that's life (Australia)
My girl is one in 80 million
Brooke’s little girl has an incredibly rare condition
Cradling our newborn, Ariella, I felt overwhelmed with love. ‘She’s perfect,’ my husband, Daniel, then 24, gushed.
First-time parents, life was a blissful blur of nappies and feeds.
Breastfeeding was dif cult, though, as my girl struggled to latch on.
So I expressed milk and used a bottle, which helped. By the time Ariella was ve weeks old, I noticed her eyes darting erratically around the room, from one corner to the other.
‘Some babies just don’t have great eye contact,’ my midwife reassured me.
When Ariella was three months, we were told she had low muscle tone, which explained her struggle with breastfeeding.
Around the same time, Ariella started making terrifying, high-pitched screams. Nothing settled her and it sounded like she was in serious pain, so we took her to hospital.
‘It could be bad colic or a sore tummy,’ a doctor said.
The screaming episodes continued – but no-one could determine why.
At ve months, the three of us went out to lunch.
Sitting at the table, we noticed Ariella’s right arm was twitching.
She seemed happy enough, but as we drove home, both arms were twitching. ‘Pull over!’ I told Daniel. Phoning an emergency GP, they told us to check if her lips were blue – which they weren’t.
Still scared for our girl, we took her to hospital.
There, they ran bloods before transferring us to Perth Children’s Hospital for more tests.
My heart sank.
As we headed there, Ariella was asleep and the twitching had stopped.
‘We’re going to keep her in,’ a doctor explained, still not sure what was wrong.
The next morning, Ariella’s eyes started darting around again.
Then, her whole body convulsed.
Nurses gave her medication to ease the frightening ve-minute seizure.
Still unsure of the cause, specialists gave Ariella epilepsy medication and, days later, we were allowed to take her home.
But as the mystery seizures continued, we went back and forth often, desperate for answers.
The seizures, in her arms and face, only stopped when she slept.
Then, one day, my sweet girl was playing, when she suddenly became oppy and unresponsive.
It was like she was paralysed.
Again, medics were baf ed, and it took a whole day before Ariella was back to normal.
Soon the paralysis episodes were occurring every other day.
Why can’t anyone help her? I thought, heartbroken.
Each time, she lost all strength and couldn’t
move. I’d spend all day rocking her and telling her she was going to be okay.
The doctor couldn’t even tell us if she would ever walk. It was devastating.
Over the next two years, medication brought the seizures under control.
The inexplicable bouts of paralysis continued, though.
Despite it all, Ariella was a vibrant and upbeat little girl.
When she sat up at 10 months, and walked at 23 months, we were over the moon.
‘I’m so proud of our girl,’ I smiled to Daniel.
Then, when Ariella was three, we found out she was going to be a big sister!
Daniel and I were convinced Ariella’s condition was so rare, it had to be a one-off.
And when So a was born in 2017, she was ne.
Ariella adored cuddles with her little sister.
Then, Ariella’s doctor phoned with the results of lengthy genetic tests.
‘She has a gene mutation called TBC1D24,’ he said – so rare, it didn’t yet have a name.
He explained it was a recessive condition – and we discovered Daniel and I were carriers.
After a worrying wait, we were relieved to
nd we hadn’t passed it on to So a too.
Only 100 people in the world are known to have that mutation – which makes my girl one in 80 million.
As a result, there’s little information on treatment.
Heading online, Daniel and I emailed every researcher, scientist and author who had ever written about it.
We also joined a Facebook group, which connected us with others living with the condition.
It was great to speak with
parents in our shoes, and we learned so much about how symptoms vary.
Through research and anecdotal evidence, we found out that over-stimulation, such as being excited, heat or being tired can cause Ariella’s paralysis episodes.
So our girl, now six, takes a nap after school and we try to keep her calm and cool.
‘Mummy, I feel wobbly today,’ she tells me when she senses she’s about to lose muscle tone.
An episode means she spends the whole day unable to talk, walk or eat.
Sometimes, she’ll wake up for 10 minutes, and I’ll quickly make her eat a sandwich before she slips back into the paralysis.
Ariella can still hear when she’s in a paralysis and I read her books, which she tells me about the next day.
Sadly, some of the children we know with the condition have passed away, so we don’t know what the future holds. But we’re determined to keep positive.
Ariella is such a happy, resilient child, who is always smiling, and our two girls are really close.
So a, four, helps me bath Ariella and brings her teddies when she’s having a paralysis episode.
Now, I’m pushing for more research so we can beat this condition for good.
I feel so lucky that we get many good days with our special girl, and we enjoy every second. ●
Ariella is a happy, resilient
girl, who is always smiling