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- Holding her little girl Ella for the first time, Erica Sciascia, 33, from Sylvania Waters, NSW, was so in love.
- So when doctors diagnosed the missing skin on her body as epidermolysis bullosa, she was terrified for her future.
- Now Erica is raising awareness about her girls rare condition that is likened to having skin as delicate as butterfly wings.
Here Erica tells her story in her own words.
Gazing in wonder at the little bean on the screen, I was in awe.
At my 13-week ultrasound, I was over the moon to hear our little one was growing perfectly.
When the sonographer asked me and my hubby, Tom, then 33, if we wanted to know the gender, we jumped at the chance.
‘You’re having a girl,’ she announced.
‘I can’t believe it,’ I cried.
‘Anything worth having is worth fighting for.’
Already parents to our boy Archie, three, it hadn’t been an easy journey trying for a second bub.
We’d suffered two heartbreaking miscarriages and at times I wondered if we’d ever be able to give our son a sibling.
‘Anything worth having is worth fighting for,’ Tom reminded me.
Now, as we listened to our girl’s healthy heartbeat echo through the room, I realised how right he was.
Back home, we shared the news that our brood was growing with family and friends, who were all ecstatic for us.
And, when my belly began growing, we sat Archie down.
‘You’re going to be a big brother,’ we told him.
The sweetest little boy, he showered my growing tummy with hugs and kisses and read all his favourite books to his little sister.
‘Hello baby!’ he beamed whenever he felt a kick.
I can’t wait to watch them play and grow together, I thought.
‘She looks perfect to me.’
In August 2023, when I was 38 weeks along, Tom took me to hospital for my planned caesarean, while his parents watched Archie.
I was a bundle of nerves as I was wheeled into theatre, but the minute our girl, who we named Ella, was placed on my chest bundled in a blanket, I felt nothing but love.
The baby we’d wanted for so long was finally here.
As I soaked in her rosy cheeks and beautiful blue eyes, I hadn’t noticed the doctors gathering around my bedside.
Then they whisked Ella away for testing.
It was six hours before a specialist doctor returned her to us.
‘They’re concerned about missing skin on her feet,’ Tom said, adding that it might be a birthmark or discolouration.
‘She looks perfect to me,’ I said.
But examining my girl, I saw that her right knee, right foot and left ankle were red raw.
‘Ella has epidermolysis bullosa (EB),’ the specialist said, explaining that the rare genetic condition caused fragile, blistering skin that is likened to living with third degree burns.
‘Will she be able to play with other kids and go to school?’
‘The wounds on her limbs are most likely from her rubbing her legs together in the womb,’ she added.
Tom and I were terrified.
What would this mean for our girl’s future?
Will she be able to play with other kids and go to school? I fretted.
Researching epidermolysis bullosa online, I discovered it affected about 1000 Aussies, often referred to as ‘butterfly children’ as their skin was so fragile.
Epidermolysis bullosa is a rare genetic disease that causes very fragile skin. The skin tends to develop blisters and wounds at the slightest touch, bump or mild friction. The blisters are most often found on the feet and hands, but can also form on the face, nappy area and mouth. Living with EB has been likened to living with third degree burns.
What epidermolysis bullosa (EB)?
Sadly, there was no cure.
She’s our little butterfly girl, I thought, hopeful we could give our daughter the best life possible.
In hospital, we learned how to handle Ella with care, as even lifting her for a cuddle could cause her skin to blister or tear.
When Ella refused to breastfeed, she developed blisters in her mouth from a regular bottle.
So we worked with a dietitian to transition Ella to a teat that didn’t require hard sucking.
‘You have to be gentle with my sister.’
To support her wounds and prevent more from developing, Ella’s skin had to be covered in bandages that were replaced every two days.
After bathtime, we individually wrapped every finger and each foot to prevent her from scratching herself.
We also had to cut the elastic out of nappies, so it didn’t rub her skin, and dress her in soft materials like cotton and bamboo to avoid injuries.
After three days, Tom’s parents brought Archie to visit his sister in hospital.
‘Ella has special skin so we have to be extra careful when we’re holding her,’ we explained, as he stared at his sister in wonder.
Tom and I were grateful when a support worker from Debra Australia, a charity supporting families affected by EB, visited us after Ella’s birth.
‘You’re not alone, we’re here to help,’ she said, supportively.
When Ella was almost three weeks old, we felt confident to care for our girl on our own at home.
Navigating the newborn stage with a three-year-old as well wasn’t easy, but Archie was always happy to help out.
While we replaced Ella’s bandages, he’d distract her by singing nursery rhymes.
‘Twinkle twinkle little star,’ he’d chirp.
There are around 1,000 people in Australia living with some form of EB and over 500,000 worldwide. EB may not always be evident at birth. Milder cases may become apparent when a child crawls, walks, runs or when young adults become more physically active.
How many people have epidermolysis bullosa?
And when someone came over, Archie became Ella’s biggest protector.
‘You have to be gentle with my sister.
She’s got special skin,’ he told everyone who met her.
Now one, Ella hasn’t let her condition hold her back.
While there is no cure for EB, many types can be well controlled with therapies that aim to improve quality of life. Treatments include reducing friction to prevent blistering, treating wounds as soon as possible, reducing infections with topical treatments and antibiotics, maintaining good nutrition with a balanced diet and alleviating pain and discomfort with symptom care and appropriate pain medications.
Is there a cure for epidermolysis bullosa?
She’s such a happy and cheeky little girl, who loves bopping to music, birdwatching in the backyard and socialising.
With bandages on most of her body, she’s still mastering how to crawl and stand, but she’s close.
Returning to the EB clinic at Sydney Children’s Hospital every three months for development reviews, her specialist has assured us that she will get there in her own time.
And while there will be things she can’t do due to the risk of injury, such as playing sports, we want her to live as normal a life as possible.
Caring for a child with EB has been an adjustment, but we count our blessings that we have Ella every day.
She’s our beautiful little butterfly.
To support kids like Ella, visit donate.debra.org.au
