Diyanna’s Gene is the story of our daughter Diyanna and her battle against a rare genetic mutation called CACNA1E. It’s about the little rays of sunshine we see in what has been a very gloomy time in all of our lives.The effects of this gene mutation are severe and causes Epileptic Encephalopathy, Movement Disorder and severe Developmental Delay.
We have been told that she is only one of 30 known cases in the world and currently is the only child in Australia with this condition. We hope that Diyanna’s Gene will help us connect with other families who have children with this condition, so that we can create awareness and build a foundation to lobby for research programmes towards this gene.
Thank you for reading this blog. I hope you will be able to help Diyanna by following us and spreading her story to raise awareness of special children like her.