's treatment, which included reaching out to other SCID parents or seeking second medical opinions. Other types of coping included establishing house hygiene rules, thinking positively about the child's treatment progress, and relying on family members for help. These coping strategies were both deliberate and intuitive. Participants also described their struggles in coping with stressors related to their child's health and survival. They reported difficulty in processing their emotions and experiencing denial and guilt related to their child's diagnosis. Some parents adapted to ongoing uncertainties through such strategies as positive thinking, self-reflection, and relying on family and community. With successful adaptation, parents emphasized that they continue to use these strategies today. CONCLUSION: Our assessment revealed that parents of children diagnosed with SCID use a variety of behavioral, cognitive, and affective approaches to cope with SCID uncertainties. Although parents reported challenges in coping with SCID uncertainties, they also reported finding ways to overcome these stressors and establish patterns of effective coping. Findings from our study can serve as a guide for parents whose child was newly diagnosed with SCID and for providers such as social workers, genetic counselors, and psychologists.

Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers.

Background: Severe combined immunodeficiency (SCID) is a group of life-threatening genetic disorders responsible for severe dysfunctions of the immune system. Despite the expansion of newborn screening in the U.S., there are gaps in healthcare providers' knowledge of SCID. Methods: We recruited 277 U.S. healthcare providers for an online survey. The survey assessed providers' experience with SCID patients, knowledge about SCID, and needs and preferred formats for SCID-related informational resources. We examined differences between providers who have seen 2 or more patients with SCID (SCID provider group) and those who have seen 0-1 SCID patients (non-SCID provider group). Results: Overall, 210 (75.8%) providers were included in the non-SCID provider group, and 121 (57.6%) of these providers were pediatricians. Compared to the SCID provider group, non-SCID provider group reported lower mean rating of SCID knowledge (x̄ = 4.8 vs. x̄ = 8.6, p < 0.0001) and higher informational needs. The largest informational needs identified by the non-SCID provider group were "understanding specific type of SCID" and "understanding what to expect across the lifespan." In the SCID provider group, the highest rated informational need was "family support referrals." Participants in the non-SCID provider group identified scientific publications and websites as preferred formats, with some variation between medical specialties. Conclusion: Based on their experience with treating SCID patients, providers have varying levels of SCID knowledge and different informational needs. For providers who have encountered few SCID patients, informational needs start early, usually immediately after receiving a positive newborn screening result. These findings provide useful direction for the development and preferred outlets for receiving SCID-related information, with some variations between different types of providers. Results from this study will serve as a guide for creating relevant and accessible SCID resources for providers who can utilize them to improve care for SCID patients.