As the ultrasound wand glided over my belly, I couldn’t wait to see how much my baby had grown.
My husband, Charles, had two kids from a previous relationship, Ethan, 13, and Lili, nine, and after suffering four miscarriages, we’d been blessed with a son, Aydan, a year earlier.
Now, 34 weeks along with our daughter, it felt like our family was complete.
But, as I lay there waiting to see her progress, the sonographer suddenly excused herself from the room.
When she returned, she was joined by a colleague in a white lab coat.
Something’s not right, I realised.
As the senior technician studied the screen, she turned to Charles and me with a sombre expression.
‘Your child is missing part of her brain called the corpus callosum,’ she said, explaining it was the area that connects the two cerebral hemispheres.
The rare congenital disorder, called agenesis of the corpus callosum (ACC), meant our girl would likely never walk, talk or communicate.
Shocked, I couldn’t believe what I was hearing.
Though they were confident of the diagnosis, I’d need to undergo an MRI the following day to be sure.
In the car on the way home, I was a mess.
‘It will be okay. We’ll get through this,’ Charles promised me.
That night, I researched as much as I could about the disorder.
There was no cure, but we learned that early intervention had proved successful for other children with the condition.
Back at the hospital the following day, our worst fears were confirmed.
The scan also revealed that our bub had fluid on her brain, so they’d need to drain as much as possible in the womb to get a clearer picture of what they were dealing with.
Following the painful procedure, our doctor revealed that even if our daughter survived birth, she might not be breathing, so they offered us a termination.
But as I felt her little feet kicking inside my tummy, there was no question about what we’d do.
‘I couldn’t save our babies when their hearts stopped beating before, but now I have a choice,’ I said, determined to give our girl a fighting chance.
When she was born in February 2016, the room was eerily quiet.
‘Is she breathing?’ I panicked.
But before anyone could respond, she let out a cry.
Sharing our first cuddle, my bub wrapped her tiny fingers around my hand as if to let me know she wasn’t going anywhere.
I knew you were a fighter, I smiled.
We decided on the name Angelina, after both my grandmother and Charles’ mum.
Meaning angel in Italian, it was the perfect fit.
The next few weeks were a blur of appointments and tests with specialists to determine the best course of action for Angelina.
That’s when we discovered she also had microcephaly, meaning she had a smaller head than usual for babies her age.
It felt like another huge blow, but we were confident early intervention therapy would help her thrive.
Still, there were some medical professionals who believed Angelina’s condition would never improve and she was unlikely to have any quality of life.
‘You’re not going to change her outcome,’ one neurologist said, sternly.
Though I never expected him to say our girl would become a scientist, I thought he would offer some hope.
Instead, we reached out to a neurologist in the US who recommended genetic testing.
It revealed a mutation in Angelina’s CASK gene, which affects brain development.
While the results wouldn’t change her diagnosis, it meant we could explore other treatments, such as intensive therapy.
As Angelina’s memory was affected, we were told repetition was essential, and she’d need physiotherapy, speech and music therapy for five hours a day to help ingrain basic tasks.
Incredibly, by age two, Angelina could say Mum, Dad, Nanna and Nonno.
Then, when she was three-and-a-half, Angelina took her first steps.
Watching as she placed one foot in front of the other, I’d never been more proud.
That same year, she started preschool with her big brother Aydan.
‘Her brain is different to yours, so she’ll always need your help,’ I gently told him.
Now four, Angelina is a happy, determined little girl.
Thanks to her ongoing therapy, and by playing with Aydan, she has defied the doctors and learned to say 75 different words, including drink, bowl and plate.
She’s also close to being able to say ‘I love you’.
Angelina loves to dance around to music and, like most other little girls her age, she is obsessed with Emma Wiggle!
She’s got such a big, warm smile that can easily turn a bad day into a good one.
Recently, we established the Angelina CASK Neurological Research
Foundation to raise awareness and funds for medical research.
Our hope is that one day there will be a cure.
There are still days where I feel sad that Angelina has to fight for every little step she achieves, but I can see determination in her eyes.
While it may not be the journey we planned, she’s taught us to appreciate the small things in life and it makes her milestones that much more special.
We want other families to know that science is not always black and white
– choosing hope, love and faith sometimes wins.
For more information visit https://acnrf.com/
