When Nia was born, her parents Sarah and Domenic, thought she was the absolute perfect, chubby bundle of joy.
Four months passed, and Sarah and Domenic realised something wasn’t quite right. From delayed milestones, lack of language, seizures, low muscle tone and unusual behaviour, doctors affirmed something was wrong.
When Nia was two-years-old, she was diagnosed with DUP15Q syndrome.
DUP15Q is a rare genetic condition that causes Nia to have epilepsy, hypotonia, developmental delay and autism. Nia struggles with the simple daily tasks that other children enjoy and gets frustrated at not being able to do things that other children can do.
Nia battles with absence and tonic seizures on a frequent basis. Every time Nia has a seizure, it causes her to regress on skills that she previously had, meaning that it is a continual re-learning exercise for her.
“Despite her being medicated at this stage, we have not been able to gain full control over her seizures meaning Nia has a long road ahead of testing – EEG’s and MRI’s to help us gain some more knowledge,” Sarah said.