The story of Jody
What I remember so clearly about Avia when she was just an infant was her face when she smiled, it was like sunshine. She still does shine and brighten even our darkest days.
Avia Rose is now a 5 year old bubbly little girl who loves to socialise, be around other people and go places. She is different and beautiful, happy and a loving soul. We love her dearly.
Throughout pregnancy, there were no major indicators that anything was going to be wrong. After birth she had low blood sugars and jaundice so we stayed in the special nursery. We left the hospital on the 6th day, passing health and hearing checks upon leaving. We were sent home with what we thought was a healthy baby girl. Two weeks later her reflux came on severe and after a few months of her having sleepless nights and constant re-feeds after vomiting, we found a doctor who believed that she was having reflux out of the normal for babies and gave her medication for her relief. He also said he thought there was more than reflux affecting our precious little girl and recommended genetic testing for genetic syndromes. It was there at that appointment when she was 4 months old that we were told by that paediatrician, “she will never be like you or I” I remember that so clearly I was shocked because I just thought her development delays were from her reflux problem.
It was later found that she had a genetic syndrome from a random occurring gene change on her DDX3X gene which occurred at the time of conception.
Avia is affected by her genetic syndrome on a moderate to severe level and she has intellectual disability. On brain MRI it was found that she has a brain difference, her Corpus Callosum is posteriorly thin. She has had some mild seizures from time to time and still suffers from reflux. She has osteopenic bones which give her some pain from time to time and an over pronation of the ankles which she uses special inserts in her supportive shoes to help her stand better. All of these hinder her balance and she is not able to walk independently so she uses a posterior walker at home and a wheelchair for long distances and to transport her in the school taxi bus to her special school.
Avia is mostly non-verbal but communicates with hand signs and is learning LAMP electronic communication aid well. She is getting very independent with things but in her most recent developmental assessment it indicates that she will likely need life-long one on one support.
Avia Rose has 4 brothers! Two are young adults, a 6 year old brother and a toddler brother who is 2 and she loves spending time with them all.