JUANRetrun to 22q Stories
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Juan was diagnosed with 22q11 Deletion Syndrome shortly before Thanksgiving 2008. He was 3 1/2. Most people would have been devasted by the news. I was happy to finally have a name for my son’s condition. Juan has had issues since before he was born. Of course, no one thought there was anything wrong. The journey began September 2004, when I was 5 months pregnant. On my routine ultrasound, my ob/gyn noticed the baby had enlarged kidneys. The technical term was bilateral hydroneophrosis. Also, there was also excess amnotic fluid. In my opinion, these should have been sufficient signs that there was something amiss. Other than closely monitoring me, nothing more was done. When Juan was born in late January 2005, he was placed on antibiotics prophlactically. However, 1 week into his eventful life, he had a fever at his regular checkup. The pediatrician put us in the hospital to find out what was going on. Juan endured a spinal tap and a cardioecho, both being normal. Three days later, we were discharged from the hospital. Two months later, we were back in the hospital for a bronchoscopy. Juan had noisy breathing, aka stridor, from the start. His doctor said it would go away with time. It never did and we were referred to a pediatric pulomnologist. He needed to do this test to confirm what he suspected: asthma. Well, it was more than asthma. The specialist admitted us to the hospital, again. It was St. Patrick’s Day. At that stay, it was discovered that Juan had pentration of liquids into his trachea but he didn’t aspirate. Eventually, we were discharged with Juan on a NG tube. He was on that for a week until he had a swallow study. As long as we thickened his formula with thickener, Juan was allowed to be taken off the feeding tube. The next several months were filled with doctor appointment upon doctor appointment. At 6 months of age, Juan had his first of many ear infections. Concurrently, his kidneys were found to be “a variation of normal.” At least that was one specialist we didn’t have to see anymore. In October of 2005, at a followup swallow study, it was discovered that Juan had a diverticulum in his esphogus. He was admitted to the hospital immediately. The geneticist was brought in and Juan was tested for Prader-Willie syndrome. The pediatric pulmonologist wanted to operate to remove the diverticulum. At 8 months of age, I wasn’t very keen to having my only son operated on. We sought a second opinoin at the second of the three hospitals we have been to. The ENT we saw there decided that Juan should have his tonsils and superior adenoids removed due to persistent strep throats. So, at 18 months of age, my son had the first of three surgeries he would have had. Complications from the breathing tube ensued and Juan was placed in the PICU on a ventillator for 3 days. During this time, Juan was receiving speech and occupational therapy from Early Intervention. He continues receiving these therapies to this day from school and additional ST from a private facility. He has low muscle tone, suffered from constipation until he was 6, didn’t start walking until he was 15 months old and didn’t start speaking until he was 3. Two years ago, he had a submucosal cleft palate repair and 10 months ago had a dynamic sphincteroplasty. His speech today is the most intelligible yet. Today, Juan is an inquisitive and energetic 2nd grader. He has ADHD and I suspect he has a learning disability. This is being evaluated as we speak. He is on a soccer team and will be making his first holy communion in May 2013. Our journey continues.