Abbey was diagnosed with RNU4-2 in April 2024, after 16 years of genetic testing and investigations, finally an explanation came. With this diagnosis came a rapidly growing community to connect and support one another. The community was only 10 strong when we found the other families amongst the first wave of diagnosis through the first research study.

The diagnosis of course does not change Abbey who is happy and loving, and very cheeky. She may be “non-verbal” but she communicates through a number of ways including gesture, key word sign and her ipad using proloquo2go. Those who take the time to get to know her see her big heart and wicked sense of humour.

Amongst her loves are water, music, puzzles, playgrounds, swimming and socialising. Her challenges are many including but not limited to refractory epilepsy, delayed fine motor skills and intellectual disability however her resilience and strength challenge most!

My mantra throughout the last 16 years has been, “Life isn't about waiting for the storm to pass, it's about learning to dance in the rain”.

I have danced through many storms with my girl, and we will keep dancing together as long as it takes to find answers, support one another and hopefully create change for future children with RNU4-2.

— Sarah, ReNU mom