Our BUTTERFLY girl
Lyla’s girl So a has a rare condition leaving her skin as fragile as a butter y’s wings Lyla Fontana, 34, Kurunjang, Vic
As I recovered in the birthing suite, my husband Giuseppe, then 32, and I gazed in awe at our newborn daughter, Sofia.
She was only minutes old, and we were already completely smitten. I’d do anything to
protect you, I thought. Marvelling at Sofia’s 10 little fingers and 10 little toes, Giuseppe gasped.
‘What happened to her foot?’ he asked, concerned.
Looking down, I could see a raw wound on the top of her left foot that looked like a nasty burn.
‘Sometimes a baby’s skin isn’t fully formed by the time they’re born, but it usually grows later,’ the doctor explained, easing our worries.
We spent a blissful hour consumed with love for our baby girl, when another doctor came to see us.
‘I suspect Sofia might have a condition called epidermolysis bullosa, or EB, affecting her skin.
‘I want to transfer her to the Royal Children’s Hospital in Melbourne so their dermatology team can take a look at her foot,’ the doctor told us. I was stunned.
Giuseppe went with Sofia to the NICU and, despite the doctor warning me not to google EB, I had to know what we were potentially facing.
By the time Giuseppe came back to the room an hour later, my joy at having Sofia had been replaced with terror.
I’d found out that EB was a group of genetic diseases resulting in skin that blisters and breaks if bumped, rubbed or exposed to heat.
I also found out that some children born with severe variants of EB don’t survive beyond their teens.
‘They call babies with EB butterfly children, because their skin is fragile like butterfly wings,’ I told Giuseppe, distraught.
‘Let’s not panic until we know more,’ Giuseppe comforted, but I could tell he was concerned too.
Sofia was transferred to the Royal Children’s Hospital NICU the next morning. Giuseppe and I went to join her later that afternoon when I was discharged.
The nurses had bandaged Sofia’s tiny foot and wrapped our girl in silk to minimise the friction on her skin.
Despite the blisters that had formed on her chin and fingers overnight, Sofia was sleeping contentedly.
Diagnosing EB involved blood tests for Sofia, and genetic testing of my and Giuseppe’s saliva.
The results would take weeks to come back, but as more blisters developed on Sofia’s skin, the doctors were confident she had EB – they just didn’t know what type.
All I wanted was to hold and comfort my precious baby, but I had to learn how to do it safely.
An EB nurse taught me how to bath Sofia in diluted bleach and salt water, to help soothe her skin and prevent infection.
‘Let’s not panic until we know more’
I also learned how to lance new blisters before they got too big, cover them in a paste of zinc cream and castor oil, and dress them with bandages.
To avoid blisters forming inside her mouth, I fed her with a special bottle that didn’t require her to suck.
I also cut off all the elastic from her nappies so they didn’t break her skin – but making them trickier to keep up.
‘You can also turn her clothes inside out so the seams don’t rub,’ the nurse explained.
The more I learned the more confident I became.
By the time Sofia was discharged a month later, at the end of July 2022, I was no longer scared, just excited to take her home.
The test results arrived when Sofia was six weeks old. ‘Sofia has one of the more serious varieties called recessive dystrophic EB, where blisters form in the inner layer of the skin,’ the doctor explained.
Giuseppe and I did our best to stay positive.
Sofia was such a happy bub, but over time I learned to tell when her skin was causing her pain. Instead of giggling and playing, Sofia would become quiet and want lots of snuggles.
‘Mummy will get you some medicine,’ I’d tell her, and as soon as
Sofia was feeling better, she’d be all smiles again.
When she was 14 months old she took a tumble off the lounge, and Sofia’s skin erupted in painful blisters.
After that she quickly learned to carefully hang onto the chair cushions while lowering her feet to the ground.
Now 21 months, Sofia is a bright and bubbly chatterbox who loves The Wiggles and Taylor Swift.
While her skin requires constant care and attention, it isn’t anywhere near as bad as the photos
Sofia is a bright and bubbly chatterbox
that I saw when I first googled the condition.
I’ve since read about people well into their 50s who are able to manage their condition and are living great lives.
My mum, Rosa, a dressmaker, has made silk mattress covers, blankets and dolls, so Sofia can cuddle up without getting blisters.
The pain in Sofia’s left foot has delayed her walking, but we’re working with a podiatrist on getting modified shoes for her to wear. With the protection of bandages, gloves and knee pads, she happily crawls around the house.
Our girl also has a physio and occupational therapist, and does hydro therapy and music therapy.
I check Sofia’s skin for new blisters at every nappy change, but now she lets me know when her skin is sore, so I can tend to it quickly.
‘Blister,’ Sofia will say, pointing to where it hurts.
I love nothing more than watching Sofia have fun playing with her cousins, Charlotte, 14, Livinia, 11, Ebony, eight, and Dante, six.
They treat her just like any other typical kid, just with a little more care.
And that’s what I want for Sofia’s future – that she lives a happy and fulfilled life, and does everything she wants to do while staying safe. ●