Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.
In November 2017, I was referred to genetic services to talk about findings on Daniel: left-side cerebral ventriculomegaly and a maternally inherited chromosome Xq13 duplication. I was told that there was a high chance of intellectual disability. It was pretty scary as I never knew I had the same thing, and I had passed it onto Daniel.
Daniel is three years old and has stayed in hospital a lot in his short life. Daniel has a seven-year-old brother and a two-year-old sister. As a mum, I feel bad and worry about the challenges Daniel faces every day.