Mason was diagnosed in March 2017 with DDX3X and has been confirmed as ‘de novo’. He is now 7 years old and had a rocky few years but is the happiest little boy you could ever wish to meet.

He had a rare heart condition at birth and after having open heart surgery at 10 days old he’s has proved his strength and determination.

A brain scan diagnosed brain damage at 18 months old and he was diagnosed with cerebral palsy. Time and further studies will tell if this is still the case or whether DDX3X is the only cause of his difficulties. I wanted to wait to confirm he was definitely ‘de novo” before sharing his story as I am under the impression he may be one of very few boys who hasn’t inherited the gene. If this is the case I am more than willing to share further information to help other families in future. After the initial shock of having a genetic diagnosis we are now happy that we are part of a friendly and supportive network, something we have needed for many years!

Join our Facebook Group


Join the DDX3X Registry

Contribute to research into this rare condition.