Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’

Abstract

ObjectiveTo explore living with heritable retinoblastoma, specifically survivors’ perceived role of regular follow-up at a retinoblastoma survivorship clinic.Methods and analysisAdult survivors of heritable retinoblastoma were recruited from the Retinoblastoma Survivorship Clinic, Aarhus University Hospital. Ten survivors participated in individual explorative, semistructured interviews. Thematic data analysis was conducted.ResultsFive key themes relating to vision, social life, family, second cancer risk and the healthcare system were identified. Subthemes relating to the Retinoblastoma Survivorship Clinic included the retinoblastoma coordinator, cancer risk, psychosocial support and genetic knowledge. The retinoblastoma-related physical and psychosocial issues influenced survivors’ everyday living; however, the opportunity to live a normal life varied considerably, with the majority experiencing no major limitations. The need for specialised management and a coordinator was emphasised to be the main value of the Retinoblastoma Survivorship Clinic.ConclusionDespite reporting an overall normal life and no major limitations in daily living activities, our data confirm that heritable retinoblastoma impacts several aspects of daily living. Uniquely, this study demonstrates that the main value of the Retinoblastoma Survivorship Clinic was a specialised contact person and coordinator in the healthcare system, providing continuous and necessary management and guidance after retinoblastoma treatment, and for all aspects of health related to heritable retinoblastoma. The needs of heritable retinoblastoma survivors are complex and extensive, and the specific role of the healthcare system to support survivorship should be prioritised, specialised and multidisciplinary.

Danish heritable retinoblastoma survivors' perspectives on reproductive choices: “It's important for me, not to pass on this condition”

“…As reported previously, all participants consistently expressed a desire to avoid passing on the condition to their children (Gregersen et al, 2021). The present analysis shows how, for several participants, this concern was extremely strong.…”

“…An explorative, qualitative study design (Kvale & Brinkmann, 2009; O'Reilly, 2012) was undertaken to obtain in‐depth insights into the lived experience of RB survivors (Gregersen et al, 2021). For the present analysis, a subset of data specifically regarding the reproductive choices in heritable RB was further analyzed.…”

“…With an autosomal dominant inheritance pattern, survivors with heritable RB have a 50% risk of passing on the disease‐causing pathogenic RB1 variant to future children, and a significantly increased risk for second primary cancers later in life (Gregersen et al, 2020 ; Kleinerman et al, 2005 ). We have previously reported that the life of survivors with heritable RB can be affected in many ways: vision impairment, altered physical appearance, a high risk for second primary cancer, and inevitably, the genetic risk to their future children, which may impact family‐planning choices (Gregersen et al, 2021 ). Despite the statement of an overall good and nearly “normal life,” this range of physical and psychosocial consequences of RB, the fear of further vision loss and other cancers, and the risk for their children are all factors that impact on the RB survivors' lives.…”

How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? “With Li‐Fraumeni syndrome, it’s just an intermission”

“…A study of survivors of heritable pediatric retinoblastoma identified exacerbated fear of subsequent malignancies even though most participants did not remember their initial diagnosis. 20 These two syndromes feature a narrow set of affected organs and distinct patterns of cancer onset. Little is known about how AYAs with more variable cancer risk understand and experience survivorship.…”

“…Other communities have not adopted similar language. A study of survivors of heritable pediatric retinoblastoma identified exacerbated fear of subsequent malignancies even though most participants did not remember their initial diagnosis 20 . These two syndromes feature a narrow set of affected organs and distinct patterns of cancer onset.…”