First-time mum Vanessa Birtwell was looking forward to Christmas last year, when she was told news that left her and husband Ewan in ‘absolute shock’.
A growth scan at 32 weeks, on 22 December, revealed that their unborn baby had craniofacial abnormalities. Doctors diagnosed a rare condition – Treacher Collins Syndrome. It’s an inherited condition that usually affects the cheekbones, jaw, chin and ears of 1 in 50,000 babies.
“We got the news on 22 December just days before Christmas and were in absolutely shock,” the Queensland mum said.
The couple had intending on keeping the gender of their baby a surprise, but changed their minds after learning of their baby’s condition.
“We didn’t want her to be an it anymore,” Vanessa said.
“The diagnosis was confronting as we had done a lot of research about Treacher Collins Syndrome before she arrived.”
The symptoms of the syndrome included downward-slanting eyes, a very small jaw and chin, and hearing and vision loss, and some babies are born with a cleft palate.
“We knew she would look different but she is absolutely the best baby.
“She was born with no cheekbones and has a few defining characteristics.
“We knew she would look different but she is absolutely the best baby. Claire will have a normal life expectancy, she will have a few set backs but she will go on to have a happy life – I am so in love with her.
“She will need a few craniofacial surgeries, mainly while she is a child.”
Born at a healthy weight, Claire spent three weeks at Mater’s Neonatal Critical Care Unit due to Choanal atresia, a condition that causes excess tissue to block one or both sides of a baby’s nasal airway, making it harder for them to breathe.
“Claire’s condition is very rare. She is the only baby with Treacher Collins Syndrome I have treated in Queensland,” explained Mater Director of Neonatology Dr Pita Birch
“Claire’s facial abnormalities resulted in a really small airway and major difficulty breathing.”
The newborn was fitted with a breathing tube, and received treatment for six weeks.
And now she’s thriving, with Vanessa and Ewan saying Claire is their ‘greatest gift’.
(Images: Josh Woning)
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Ellen replied
- 31 Jul 2024 , 7:47 am
Reply12:22 pm
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