The story of Jade and Family
Georgia is 15 years old, she’s funny, beautiful, loving and unique; she is completely non verbal, and to put it bluntly, has the mental age and abilities of a 1-2 year old; she also has a rare gene mutation in the gene DDX3X.
However, for almost 12 years Georgia was given the diagnosis of Global Development Delay which is a catch all way of saying that she’s not developing at the rate of other children. We didn’t know if it was something that was passed on, we didn’t know if she was likely to have a shorter life than most or if there were other problems in her future. She had already had a heart operation before she was one, hearing operations, physiotherapy and speech therapy for years and many (fantastic) specialists trying to solve for something we didn’t quite understand.
In August 2016, we got the results of research and had it confirmed that Georgia was born with DDX3X syndrome. DDX3X syndrome was a recently discovered disorder in females with developmental delay and/or intellectual disability. The first girls and women with this disorder were reported in 2015. We could find around 100 girls last year through facebook groups and networks. The number has increased yet remains less than 300 in the world. Rare is indeed rare.
DDX3X syndrome occurs when one of the two copies of the DDX3X gene has lost its normal function. This is caused by a “spelling mistake” in the gene. These types of change happen naturally and are not due to lifestyle or anything we did as parents. A spontaneous change in the DDX3X gene cannot be prevented. No environmental, dietary or lifestyle factors are known to cause a spontaneous change in this gene. No one is to blame when they occur.
Georgia is still the greatest blessing to our family. And it is important that days like rare disease day give other family’s hope that it will be okay.