Parental coping with uncertainties along the severe combined immunodeficiency journey

Abstract

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.

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

“…Similarly, parents of children with other chronic conditions described uncertainty as evolving as they adapted to the diagnosis, its impact on daily life, and, for some, the cyclical nature of the condition [ 10 , 27 , 28 ]. These results highlight the importance of supporting parents of children with SCID throughout their journey in order to help them cope with the uncertainties they experience [ 20 ].…”

“…We also include parents’ responses to these uncertainties. Elsewhere, we describe how parents coped with these uncertainties [ 20 ]. Understanding the range of uncertainties that arise at different points of this journey is a critical task in meeting the needs of parents of children with this rare genetic disorder.…”

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

“…Studies reported parental anxiety, confusion, and stress upon receiving positive screening results. 23 , 24 An optimum information should be given during the referral procedure, and a follow-up consultation should be provided. Communication scripts could help if primary care providers are allocated to do the first contact, as shown in Supplemental Figure 1 .…”