that's life (Australia)
FINDING A CURE FOR OUR GIRL
Despite her challenges, Naomi never stops smiling Dalal Baumgartner, 32, Hornsby, NSW
You did it!’ I cried, as Naomi blew out her candles. Her fifth birthday, it was the first time she’d done this. It was another milestone achieved.
Naomi didn’t crawl until she was one. She walked at two but kept tripping up. And she still wasn’t talking.
‘She’ll develop at her own pace,’ my hubby Ivan, 36, and I were told.
When she hadn’t improved after a year of speech therapy and physiotherapy, Naomi was sent for genetic testing.
Devastated, we learnt she was missing 50 genes including the SATB2 gene, responsible for communication and development.
Also known as Glass syndrome, it was so rare only eight others in Australia had the genetic disease.
It was associated with intellectual disability, speech and walking delays, and bone and teeth abnormality.
Occasionally, Naomi would choke. One day she went blue in the face after eating a small piece of apple. Luckily, I managed to get it out.
She sleeps with her mouth open, which can make it hard for her to focus when she’s awake. That’s because breathing through the nose improves the lungs’ ability to absorb oxygen.
‘Let’s do some colouring,’ I’ll say.
She’ll sit down with a crayon but five seconds later, she’s up wanting to do something else.
As Naomi can’t talk, we started learning word signing with her. We also downloaded an app with pictures, which, when pressed, says sentences such as, ‘I am hungry’.
When our girl sits in her stroller at the shops, strangers stare.
She’s too old for that, they think.
But she falls over easily and hurts herself.
Despite her issues, she always has a smile on her face and loves music and dancing.
This year, Naomi was one of the faces for the fundraising campaign, ‘Jeans for Genes’.
We were happy to help as one in 20 children are born with a birth defect or genetic disease.
We’re always hopeful a cure will be found for our beautiful Naomi, and for others like her.
So rare, only eight others in Australia had it