Finding cures for children's genetic diseases

Livia

When Livia 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.
 
Livia’s family first started to notice that something was wrong when Livia was only a few weeks old. Her eyes didn’t seem to focus. Doctors said her optic nerve hadn’t developed and she needed to have an MRI scan of her brain, which showed Livia’s brain was ‘underdeveloped’, but it didn’t explain the cause.
 
A neurologist said Livia might never see, speak or walk and she’d need round-the-clock care for the rest of her life.
 
“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. Last year, 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.
 
That’s why it’s so important that CMRI is supported. With no guaranteed government funding, CMRI’s world-leading researchers rely on the public to be able to continue vital genetic and medical research.
 
The road ahead for Livia will be made up of small steps forward, but she is determined to get there and lead as normal a life as possible.
 
One day we will beat childhood diseases. Until then, we need your support.

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