Hutson Sadie P, Alter Blanche P
Department of Family/Community Nursing, College of Nursing, East Tennessee State University, Tennessee, USA.
Pediatr Blood Cancer. 2007 Jan;48(1):72-9. doi: 10.1002/pbc.20913.
Clinical management of families with autosomal recessive genetic disorders focuses almost exclusively on the affected family members. However, clinically unaffected members of such families may also be severely troubled by the serious illness in a family member. The purpose of this study was to explore the experiences of healthy siblings of patients with a chronic genetic disease, Fanconi Anemia (FA).
We used a qualitative, descriptive design, which consisted of in-depth, semi-structured interviews. A convenience sample of nine siblings of patients with FA was recruited from a National Cancer Institute clinical research protocol, which targets families with inherited bone marrow failure syndromes. NVivo 2.0 software facilitated qualitative content analysis of the data.
Siblings' rich descriptions provided novel insights into the intricate hardships of living within a family in which a rare, life-threatening, chronic genetic illness in one member is the focus of daily life. Four major themes of the sibling experience emerged from the interview data: (1) containment, (2) invisibility, (3) worry, and (4) despair.
Our data suggest that unrecognized psychosocial issues exist for the apparently healthy siblings of patients with FA. This study explores the psychosocial consequences of living in a family with FA and one of only a few studies to explore the sibling experience of chronic illness using a contemporaneous approach. These findings support the need for an increased awareness among health care providers; future hypothesis driven investigation, and improved assessment of problems with potential psychological morbidity.
常染色体隐性遗传病家庭的临床管理几乎完全集中在受影响的家庭成员身上。然而，这类家庭中临床未受影响的成员也可能因家庭成员的重病而深受困扰。本研究的目的是探索患有慢性遗传病范可尼贫血（FA）患者的健康兄弟姐妹的经历。
我们采用了定性描述性设计，包括深入的半结构化访谈。从一项针对遗传性骨髓衰竭综合征家庭的美国国立癌症研究所临床研究方案中，招募了9名FA患者的兄弟姐妹作为便利样本。NVivo 2.0软件协助对数据进行定性内容分析。
兄弟姐妹丰富的描述为了解在一个家庭成员患有罕见、危及生命的慢性遗传病且成为日常生活焦点的家庭中生活的复杂艰辛提供了新的见解。访谈数据中出现了兄弟姐妹经历的四个主要主题：（1）抑制，（2）被忽视，（3）担忧，（4）绝望。
我们的数据表明，FA患者表面健康的兄弟姐妹存在未被认识到的心理社会问题。本研究探讨了生活在FA家庭中的心理社会后果，并且是少数几项采用同期方法探索慢性病患者兄弟姐妹经历的研究之一。这些发现支持医疗保健提供者需要提高认识；未来进行假设驱动的调查，并改进对潜在心理疾病问题的评估。
