Who we are
DDX3X Support UK is a UK based information and support group for patients and families affected by the DDX3X gene mutation.
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.
Our Medical Advisers
DDX3X Support UK are very fortunate to have recourse to Medical Advisers on whom we can call for advice in the various clinical and research fields involving the condition. The following list shows those professionals whose past and present guidance is gratefully acknowledged.
Professor Ruth Newbury-Ecob
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
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’.
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