Baby Claire Born With Rare Condition Is Mum’s ‘Greatest Gift’

The mother of a baby girl born with no cheekbones due to a rare genetic condition says her daughter is the ‘greatest gift’ she could ever receive.

First-time mother Vanessa Birtwell, 28, knew that tiny Claire would look “a little bit different” when she was born at Mater Mothers’ Hospital in South Brisbane on 12 February.

A growth scan 32 weeks into her pregnancy had identified that her unborn baby had craniofacial abnormalities, which doctors diagnosed as Treacher Collins Syndrome.

Treacher Collins Syndrome is an inherited condition that most often affects the cheekbones, jaw, chin and ears of one in 50,000 babies.

Symptoms include downward-slanting eyes, a very small jaw and chin, and hearing and vision loss. Some babies are born with a hole in the roof of their mouth (cleft palate).

“Claire had malformed ears and a very small jaw – we got the news on 22 December just days before Christmas and were in absolutely shock,” Mrs Birtwell said.

“She was born with no cheekbones and has a few defining characteristics.”

Mrs Birtwell said she became “besotted” with baby Claire the moment she held her.

“We knew she would look different but she is absolutely the best baby,” she said.

“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.”

Claire was born weighing a healthy 3kg and was transferred to Mater’s Neonatal Critical Care Unit for three weeks due to Choanal atresia, a condition in which excess tissue blocks one or both sides of a baby’s nasal airway, making it harder for them to breathe.

Mater Director of Neonatology Dr Pita Birch said Claire received around-the-clock “life-saving care” from the multidisciplinary team in the Neonatal Critical Care Unit.

“Claire’s condition is very rare. She is the only baby with Treacher Collins Syndrome I have treated in Queensland,” Dr Birch said.

“Claire’s facial abnormalities resulted in a really small airway and major difficulty breathing.”

Dr Birch said Claire’s care involved maintaining her airway with the tube.

“She needed to have a breathing tube placed in her nose and passed via the cleft in her palate to sit in her pharynx (just in front of her voice box) so that she could breathe,” he said.

“If this ever became blocked it would need to be replaced, and I supervised and supported this happening at times.”

He said CPAP (pressure support) via the tube was provided before she was transferred to the Paediatric Intensive Care Unit at Queensland Children’s Hospital for six weeks for further treatment.

Mrs Birtwell and her husband Ewan, 31, said they had planned to keep their baby’s gender a surprise however decided to find out when they learned of her condition.

“We didn’t want her to be an it anymore,” said Mrs Birtwell, from Brackenridge.

“The diagnosis was confronting as we had done a lot of research about Treacher Collins Syndrome before she arrived.”

The couple said the care their family received at Mater Mothers’ Hospital was amazing.

“We had so much anxiety leaving Claire in the hospital every night she was there but we knew she would be absolutely fine with the team looking after her,” Mrs Birtwell said.