A mum shares her family's journey with her son Jack, who lives with Aicardi-Goutières Syndrome — an exceptionally rare genetic disorder affecting around 1 in 100,000 people. The diagnosis took over four years to identify.
The family has learned to focus on the present rather than anxiously anticipating an unpredictable future, navigating daily challenges around Jack's medical and mobility needs, including finding accessible venues.
“About a third of children living with a rare disease are not expected to live past their 5th birthday,” she explains — which is why families learn to live in shorter horizons.
She is grateful for Reuben's Retreat's support during lockdown, including virtual gatherings and wellbeing help, and for connecting with others who understand. Her message: “Have a go at living, experiencing and enjoying what you have right here, right now.”