My name is Nathalie and my companion Samuel and I have a three year old boy, Andrea, who has the 22q11 deletion syndrome. We found out about it on the seventh month of pregnancy. We were breathless for a week, but then we started to live again, clinging on to the desire to meet him and to support him as best we could.
The diagnosis took us by surprise. A first anomaly had been detected at the beginning of the pregnancy, the “clubfoot”, which means that his two feet were twisted. Other than that, everything was fine. However, we realized that this possibly isolated problem could also be a sign of a more general concern. The bilateral nature of the problem justified the start of a protocol. One examination led to another, and other anomalies were identified: thymic hypoplasia, A.S.D, excess of amniotic fluid. It was a late amniotic fluid test, guided by the ultrasounds realized beforehand, that finally allowed us to identify the problem. On the day of the results, we understood that something was wrong the second someone came to get us in the waiting room. We were starting to accept that our baby might have a more serious problem, despite all the vitality it was already showing.
The obstetrician was extremely benevolent, as were pretty much everyone who took care of us in the Basque Country and in Bordeaux. She listed some possible consequences that could be very heavy, but all were only possibilities. For each symptom she always said "he could have this problem or just be like you and I". One of the hardest moments for us was when we learned that we had the option of terminating the pregnancy. We had to go through painful but necessary discussions. We decided to contact the French “Génération 22” association immediately. We were directly in contact with the delegate of our region, who told us about her son, also affected with 22q11. We had several conversations, where we know that we must have asked some awkward questions, but we needed to understand.
Then we met a geneticist. She told us about the fact that there are as many forms as there are people with 22q11, which allowed me to move forward. I could finally imagine that despite numerous question marks, everything would eventually be okay. The ultrasounds also showed that many things were fine, despite abnormalities. I was not hoping for the syndrome to disappear, we had already accepted the idea that our child would not be like others. I was just hoping that my son would have the best odds to enjoy his life. After a premature birth at seven and a half months, Andrea showed us that he was able to swallow, even if we were prepared for the worst. He was out of the hospital after one month of neonatology, which set a small record.
Andrea is deserving and very determined. He does not make things easy for us but he is funny, which makes up for it. People often told us that they can’t tell that he has 22q11, but I am always shocked by his resemblance to other children with the syndrome. After a difficult first year, where we mainly dealt with his immunity problems and the correction of his feet, his care got lighter. He now goes to the nursery and he will start school in January. His biggest problem today is his language delay, which frustrates him very much because he understands without difficulty. Having a prenatal diagnosis really helped us, we were able to anticipate some things by learning some sign language, which appeared to be indeed very useful. We are worried about what we still have to overcome, but we are even more happy to see him grow.
We realize how lucky we are to have our son and we do not worry as much as we used to about smaller problems. Actually, it is not as hard as we first pictured it. The syndrome is part of our son, so we welcomed it too.