Ocie Ni Dheasmhunaigh has a rare form of dwarfism and underwent surgery at just 18 months of age. (Supplied)
Australian surgeon David Bade consulted an international brains trust before operating on Ocie Ni Dheasmhunaigh, who has a form of dwarfism so extremely rare, she's one of only three known cases in Australia.
Eighteen-month-old Ocie weighed just 3.5 kilograms — the size of a newborn — when Brisbane-based Dr Bade first operated on her recently for hip dysplasia.
The orthopaedic surgeon performs dozens of surgeries every year for hip dysplasia — the medical term for a hip socket that fails to cover the ball portion of the upper thighbone.
Dr David Bade had to consult internationally before the operation. (Supplied: Mater)
But Ocie's rare genetic condition produced unique challenges.
Because of her size, Dr Bade was worried about the potential for blood loss and of inadvertent injury to her blood vessels and nerves during the surgery.
Ocie was born at the Mater Mothers' Hospital, weighing just 1300g. (Supplied)
"Ocie's condition is … the rarest of the rare. When you get a condition like this, there is no set plan to follow," he said.
"Hip dysplasia is not a condition we operate on in newborns. Ocie is the size of a newborn, but she is at an age of surgical intervention to correct dislocated hips.
"The later you leave any reconstructive options, the harder it is to get a hip that forms normally."
Both of Ocie's hips were affected.
Left untreated, they would have resulted in pain later in life.
International expertise
Before operating on her at the Mater Children's Private Hospital in South Brisbane, Dr Bade conferred with members of the Hip Hope Network, a global group of doctors, engineers, and other experts committed to improving the quality of care for children with hip conditions.
Ocie underwent successful surgery on her hip sockets after being diagnosed in her infancy. (Supplied: Annette Dew)
"Often in surgery, we're faced with things we haven't seen or done before. But we've got … a process by which we can troubleshoot. The aim of everything we do is in the best interests of, and hoping for the best outcomes for, the patients," Dr Bade said.
"That includes Ocie.
"We had to do one hip at a time. We didn't know how the first procedure was going to go because of all the extra complexity. But it all ended up going very well."
Ocie was diagnosed with a condition dubbed IMAGe syndrome soon after her first birthday.
IMAGe is an acronym for characteristics of the disorder — intrauterine growth restriction; metaphyseal dysplasia, a disorder of the bones; adrenal gland underdevelopment; and genital anomalies in boys.
Gemma Bergin soon after her baby was born via planned caesarean. Roughly a year later, Ocie was diagnosed with IMAGe syndrome. (Supplied)
Genetic testing after Ocie's birth
Paediatric geneticist David Coman said the condition could be caused by different genes.
He said Ocie's type of IMAGe syndrome was so rare, just 15 cases had been reported in medical literature worldwide.
"Often you've got to go through a range of specific tests to try to find an answer," Professor Coman said.
First-time parents — Gemma Bergin and Fiachra O Deasmhunaigh — were told at the 20-week scan during the pregnancy that Ocie was "measuring quite small".
They were referred to the Mater Centre for Maternal Fetal Medicine.
Ocie was born in a planned caesarean section at 37 weeks' gestation on May 22 last year, weighing just 1.3kg.
Early genetic testing was negative.
Ocie's parents were told she was measuring quite small, even before her birth, but early genetic testing on the baby returned a negative result. (Supplied)
She was almost two-months-old by the time she was released from hospital and Ocie's parents were able to take her home to the Sunshine Coast.
"I think when babies come out, they're expected to gain between 150 to 200g a week," Ms Bergin said.
"She was doing like 10, 50, 120g. She was a little bit all over the place."
Ocie also had close to a dozen marks on her back and legs, known medically as café au lait marks, because they look like coffee stains on her skin.
"It's normal for people to have a mark, a birthmark … but when it's over six, on a newborn, it can be a sign of a genetic condition," Ms Bergin said.
As a definitive diagnosis continued to elude doctors, and her mother searched the internet for answers, Ocie stopped gaining weight around the time of her first birthday in May.
A month later, a type of genetic testing — known as whole exome sequencing, comparing her DNA with her mum and dad's — revealed she had IMAGe syndrome.
Ocie is the firstborn child of Gemma Bergin and Fiachra O Deasmhunaigh. (Supplied: Annette Dew)
It showed Ocie had inherited mutations in the POLe gene from both parents, which resulted in the genetic condition.
Further testing showed her adrenal glands were failing to produce cortisol and she was prescribed replacement medication.
Ms Bergin said the diagnosis of IMAGe syndrome had been "more relief than terrifying".
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"It was like: 'Thank God, we know something," she said.
"Before that, it was almost like we were guessing.
"Even though you still don't know exactly what you're dealing with, you have something to sink your teeth into, whereas when you don't have anything, and you have a child who's a year old and they're in newborn clothes, it's just terrifying."
Ocie writing 'her own story'
Ms Bergin said the medication had given Ocie an energy that was lacking before.
"She's still the same little happy girl reading her books, but she has a bit more life in her now," the makeup artist said.
"All of a sudden it was like: 'Let me on the floor. Let me down, let's go.'"
Both of the infant's hips were impacted and needed surgery. (Supplied: Annette Dew)
Ms Bergin, who is learning to sew so she can make comfortable clothes for Ocie, has found support and advice from the parents of other children with IMAGe syndrome on a private social media page, which has 43 members.
"That's been life-changing," she said.
Because IMAGe syndrome is so rare, doctors are unsure what the future holds.
"You can't tell people with a really rare disease, when there's so few cases around the world, what's going to happen. Each … individual is different," Professor Coman said.
"Ocie's going to write her own story. She's a delightful little girl."
Professor David Coman said it's hard to know what the future will hold for Ocie because every case is different when it comes to such a rare condition. (Supplied)
Ocie will have regular appointments with specialists to check her progress but she's already "saying words" and "non-stop babbling".
While having to deal with the unknown of her daughter's condition, Ms Bergin said she doesn't "live there".
"I feel less ahead of myself," she said.Â
"I think in the beginning you look at their whole life. Now I live more in the: 'everything is really good now'.
"I hope that all we have to worry about is the obstacles that her height brings and not other issues."
'Most beautiful thing you've ever seen'
One constant for her parents is the love they have for their first-born.
"When you're pregnant and then you give birth and you have this baby and there's all these unknowns, it's just very scary," Ms Bergin said.
"And now you're like: 'Well, I don't care about any of that. We'll do what we have to do'.
"It doesn't seem as scary."
Ocie's mum and dad describe her as their "people magnet".
Ocie has been described by her parents as a people magnet. (Supplied: Annette Dew)
People stop them in the supermarket asking about their tiny daughter.
"I'm like: 'This is Ocie. She has a rare form of dwarfism. As you can see, she's the most beautiful thing you've ever seen'," Ms Bergin said.