Updated: Oct 17
Hi everyone! I hope you all are well and are had a great week. These next 2 weeks I want to talk about Cate's diagnosed condition, NAA10 Deficiency. My family and I have both done projects on it recently and I want to share them.
We did not know what went wrong for Cate or what she had for 20 years. She was a mystery. My family did not have a diagnosis until December 2019. Cate had a de novo, one time lighting bolt, genetic mutation called NAA10 Deficiency. I am going to go into more depth next week about what NAA10 Deficiency is, but it is believed to affect her neurotransmitters. Cate has the most severe form of NAA10 Deficiency a person can get, but having answers has changed a lot for us.
My mom, Christa, was interviewed about our diagnosis story and experience for CHOP Epilepsy Neurogenetics Initiative. I am not going to say anything more so I do not spoil the article, so please enjoy it. Click on this link: https://www.chop.edu/stories/cate-s-story-attaining-genetic-diagnosis-help-epilepsy-neurogenetics-initiative.
Thank you for reading. Have a great weekend and week ahead!