Yeran
Effie Panayiotou, 28, Macquarie Fields, NSW
The cashier at the supermarket smiled at me as she scanned my shopping.
‘Your little girl is like a tiny doll!’ she squealed, peering into my daughter Sophia’s pram. ‘
How old is she?’ ‘Two-and-a-half,’ I replied, and a look of surprise spread across her face.
She’d thought my girl was just a baby.
I have conversations like that every time I take Sophia out in public.
That’s because, despite her age, she’s just 75cm tall and weighs 7.8 kilos, the same as a seven-month-old bub.
Even in the womb, my girl was miniature.
Doctors had to deliver her early at 36 weeks because they were concerned about her size.
When she was born, Sophia weighed just over two kilos and was rushed straight to intensive care for monitoring.
I’ll never forget the moment I first saw her in the special-care unit.
As she lay in her crib, I stroked her tiny fingers.
‘She’s just perfect,’ I told my then husband Mark, now 38.
She was, but in those first days she struggled too.
Sophia didn’t eat well so she was slow to grow and it was 20 days before we could take our bundle of joy home.
Although her feeding improved, as the weeks passed it became clear our little princess wasn’t getting much bigger.
I tried giving her a special high-calorie formula, but it didn’t help. It was so frustrating.
Referred by our doctor for tests, I was relieved when they came back clear.
Perhaps Sophia’s just like me, I thought.
I’m only 155cm tall myself! But as my girl started to fall behind her peers at meeting milestones, I knew in my heart something was wrong.
At eight months she was 61cm tall and weighed only five kilograms.
It was another five months before we saw a specialist.
By then Sophia was one, but she’d hardly grown at all.
‘She could have a condition that is limiting her growth,’ the specialist told me.
‘We’ll need to do some tests to figure out what is going on.’
A month later, the results were in.
‘We believe Sophia has a rare form of dwarfism called Robinow syndrome, there are fewer than 200 cases worldwide,’ the doctor told us, explaining that the diagnosis was based on her size and facial features.
When I did some research I realised that people with Robinow looked just like my girl, with broad foreheads, wide-set eyes and flat nasal bridges.
A scan also showed Sophia’s bones were like those of a six-month-old baby.
No wonder she was having trouble keeping up with her friends!
Sitting there, I wondered what this all meant.
Fortunately, the doctor told me that Robinow isn’t a life-limiting condition and my girl could still lead a relatively normal life.
‘She’s still perfect,’ I told Mark as we left the appointment.
We weren’t going to be beaten by the news.
The next few months were filled with visits to early intervention practitioners.
Although Sophia faced many challenges, she would always meet them with a smile.
As she grew older her bright and bubbly personality shone through.
Sophia was so intelligent – quickly learning numbers and letters and lighting up any room she entered.
With the help of physio, she was soon standing and using furniture to push herself around. I was so proud of our pocket-sized princess.
But after her second birthday she was thrown another hurdle when she was diagnosed with high-functioning autism.
I couldn’t believe my girl would have to face yet another challenge.
But I was confident that she would handle it, just like she has handled everything else along the way.
Incredibly, as she’s got older she’s grown more than we expected.
Her features have begun to change and mature, and this has thrown the Robinow diagnosis into question.
Doctors say there is definitely some kind of genetic problem causing my daughter’s slow growth, but it’s possible it isn’t what we originally thought.
But it doesn’t matter to me what label we put on Sophia’s condition.
We just want to make sure she’s happy and healthy and is getting the best care possible.
Now, at two-and-a-half, she is undergoing tests to see if she is a good candidate for growth hormones.
If she is approved, they won’t help her to grow to the same size as other kids her age, but they will give her a bit of a boost.
Mark and I are no longer together but we adore our little girl and work together to be the best parents we can.
Sophia’s big heart and personality are the only things that count. After all, everyone knows good things come in small packages.
To see more, visit www.facebook.com/Robinowprincess
Originally published in that’s life! issue 2 – January 15, 2015
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