It’s been one year since Nicholas was diagnosed with Autism and a rare genetic mutation called ZNF462. Autism was something we expected, the genetic mutation was not. Both diagnoses left me scared with different emotions, however I also felt a sense of relief. We had answers and could now get him the help he needed.

Nicholas has come a long way since last year. Around this time we received his first walker which gave him a lot of support. A few months after that he was ready to be more independent so we transitioned him to a walker that gave minimal support. Now, he’s so close to walking on his own and sometimes doesn’t even want the walker. He just wants to walk holding our hand.

Among all his therapies, we started Applied Behavior Analysis (ABA) therapy. ABA focuses on improving certain behaviors like social skills, communication, attention, focus, and self-care skills. Nicholas is learning how to mimic sounds and movements. He’s learning how to make eye contact and focus more during play. Because of these skills, he’s been more vocal and is even trying to say “hi.” His vocalizations are intentional and will make eye contact when trying to get my attention.

ABA has helped Nicholas immensely. It took a while to find a therapist who was the right fit for Nicholas. Once we did, we saw an immediate improvement in his behaviors. His therapist is a man, which is different from his other therapists and teachers who are all female. Nicholas has always gotten along with men really well so we decided to try it and it’s been successful.

Nicholas’s interest in food is hit or miss. At the end of last year we saw him lick ice cream off a spoon a number of times. He also tasted some foods like Fritos, fruit, and veggie straws. There’s certain factors that play into him being uninterested such as being sick and his constant struggle with constipation. Since starting preschool it’s been hard trying to stay healthy, so getting him to sit at the table with us has been more difficult.

Because of the autism diagnosis, we were able to get Nicholas on an autism waiver which supports us with respite, cleaning help, and a host of other services for him. We hope this will help get him out into the community and eventually start massage and music therapy.

Grace and I were also diagnosed with ZNF462. As she grows I’m learning that she and Nicholas are exactly alike. While she’s a little bit ahead developmentally than Nicholas was at this age, they still have so many similarities. They’re both sensitive on their hands and feet and with water. Grace is very sensitive to loud noises and doesn’t like crowds just like how Nicholas used to be. It was hard going back to that reality after working so long with Nicholas and trying to get him used to people. Now that he’s used to loud noises, Grace is not and we have to comfort her in a separate room whenever we go anywhere. She also relies on the pacifier during sleep and wakes up a lot during the night.

I’ve seen signs of autism in her as well, but right now it’s still hard to tell because of how young she is. I brought this up with her pediatrician at her 15-month appointment. The biggest thing we’re watching for is her speech, because if she’s not talking soon that’s concerning. She does babble a lot more than Nicholas did. Her vocalizations are starting to become more intentional as well.

Grace had a swallow study last month however they weren’t able to test anything because she cried the whole time. She was pretty attached to me at that point and had a lot of separation anxiety, which is something they see a lot of at that age. She is doing really well developmentally. She’s crawling and getting so close to pulling to stand. She has a feisty personality and loves playing with her brothers. She will be starting occupational therapy and speech therapy soon.

I’ve learned so much about Autism and genetics in the past year. It’s fascinating and overwhelming at the same time. It’s something I wasn’t expecting when I became a mother. It’s definitely hard, but I will always fight for what’s best for them. Nicholas and Grace have grown so much developmentally. We will continue to utilize the many resources offered to us in order to give them their best quality of life.