Six-year-old Isla, from Colchester, lives with two rare chromosome conditions, 2q37.3 deletion and 8p21.2 duplication, global developmental delay and hypotonia. Doctors told Isla's family early on that she would likely spend most of her life lying on her back. Mrs Shuffle launched a blog, Beyond the Diagnosis, to share Isla's story and raise awareness about rare genetic conditions. "We hope Isla’s story reminds other families that every child develops in their own time and that every milestone is worth celebrating." While many children take their first steps around their first birthday, Isla’s journey has been shaped by perseverance, resilience, and hope.