'I'd never heard Abigail call me mum': The rare genetic disorder that almost exclusively affects girls

Abigail's syndrome caught her family by surprise."Everything was fine. She was ticking all of the boxes. She was a little bit of a late walker, but other than that, we had no concerns. The doctors had no concerns.

He explained that many symptoms associated with Rett syndrome overlapped with other conditions — and that often led to misdiagnosis. "Even among doctors, not many of them have heard of Rett syndrome. So we're trying to raise awareness so children can be diagnosed and treated properly." Clinical geneticist at the Sydney Children's Hospital Carolyn Ellaway said the gene for Rett syndrome had been located on one of the X chromosomes.

Although Abigail faces daily challenges, there have been plenty of happy moments since her diagnosis. "And behind that note was a bank cheque for $13,000. That money was specifically for Abigail to buy an eye gaze communication device."

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