X syndrome: 'It took 17 months to get his diagnosis'

REEM Waines said she and her husband had never heard of FXS before Kenz was diagnosed three years ago. "When he was quite young - four or five months old - he always had this protruding tongue," she said.

"He wasn't very attentive to toys and he was quite a difficult baby, he had colic, reflux and so on."

The couple started researching the condition as they tried to cope with Kenz's worsening symptoms. "He was starting to have more difficult behaviour. He'd whine a lot, he'd be uncomfortable in many situations. We thought he was being naughty. He'd have meltdown before eating dinner because he thought it was too late and we'd have to calm him down. He had an attention span of zero.

"We took him to doctor after doctor, who would tell us to come back in a few months, but every time they couldn't give us anything new. It took 17 months to get his diagnosis.

"We had no idea what it was or what it meant."