JULIANNARetrun to 22q Stories
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Julianna was a beautiful baby girl who seemed to take a little longer to reach her milestones. We did not suspect that Julianna had a genetic defect at all; up until that time she had some minor issues with a small VSD and nasal regurgitation/low weight gain, which was helped somewhat with reflux medications. When she was 18 months old we started to worry when she could speak but could not pronounce hard consonants, so we took her to the ENT. We were relieved to confirm she could hear, but she would need tubes due to all the fluid in her ears. While there, she had a juice box and had some nasal regurgitation in front of the ENT. He asked to examine her mouth and noted some abnormalities with her palate. Later, I decided to Google some of the terms the doctor used and stumbled across an article that mentioned a genetic defect that displayed itself through several seemingly unrelated issues including several Julianna had: palate abnormalities, delayed development, certain facial structures, feeding issues, and VSD. I asked the ENT to run some tests and thus learned that Julianna had 22q11.2 Deletion Syndrome. Julianna is seven years old now in second grade and thank God she is doing well despite the syndrome. Her VSD has closed naturally, and her ENT keeps a eye on her ears, which still have small holes in them. We have also taken advantage of Georgia\’s Babies Can\’t Wait program for preschool therapy and she continues to receive speech therapy twice week in school. She is healthy, but small for her age, and she enjoys playing with her friends, arts and crafts, and girlie activities, although she has been influenced by her older brother to watch Pokemon, stand up for herself, and play with bugs. Focusing on school work and teaching her to control her impulsiveness is now our big struggle, and we are currently working with a neuropsychologist to find out which learning and socialization strategies would work best for her. We try treat her like a regular kid, but we do keep in mind that there may be more challenges down the road. In spite of this, we hope that the future will also bring advancements in technology, medicine, education, and more recognition about the syndrome. Most importantly, we are confident that with the love and support of her family, Julianna will have a bright future ahead of her.