• The newborn Treacher Collins syndrome, a rare genetic disorder characterised by absent cheekbones and under-developed facial structures. (Facebook)Source: Facebook
In some cases the condition is unnoticeable, in other cases it results in severe facial abnormalities.
By
Ben Winsor

6 Jun 2016 - 3:27 PM  UPDATED 6 Jun 2016 - 4:42 PM

When Abigail Lynn Fisher was born on January 11, her adoptive mother reportedly fled the hospital in tears after seeing the newborn girl.

Christina Fisher, Abigail’s 36-year-old biological mother, took it as a sign she was destined to keep her.

The north-western Florida woman says she was “basically homeless” after the trailer park she was living in closed down. She had arranged to have the newborn adopted.

She told the North West Florida Daily News she doesn’t see her daughter’s deformities. Instead, she sees “a little angel.”

“I can’t imagine my life without her,” she said.

When local photographer Oksana Peery heard of Christina’s story, she donated her services. 

Abigail suffers from Treacher Collins syndrome, a rare genetic disorder characterised by absent cheekbones and under-developed facial structures. She may have to undergo a series of corrective and reconstructive surgeries through her childhood and teenage years.

Doctor Peter Farlie, leader of the Craniofacial Development Group a the Murdoch Childrens Research Institute, told SBS that while genetic testing can pick up the condition, it's too expensive to conduct routine testing.  

“It’s about one in 50,000 babies,” he said, “we know there are three genes that cause that syndrome, so the test would be to look at the DNA for those three genes quite specifically.”

Those born with the disease can suffer vision and hearing issues, but their intelligence and cognitive function is normally unaffected. 

"That’s the cruel part about it, it can be quite severe in terms of appearance of the child," he said. "It causes a lot of issues, especially in teenage years."

Doctor Farlie told us the condition can be quite variable, even within the same family. "We don’t know why it’s so variable, but it’s quite an established fact that you can have a parent that appears quite normal and no one’s ever queried anything," he said.

In some cases the condition is unnoticeable, but in more severe forms it can affect an infant’s airways, making it potentially life-threatening. Medical authorities note that with early intervention and successful surgeries, sufferers can go on to lead quite normal lives. 

SBS understands the cost of treatment in Australia is normally covered under Medicare, but patients can find themselves in a grey area if a particular procedure was primarily or exclusively for cosmetic reasons. 

The North West Florida Daily News reports that the condition wasn’t picked up prior to birth, with scans only revealing the unborn child had small ears.

An affected parent has a 50 per cent chance of passing on the condition. The severity of the facial abnormalities cannot be predicted.