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- At six months old, Jacqui Sandilands, 30, from Wantirna South, Victoria, daughter Charlotte was diagnosed with dwarfism.
- Charlotte’s larger head and shorter limbs were both common traits of the condition.
- Now a sassy two year old, what Charlotte lacks in height, she makes up for with her huge heart.
Here Jacqui tells her story in her own words.
Watching in awe as two pink lines appeared before my eyes, I couldn’t believe it.
I was pregnant!
Just months earlier, in February 2022, I’d suffered a miscarriage at five weeks.
My then partner and I were devastated.
Desperate to be parents, we kept trying.
It was just the day before that I’d received a call from my dad, David, then 58, with news from home.
‘She’s happy and healthy, just a little smaller than average.’
‘Grandma Marie passed away this morning,’ he told me gently.
She was 90 years old.
I was sad I’d never see Gran, Dad’s mum, again, but something about her passing felt miraculous, as if she’d sent us a bub from heaven to love in her place.
Hearing our baby’s heartbeat during our first scan a few weeks later was incredible.
At 20 weeks, we discovered we were having a little girl.
To prepare for her arrival, we decorated the nursery with cute little elephants.
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But at 30 weeks, a routine scan showed our girl’s growth had slowed and she had reduced movement.
‘She’s happy and healthy, just a little smaller than average,’ my obstetrician explained.
Still they took precautions, and I returned to hospital for weekly ultrasounds, and her development was monitored.
Then in January 2023, at 39 weeks and one day, I was induced at hospital.
Despite having my waters broken, I wasn’t dilating quickly enough, so I was rushed to theatre for an emergency caesarean.
Moments later, our girl made her entrance. With a shock of dark hair and rosy pink lips, she was perfect.
‘Charlotte has achondroplasia.’
‘Welcome to the world Charlotte Marie,’ I beamed, testing the name we’d chosen in honour of Gran.
Whisking off our girl for genetic testing, doctors hoped to determine the reason for her stunted growth.
Afterwards, she was placed in the special care nursery and had a feeding tube fitted, as she was struggling to latch and was losing weight.
After a week in hospital, I was finally discharged, but Charlotte remained in care for another week until her feeding was under control.
Back at home, I doted on my precious girl.
At six weeks old, we had a check-up with Charlotte’s paediatrician who suspected she’d been born with a form of dwarfism.
READ MORE: ‘Little family with a BIG surprise!’
The doctor pointed out our girl’s larger head and shorter limbs, both common traits of someone with the condition.
Sending us for blood testing, we were referred to the Royal Children’s Hospital for further investigation.
When she was six months old, the results of Charlotte’s genetic testing were in.
‘Charlotte has achondroplasia,’ the paediatrician said, adding it was a form of dwarfism.
Would she ever learn to ride a bike and play with other kids? I fretted.
I also worried that she’d be picked on in the playground.
‘Charlotte will live a full and healthy life.’
The doctor eased my concerns.
‘Charlotte will live a full and healthy life,’ she assured me.
‘I’ll always be here to protect you,’ I promised my miracle girl.
Sadly, Charlotte’s dad and I parted ways around the same time.
But my dad and my mum, Dianne, then 58, were incredibly supportive.
‘Whatever you need, I’ve got you,’ Mum promised.
As a result of her condition, Charlotte suffered from low muscle tone and hypermobility.
READ MORE: ‘My Hubby’s Two Feet Taller Than Me!’
She’d become easily fatigued from simple movements, which meant she was delayed in meeting her milestones compared to other bubs her age.
But a constant fighter, Charlotte persisted and could sit at 18 months and pull herself up on furniture soon after.
Around the same time, Charlotte’s genetics specialist suggested she start on medication as part of a clinical trial to assist with her bone strength, growth and development.
Now when we return for check-ups every three months, Charlotte’s specialist monitors her height, weight, limb lengths and bloods to track how the medication is taking effect on her body.
While it is too early to see results of her treatment, specialists are happy with how Charlotte is developing and growing.
In March this year, Charlotte was also diagnosed with kyphosis and scoliosis – abnormal curves in her spine, both associated with dwarfism.
Going to see a physio, they suggested Charlotte try learning to walk with a posterior walker, to provide her with support from behind and help correct her alignment and posture.
But as a full-time carer to Charlotte, I couldn’t afford the $3000 price tag.
Sharing her story on GoFundMe, my heart burst with gratitude when family, friends and kind strangers donated for the life-changing equipment.
In one week, we’d surpassed the goal, raising $3261.
Any extra money was put towards Charlotte’s medical appointments while we wait for NDIS funding to come through.
When I strapped Charlotte into the walker for the first time, she took her first wobbly steps.
I knew that Gran was looking down on her and smiling.
Since then, Charlotte zooms around like she’s making up for lost time.
And in July, she even started day care, where she’s made lots of friends.
Now a bossy little two-year-old, Charlotte is just 72cm tall, about the size of a 12-month-old baby, but what she lacks in height, she makes up for with her huge heart.
‘Just a sec, Mum,’ Charlotte replies cheekily when I ask her a question.
She loves to sing her ABC and ‘Twinkle Twinkle Little Star’, cook in her play kitchen and dance along to her favourite movie, Despicable Me.
My miracle girl may be tiny, but she’s mighty!
