Carter was born on April 14, 2016 at 36 weeks. After a perfect pregnancy and perfect labor, we had a perfect baby. At around 3 months we realized Carter just could not see as he should. He wasn’t focusing or tracking and never made eye contact. Something was just…different about him. At 4-5 months, we were recommended to physical therapy for hypotonia or low muscle tone. He couldn’t hold his head up that well and he had always been a floppy baby. Carter never reached for anything or noticed things going on around him.
After vomiting consistently for 16 months, Carter underwent Nissen surgery and received a G-tube, which was our saving grace. He started to gain weight, which put him on the growth chart at 5%, which is HUGE! After seeing ophthalmologists, neurologists, GI, neuro-ophthalmologists, multiple pediatricians and having a multitude of tests performed, we got our answer through Whole Exome Sequencing. Carter is diagnosed with an extremely rare disorder, GRIN1.
He shares his specific mutation of GRIN1 with only 1 other person. In the world. Which is extraordinary. As a result of this disorder, Carter endures all of the following: Hypotonia, Cortical Vision Impairment (CVI), Strabismus, Esotropia, Hypermobility, Unspecified Hyperkinetic Movements, GERD, Chronic Constipation and Generalized Seizures. Though he will never catch up, he is in physical, occupational, play,vision and speech therapy five times a week to help him progress.
He is constantly learning and doing things we never thought possible. He has come so far and we are so proud! Carter will always be in our care, but we are teaching him to be as self-sufficient as possible. We want him to enjoy the same experiences any other child would be offered. I have truly developed a passion behind this diagnosis and use most of my time learning more ways for Carter to be successful. Jump on our Carter train and celebrate with us! #cartermancan