GIACOMO

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Hello, My son who is now 3yrs old was born with 22q11 DUPLICATION. At first we thought he was a healthy baby boy, but after 2weeks of vomitting through his nose, we knew something was wrong. We took him to Mcmaster Childrens Hospital in Hamilton and they found he had a Soft Cleft palate , laryngotrachea malasia as well as coarctation of the aorta. Reflux, Immune Defieciency, obstructive airway apnea. through his 2months between Toronto Sick kids and Hamilton mcmaster, he required a NG tube for feeding. After month s of asking questions as to why our son had all of these ailments, they informed us that our beautiful little boy had a rare chromosome disorder that was not well known. He had 22q11 Duplication. It is extremely similar to 22q11Deletion, where as 90% of symptoms overlap between the two. as time went on, Giacomos infections would get worse, he required numerous surgeries to allow the fluid buildup that was in his ears to drain, airway surgery to allow his airway to become a better opening and his soft cleft palate repaired. Our son is a fighter, but things still didnt sit right with us, his behaviour was getting worse, the aggression towards some people and not others bothered us, so with constant begging and fighting with Clinics that only took DELETION patients we were able to get them to take Giacomo on as a patient. After new testing, they found Giacomo to have a duplicated x (xp22), duplicated 7 (7q11), and a deleted 1 (1p22), both Steve and I were tested and we we re not carriers of the 22q11 or the deleted 7q11 but found to have the duplicated x (mother) and deleted 1p22 (father). After get all that unsettling news we thought that was it.. well no.. giacomo’s behaviour and social skill started to deplete. He was regressing and doing things that were so different for other kids. We took him to numerous pediatricians to determine if our son had Autism, and we were right. He has Autism. Wow what a 2 and a half year we had as a family, though times we thought …just how much more can we handle, or what else is going to happen. We look at our beautiful, bright, intelligent sweet son and think that we would never change a single thing. He is the best thing that ever happened to us, and we will be there every step of the way to support him throughout his entire life.

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