Navigating a hidden disability: Lived experiences and challenges of adults with early stage inherited retinal diseases

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.