I'm Raphaël, I'm 9 years old and I live with 15q13.3 chromosome microdeletion, a rare genetic mutation
Raphaël is nine years old. He loves the Ghostbusters, dreams of having a pet dog, and could stage “Back to the Future” scene by scene with his Playmobil. But what really makes Raphy special goes beyond his love of superheroes; it’s that he himself is one!
In the few first months of his life, Raphy was fighting a silent combat. Born with a rare genetic mutation: a 15q13.3 chromosome microdeletion, he faces immense challenges every day: developmental delays, an intellectual disability, trouble expressing thoughts and emotions – even when they are simmering hotly inside.
But what he can’t always express in words, he conveys with his smile, contagious sunny personality, and a quiet strength. His mettle has been tested; he has struggled to learn the basics of life, such as feeding himself, drinking, walking and talking. Each day is more efforts made toward gaining autonomy. About everything he has accomplished – learning to ice skate, keeping up at school, picking himself up after a setback – Raphy has repeated the words of his grandpa André: “I can do this. I am doing my best.”
To his parents, Raphaël is a true X-Kid — a tender yet powerful nod to the X-Men universe, those superheroes born with a genetic difference that makes them unique, sometimes misunderstood, but deeply courageous. For them, it is a symbol of identity, of embracing difference, and of inner strength. It reflects their son’s youth, his uniqueness, and above all, his immense heart. Most importantly, it's a way to celebrate what he carries within him, without letting it define him.
With appointments in recent years at CHU Saint-Justine and Centre Marie-Enfant for physiotherapy, ergotherapy, physiatry, and special education, he can now attend school at Centre François-Michelle, which is adapted to his needs and where he feels valued and proud of himself.
Raphy is not “sick” in the conventional sense. Thanks to his zest for life and perseverance, he is growing up, learning, and making progress. He is a ray of light, a “little Buddha,” as his parents Mélanie and Yannick like to say. He is a child who reminds us all that there are many ways to be strong.
It's all made possible by the CHU Sainte-Justine Foundation!
For the families of our child heroes, participating in the 24h Tremblant is an opportunity to celebrate life, courage and hope.
Thank you for being an important part of this vast wave of solidarity!
You’re giving children hope for a brighter future through various programs and research projects funded by the 24h and its beneficiaries: Fondation Charles-Bruneau, CHEO Foundation, CHU Sainte-Justine Foundation, The Montreal Children’s Hospital Foundation and Fondation Tremblant.
Your donations matter. They make a real difference in the lives of Raphaël and thousands of children.