The West

When Amy Arnett woke up after an emergency caesarean three weeks ago and was warned by her husband Ryan their new daughter had unusual deformities in her hands, she was yet to know the tiny baby's health problems would be far more worrying.

But by the next day, doctors had to tell the young Heathridge couple that Shayloh, who was born six weeks early, had a rare congenital syndrome thought to affect only about one in 100,000 babies but almost always causing significant physical and intellectual disabilities.

Apart from abnormally-formed fingers, Shayloh had several of the tell-tale facial features linked to Cornelia de Lange syndrome - downturned lips, a short upturned nose and thin eyebrows joined in the middle.

With two healthy children at home - four-year-old Jacob and 18-month-old Indianna - the Arnetts were given a long list of other abnormalities such as kidney, sight and hearing problems they could expect from the syndrome, which is often more severe than Down syndrome but cannot be detected during routine pregnancy checks.

Mrs Arnett, 24, said she was still trying to come to terms with the uncertain future for her daughter who will remain in Princess Margaret Hospital for up to eight weeks and will then need around-the-clock care indefinitely, including having to be tube-fed for at least 12 months.

While in the past children with the syndrome often did not survive beyond infancy because of medical complications, many can now live into adulthood but require ongoing medical treatment and therapy.

A common complication can be chest infections which, if not treated, can be fatal.

"We are just taking one day at a time and hoping to contact other families with a child with the syndrome so we have a better idea of what to expect," she said.

"We've been advised that one of the options if the condition is severe is palliative care, where we care for Shayloh as best we can but if she develops an infection we let her pass away."

Mrs Arnett said their changing circumstances were taking a financial toll, with the couple already struggling to meet payments on their house and car, let alone plan for the cost of therapy Shayloh might need.

Her plans to return to work within a few years now seemed unlikely, and her 25-year-old husband was quitting his job in the mining industry to look for a job in Perth so that he did not have to work away from home and could help to care for their children.

The West Australian

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