The room was eerily quiet as doctors rushed around me. When I’d given birth to my first daughter Carla, two years earlier, everything had run so smoothly. But now, as doctors exchanged worried glances, a feeling of dread crept over me.
Is my baby girl okay? Why aren’t they letting me hold her?
‘Do dysmorphic facial features run in the family?’ a doctor asked me and my husband Paul, 39. ‘What are you talking about?’ I stammered.
The tiny pink bundle was placed in my arms and that’s when I noticed our bub’s head was quite big for her little body and her lips looked larger than they should be. To me, she was beautiful though.Paul and I had chosen the name Kate.
Just then, Kate started gasping. As doctors rushed her away, I was hysterical. What was wrong?
'Do dysmorphic facial features run in the family?' a doctor asked me...
When we were finally allowed into the neonatal ICU to see Kate, she was in a humidicrib, attached to a breathing machine. She looked so fragile.
Tests revealed her heart and lungs were okay, but doctors still didn’t know what was wrong. So that night, she was flown to Princess Margaret Hospital (PMH) in Perth for further testing.
Over the next four weeks, Kate kept losing weight. She struggled to breastfeed and never seemed full either. It was frustrating when all her test results came back normal. How can we help her if we don’t know what’s wrong? I worried.
After a month had gone by with no results, doctors sent us home.
‘Kate is an extra special baby,’ I explained to Carla. ‘We need to really look after her.’ Carla would read her little sister books and shower her with kisses.
'Kate is an extra special baby,' I explained...
Feeding Kate was a struggle. She had to keep breaking to gasp for breath. Her little body worked so hard that she often fell asleep during mealtimes.
Doctors warned me if she fed for longer than 15 minutes, she would use more calories than she’d gain so I had to be vigilant.
Just as I seemed to be getting it together, Kate developed a cough. Taking her back to PMH, I was devastated to learn she had severe bronchiolitis. After 10 days on a ventilator, doctors promised to find us some answers.
An X-ray showed Kate couldn’t feed properly due to respiratory issues. So doctors placed a feeding port in her stomach and we went home to wait for the other results.
It was four agonising months before we got the phone call that turned our world upside down.
‘I’m afraid Kate has something called Costello syndrome,’ a specialist told me. She explained it’s an extremely rare condition, which causes intellectual disabilities and distinctive facial features, including a large mouth.
It only occurs in one in 15 million births and Kate is only the 17th person to be diagnosed with it in Australia. Devastated, I dropped into my chair. My girl’s future seemed so uncertain.
A small part of me was relieved we finally had an answer. But reading more about her condition online, I struggled to come to grips with my girl’s diagnosis.
As I scrolled through all the information available, I burst into tears. Kate was at increased risk of developing cancer, her development would be delayed and she might not talk for a few years.
I also learnt that most babies born with Costello syndrome don’t make it past four months. Kate was eight months old. A little battler, she had already defied the odds, so we considered ourselves very lucky.
My girl's future seemed so uncertain.
She started physio to help her learn to crawl. ‘Like this,’ Carla said, moving on all fours. Trying to copy her big sister, Kate was soon rolling about giggling.
We all learnt sign language too. It’s wonderful to know the girls can communicate in their own special way. Whenever I catch them being mischievous, I let them know by signing ‘I see your plan!’
Kate is now 19 months and we’re determined to give her the best opportunities to thrive.
Next year, there’s an event in the US called the Costello Syndrome Conference. It will be a great opportunity to meet other families of children with Costello but there was no way we could afford it. So my friend, Rebecca, set up a GoFundMe page.
Friends, family and complete strangers have donated more than $10,000. Their generosity has blown us away.
...we're determined to give her the best opportunities to thrive.
Despite her complications, Kate’s just like any other toddler. She shouts with joy when we play music and dances around the house. She’s got the biggest smile that lights up the room.
Kate’s very attached to her rocking horse and throws tantrums. I don’t mind though – I’m just grateful she’s here with us. I truly believe Kate has a guardian angel looking after her.
We try not to look too far into the future. Instead, we take things day by day.
Our girl is one in 15 million. She’s a little miracle.
• Costello syndrome is a disorder characterised by delayed development, extra loose skin, unusually flexible joints and intellectual disabilities.
• Infants with Costello syndrome have poor sucking ability, swallowing difficulties and failure to grow and gain weight at
the expected rate.
• There are only 17 known cases of people currently living with Costello syndrome in Australia.
Originally published in Issue 41 of that's life! - October 13, 2016.