Our first child Avery was born on Oct. 1st 2011. She was diagnosed with bilateral clubfoot and a small VSD. During that time we could not link these conditions through family genetic history so we just assumed it was some kind of anomaly out of our control. Avery struggled to nurse and stayed under the 5th percentile for her age group. Around the age of 5 her pediatric orthopedic surgeon sent us to genetics for testing to find out if Avery had some kind of collagen genetic issue since her patella would slide out of place with little to no force. The results came back that she has 22q11.2 Deletion Syndrome. Shortly afterwards we had her first annual multidisciplinary clinic visit at the 22q and Endocrinology clinic at Children’s Mercy Hospital in KC. We watched Avery’s health very closely since this diagnosis.

We pushed for an MRI because she had developed daily headaches. The MRI found sever spinal stenosis and platybasia. Avery had an urgent CT scan that confirmed the severity of these conditions. In May 2018, about two weeks after the initial MRI she had a lifesaving cervical spine surgery that took over 9 hours. The neurosurgeon widened her foramen magnum, cut off the back part of her C1 vertebra, used traction to shift her head up, and place two titanium rods with a plate at the base of her skull. The surgeon also removed one of her rib bones to help aid in fusing. She unfortunately developed staph infection while in the hospital which caused for a secondary surgery. The infection had reached the screws and pushed two of them out. The surgeon had to replace the screws and thoroughly clean the surgical site which ended up being another 4 hour surgery. Due to the infection Avery has been on antibiotic therapy since May of 2018 and will continue for another few months.

Towards the middle of March 2019 we will be traveling to California to participate in a study at UCLA for 22q individuals in regards to mental health. Avery is a very happy, caring, fun, and determined little girl. She loves with all her heart and gives 100% all the time. We are very proud to have her as our daughter.