- A bruise on Alexandria’s baby boy Joey revealed an extremely rare bleeding disorder
- Joey was diagnosed with severe Factor V deficiency, a condition affecting just one in 27 million people
- Now two, Joey receives weekly plasma infusions that keep him alive and thriving
Here she shares her story in her own words.
As my hubby, Sam, tore open the little brown box, my heart hammered.
‘We’re pregnant!’ I cried, as the wrapping fell away to reveal a positive test and a purple baby onesie I’d packed alongside it.
‘No way,’ Sam, then 34, exclaimed, his eyes wide with surprise as he wrapped me in a cuddle.
It was January 2023, and I was so excited to be expecting my first baby.
Rockmelon became my snack of choice as the cravings kicked in – surprising, as I usually had no appetite for it!
At eight weeks, a scan showed our little bean was growing well, and at 12 weeks we gathered family and friends for a gender reveal.
‘A cloud of blue confetti cascaded around us.’
My heart leapt as we popped a balloon and a cloud of blue confetti cascaded around us. We were having a boy!
‘We can’t wait to meet you little one,’ I cooed.
Soon I was in nesting mode, writing to-do lists and decorating the nursery. And on October 20, 2023, our beautiful boy – Joey – arrived earthside.
Breezing through his tests, we were able to bring our boy home three days later.
Weeks passed, and evening bathtime became Sam’s specialty. He’d dry Joey off with a fluffy towel before pressing his lips against his ribs and blowing a big, loud raspberry.
Our boy would dissolve into giggles every time!
But when Joey was four months, I was dressing him when I noticed a purple bruise and raised lump in the spot where Sam’s lips usually landed.
‘Is this normal?’ I asked my mum, Rosie, then 62.
‘Best to get it seen by a doctor,’ she replied.
Sam was out of town so the next day I took Joey to Brisbane Children’s Hospital, where doctors ordered blood tests.
Then something shocking happened. I was taken into a private room where officers from Child Protective Services questioned me.
‘I would never hurt my baby,’ I told them through tears.
‘The news broke my heart.’
Finally a blood test proved what I’d been saying. But the news broke my heart.
‘Joey has severe Factor V deficiency,’ a doctor said, explaining it’s a bleeding disorder that affects the body’s ability to clot and create plasma – the watery part of blood that carries cells, proteins and nutrients.
Even an innocent bump meant Joey was at risk of life-threatening internal bleeding.
My heart pounded as I messaged Sam. The odds of this happening were incredibly low – one in 27 million in fact. Joey was the only child in Australia to have the condition.
It turned out that Sam and I were both carriers of the gene responsible.
A blood specialist sent us home with a long list of symptoms we needed to look out for – swollen joints or muscles, an inability to bear weight on a limb, a sudden change in personality, a loss of appetite or unusual tiredness…
‘If you notice any of those, bring Joey straight in,’ they said.
It was a lot to take in. But as Joey was so young, for a while we didn’t need to worry too much.
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That soon changed. By seven months, our boy was crawling. At nine months he was pulling himself up on his walker, and on one occasion he got his ankle jammed between the mechanism.
At first Joey wasn’t in pain. But by the next day he wasn’t putting any pressure on his right leg – a clear warning sign.
We rushed him to hospital.
Doctors discovered a nasty internal bleed, and stabilised Joey’s ankle with a cast, before administering three plasma infusions to help his blood clot.
‘I didn’t take my eyes off our boy.’
When the cast came off a week later, I didn’t take my eyes off our boy.
But two months later I was changing his nappy when he knocked his calf on the table.
Tears streamed down my face as I knew it meant another trip to the emergency room.
As I feared, Joey was bleeding internally again. He needed another cast and more plasma treatments.
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Doctors soon thought it would be wise to do more. Given that Joey was walking, he was at even greater risk of an innocent knock becoming deadly.
In March 2025 he had a port inserted on the right side of his ribs to make future plasma infusions easier and more comfortable for him.
Now every Friday is plasma day.
I give Joey a big koala cuddle as the nurses administer the three-hour treatment, while music therapists keep him entertained with singing and guitar-playing.
My boy, now two, is very brave.
‘I did it, I’m the man!’ he cheers when it’s over.
Back home it warms my heart to see Joey give his own teddy bears plasma infusions using his toy medical kit.
Looking back, it’s strange to think that Sam’s raspberry led to our boy’s hidden illness being discovered.
‘Joey is able to play like other kids.’
It’s thanks to plasma donors around Australia that Joey is able to play like normal kids his age.
They saved him, and I’m so very grateful.
