Family

Receiving an LMBRD2 mutation diagnosis for your child often feels like an emotional tsunami. One moment, you're in your usual routine, and the next, you're thrust into a world of unfamiliar medical terms, dizzying uncertainty, and questions without immediate answers. The shock, fear, anger, grief—everything you're feeling is absolutely normal. You are not alone, and this reaction is an integral part of adapting to a reality you never imagined.

Discover the touching story of Mélanie, 32, living with severe intellectual disability linked to an LMBRD2 mutation. From her first signs at birth to her adult life, her journey illustrates the importance of multidisciplinary support: speech therapy, psychology, physiotherapy, and adaptive sports. Despite daily challenges, Mélanie leads a fulfilling life thanks to her mother's support and day care facilities. A story of hope for families affected by this rare mutation.

When one child in the family has LMBRD2, the reality is that family life changes for everyone including brothers and sisters. As parents, we're often stretched thin just managing medical appointments, therapies, and daily care. Meanwhile, siblings are trying to make sense of their own complicated feelings and changed family dynamics. This guide isn't about creating a perfect situation—because let's be honest, that's not realistic. Instead, it offers practical strategies for s

Many children with LMBRD2 gene mutations face significant challenges in acquiring verbal language. This absence of oral communication impacts their ability to express their needs, interact with others, and develop social relationships. For parents, this can be a daily challenge requiring patience, adaptation, and support. Fortunately, several approaches and tools exist to help these children communicate differently. In this article, we present the main solutions used by famil

Receiving a diagnosis related to the LMBRD2 mutation can be overwhelming, especially given the rarity and limited understanding of the condition. This guide aims to provide clear, practical advice and support for families navigating this journey. While we are not genetic experts, our goal is to offer reliable information that is accessible and reassuring. Our association is currently the only one in the world dedicated to this condition, and scientific research is still limit