Hello, my name is Gwenaelle, I'm 29 years old and I've been lucky enough to have two children (and the best choice): a 7 year old boy, Enzo, and a 17 month old girl, Keyci.
Our story is short because at the moment my daughter is only 17 months old but we have already been through a lot.
After 8 months of pregnancy, I was told that there was a problem: I had too much amniotic fluid (polyhydramnios) and I needed a more thorough ultrasound. So I was sent to Marseille. All my daughter's vital organs were fine but she was not swallowing. I was told that the file of my pregnancy would be discussed with several doctors. A week later, they asked me if I wanted to proceed to an amniocentesis. We took a day to think about it and we decided to refuse because there was too much risk of inducing the childbirth. We knew we will keep this baby no matter what we were told.
On October 2, 2019, I give birth to my wonderful baby girl. She was born quickly, a dream birth. In short, we are the happiest.
Then, we are announced that we are moving to the Neonatology department because Keyci was having difficulties, she was not feeding and her saturation needed to be monitored.
21 days of hell...
21 days of anxiety without any answer.
In November during a routine visit to the pediatrician, I am welcomed by 6 doctors who tell me that they have the genetic results: Keyci has the Di George syndrome also called the 22q11 microdeletion.
From this moment, everything followed: an appointment with the cardiologist for the dysfunction of an artery and a heart murmur, another with the physiotherapist because of hypotonia and an appointment with the speech therapist for these swallowing problems and also because she had a distended soft palate with sub-mucous cleft palate. We had the impression that everything fall on us, it was hard to bear.
It took us a long time to find testimonials. I really think it is important to raise awareness about this syndrome.
Today, my daughter is progressing. She has psychomotor retardation and does not speak yet but we are proud of her and of every step she takes. She also communicates via sign language. At the beginning, we used to compare her with the other children around us, but now we don't anymore, she is just like she is.
We talk about the syndrome to our friends and family. It's important for me to make as many people aware as possible so that there is no taboo. I want to say courage to all these parents and thank you to these wonderful children for fighting for us every day.
A beautiful fight of love.
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