My name is Antonio Beerblock. I’m married and a father of two. One of my children, Jules, is affected by a rare genetic mutation in the LMBRD2 gene. As a Technical Architect and Service Manager at SNCF, I decided to use my skills and energy to create the LMBRD2.org association. Our goal is clear: to raise awareness of this condition, support affected families, and accelerate scientific research. This is both a personal and collective journey — turning rarity into strength, and uncertainty into hope.