Simply loving Spencer

Dana's boy was born different, but she's very proud of the little man he has become.

Dana Blackhall, 32, Nyngan, NSW

The room was eerily quiet as doctors rushed around me.

No-one was saying anything, but I knew something must be terribly wrong.

When I’d given birth to my first three kids, Dayne, now 12, Madison, 11, and Joshua, eight, it had been such a happy occasion. Oohs and aahs had echoed throughout the room as I was handed each one of them for a cuddle.

Not so this time.

All I could hear was the steady whir of machinery.

There was no almighty cry. Looking up at my husband, Rod, 36, the concerned expression on his face matched the way I was feeling.

Neither of us could speak. We just stared at each other in terror.

Was our precious baby all right?

As I caught a glimpse of our bub, I noticed his face was swollen and his eyes protruded from his head.

He’s different, I thought. But he’s absolutely beautiful.

We decided to name him Spencer, but before we could even hold our little man, he was rushed away for tests.

‘Go with him,’ I whispered to Rod, wanting one of us to be by his side.

Deep down, I felt as if my heart was tearing in two.

Something was wrong with my beautiful boy, I just knew it. But it didn’t make sense.

I’d had a perfect pregnancy, and during the scans Spencer always looked totally healthy.

Now, no-one could tell us what was wrong. Panic overwhelmed me as I was wheeled into recovery and saw my doctor waiting there.

‘Spencer has certain features…’ he said.

‘They could just be his own little features, but he’s also having trouble breathing so we’ll need to do tests to find out more.’

Soon after, I was wheeled into the nursery to see our boy. Rod was there, and in the 12 years we’d been together, I had never seen him look so scared.

Newborn Spencer (Credit: Supplied)

Spencer was in a humidicrib covered in wires and tubes.

His big blue eyes peered up at me – but they pointed in different directions. He also had low-set ears and a beaked nose.

His breaths came in painful little rasps and his toes pointed inwards as he wailed.

I wanted to scoop him up, breathe in his new baby smell and stroke his soft head.

Instead, all I could do was stare down at him with a mixture of fear and heartbreak.

‘There’s a possibility Spencer has brain damage,’ one doctor said to me – and when I heard those words I felt like my whole world was crumbling down.

Would my boy ever ride a bike or even feed himself?

‘I don’t know what’s wrong, but Mummy will always love you,’ I whispered.

A few hours later, we were flown to Westmead Children’s Hospital, where Spencer had further tests. But the doctors there were stumped too.

Wanting to be close to my new son, the next morning I tried to breastfeed him.

I didn’t hold out much hope for success, but incredibly he started feeding. It was a big step…

And over the next few days Spencer surprised everyone with his progress.

He was sleeping, feeding and breathing all on his own. Finally, after nine days he was well enough to take home.

The kids didn’t see anything wrong with Spencer – they just saw their gorgeous little sibling.

‘I can’t believe he’s here,’ Joshua said in awe.

But sadly our baby’s setbacks continued. At just six weeks old a test revealed he would need hearing aids for life.

It was devastating, but it wasn’t until Spencer was five months old that we finally had an answer for what was wrong.

‘Spencer has Pfeiffer type-1 syndrome,’ a doctor explained.

It’s a rare condition affecting one in 100,000 children, caused by a chromosome mutation. It means Spencer’s skull bones fused early – which prevented his head from growing normally.

That’s why Spencer has no eye sockets, narrow nasal cavities and hearing loss.

I was relieved to finally have a name for what was wrong, but we still had so many questions.

Would our boy lead a normal life?

Did he have brain damage like they had initially predicted?

Rod, Dana with Spencer, Dayne, Joshua and Madison (Credit: Supplied)

Thankfully, we discovered that Spencer’s brain was functioning normally – which was a massive relief.

But turning to the internet to learn more, I was shocked by how little information there was.

That’s why I decided to start a blog of my own, called Simply Loving Spencer, to share what we were going through.

And soon, other families of Pfeiffer children were getting in touch. It was a wonderful support – especially when little Spencer needed surgery on his skull.

‘We need to make more room for his brain to grow,’ doctors explained.

So just a few weeks later, Spencer was wheeled in for the eight-hour procedure.

During the op surgeons removed a 2.5cm strip of his skull, stretching from ear to ear, and replaced it temporarily with two special wire springs that would allow his head to gradually expand, creating more room for his brain.

Back at home two weeks later, our boy flourished with the help of regular therapy.

His brothers and sister were also an incredible support for him.

They were always doing silly things to make Spencer smile. It melted my heart seeing them care for him.

Spencer, aged two. (Credit: Supplied)

Four months later, once his skull had expanded, the special springs were removed.

Two years on, Spencer is a lively and intelligent little boy.

He’s proudly talking and loves chasing around the house after our dog, Pippa, playing with his siblings in the yard, and helping his daddy tinker with his bike.

Some kids stare, but he just flashes them his huge grin and waves.

‘Hi,’ he beams whenever he sees someone new. He is such a friendly and loving boy.

While he’ll need more surgery in the future, we have found out Spencer’s hearing has improved and he’ll most likely be able to take off his hearing aids in a few years.

Our little man has proved he’s a real superstar!

When I look at him now, I don’t really see any difference.

Yes, his eyes are big, but they’re also bright and they glow with joy as he learns new things every day.

His features are what make him special, and I’m so proud of the amazing little person he’s become.

Follow Spencer’s journey by visiting

Originally published in that’s life! issue 22 – June 5, 2014

Related stories