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

Ladores, Sigrid; Polen, Morgan

doi:10.1177/2374373521996971

Journal of Patient Experience

2021

DOI: 10.1177/2374373521996971

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

Sigrid Ladores

Morgan Polen

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, an… Show more

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“…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.…”

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confidence: 99%

“…[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.…”

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confidence: 99%

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

Bathgate

Muther

Georgiopoulos

et al. 2023

Pediatric Pulmonology

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BackgroundElexacaftor/tezacaftor/ivacaftor (ETI) has been associated with unprecedented clinical improvements, transforming the management of cystic fibrosis (CF). However, side effects with implications for safety and well‐being have been reported, including neuropsychiatric changes. This study aimed to better characterize the emerging positive and negative impacts of ETI.MethodsThe Cystic Fibrosis Foundation's Mental Health Advisory Committee distributed a 26‐item survey to US CF care teams to assess clinician observations of patient‐reported experiences with ETI. Survey responses measured the prevalence of these effects in five domains: (1) positive physical and psychological effects, (2) sleep difficulties, (3) cognitive difficulties, (4) worsening mental health, and (5) concerns about the future and finances.ResultsSeventy‐five healthcare providers responded from a pediatric, adult, and combined centers. Positive physical effects of ETI and increased optimism were reported in the upper quartiles (50%–100%) and rated as having a significant impact on daily functioning. Sleep and cognitive difficulties were reported in 1%–24%, with slight impacts on functioning, and psychological symptoms (e.g., increased stress, depression, anxiety) and new psychiatric medications were reported in 1%–24%, with moderate impacts. Concerns about the future were reported in 1%–24%, with minimal impacts.ConclusionAcross US centers, providers most often observed positive physical effects of ETI. However, a variety of negative side effects were also reported, including sleep disruptions and worsening psychological functioning, which should be systematically monitored by CF teams. These national‐level data are a first step in evaluating the prevalence and consequences of these side effects and can directly inform future studies.

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confidence: 99%

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confidence: 99%

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

Bathgate

Muther

Georgiopoulos

et al. 2023

Pediatric Pulmonology

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Effects of elexacaftor/tezacaftor/ivacaftor therapy on mental health of patients with cystic fibrosis

et al. 2023

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Introduction: The CFTR modulator drug elexacaftor/tezacaftor/ivacaftor (ETI) was shown to improve CFTR function and clinical symptoms in patients with cystic fibrosis (CF) with at least one F508del allele. Recently, some case reports suggested potential side effects of ETI on mental health with an increase in depressive symptoms and even suicide attempts in patients with CF. However, the general effects of this triple combination therapy on the mental health status of patients with CF remain largely unknown.Methods: We, therefore, performed a prospective, observational study in a real-life setting and investigated the relationship between initiation of ETI therapy and changes in mental health in adult patients with CF. We assessed Cystic Fibrosis Questionnaire-Revised (CFQ-R), Patient Health Questionnaire-9 (PHQ-9), Beck’s Depression Inventory – Fast Screen (BDI-FS) and Generalized Anxiety Disorder 7-item Scale (GAD-7) at baseline and 8–16 weeks after initiation of ETI.Results: In total, 70 adult patients with CF with at least one F508del allele and a median age of 27.9 years were recruited. After initiation of ETI, the CFQ-R respiratory domain score improved by 27.9 (IQR 5.6 to 47.2; p < 0.001). The PHQ-9 score of depressive symptoms decreased by 1.0 (IQR -3.0 to 0.3; p < 0.05) with an increase of 16.9% in the group with a minimal score after initiation of ETI and a decrease in the groups of mild (−11.3%) or moderate (−5.7%) scores compared to baseline. The BDI-FS score of depressive symptoms decreased from 1.0 (IQR 0.0–2.0) at baseline to 0.0 (IQR 0.0 to 2.0; p < 0.05) after initiation of ETI. The group with a minimal BDI-FS score increased by 8.0% after initiation of ETI, whereas the groups with mild (−4.9%), moderate (−1.6%) or severe (−1.6%) scores decreased compared to baseline. The GAD-7 score of anxiety symptoms did not change after initiation of ETI compared to baseline (0.0; IQR -2.0. to 0.0; p = 0.112).Conclusion: Initiation of ETI improves symptoms of depression in adult patients with CF with at least one F508del allele. However, symptoms of anxiety do not change after short-term therapy with ETI.

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A Global Perspective on Transition Models for Pediatric to Adult Cystic Fibrosis Care: What Has Been Made So Far?

Poamaneagra,

Plesca,

Tataranu

et al. 2024

JCM

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Interest in the transition of care for cystic fibrosis (CF) patients has grown significantly over time, driven by advancements in treatment that have extended life expectancy. As more CF patients survive into adulthood, the need for structured transition strategies has become a priority for healthcare systems worldwide. Transition programs for CF differ globally, reflecting varying resources and healthcare systems. In North America, the US CF Foundation has fostered adult care since the 1990s, with accreditation standards mandating adult programs and structured transition guidelines, exemplified by the CF RISE program for gradual responsibility shifts. Canada integrates US-inspired models, emphasizing national advocacy and outcomes evaluation. In Europe, approaches varies widely; the UK leads with structured programs like the Liverpool model and robust registry support, while France and Germany adopt multidisciplinary methods. In Australia and New Zealand, youth-centered policies prioritize early planning and access via telemedicine. In Asia, where CF is rare, transitions are less formalized, with some progress in countries like Japan and Turkey, though resource gaps and limited data tracking remain significant challenges. Despite varied approaches across countries, common barriers like resource limitations and psychological readiness continue to challenge successful transitions. Highlighting the importance of centralized, well-coordinated transition programs, recent initiatives have focused on the implementation of national and international CF registries to enhance health outcomes and quality of life. This narrative review provides a global perspective on transition strategies developed across various healthcare systems for CF patients, identifying best practices, common challenges, and outcomes related to the continuity of care.

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

Cited by 3 publications

References 6 publications

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

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

Effects of elexacaftor/tezacaftor/ivacaftor therapy on mental health of patients with cystic fibrosis

A Global Perspective on Transition Models for Pediatric to Adult Cystic Fibrosis Care: What Has Been Made So Far?

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