Rare Should Never Mean Invisible
by Jade Greatbatch
Eleven-year-old Christopher from Adelaide, South Australia is vibrant, funny and deeply compassionate. He is my cherished son and my constant “wingman.”
He loves video games and, most of all, animals, especially Molly, our miniature dachshund. These simple joys sustain us amidst the daily realities of living with his complex KAT6B-related disabilities.
Christopher has a rare genetic change in the KAT6B gene, meaning his body is missing a protein critical for regulating development and repair across multiple body systems. This has a significant impact on his bones, muscles, and connective tissue, affecting far more than what people can see.
Over the past year, Christopher has experienced significant regression in both his health and functional capacity due to his KAT6B-related disabilities. He has not been able to attend school since May 2025. His hospital and therapy teams continue searching for answers in a space where there is very limited research and understanding to guide them. Living with an ultra-rare condition often means facing uncertainty without a roadmap.
As his mum, my role has become one of constant learning and fierce advocacy. I have learned to trust my instincts and to speak up because parental insight matters. There have been critical moments where advocating strongly led directly to important treatment decisions. Families like ours are not just carers; we are part of the clinical picture.
Christopher’s resilience and gentle nature inspire me every single day. But inspiration alone is not enough.
We urgently need:
• Increased research into ultra-rare genetic conditions like KAT6B
• Better clinical guidelines and standards of care
• Greater awareness within medical and disability communities
We are incredibly grateful to the KAT6 Foundation, which proudly funds and supports international research by connecting families to current research studies. In a world where rare conditions can feel isolating, the Foundation provides hope, direction, and a sense of global community. Their work is vital in moving us closer to understanding, treatments, and better outcomes for children like Christopher.
Rare should never mean invisible.
On Rare Disease Day 2026, I share Christopher’s story to raise awareness for the KAT6 community because children like Christopher deserve answers, targeted therapies, and a future built on understanding, not uncertainty.