22q11.2 deletion syndrome, commonly referred to as DiGeorge's Syndrome, is a chromosome abnormality. It is caused by a missing piece (a deletion) of chromosomal material on the 22nd chromosome. As a result of this deletion, approximately 50 genes are missing. It is present from the time a child is conceived and can be found in every cell in the body. Since genes are the blueprint for the body and determine how body parts are formed and how they work, this can wreak havoc on the body. For Aiden, it caused noticeable health problems like spina bifida and a heart defect.
22q deletion syndrome occurs in approximately 1/4000 people and may or may not be genetic. My husband and I both had genetic testing done and neither of us have the chromosome abnormality. 22q affects everyone differently and no two are alike. Some people have very few symptoms and others (like Aiden) have many and require many surgeries and hospitalizations. There are currently known to be 180+ abnormalities/health difficulties associated with 22q including facial feature differences, heart defects, palate differences, low calcium, thyroid problems, difficulties with feeding, swallowing and breathing, developmental delays and behavioral problems such as ADHD and autism.
There is such a wide range of health and behavioral problems with 22q. We will not know what types and how severe Aiden's learning and behavior difficulties will be until he is older. We take this journey one day at a time and empower ourselves through educating ourselves and meeting other families that are affected by 22q deletion syndrome. We are blessed to have a 22q Center at Nationwide Children's Hospital that has some the of the most respected and knowledgeable doctors that specialize in 22q. Aiden will have a wonderful team of doctors taking care of him as he gets older and a wonderful support system through the families we have met that have children that are awesome like he is! To learn more about 22q deletion syndrome you can check out these websites: