Welcome to our CaringBridge website for our little peanut, Savannah Jo! We'll be posting all of our updates and pictures here to have one place to update all of our friends and family. Please partner with us in praying for healing for our little love and for progress, growth, and strength!
Savannah was born at 6:22pm on Friday, May 31st, 2019. She was not breathing and was immediately intubated, and since birth has been unable to breathe on her own due to her underlying neuromuscular disorder. Whole exome sequencing revealed that Savannah has a mutation on her NVL1/NVL2 gene. Both parents each have a mutation on this gene but it appears that Savannah inherited both mutations, rendering the gene nonfunctional. There is very little known about NVL1, and no associated disorders have been identified as being tied to this gene. It is believed that Savannah is the first documented case of her disorder. The National Institute of Health is studying her to attempt to learn more about the disorder.
The disorder appears to be progressive. We're trying to soak up every moment with Savannah that we can, and are praying for a miracle!