In the originally published version of this article, Table 1 unfortunately included c.542G>A instead of c.542G>T. This mutation was correctly notated as c.
Advanced Genetic Counseling: Theory and Practice addresses educational objectives for second-year genetic counseling students. Building on mastery of genetics principles and baseline clinical skills, this comprehensive textbook begins with the history of the profession as it relates to current practice definitions and goals. Characteristics of clients and counselors that may affect the counseling relationship are presented to guide strategies for achieving positive client outcomes. Throughout the text, a psychotherapeutic counseling approach is advocated. Steps to establishing a therapeutic alliance are outlined and the elements of relational counseling emphasized. The psychological counseling theories presented will help counselors identify interventions to address client needs. Students are encouraged to pursue research to address gaps in evidence needed to guide practice. Health behavior and social psychology theories offer models to assess health perceptions and behaviors. The book concludes with a look toward the future of genetic counseling in the genomics era.
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.
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