Lingering Identity as Chronically Ill and the Unanticipated Effects of Life-Changing Precision Medicine in Cystic Fibrosis: A Case Report

Abstract

Cystic fibrosis (CF) is the leading genetic disease among Caucasians; however, advances in diagnosis and treatment have improved both quality and quantity of life for those affected. A remarkable recent discovery is the triple-drug combination, elexacaftor/tezacaftor/ivacaftor, which has been touted as a “miracle drug” for CF because of its demonstrated efficacy and safety. This case study reports on an adult woman with CF who experienced positive life-changing results from elexacaftor/tezacaftor/ivacaftor, and yet discovered that she lived in fear that its effectiveness would diminish, and her debilitating symptoms would return. Her lingering identity as chronically ill tainted her view of her new life with skepticism and pervasive anxiety. This case highlights a critical need to engage in early, regular and sensitive discussions with patients before initiating treatments that may affect their emotional and mental health and provide referrals or services to meet those emergent needs.

Positive and negative impacts of elexacaftor/tezacaftor/ivacaftor: Healthcare providers' observations across US centers

“…7,26,27 Qualitative work has identified positive themes (stability, hope, new goals), as well as the uncertainties associated with shifts in identity, the CF treatment regimen, and perceptions of the future. [26][27][28] In addition, some pwCF may experience feelings of alienation from self and isolation from the CF community, survivors' guilt, and resurfacing of past trauma. 26,28 Preoccupations such as these can heighten anxiety, depression, and cognitive load.…”

“…[26][27][28] In addition, some pwCF may experience feelings of alienation from self and isolation from the CF community, survivors' guilt, and resurfacing of past trauma. 26,28 Preoccupations such as these can heighten anxiety, depression, and cognitive load. Third, CFTR modulators may impact mental health through effects on the nervous system, either related (i.e., a class effect) or unrelated (i.e., an off-target effect of one or more small-molecule components 29 ) to their mechanism of action.…”