RTI International, Research Triangle Park, NC, USA.
Immune Deficiency Foundation, Towson, MD, USA.
Eur J Hum Genet. 2024 Apr;32(4):392-398. doi: 10.1038/s41431-023-01345-5. Epub 2023 Mar 27.
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.
患有严重联合免疫缺陷症 (SCID) 的个体，是一组罕见的遗传性疾病，他们有生命危险，除非及早诊断和治疗。即使通过新生儿筛查早期发现，患有 SCID 的儿童的父母也会踏上一条充满各种信息和情感支持需求的复杂道路。本文探讨了通过新生儿筛查诊断出患有 SCID 的儿童的父母所经历的不确定性类型。我们对 26 名父母进行了半结构化访谈，讨论了他们所经历的不确定性类型，包括科学、实际、个人和存在。每次访谈都进行了记录、转录和编码。我们使用演绎和归纳内容分析，描述了 SCID 旅程中每个阶段所经历的不确定性类型。我们发现，SCID 旅程中的不确定性是慢性的和多方面的。有些不确定性在旅程的某些阶段更为突出，而有些则跨越多个阶段。父母对不确定性表现出各种负面情绪反应，从焦虑、担忧和恐惧，到怀疑、内疚或悲伤，甚至愤怒、沮丧和抑郁。研究结果表明，医疗保健提供者需要通过提供资源来帮助管理和应对不确定性，为 SCID 旅程做好父母的准备。
