Claudia Doughty hasn't eaten or had something to drink in seven years. The smiling 10-year-old from Brisbane is fed through a tube in her stomach as a result of an extremely rare condition that went undiagnosed until just two months ago. After a decade in and out of hospital enduring countless needles and operations, Claudia's parents were told their bubbly daughter had Congenital Disorder of Glycosylation type 1e (CDG1e) - a metabolic defect that effects just eight people worldwide. Claudia, who is the only recorded case in Australia, can't talk or eat and she has major global developmental delays. Claudia Doughty, 10, has an extremely rare metabolic condition that took a decade for doctors to diagnose . '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 defied everyone when she took her first steps when she was eight. 'The day our daughter took her first steps, my husband and I cried,' Mrs Doughty said. 'We were sitting on the lounge and she just stood up and did three flat steps. We were crying saying 'did that just happen?'. 'We danced around the kitchen hugging and bawling. It was a good day.' But they haven't all been good days, according to Mrs Doughty. 'There's been plenty of times in hospital where no one knows what's wrong with her and bad things happen,' Mrs Doughty said. Claudia was finally diagnosed with CDG1e two months ago and is the only recorded case in Australia . Her parents, Simone and Neil, first realised something was wrong when she started having serious seizures six months after she was born . Claudia can't talk or eat and she has major global developmental delays. She also only took her first steps two years ago, despite doctors saying she would never crawl . Since Claudia was born in March 2005, her parents have been back and forth to the hospital after she started having seizures at just six months. '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. 'She never ate or drank another thing after that.' The family inched closer to Claudia's diagnosis after Mrs Doughty noticed her pinkie and thumb were the same size when she was cutting her nails. 'I told our metabolic specialist, who has been involved with Claudia for about five years, that she had these obscure long toes and funny little fingers,' she said. While doctors told her parents, Simone and Neil (pictured), that she would live life in a wheelchair and wouldn't ever crawl, Claudia defied everyone when she took her first steps when she was eight . The family inched closer to Claudia's diagnosis after Mrs Doughty noticed her pinkie and thumb were the same size when she was cutting her nails . Her parents say Claudia has a great sense of humour and she loves lights, water and loud music . A blood test that set the family back $3,000 notified them of a defective gene and two months ago the specialist finally confirmed Claudia's condition. 'The whole 10 year period of not knowing was heart-wrenching and traumatic,' Mrs Doughty said. 'For me, when we got the diagnosis I was elated. 'We fought for 10 long years of testing and frustration to receive our diagnoses for our darling daughter, only to realise that finally knowing her condition would be the tip of the iceberg.' Her parents are now trying to raise the funds to attend the second ever World CDG Conference in Lyon, France in August. 'As soon as we heard, we knew that, just as we had fought or so many years for a diagnosis for our daughter, we would fight to take her to that conference,' she said. '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.' To donate to Claudia's cause, visit www.mycause.com.au. The family inched closer to Claudia's diagnosis after Mrs Doughty (pictured) noticed her pinkie and thumb were the same size when she was cutting her nails . Claudia is fed through a mic-key in her tummy after she stopped eating solid foods seven years ago . Claudia, pictured here with her two older sisters and relatives, loves people and cuddles .
Claudia Doughty diagnosed with rare metabolic condition two months ago .
Her parents spent a decade trying to find out her condition .
The 10-year-old from Brisbane has CDG1e and it prevents her from eating, talking and walking properly .
She is the only recorded case in Australia and just eighth in the world .
Her parents are raising money to attend the CDG world conference so they learn about may be in store for their daughter .
Claudia Doughty hasn't eaten or had something to drink in seven years. The smiling 10-year-old from Brisbane is fed through a tube in her stomach as a result of an extremely rare condition that went undiagnosed until just two months ago. After a decade in and out of hospital enduring countless needles and operations, Claudia's parents were told their bubbly daughter had Congenital Disorder of Glycosylation type 1e (CDG1e) - a metabolic defect that effects just eight people worldwide. Claudia, who is the only recorded case in Australia, can't talk or eat and she has major global developmental delays. Claudia Doughty, 10, has an extremely rare metabolic condition that took a decade for doctors to diagnose . '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 defied everyone when she took her first steps when she was eight. 'The day our daughter took her first steps, my husband and I cried,' Mrs Doughty said. 'We were sitting on the lounge and she just stood up and did three flat steps. We were crying saying 'did that just happen?'. 'We danced around the kitchen hugging and bawling. It was a good day.' But they haven't all been good days, according to Mrs Doughty. 'There's been plenty of times in hospital where no one knows what's wrong with her and bad things happen,' Mrs Doughty said. Claudia was finally diagnosed with CDG1e two months ago and is the only recorded case in Australia . Her parents, Simone and Neil, first realised something was wrong when she started having serious seizures six months after she was born . Claudia can't talk or eat and she has major global developmental delays. She also only took her first steps two years ago, despite doctors saying she would never crawl . Since Claudia was born in March 2005, her parents have been back and forth to the hospital after she started having seizures at just six months. '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. 'She never ate or drank another thing after that.' The family inched closer to Claudia's diagnosis after Mrs Doughty noticed her pinkie and thumb were the same size when she was cutting her nails. 'I told our metabolic specialist, who has been involved with Claudia for about five years, that she had these obscure long toes and funny little fingers,' she said. While doctors told her parents, Simone and Neil (pictured), that she would live life in a wheelchair and wouldn't ever crawl, Claudia defied everyone when she took her first steps when she was eight . The family inched closer to Claudia's diagnosis after Mrs Doughty noticed her pinkie and thumb were the same size when she was cutting her nails . Her parents say Claudia has a great sense of humour and she loves lights, water and loud music . A blood test that set the family back $3,000 notified them of a defective gene and two months ago the specialist finally confirmed Claudia's condition. 'The whole 10 year period of not knowing was heart-wrenching and traumatic,' Mrs Doughty said. 'For me, when we got the diagnosis I was elated. 'We fought for 10 long years of testing and frustration to receive our diagnoses for our darling daughter, only to realise that finally knowing her condition would be the tip of the iceberg.' Her parents are now trying to raise the funds to attend the second ever World CDG Conference in Lyon, France in August. 'As soon as we heard, we knew that, just as we had fought or so many years for a diagnosis for our daughter, we would fight to take her to that conference,' she said. '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.' To donate to Claudia's cause, visit www.mycause.com.au. The family inched closer to Claudia's diagnosis after Mrs Doughty (pictured) noticed her pinkie and thumb were the same size when she was cutting her nails . Claudia is fed through a mic-key in her tummy after she stopped eating solid foods seven years ago . Claudia, pictured here with her two older sisters and relatives, loves people and cuddles .
from Brisbane is fed through a tube in her (CDG1e) - a metabolic defect that effects just Claudia Doughty, 10, has an extremely rare metabolic condition that took a decade for no research about it because it truly is so diagnosed with CDG1e two months ago and is the only recorded case in Australia . Her parents, be the tip of the iceberg.' Her parents are now trying to raise the funds to attend the second