Claudia Doughty hasn’t eaten or had something to drink in seven years. The beautiful 10-year-old from Brisbane has an extremely rare metabolic condition called Congenital Disorder of Glycosylation type 1e. Something that only 8 people in the world have. 

She has been fed through a tube in her stomach as a result and cannot talk or eat. 

‘It’s scary because there’s no research about it because it truly is so rare,’ her mother Simone told Daily Mail Australia.

‘There’s absolutely no talk of what the future will hold. We’ve got to work with it.’ 

While doctors told her parents, Simone and Neil, that she would live life in a wheelchair and wouldn’t ever crawl, Claudia beat the odds when she took her first steps at age eight. 

‘The day our daughter took her first steps, my husband and I cried,’ Mrs Doughty said.

Despite this they have been through some very difficult times together as a family.

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‘There’s been plenty of times in hospital where no one knows what’s wrong with her and bad things happen,’ Mrs Doughty said. 

‘She had hideous seizures, like 100 different types a day. They were awful – all day, every day. It was scary, we had lots of crying time as a family,’ she said. 

‘We ended up doing the ketogenic diet when she was three to try and control her seizures. But with Claudia, it was very unsuccessful and she stopped eating altogether. 

It was a $3,000 blood test that finally determined that she had a defective gene, that confirmed her condition. The relief of finally knowing what was wrong with their daughter was quickly diminished when they heard there was no cure. 

They are now trying to raise funds so that they can attend the second ever World CDG conference in Lyon, France in August. 

‘It will be a truly priceless gift to be able to meet with specialists, doctors, parents and their kids to spread awareness and gain insight into such a rare disorder.’

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You can donate to Claudia’s Cause here.

Source: Mail Online

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