Hi, I’m Clare, mum to 3 kids, the youngest being identical twins Pip and Alix. They were diagnosed with DDX3X when they were 15 years old in 2015. Along with Maria and Sam I attended the ‘Rare communities’ course run by Genetic Alliance UK with the aim of setting up this patient group.

I’m mum of Alex, an only child who was diagnosed with DDX3X syndrome in 2015 when she was 8. In an attempt to find other children with the condition I started a closed UK Facebook page for families in the UK affected by DDX3X. Clare and Sam joined and after attending a course in building rare communities (run by the Genetic Alliance) we decided to form a patient group.

Hi I’m Sam, mother of three children. Issy is my middle child and was diagnosed with DDX3X in 2015, aged 13 following her participation in the DDD study. Having found Maria’s Facebook group and meeting Clare through this group, the three of us have been helped enormously by Genetic Alliance UK to form a Patient Group and this has been successful in finding and connecting with other parents of children with DDX3X in the UK.

Professor Ruth Newbury-Ecob, MB ChB, MD, FRCP, FRCPCH Consultant Clinical Geneticist at University Hospitals Bristol and Specialist in Genetics of Rare Diseases Research.

Lot Snijders Blok is a clinical geneticist in training within the Human Genetics department of the Radboudumc in Nijmegen. Currently, she is working as a PhD candidate on a project about the genetics of neurodevelopmental speech and language disorders, a collaboration between the Radboudumc and Max Planck Institute for Psycholinguistics. She is first author on the first report on DDX3X entitled ‘Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling’.

Kate Baker is a consultant clinical geneticist and a cognitive neuroscientist at the MRC Cognition and Brain Sciences Unit, University of Cambridge. Her work focuses on learning and mental health in people with rare genetic disorders. Her research group has carried out one project so far with DDX3X-diagnosed young people and their families, focusing on social abilities and anxieties.