遺伝性神経難病の発症前遺伝子診断を受けて生きる人の体験―家族性アミロイドポリニューロパチー家系員の語りの分析

Experiences of Families with Inherited Nerve Intractable Disease Who Receive Presymptomatic Genetic Testing: Analysis of Familial Amyloidotic Polyneuropathy, Family Narrative

要旨

　【目的】本研究は，発症前遺伝子診断を受け，将来ほぼ確実にFAPを発症することを知って生きる人の体験を明らかにし，看護への示唆を得ることを目的とした．

　【方法】研究協力者5名に半構造化面接法を用いてデータ収集し，質的記述的に内容分析を行った．

　【結果および考察】共通した体験は以下のとおりであった．彼らは親・親族が闘病する姿と死を体験し，親族から自分自身が将来発症する可能性がある（at risk）ことを知らされ，将来の見通しや家族への責任を果たすべく，確実な人生設計をしようと考えた．結果は陽性だったが，彼らは発症を見定めて生きる決意をした．検査に対する考えは，at riskである同胞と異なっていた．また，配偶者へは感謝と，重荷を背負わせたという負い目との葛藤があった．さらに，子どもに対しては，疾患遺伝子を引き継ぐことの苦悩を感じていた．

　【結論】以上から，at risk者が難病発症の可能性を確定させて生きる人生を選択することや陽性だと明らかになった後の葛藤の様がわかった．彼らが生き抜くためには，将来設計上のさまざまな選択肢を提示すること，さらに豊かなSocial supportを構築する心理支援を行うことが重要であることが示唆された．

Abstract

　【Purpose】The aim of this study was to elucidate the thoughts and feelings of presymptomatic FAP family members who underwent the genetic testing for FAP and obtained the positive result of abnormal transthyretin gene, and to utilize the results for better nursing to such subjects in the future.

　【Methods】Data from five presymptomatic family members of FAP patients were collected by using a half structured interview method. The data were analyzed by content analysis.

　【Results and Discussion】They experienced the death of a parent or a relative who had fought against illness since the respondents were children. And they were informed that they were at risk of appearing FAP themselves. They made up their mind to inspect presymptomatic genetic testing to be responsible to their possible future family. In examination for the genetic test they were found to be positive. They, of course, felt aggrieved by this, but it reaffirmed their desire to live. The brothers were different in their thinking for presymptomatic genetic testing. They felt a debt for the husband and wife, and they felt guilt for the children.

　【Conclusion】It was suggested that it was important that I would show various choices in the design in the future as to how they could best live with the disease. It was suggested that it was important that I undertook psychology research on how to build richer social support.