Navigating familial retinoblastoma in Kenya: A mother's journey

*This story is based on a true story; names and other personal details have been changed to protect privacy. As a child, Mama Zawadi was diagnosed with unilateral retinoblastoma, an aggressive eye cancer. Too young to remember, she relies largely on her parents' memories to describe her diagnosis and treatment. Still, the profound effect the cancer had on her life stayed with her as she grew older. Her affected eye was enucleated to prevent metastasis. Her empty socket was never fitted with a prosthetic eye, as her parents did not understand the purpose of having an eye that did not see. Visibly different from other children, she faced stigma from her community in Kenya, some believing cancer to be caused by witchcraft. Mama Zawadi, now a strong mother of three, admits that it was challenging to overcome her childhood hardships—some of which still affect her into adulthood. Amongst her biggest motivators is her daughter Zawadi, also affected by retinoblastoma. Although Mama Zawadi did not fully comprehend the heritable nature of retinoblastoma, she recognized the sign of leukocoria, or what she described as "cat's eye," in two-year-old Zawadi's eye. Leukocoria was also the first sign her parents noted in her own eyes as an infant. Now three-and-a-half, Zawadi is an energetic and high-spirited young girl. Like her mother, she underwent enucleation to treat her affected eye. Unlike her mother, she wears a prosthetic eye, which is almost indistinguishable from her living eye. Mama Zawadi ensures her daughter adheres to the screening and follow-up regimen prescribed by the retinoblastoma care team at Kenyatta National Hospital. She is determined to prevent her daughter from experiencing stigma; when it comes time to remove and clean her daughter's prosthetic eye, she does so discreetly, so that nobody notices. Mama Zawadi sees a bright future ahead for her daughter, thankful that she was able to play a role in detecting the eye cancer early. Retinoblastoma affects 1:16-18,000 live births around the world; a significant proportion of the 9000 new annual cases live in sub-Saharan Africa.1 Understanding the genetic consequences of retinoblastoma is crucial for affected families. Approximately half of patients carry a pathogenic variant in the RB1 gene that predisposes to retinoblastoma in both eyes and increases the risk of second malignant neoplasms later in life. This variant can also be passed on to offspring. Thus, comprehensive genetic testing and counseling are important to accurately assess and communicate individual risks. Yet these services are largely unavailable in low-resource settings. The Kenya National Retinoblastoma Strategy Group (KNRbS) was established in 2008 to study and implement innovative approaches to improve retinoblastoma outcomes.2 Interventions included: consensus on and publication of Kenyan Ministry of Health -endorsed clinical guidelines for retinoblastoma care3; public awareness and medical education campaigns2; and capacity-building initiatives focused on histopathology, ophthalmic and oncological care, and cancer genetics.2, 4-8 Since establishing the KNRbS, survival from retinoblastoma rose from 30%9 to 70%.10 Furthermore, age at diagnosis decreased from 24.4 to 16.8 months of age for bilateral patients, and 35.9 to 24 months of age for unilateral patients,10 consistent with patients diagnosed in HICs.11 A model for retinoblastoma genetic services in Kenya was developed by taking into account the unique cultural context.5 Technological feasibility of genetic services in Kenya was reviewed, and although many challenges were noted, progress is being made.12 Still, genetic services are not yet widely available for retinoblastoma. As a result, the Retinoblastoma Best Practice Guidelines endorsed by the Kenyan Ministry of Health recommend that in the absence of genetic testing, all survivors should receive counseling about potential risks of retinoblastoma in their offspring, and ensure that newborn infants undergo regular eye screening until 7 years of age.3 Knowledge of one's family history is vital for early detection and saving lives, eyes, and vision in the next generation.13 Yet prior research in Kenya reveals that children with a family history of retinoblastoma are diagnosed later than spontaneous cases.9 A qualitative study of the Kenyan retinoblastoma community indicates there are gaps in knowledge of retinoblastoma genetics and many have unmet needs and concerns about subsequent pregnancies.14 Anecdotal evidence from physician members of the KNRbS suggests that sometimes even knowing the risk, parents might choose to avoid seeking medical care to prevent their child from losing an eye as part of treatment. Understanding stories of individuals where knowledge of retinoblastoma family history facilitates diagnosis may reveal predictors of early detection and modes of intervention. Mama Zawadi's story highlights the importance of awareness in the early detection of heritable cancers like retinoblastoma. Her proactive approach in her daughter's care, informed not just her own experiences but her parents' memories, underscores the role of parents in transferring information to their children affected by cancer as they grow older.15 The recognition of leukocoria in the eye of her infant daughter was what prompted the diagnosis. Yet, had Mama Zawadi known about the heritable nature of retinoblastoma, she might have sought an eye exam for Zawadi prior to noticing leukocoria, potentially saving the eye and vision. Thus, genetic counseling that emphasizes the heritable consequences of retinoblastoma and supports parents in communicating this information to their growing children is crucial for early diagnosis. Observing Mama Zawadi's vigilance and love for her daughter was both heartwarming and heartbreaking. It highlighted the powerful impact early detection and access to healthcare can have on a child's life—and for the team managing retinoblastoma care, served as a form of reassurance that things are steadily moving in the right direction. However, their story also underscored the stark health disparities we observe in Kenya, where many children suffer or lose their lives due to a lack of awareness, access, or cultural barriers. From the physician's perspective, implementing routine risk counseling for parents with newly affected children has led to increased preservation of both eyes, especially among affected siblings of firstborn survivors. These advancements are promising, but ongoing efforts are essential for further improvements, particularly the implementation of genetic testing and counseling. Treating a child with retinoblastoma in a family where a parent is also a heritable cancer survivor feels like being on an emotional rollercoaster. With Mama Zawadi and her daughter, we saw firsthand the strength and resilience of this family. Spending time with Zawadi and her mother deepened our empathy for their struggles and hopes. Zawadi's early diagnosis and routine follow-up for her second eye felt like a triumph, reinforcing our commitment to improving treatment capacity and confirming the strong potential of early detection in improving overall retinoblastoma outcomes. Yet, Mama Zawadi now faces the ongoing challenge of monitoring for the potential of her own second nonocular cancer, a harsh reminder of the relentless nature of heritable cancer syndromes. While we are proud of the progress we have made in caring for retinoblastoma families in Kenya, we are acutely aware of the gaps and limitations to our capacity. This fuels our drive for further advancements in genetic screening and surveillance. Above all, Mama Zawadi's experience reminds us that behind every clinical case is a human story, full of hope, strength, and resilience. Patient stories like this one remind us there is an urgent need for better solutions. Despite the challenges, we remain hopeful and committed to a future where every child and parent can look forward to a cancer-free life. Mama Zawadi's story illustrates how knowledge and awareness of the signs of retinoblastoma can lead to better outcomes, even in the absence of genetic testing. While limited in the generalizability of the conclusions based on one case, the insights from this patient story are supportive of the broader call to action for better resources, awareness, and policy changes for genetic services in low-resource settings.16 The authors declare no conflict of interest.

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