Eva is a happy, sociable and determined little girl who can’t wait to put on her school uniform in the morning and is very close to her little brother Albie.
“She loves being outside, trampolining and horse riding at our local Riding for the Disabled centre,” says her mum Carla. “And Eva loves cooking – real or pretend!”
But life is challenging for Eva who has a rare condition known as ataxia. She has problems with strength, balance and co-ordination, tires easily and suffers from a type of tremor that becomes more pronounced when she moves, for instance when reaching for a toy. Ataxia can be progressive, leading to severe disability, robbing children of the ability to walk and affecting their speech. It can also be life shortening.
When Eva was first born, there was no cause for concern. “When you have a baby and the baby is healthy, you never, ever think that’s going to change,” Carla says. But Carla and husband Adam grew concerned when they noticed Eva’s hands shaking. And when she struggled to crawl, stand and walk they asked their GP to refer her for tests.
Aged just three, little Eva endured a lumbar puncture under general anaesthetic and a brain scan. Eventually, genetic testing led by Professor Andrea Nemeth identified an anomaly that was not hereditary – and had never before been described by doctors.
Not knowing what lies ahead for Eva is isolating: “People keep telling us that they’ve never come across a child like Eva – everyone from nursery staff to the neurologist. That’s really hard,” says Carla.
Carla and Adam hope that more research will help give a clearer picture of Eva’s future: “It’s not just for Eva’s sake but for other children, too,” Carla says. “There are so many rare conditions, and so many children are affected. It’s very, very important.”
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