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Imogen's Story

Imogen has Myhre syndrome, a genetic condition that affects many functions of the body. The gene that is mutated, SMAD4, is part of an important cell-signalling pathway, which allows cells in the body with communicate to each other. When the communication (signalling) is abnormal, as is the case with the faulty SMAD4 gene in Mhyre syndrome, it affects the development of many body systems – which explains why Imogen has many varied symptoms and features. Here Imogen's family talk about what it's like living with a rare condition.