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 happiness 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 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 the only boy 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!
Braylee was born February 2, 2014. Pregnancy was normal, but she decided to make her appearance at 36 weeks. She spent 3 weeks in the NICU due to failure to thrive, low blood sugar, breathing abnormalities and two different CHDs.
We finally got her diagnosis in November 2015. We have since become part of an amazing group of families and caretakers. Lena recently celebrated her 2nd birthday by learning how to crawl!
Kate is globally developmentally delayed, non-verbal and has autistic characteristics. She attends school in a severe/profound program where she continues to make slow but steady progress.
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