When Livi was born, her Mum, Kirsti and Dad, Brett had no idea there was anything wrong. Their beautiful little girl was born full-term and a healthy 7lbs 11ozs. She was a very welcome little sister for Sophie and, as you’d expect, they were all thrilled.

But then Livi’s family noticed that something wasn’t quite right…
Kirsti started to notice that Livi’s eyes weren’t focusing. She wasn’t responding to her or looking around when she heard noises. Doctors said her optic nerve hadn’t developed and wanted to do an MRI scan of her brain.

The scans showed that Livi’s brain was ‘underdeveloped’ but doctors didn’t know why. 
 
A neurologist said Livia might never see, speak or walk and she’d need round-the-clock care for the rest of her life.
 
Livia was diagnosed with global development delay (GDD), autism and scoliosis in her spine, all caused by an unknown mutation in one of her genes.
 

"The very hardest thing," her mum says, "is not knowing why Livia is the way she is. Still to this day, we don't know"


But Livi has defied all the odds, regaining her sight, walking at age 4 and developing basic speech. Every day she learns a new skill. 

She is a beautiful, happy, energetic little girl busy with playing and swimming lessons despite all the challenges she faces on a daily basis. 

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    Kush's Story

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    Lexy's Legacy

    Justine had never thought much about genetic diseases until her granddaughter, Alexis, died of one at just 3 ½ days old.

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