Hello, My name is Audrey and my husband is Sebastien. We are the parents of a 5 year old little boy, named Jonas.
We learned that he was a carrier of the syndrome when he was about two months old. After ten days in the maternity, days and nights full of crying and sleeplessness, significant GERD (gastroesophageal reflux disease) (which came through his nose), a hypotonic body and three stays in pediatrics for pyelonephritis, I knew that something was going on with Jonas.
First, we were redirected to an ENT specialist who suspected a velopharyngeal abnormality,
a seromucous otitis problem. Then came cardiac tests (inverted aorta and misplaced vessels leading to tracheal and esophageal compression), blood tests and a genetic consultation. At that moment, the diagnosis falls, the world collapses under my feet.
The geneticist explained to us what the genetic syndrome microdeletion 22q11.2 means, and what it can cause in our daily lives. I am stunned, more than the father, who does not realize, at the beginning, what will await us in the months and years to come. I stop working to manage my child's daily life as best I can.
Jonas is a fighter. He is strength and has an strong will. When he sets out to do something, he doesn't let go until he gets it right.
We started speech therapy at 18 months and then psychomotricity. He went to the nursery, and everything went very well. Then, he went to kindergarten with an AVS at his side.
Today we are at the doors of a seventh operating room, and not the least since it is a cardiac operation. He will be 6 years old in July, he is going towards the first grade, and we are very proud of that! He has the chance to attend a class of 14 wonderful children with a lot of empathy for our big boy.
He has a few peculiarities, which despite everything, make his charm.
Jonas is a our sunshine every day!