Diyanna’s Gene is the story of our daughter Diyanna and her battle against a rare genetic mutation known as CACNA1E. It’s about the little rays of sunshine we see in what has been a very gloomy time in all of our lives. This mutation is so rare that there is very little support for me and my family; so many questions but very little answers. We have been told that she is only one of 20 known cases in the world and the only child in Australia. I hope that Diyanna’s Gene will help us connect with other families with this exact condition so that we can create awareness and build a foundation to lobby for research programmes towards this gene.
We live everyday of our lives knowing that there is a possibility of losing her at any moment. We want to and need to find a cure sooner rather than later. The effects of this gene are severe. Diyanna suffers from Epileptic Encephalopathy, Movement Disorder and severe Developmental Delay. In short her brain has constant epileptic activity and over 400 clinical seizures on her worst day. This makes it impossible for her brain to function normally which has caused her development to stop at stage of a 2 month old. In addition to this she also can have dystonic posturing every 3-4 minuets which causes her much pain. Watching her suffer everyday has caused us (my husband and I) heart ache and constant worry. Our lives and the lives of our immediate family have been turned upside down.
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. In the next few posts I hope to go back to the start of our journey.