Herve’s story

My story with Di George syndrome begins in 2009 following a consultation with a pediatrician for my 3 year old daughter.

We consulted a pediatrician because my daughter, born in 2006, had a language delay. This doctor made a connection with a former patient. She asked us to do a speech therapist check-up before starting kindergarten and then a genetic test.

The genetic test revealed that I had transmitted the micro deletion to my daughter. We are the only known carriers at this time. We had previously lost a child at birth due to a heart problem. My daughter and I had hypocalcemia at birth. She had to spend a week in the neonatal unit in primary care.

After the speech therapy sessions, she did not have any particular difficulties. She is very comfortable in public, and orally. She might even have skipped a class. She is very good at foreign languages. She should go in Spain with school next year and dream to travel in USA. She read a lot of manga for the moment.

At the end of middle school, she had difficulties in mathematics and science. She has to work hard to succeed in these subjects. She needs to be motivated but is able to work a lot on her own.

Then we had 2 births without any particular worries, in any case no visible symptoms. But we didn't do a genetic test. They are even 1 year ahead and are rather precocious. We even have questions for tour last boy (HPI).
Our 3 children play music in an orchestra and the last 2 practice football and judo.

For my part, I try to live with the micro-deletion by constantly asking myself what is or is not linked to the syndrome since my childhood (hypocalcemia at birth, heart murmur, speech therapy, stomach aches, epiphysitis). Currently, I have a treatment because of the thyroid and I am followed for melanomas.

I took up the sport when the last one was born trying to find the motivation to do it. Rather anxious and not very confident in myself, I alternate periods with energy and others without will or moral in any case with a permanent questioning. This year, I stopped all outside activity including music that I practiced in orchestra and other since primary school (clarinet, bass clarinet).

I'm looking to do something with this micro deletion but I haven't found anything yet. Last July, I took part in half marathon (22 ,8 kms) Marvejols Mendes for people with 22q11! Done but hard without practice!