B.
Our son was diagnosed at 2 with NRXN1 deletion as well as with 10p14.1 deletion. We are yet to find another child with both deletions. We did genetic testing after he still wasn’t speaking at 2. He crawled at 5 months, walked by 8 months and can climb better than any other kid his age. He presents with a split profile - his strengths are very strong and his weaknesses are showing a lot of challenges which was why we found his diagnosis such a shock. In spite of his challenges we are seeing amazing progress with his ability to communicate, problem solve and learn through Neurorehab, mainstream therapies like speech & OT as well as adopting an anti inflammatory diet to help his detox pathways, sensory differences and gut issues. His personality is full of life, he is very affectionate, loves to play with other kids and adores his siblings. As well as being full of cheek with a great sense of humour, he brings so much joy to our lives and has taught us so much.