Our genes define us, shaping our unique identities and influencing our lives in profound ways. However, when genetic faults come into play, the risk of diseases like cancer can increase significantly. But through the generosity of donations, recent advancements in research and technology have paved the way for detecting these faults and determining the likelihood of passing them onto future generations.
A groundbreaking program funded by the Kids with Cancer Foundation through Sydney Children’s Hospitals Foundation is now offering patients like Lily, and their families, genetic testing and counselling to children with an increased genetic predisposition to cancer.
Lily was diagnosed with retinoblastoma, an early childhood tumour of the eye, at just six-months-old. Her mother Lauren noticed a white spot on Lily’s pupil while breastfeeding her. After a visit to the GP, they discovered the spot was something more ominous. Lily was referred to the Eye Clinic at The Children’s Hospital at Westmead, where treatment began. Despite the shock, the diagnosis wasn’t entirely unexpected, as Lily’s dad, Scott had battled the same cancer as a child.
“We were aware Lily would need to be checked over given Scott’s history but hoped she wouldn’t’ have to go through the same thing as her dad,” said Lauren.
Lily underwent six rounds of chemotherapy, laser treatments and cryotherapy. While the cancer affected her central vision, her peripheral vision remained intact, sparing her from the need to remove her eye.
Grateful for the exceptional care and support provided by Lily’s medical team, Lauren and Scott considered themselves part of a compassionate and understanding extended family. Now, Lily is undergoing genetic testing to confirm if her cancer resulted from the same genetic mutation as her dad’s. The results will guide her ongoing treatment, provide invaluable information for future family planning, and offer hope for other families facing similar challenges.
“By examining the child’s underlying genetic risk, we can get a far greater understanding of a child’s future risk of cancer and put measures in place to minimise or eliminate risk, which could be a gamechanger for some of the families we see,” said Dr Luciano Dalla-Pozza, Director of the Cancer Centre for Children at The Children’s Hospital at Westmead.
Lily’s family recognises the program’s benefits, both for themselves and other families touched by cancer.
“A program like this can help families like ours make informed decisions when there has been a history of cancer. I hope it helps identify those at greater risk and allows for early intervention to reduce the prevalence of this horrible disease,” said Lauren.
Lily is now doing really well. Lauren shares, “We’ve had positive news about the growth in her tumours and she’s been chemo free for four months now. She loves to smile and wave at everyone and is back to being a cheeky one-year-old living her best life.”