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Québec, Canada

Anthony was born happy and healthy on March 29, 2004 in St-Georges in the province of Québec in Canada. His big sister Laurie was 2.5 years old and could not wait to play with her new baby brother!

Anthony was a very calm baby, rarely cried, let himself be led by life. He had a bright gaze, a gentle smile but did not seek company or initiate interactions and he slept a lot. Anthony was always watching and smiling. He was such an easy baby that it became a cause of concern, I began to doubt the normality of his development.

After sharing my thoughts and observations with his doctor thus began tests, exams, and consultations with specialists. In 2006, we learned that Anthony had an overall developmental delay. Therapies then began: physiotherapy, occupational therapy, speech therapy.

In 2007, we heard about Dr. Jacques Michaud’s research project – which was nearly a 4 hour drive from our home. In 2014, we finally got a call from Dr. Michaud saying Anthony had Syngap1.

Anthony just turned 17. He has the maturity of a small child in an adult body with the character of a teenager. He goes to school and attends organizations that offer respite to parents. Above all attending these organizations allow him to have a social life. His language remains poor in vocabulary words but he understands more and more things and seeks to be understood by all means. He loves to “ask” and find that it earns him a reward! Anthony does suffer from epilepsy. Every day has not been easy he often displays anger and crying and a lot of uncertainty about his future. But in general, Anthony is a very happy teenager.

The love we have for him, he gives us back a hundredfold and only for that, he fills us with happiness.