Luca was four months old when she smiled up at her parents for the first time, something they were unsure she would ever be able to do. Photo: Supplied / Stuff / Juan Zarama Perini
- An Upper Hutt baby has been diagnosed with Bohring-Opitz syndrome, a condition so rare she is the only known case in Aotearoa.
- Affecting the development of many parts of the body and causing severe intellectual disability, the likelihood of those with the syndrome surviving into adulthood is low.
- Luca, now 6 months old, is due to have three high risk surgeries in coming months to try to tackle her feeding issues and reflux, and reconstruct her skull.
An Upper Hutt baby has been diagnosed with a condition so rare she is the only known case in Aotearoa.
Luca, now six-months-old, spent the first two months of her life in hospital unable to move much by herself.
Born in March, it was not until July that Luca's medical team confirmed her diagnosis - Bohring-Opitz syndrome - a highly uncommon genetic condition affecting development and causing severe intellectual disability.
Her mother, Teresa Warner said the start of Luca's life mostly consisted of people telling them what she would not be able to do.
But in July, as she looked up at her parents, she smiled for the first time.
"She would normally just watch rather than react. But this time her eyebrows raised, her eyes lit up and she just grinned.
"She's learning in her own way and no one knows what to expect from her but it's so beautiful when we get a huge win like that."
Luca is short-sighted and deaf in one ear so Warner said she liked people to be close to her.
"She loves being the centre of attention. She'll always smile at the nurses when they talk to her," she said.
She also liked bright colours, toys and any sort of music.
Warner said Luca liked people to be close and always smiled at nurses when they talked to her. Photo: Supplied / Stuff / Juan Zarama Perini
And although she cannot roll over herself or hold her head up, she is making progress.
"She just loves to look around the room. She smiles at everything now."
Recently, with the help of a specialist, Luca had been learning to looking at herself in the mirror and practice touching her face with her hands.
"I almost cried with pride the first time she did it," said Warner.
Although Luca struggled to move by herself, she is making progress and can now look in the mirror and touch her face by herself. Photo: Supplied / Stuff
The likelihood of those with the syndrome surviving past childhood is low, however some have survived into early adulthood.
This is something Luca's parents and her 3-year-old brother Weston are having to "come to terms with".
Although she was able to latch at first, Luca is now unable to breast or bottle-feed and has to be fed through a tube.
"The first moment that she did have the little latch was just amazing, because I didn't think that she would ever do that. But it just wasn't for her," said Warner.
"It has definitely been harder to not have that connection with her and even with dad as well, not being able to feed her with a bottle."
Teresa Warner and Jacob Williams want to raise awareness of the rare syndrome. Photo: Supplied / Stuff / Juan Zarama Perini
Babies with the condition often struggle to hold down milk and have extremely sensitive stomachs.
Luca has three surgeries in coming months to try to tackle her feeding issues and reflux, as well as a major skull reconstruction.
A friend set up a GiveaLittle page to support the family, as they will need to travel to various hospitals for Luca's surgeries and Warner will not know when or if she can return to work.
"We've seen a huge amount of support from everyone, which is awesome to see, especially just creating awareness for this type of unique syndrome as well," said Williams.
Luca has spent most of her life in Hutt Hospital. Photo: Supplied / Stuff / Juan Zarama Perini
Being the only known case in New Zealand, and one of less than 200 worldwide, he said it had been difficult for doctors to understand her needs and the care she required.
"We're still figuring things out about it ourselves, as well as the doctors," he said.
Warner said she had been basically living in Hutt Hospital, where Luca stays full time.
Although she was due to return to part time work, it was difficult to find support for Luca at home due to her unique needs.
"We're the only people who know how to feed her, how to give her medications at home, other than at hospital."
"We don't know when she'll come home, with her surgeries coming up, it's still up in the air," she said.
Luca has to be fed through a tube as she is unable to breast or bottle-feed. Photo: Supplied / Stuff / Juan Zarama Perini
33 weeks in to Warner's pregnancy she had a growth scan, which showed her baby was measuring about six weeks behind and had an unusual skull shape.
They were told that things were fine, but were offered a genetic test.
"At that point, we thought it was quite late, so we thought we'd just wait till she was here."
Once Luca was born, it was clear she had a lot of differences and she underwent genetic testing.
Listed on the testing paperwork was a syndrome the doctors thought might have been a possibility, Bohring-Opitz.
About three months later, her diagnosis was confirmed.
"It was really scary. We didn't expect it. I mean, when you Google it, it's all very confronting."
Warner said once the family had gotten past the initial shock, it became easier.
"She's literally so beautiful and perfect. Look at her and how do you not smile?"