Instant Inclusion: In-depth Analysis of Uncertainties Experienced by Parents of Newborns with Severe Combined Immunodeficiency

Research Background

Severe Combined Immunodeficiency (SCID) is a rare and potentially fatal genetic disorder. Without timely diagnosis and treatment, patients face life-threatening conditions. In recent years, early identification of SCID through newborn screening has significantly improved clinical outcomes for children, offering parents a ray of hope. However, along with early diagnosis, parents embark on an unfamiliar and complex journey, filled with various information and emotional support needs, especially in dealing with and coping with uncertainty. The purpose of this study is to explore the different types of uncertainties experienced by parents of children diagnosed with SCID through newborn screening, from initial diagnosis to later treatment and adaptation to a new normal, by applying the uncertainty framework proposed by Han et al.

Research Origin

This study was conducted collaboratively by scholars including Melissa Raspa, Oksana Kutsa, Sara M. Andrews, Angela Y. Gwaltney, Erin Mallonee, Alissa Creamer, Paul K. J. Han, and Barbara B. Biesecker. The research findings were published in the European Journal of Human Genetics, Volume 32, pages 392-398, 2024, with the DOI: 10.1038/s41431-023-01345-5. This study was conducted under the authorization of the European Society of Human Genetics.

Research Methods

Researchers recruited 26 parents from two patient advocacy organizations for semi-structured interviews to explore the types of uncertainties experienced by parents, including scientific, practical, personal, and existential uncertainties. Each interview was audio-recorded, transcribed, and coded. Through deductive and inductive content analysis, experiences of uncertainty at various stages were described.

Research Results

The study found that the uncertainties experienced by parents during the SCID treatment journey are continuous and multifaceted. Scientific uncertainties were common in the early stages of the SCID journey, especially regarding diagnosis and treatment; while prognostic uncertainty became more prominent in the post-treatment phase. Practical uncertainties in the early treatment and new normal phases mainly focused on financial and logistical issues; personal uncertainties centered on relationships with family, friends, and spouses. Existential uncertainty was frequently mentioned in the early stages of the entire journey and re-emerged in the new normal phase. Parents’ emotional responses to uncertainty included anxiety, worry, fear, doubt, guilt, and sadness, even anger, frustration, and depression.

Research Conclusions

This study provides a deeper understanding of the uncertainties faced by parents whose children are diagnosed with SCID through newborn screening, which is crucial for preparing parents for the SCID treatment journey and helping them manage and cope with uncertainty. Healthcare providers should play a key role in offering informational and emotional support to promote positive adaptation.