Mariam Bakir, Eden G Robertson, Ruofei Trophy Chen, Bao N Nguyen, Bronwyn McFadyen, Eve Makrai, Leighton Boyd, Rosemary Boyd, Sally Karandrews, Lauren N Ayton, Alexis Ceecee Britten-Jones
{"title":"Navigating a hidden disability: Lived experiences and challenges of adults with early stage inherited retinal diseases.","authors":"Mariam Bakir, Eden G Robertson, Ruofei Trophy Chen, Bao N Nguyen, Bronwyn McFadyen, Eve Makrai, Leighton Boyd, Rosemary Boyd, Sally Karandrews, Lauren N Ayton, Alexis Ceecee Britten-Jones","doi":"10.1016/j.dhjo.2025.101820","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Inherited retinal diseases (IRDs) are genetic conditions that typically cause vision loss in working-age adults, representing a unique hidden disability characterised by variable progression rates.</p><p><strong>Objective: </strong>This qualitative study explored the lived experiences of adults in the early stages of IRDs, when vision loss is not outwardly apparent.</p><p><strong>Methods: </strong>Semi-structured interviews were conducted with 15 individuals with IRDs (mean age 37 ± 17 years) with experiences of progressive vision loss in the last 10 years, exploring participants' experiences and challenges following their IRD diagnosis. Interviews were transcribed verbatim and analysed using thematic analysis method.</p><p><strong>Results: </strong>Analysis yielded five overarching themes: 1) Adapting to the diagnosis: \"The journey can be harder than the actual disease\", describing challenges in coming to terms with the diagnosis. 2) Daily obstacles: \"Accepting what I have, adapting where I can\", describing lifestyle and behavioural changes to accommodate for changing vision. 3) A roller-coaster of emotions: \"I feel like I'm not in control of the journey\", highlighting emotional challenges managing the uncertainty of a variable, progressive disease. 4) Navigating society: \"it's invisible, so people forget\", capturing interpersonal challenges stemming from a hidden disability. 5) The road ahead: Finding an identity within uncertainty, describing struggles with identity and the future.</p><p><strong>Conclusion: </strong>Beyond vision impairment, individuals with IRDs face numerous personal and interpersonal challenges due to the hidden nature of their disability. These challenges are not always immediately apparent, highlighting the importance of raising awareness to assist in developing targeted resources, diagnostic support, and broader societal understanding for hidden disabilities.</p>","PeriodicalId":49300,"journal":{"name":"Disability and Health Journal","volume":" ","pages":"101820"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Disability and Health Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.dhjo.2025.101820","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEALTH CARE SCIENCES & SERVICES","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Inherited retinal diseases (IRDs) are genetic conditions that typically cause vision loss in working-age adults, representing a unique hidden disability characterised by variable progression rates.
Objective: This qualitative study explored the lived experiences of adults in the early stages of IRDs, when vision loss is not outwardly apparent.
Methods: Semi-structured interviews were conducted with 15 individuals with IRDs (mean age 37 ± 17 years) with experiences of progressive vision loss in the last 10 years, exploring participants' experiences and challenges following their IRD diagnosis. Interviews were transcribed verbatim and analysed using thematic analysis method.
Results: Analysis yielded five overarching themes: 1) Adapting to the diagnosis: "The journey can be harder than the actual disease", describing challenges in coming to terms with the diagnosis. 2) Daily obstacles: "Accepting what I have, adapting where I can", describing lifestyle and behavioural changes to accommodate for changing vision. 3) A roller-coaster of emotions: "I feel like I'm not in control of the journey", highlighting emotional challenges managing the uncertainty of a variable, progressive disease. 4) Navigating society: "it's invisible, so people forget", capturing interpersonal challenges stemming from a hidden disability. 5) The road ahead: Finding an identity within uncertainty, describing struggles with identity and the future.
Conclusion: Beyond vision impairment, individuals with IRDs face numerous personal and interpersonal challenges due to the hidden nature of their disability. These challenges are not always immediately apparent, highlighting the importance of raising awareness to assist in developing targeted resources, diagnostic support, and broader societal understanding for hidden disabilities.
期刊介绍：
Disability and Health Journal is a scientific, scholarly, and multidisciplinary journal for reporting original contributions that advance knowledge in disability and health. Topics may be related to global health, quality of life, and specific health conditions as they relate to disability. Such contributions include:
• Reports of empirical research on the characteristics of persons with disabilities, environment, health outcomes, and determinants of health
• Reports of empirical research on the Systematic or other evidence-based reviews and tightly conceived theoretical interpretations of research literature
• Reports of empirical research on the Evaluative research on new interventions, technologies, and programs
• Reports of empirical research on the Reports on issues or policies affecting the health and/or quality of life for persons with disabilities, using a scientific base.
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