C.W.
C.W. was diagnosed with a de novo NRXN1/2p16.3 deletion in 2021 at age 5. Our first clues that something might be different were in infancy. He had mild hypotonia and joint laxity, and he was delayed with some of his early gross motor milestones (sitting, pulling to stand, walking). We started early intervention physical and speech therapies at 15 months and he made rapid progress. Throughout childhood, we noticed that C.W. demonstrated some autistic features, like motor stereotypies (stimming), sensitivity to loud sounds, and intense interest in certain objects and topics, but at the same time he has always made great eye contact and enjoyed interaction with others so has not been diagnosed with autism spectrum disorder. Today, C.W. is in a regular classroom at school and is doing very well. He enjoys participating in scouts and doing taekwondo. He continues to struggle with handwriting and some other fine motor activities so he gets occupational therapy a few times a month. He has also been diagnosed with ADHD and anxiety and has responded well to medication for both, although emotional regulation can still be a challenge. C.W. is empathetic, kind, and loves animals and nature. He wants to be a zookeeper when he grows up. He also has an amazing memory! We’re astounded by his ability to remember obscure facts and football scores. We’re so proud of everything C.W. has accomplished.