Nia's Story

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.

Nia sees the world in a different view to everybody else - the smallest of things can set her off and life can become too overwhelming for her at times. On top of that, sleeping is a massive struggle, which in turn affects  Nia’s behaviour and development.

“We have had to take it in our stride as we cannot change things. There are days, even weeks where it really takes its toll on us as parents. The challenges can become all too much and make you feel as though you have nothing left in you to keep going. But we would give anything for our beautiful daughter – we will never give up and always continue to seek information to better her life.”

Despite her issues, Nia is a gorgeous and loving child who strives to learn and is currently receiving therapy to aid her development and help her deal with her day to day challenges.
 
“Today’s children are our future; if we can make a difference now to ease the difficulties for someone else later it would truly be amazing,” Sarah said. “Children with genetic conditions are worth no less; they deserve the same life as any average child, therefore this research is necessary to make that happen.”