Rose Lavoie

“There is hope. It takes an entire community so that children like Rose can have a better life, thrive, and simply be children like any other.” - Bernard, Rose’s father 

 

 

Letters and numbers

The words are spoken, but their meaning has yet to sink in. Letters. Numbers. Sounds without sense. CTNNB1 syndrome. Marie-Ève and Bernard sit frozen across from Rose’s doctor. Their 20‑month‑old daughter has a rare genetic condition that affects her motor and cognitive development. Uncertainty floods in. Will she ever walk? Will Rose speak? Their world shifts. Quickly, pragmatism takes over the overwhelming emotion. They will learn. They will do everything they can to help her. It is the beginning of a long journey for their daughter’s well-being. 

A resilient little sunshine 

From birth, questions surrounded Rose’s development. During prenatal ultrasounds, a slight disproportion in the size of her head had been noted, but nothing alarming. In the first days of her life, tests were conducted at Sainte‑Justine Hospital, and genetic follow‑up was initiated. At four months, her strabismus and difficulty holding her head confirmed her parents’ concerns. These could not be coincidences. 

It was not until the age of 18 months that Rose received a diagnosis: CTNNB1 syndrome. The news was devastating for her parents, who had to face a new reality and uncertainty about her future. Despite everything, Rose fights every day to move forward. She learned to walk at 21 months: a precious victory despite the challenges. In April 2024, a foot fracture worried her parents, who feared she might lose the progress she had made. But within a few weeks, she was back on her feet, showing remarkable resilience. 

A daily life filled with challenges 

Today, Rose’s development remains complex. Her language disorder often prevents her from expressing herself, leading to frustration. She attends several medical appointments each week and wears tibial orthoses to help her walk. She cannot run or jump. Her medication, while necessary, sometimes makes her irritable and drowsy. Her parents do everything they can to give her the best possible chance to progress. Between physiotherapy, occupational therapy, speech therapy, osteopathy, ophthalmology, neurology, physiatry and ENT appointments, daily life is demanding. Family balance can be fragile, and Rose’s frequent emotional outbursts also affect her older sisters. 

Despite advances in modern medicine, there is still a long road ahead. Only a small number of CTNNB1 cases have been identified worldwide, limiting available treatment options. Hope lies in research and the development of new technologies. 

Rose is a true little sunshine. Her smile, determination and curiosity define her. Every small victory is a tremendous achievement. 

“I would like to tell those who give to Enfant Soleil that their contribution makes a real difference in children’s lives. If Rose had not had access to all this care, she might not be here today. It can make such a difference for her future.” — Marie‑Ève, Rose’s mother 

Thanks to your generosity, there are beautiful things on the horizon for children like Rose. 

– Bernard, Marie-Ève, Alyssa (15), Jade (13) and Charlotte (5)