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

Abstract

Purposee 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 ve presymptomatic family members of FAP patients were collected by using a half structured interview method. e data were analyzed by content analysis.Results and Discussion ey 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. ey 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. ey, of course, felt aggrieved by this, but it rea rmed their desire to live. e brothers were di erent in their thinking for presymptomatic genetic testing. ey 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.