Almost two months premature and delivered by emergency cesarean, Charlotte was whisked away immediately so oxygen could be delivered to her lungs, and wires could monitor the beating of her tiny heart.

She was too small. A premmie nappy hung loose around her hips.

Charlotte, a Valentine's Day baby, was taken away so urgently, mum Amanda Hulm and dad Mick Noonan hadn't even seen her.

"I would have seen her after about an hour," Amanda said.

"But I was in recovery, I'd had a spinal block, so I couldn't move and sit up. I could just see her arm and leg in the crib."

As Mick looked down at his tiny baby girl, he was terrified she wouldn't survive.

"I've never seen a baby that small, like, we get ham from the deli that's heavier than her," he said.

"It's frightening."

Only hours old, Charlotte was flown from Wodonga to Geelong. Her parents still hadn't been able to hold her. They had no idea why she was so small. No one did.

Just two days before, Mick and Amanda were attending their scheduled 33-week ultrasound.

They had no idea anything was abnormal. No idea they were about to meet their daughter, seven weeks early. No idea they wouldn't be back to their home for well over a month.

Things had been rough in the first trimester, there was a lot of bleeding, they thought they had lost their baby.

But at their eight-week ultrasound, their baby had a strong heartbeat, she was growing and the doctor said everything was going well.

The relief set in and the pregnancy continued on track. Early tests for Down syndrome came back at one in 250,000, so low that more tests weren't recommended.

Mick, who jokes that he struggles to be patient, found out the baby's gender as early as possible, Amanda waited until the baby shower. The baby continued to grow and move.

They prepared a nursery, plastering animal print on the wall of their new home in Leneva, and most importantly, prepared their children, a boy and a girl from previous relationships, for the family's new arrival.

But during an ultrasound on February 12, they discovered their baby girl had stopped growing.

On February 16, two days after giving birth and 380 kilometres away from Wodonga, Amanda was finally able to hold her daughter Charlotte. She's been in love ever since.

"She's the most amazing girl, she's got the biggest eyes," Amanda said.

"She doesn't cry much but when she does sook a little bit, you can just pick her up and she stops straight away and cuddles into you. She's completed our family."

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Eventually, after dropping down to about 1000 grams, Charlotte started putting weight on thanks to a nasal gastric tube.

Almost a month after leaving Wodonga, the family returned to hospital on the Border.

"We finally got home, thinking we were on the home stretch and two days later got the genetics tests and found out it's Wolf-Hirschhorn syndrome," Mick said.

The parents had never heard of the chromosomal abnormality which affects one in 50,000.

Their doctors had studied the disease, but most had never encountered it outside a textbook. The parents had a name, but still didn't really have any answers.

Wolf-Hirschhorn syndrome affects everyone differently.

"It's a deletion [of genetic material] in the fourth chromosome, 4p," Amanda said.

"With Charlotte all they could tell us is what has been deleted is crucial - they can't tell what though, they have no idea what it means for her.

"She doesn't seem to have the strong physical part of Wolf-Hirschhorn syndrome, a lot of kids who have it have a cleft lip or palate, deformed ears, deformed feet... but what we don't know is what behind the scenes has been deleted."

They know Charlotte will be physically and intellectually behind.

They know she will need ongoing contact with physiotherapists, occupational therapists, speech therapists, neurologists, dietitians, ophthalmologists and dentists, both on the border and in Melbourne, to manage the various impacts of the syndrome.

At five months old, Charlotte is about the size of a newborn, 3920 grams.

She has gorgeous, large eyes and chubby cheeks. She's already had her first seizure, and can't roll over or grab yet. She's immune deficient and her eyes can't quite fix or focus.

Mick struggles with the uncertainty.

"We've been told she might not be able to walk at all or might need assistance," he said.

"She'll be nonverbal, but whether that's mumbling or a couple of words or nothing - no one can say.

"It's hard because it's not a week or a month wait. We're talking four or five years before we begin to know...I find it terrible because I'm not really a patient person.

"It's hard because you can't put a plan in place."

Mick and Amanda dote on their youngest child.

They wouldn't change anything about Charlotte, but they wish they pushed for tests and demanded more answers about the pregnancy bleeds, so they could have prepared financially and emotionally.

"We couldn't imagine life without her, she's completed our family and we absolutely love her to bits, we just need some help," said Amanda.

"You try to prepare as much as you can knowing a newborn is coming but we went to Geelong [where Charlotte was in hospital] for 3.5 weeks and that ate all our savings."

Even now they're home, they struggle to find the support, financial and otherwise, they assumed would be readily available and easily accessible to families in their situation.

They still need to travel for appointments and Amanda said they're still waiting for an NDIS plan.

"They're all about early intervention, she's five months old now, we've known for four months - where is the early intervention?" she said.

The rarity of the condition makes finding people who understand what they're going through nearly impossible.

"There are people in the United States and Queensland, but their systems are different," Mick said.

"And it's one thing to text with someone and another thing to chat face to face."

Amanda and Mick hope sharing their story will help raise awareness of the syndrome and the difficulties facing families caught navigating illness and bureaucracy.

People can donate to support Charlotte by searching Charlotte's Life Journey on gofundme.

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