Girl Wonder

Maddie likes what most 2-year-old girls like. Riding her tricycle, having her nails painted, being tickled.

She loves eating chocolate, cake and Cheerios, sometimes all at once.

But she can’t tell you that because she can’t speak. It’s hoped that one day she might walk. Right now, for Maddison Rayne Blitvich’s family, it’s enough that she’s alive.

Maddie was not expected to make it past Day 2. She was born with a complicated combination of medical problems – a failing heart, hydrocephalus (excessive fluid in the brain) and type 2 Pfieffer Syndrome, a rare genetic condition that affects one in 100,000 births and is characterised by a clover-shaped skull.

Her distorted facial features – a prominent forehead and bulging, wide-set eyes – are the result of craniosynostosis, the premature fusion of skull bones which means Maddie’s head has not been able to grow normally.

In the supermarket, adults stare; at the cardiologist’s small children ask their parents about the monster in the room.

She wasn’t meant to live. But she did.

At 6 months, surgeons placed a shunt in her brain to drain excess fluid to relieve pressure and vomiting.

At 18 months, as she continued to defy odds, doctors proposed lifesaving heart surgery.

Her misshapen head means she will have to undergo further traumatic head surgery so her brain can continue to grow.

But Maddie is a daughter, a sister and an aunt. And she’s a fighter. Drill down into the name’s meaning and you find out it derives from the Germanic name Mahthildis meaning "strength in battle".

Every mother thinks their child is beautiful. Not all are told to plan for their beautiful little girl’s death.

Dr Kirsten Finucane, head of paediatric cardiac and congenital surgery at Starship children’s hospital, was part of the team that feared a newborn Maddie would not survive heart surgery.

“I remember standing with the neurosurgeon, the cardiologist and the neonatologist,” says Finucane. “We all felt it was better not to operate, we weren’t sure she would survive the cardiac lesion. Normally we would offer an operation in the first week or two but we felt she just had too much wrong with her, particularly the brain issues, to make surgery not a good option so we said no.”

But then Maddie made it to two weeks, then three months, then a year. She survived the surgery to place a shunt in her head. Her medical team was ready to operate on her heart. Rachael was apprehensive now. There was a still a chance her daughter would not survive the eight-hour procedure.

Finucane explains: “There are valves in the heart that act like doorways. Her mitral valve, which is the door in the left ventricle, needed to be bigger.”

She knew she had to repair Maddie’s mitral valve and aorta. She knew her patient had tolerated the earlier shunt operation well. She knew that Maddie was growing and, although her head was misshapen, “the brain underneath was developing beautifully”.

“People often suspect we are behind the eight ball in New Zealand in terms of our medical approaches but we are up with the play when dealing with children with a combination of problems,” says Finucane. “With children [like Maddie] initially you thought you couldn’t do anything and then you start to think, maybe we can, and when you get through something – it’s very satisfying.”

Rachael had made the difficult decision. The heart surgery was done in May last year.

“She needed a chance like every other kid. I will never forget seeing her on the operating table. I thought this could be the last time – her fight was over. But she’s a fighter and pulled through. I crumbled.”

Maddie has big brown eyes, eyelashes that curl and a signature water-fountain ponytail. She shuffles about on her bum and is learning to communicate by sign language.

Arlo is her youngest nephew. He has blue eyes and blonde hair and legs like ham bones. He is walking and talking.

The pair communicate by throwing toys at each other. They steal each other’s food and chase each other around the house on plastic bikes. You know Maddie’s happy when she raises both arms in the air and her face and entire body shake with excitement.

Arlo’s development throws Maddie’s delays into sharp relief.

Rachael is proud of her grandson, but “it tugs at my heart”.

“As a nana it’s heartening to see Arlo walking and achieving milestones. As Maddie’s mum it crunches my heart a little bit she’s not. I realise how delayed Maddison is when I see younger kids at daycare doing things and she’s not.”

Dr Kay Lyn Wong, a pediatrician at Waitemata Health, has been seeing Maddie every month since she was born. They bonded when the little girl, who was not expected to survive, was in palliative care.

“I know I shouldn’t say this, but Maddie is my favourite baby,” says Wong.

“We didn’t expect her to live to two years, so she has really outdone what the prognosis was for her. She has good receptive language and understands instructions. But her expressive language and growth milestones are definitely affected. I am so proud of how well she is doing.”

Two years in, Rachael counts each day as a blessing. She understands Maddie’s severe type 2 Pfeiffer Syndrome means more medical procedures. But the next hurdle is a particularly daunting one for Maddie and her neurosurgeon Dr Peter Heppner.

“The problem is her brain just keeps wanting to grow but her head isn’t growing or expanding to accommodate it,” says Heppner.

It was he who fitted the shunt in Maddie’s brain.

“Our next step is to do an operation to expand the skull. This will put a lot of stress on her body. We have to have her face down for the operation which is long. The chances are there will be a lot of blood loss so it’s a bigger undertaking.

“The biggest question is how strong is her heart? Can she get through this?

“At first we thought her heart’s not up to it and there was nothing we could do. But the fact she was operated on successfully has made it harder for us. It’s sometimes easier when someone tells you ‘you can’t do it’, because now we have to consider doing it.

Rachael has been “pushing and pushing” for Maddie to have the new surgery.

“We have to give her the opportunity, like everyone else. She’s had a shunt in her head. I’ve seen her first birthday come and go, it was always a no to heart surgery because it was complex, yet she made it. All the way through I have left the fate to Maddie.”

It’s a catch-22. Surgery could kill her. The alternative is bleak.

“Maddison’s brain will continue growing so she will get raised pressure inside her head which will cause damage to parts of the brain,” says Heppner. “That will lead to secondary damage. Touch wood we have never had one die on the table – that’s always a concern when you are doing something like this. We hope she’s not going to be the first.”

Heppner is quietly confident. Maddie has defied nature more than once.

“She’s done a lot better than we ever thought. She’s not neurologically within the normal range of development compared to other kids in any way, shape or form. But she is a bubbly, sparkly, happy person who can convey that to you.”

Damned if you do, damned if you don’t. Maddie’s grandmother Colleen fears an operation could be detrimental to Maddie.

“My granddaughter is a blessing – hopefully we can have her a lot longer yet. It’s risky and I’m not sure if it will be advantageous. It will be an awful, horrendous pressure to put her and her mum through. We are so used to seeing her like that. I would hate anything to happen and we lost her.”