The brain disease robbing Woonona girl of a childhood

Chloe Saxby is a little princess with a great big smile, a fairy garden in her backyard and Minnie Mouse enjoying pride of place at the bottom of her bed.

A year ago she was riding her bike, running, jumping and dancing. Like any other three-year-old she had the world wrapped round her little finger, bounding through each day full of love and life. She's now a different girl. A genetic brain disease is attacking her motor skills and making it hard for her to walk and talk.

As she makes her way out into the sunshine down the concrete ramp on her new walker that she calls "Green-Green", her mother Nyree hovers close behind, afraid she'll graze her feet as she drags them along the hot cement.

Chloe is eager to show off her new fairy garden, with its great big red toadstool in the centre and pretty flowers along the edge. Tinker Bell would be impressed. But we don't linger long. The day is warm and Chloe has to hurry indoors in case her core temperature rises above 37.5 degrees: an event so dangerous it has the potential to set off a chain of events inside her head that, worst case scenario, could send her into a coma and maybe lead to death.

Her life has changed drastically. Now 4, Chloe is constantly irritable, a symptom of her debilitating condition. The Woonona girl struggles to walk even with a frame and a fever or infection can set her back months. Her speech is slurred and her hands shake. The disease that is claiming her body bit-by-bit has been so swift that it's expected she'll be wheelchair-bound within six months.

"We were on holidays in January last year and Chloe had been running and riding her bike all over the place. Then one day she wouldn't walk down a hill," says Nyree. "It was like she was scared. It was a bit strange, but I carried her down and thought nothing of it. I now understand it was a pre-symptom of what was to come."

A few weeks later Chloe's older sister Madeleine came home from school with a vomiting bug and, not long after, Chloe too became ill with fever. She was unsteady on her feet - but after a week of recovery she was well enough to return to preschool. On her first day back the teacher rang Nyree in a panic.

"Chloe couldn't get herself out of the sandpit," says Nyree. "She said something was really wrong. Chloe was using everything she could to drag herself out, pots and pans, everything, but she just couldn't get her legs to work. She said they 'hurt and felt like jelly'."

After a series of tests at Wollongong Hospital she was transferred the next morning to Sydney Children's Hospital.

"When we arrived there was a team of doctors waiting for us and I knew instantly it was going to be bad," says Nyree. "They had already examined her test results, which had been sent ahead by Wollongong [Hospital] and the neurologist said to us: 'We want your permission to send Chloe's MRI to the Netherlands'. They explained to us that the white matter of her brain was too bright and that it was abnormal and rare and there was only one specialist in the world who could diagnose her. Fear and panic set in and my husband, Grant, and I went into shock. I mean we thought she just had a vomiting virus."

Six months after the MRI and Chloe's DNA sample were sent to the Netherlands, a final diagnosis confirmed their worst fears: their daughter had Vanishing White Matter Disease. There is no treatment or cure. With each episode that occurs, permanent damage is made to her brain that further stunts her mobility.

The disease is one of 70 leukoenceph-alopathy diseases and causes the deterioration of the central nervous system's white matter, which is made up of nerve fibres and myelin. The myelin, which has a fatty sheath, wraps around the nerve fibres. When the myelin sheath is damaged it turns to liquid and disappears, causing the conduction of impulses along the nerve fibres to slow or fail.

The progressive disease has periods of stability, but episodes are triggered by infection and fever, a small bump to the head, emotion or physical stress and fright. Without treatment Chloe is expected to live 5 to 10 years from onset.

There are only two neurologists in the world searching for a treatment to halt the process, one in the Netherlands and another in Israel, but human trials are not expected for another few years. Until then the only hope for Chloe is to keep her away from the triggers so as to preserve what mobility she has left.

"We just have to wait it out and hope for a treatment before any more damage is done," says Nyree.

"Our aim is to take it one day at a time. It's been tough, though. Within that first month our little girl went from being a normal active toddler to not being able to stand or walk on her own. I've cried every day since.

"She's been robbed of a normal childhood. She'll never be able to run carefree in the sand, skip, dance or backpack around Europe. She'll never grow up to be a doctor, nurse or a mum herself.

"I've cried so much in a year that when I look in the mirror I don't recognise myself."

Each night while the family sleeps, Nyree hits the internet frantically searching for anything she's missed - any potential cure or even contact with another family going through the same thing. But there are only two other cases she knows of in Australia.

To help other parents in the future, Nyree has established her own website chloesaxby.com.au as a point of reference.

"What I found is there's not much information out there," says Nyree.

"It can be really hard being alone.''

Northern Stars Swim School at Russell Vale, where Chloe is learning to swim, is holding a fund-raiser today to help buy a wheelchair and modified van.

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