My husband Chris and I have been married for 20 years and have one child, Rowan. We live in North Carolina, where I work in database design/administration. My degree is in ceramics/sculpture, and I enjoy traveling and seeing art and architecture. February 8, 2019, was the first time we read the words “Okur-Chung Neurodevelopmental Disorder” on a genetic test report and finally had an answer. Prior to this diagnosis, our child had received diagnoses of low muscle tone, global developmental delay, speech delay, selective mutism, and autism. As we grasped the fact that this was an ultra-rare genetic syndrome that was not known prior to 2016 and was only shared by less than a few hundred individuals worldwide, at first, we felt very alone.
However, as the cost of genetic testing decreases, genetic diagnoses are increasing, and we have seen this in real-time as the OCNDS patient community has grown. I am especially passionate about encouraging policies that increase testing for newborns. When my child was born doctors suspected a genetic disorder but genetic testing was not as advanced as today. My hope is that one day, every OCNDS patient out there will be diagnosed at birth, giving their families more information than we had; because knowledge is power. Thanks to the CSNK2A1 Foundation, we no longer feel alone as we are able to connect and share with all the families that have a loved one with OCNDS, and I’m honored to serve on the Parent Advisory Board to help contribute in any way to the Foundation that has given us so much.