Jayla's first birthday

 Jayla was born September 5th 2020 and came home September 8th. I was at her home when she first arrived because I was taking care of Big Brother JJ, two and half years old. Mom, Dad and I won’t forget the look on his face, it said what's that and when is she going to leave. Now they are great friends.    
 

 After a few months Mom started to worried about a few things, like Jayla didn't cry hardly at all.  At first it seemed like a blessing, but it went on to long. By the time she was 7, 8 or 9 months, she would involuntary jerk her body. Mom knew something wasn't right. Dad and I thought one day soon, she will snap out of it and be fine. After all it didn't seem to bother or hurt her.
 

 Mon started calling Neurologist and Infant Neurologist in Springfield. After seeing or consulting with several and both hospital specialist we had very little information. Next was Children Hospitals with Infant Specialists. After Springfield it was St Louis. After two and a half days Mom and Dad knew what it wasn't. It wasn't a lot of bad stuff, but no one knew what it was. 

 Next it was Chicago's University of Illinois Children's Hospital with Doctor Raven Adams a leader in her field as an Infant Pediatrician. After 4 more days at U of I hospital where Jayla was getting very tired of being poked, prodded, stuck with needles etc. Still not much of an answer. It was suspected to involve DNA. The hospital sent their findings to a network of children's hospitals, clinics and specialist.   
 

 Several days after Jayla's first birthday a letter came from SanDiago, not good news. The Rady Children’s Institute Clinical Genome Center had determined the cause of problems Jayla was having, Snijders Blok-Campeau Syndrome.  Very rare.  There is no cure there is no correction.  Jayla's CHD3 gene had a variant that appeared in about 200 cases in the last 580,000,000 births world wide.

 Jayla is a sweet loving child who doesn't know how unique she is.

 In short your CHD3 gene is active during the formation of your Brain.   The CHD3 gene protein is thought to regulate the activities of other genes in the nervous system of embryos, affecting how brain cells move to the correct position at the right time during early development. 

 Rady Childrens Institute stated, "This variant(Jayla's) has not been previously reported or functionally characterized in the (medical)literature to our knowledge." We are hoping that the fact that Jayla may be the only person to ever have this particular variant in the CHD3 gene, means She will be less affected than children with other variants.