"Every family deserves to be supported. Our fight is to ensure that no one faces rare disease alone."
The story of Margot, when life changes overnight
Margot, born on January 5, 2009, lived her early years carefree, growing up without a worry. But at 5 years and a few months old, her life took an unexpected turn: severe epileptic seizures, resistant to all treatments, changed everything. After months of struggle, a four-day coma plunged her into forced silence. When she woke up, Margot was still there, conscious, but the world around her had become a challenge: she could no longer speak, eat or move.
A journey filled with unknowns and hope
Faced with medical incomprehension, CHU Necker in Paris tried everything, without success. In 2015, her family, refusing to give up, turned to Chinese medicine. A first hope was born: Margot regained the strength to sit up on her own. Then, in August 2015, her mother entrusted her to a specialized neurologist in Reims. There, thanks to relentless rehabilitation, she accomplished miracles: her first steps, a smile, the pleasure of eating again. But in September 2016, her condition deteriorated again, and 18 months of hospitalization at CHU de Reims brought no answers.
A relentless fight
In search of solutions, her mother crossed borders. In Germany, a diagnosis of Lyme disease was made, followed by costly treatment (€90,000 for four months of hospitalization). Yet Margot returned to France without a clear answer. Despite some progress, the disease persisted, invisible and misunderstood.
Margot Pour la Vie: a wave of solidarity
In November 2018, the Margot Pour la Vie association was born to support her and her family. Quickly, her story inspired other hearts. Friends, volunteers, all united by the same desire to break the isolation of rare diseases, joined this human adventure. Margot became a symbol of hope, far beyond her own fight.
A rare diagnosis, a light in the darkness
It was not until November 2024, after ten years of medical wandering, that the truth finally emerged: Margot suffered from a rare genetic disease linked to the FGF12 gene, identified in only four people worldwide. She was the first in France. An answer, at last, but also the realization of a long and solitary fight.
A lasting legacy
In April 2025, Margot left us, but her legacy lives on. Her story, marked by the perseverance of her loved ones and the solidarity of those who accompanied her, reminds us that even in the most difficult trials, hope and love can light the way. Today, Margot Pour la Vie continues its mission for the Rare Disease HQ, to support other families in their quest for answers and support.