Chelsea Italiano wants nothing more in the world than to be able to look into her baby boy’s beautiful eyes — and for him to be able to go outside and see the world around him.
Her 11-month-old son Lochlyn was born with a severe case of the very rare condition called blepharophimosis, ptosis and epicanthus inversus syndrome, which means he can only open his eyes a few millimetres.
“He’s not able to open his eyes like you and I,” Mrs Italiano said.
“The blepharophimosis means the whole eye fissure is too small for the eye and the eyelid to operate on their own. The ptosis is the eyelid can’t blink on its own — so when he needs to blink he has to move his eyebrows to open his eyelid.
“It only opens up a little bit because his case is so severe. And he also has the epicanthus inversus, which is a skin fold that blocks the corner of his eye so the nose ridge is a lot wider than the normal person.”
Without surgery, Lochlyn may be left permanently blind and will likely develop spinal problems from having to arch his back to be able to see.
“If he doesn’t get the surgery then he will have vision reduction, so over time the brain will start to think that his little gap that he sees out of his normal, so the brain will reduce vision,” Mrs Italiano said.
“So he will potentially . . . go blind if he doesn’t get the surgery.”
The Ellenbrook family is desperately trying to raise enough funds to travel to Spain in September for an operation by a doctor who has helped other babies with the same condition.
That is on top of Lochie’s father Anthony working as many overtime hours as possible to save cash and his mum working part-time while looking after the toddler and his three-year-old sister.
The family has now raised enough for the surgery — $30,000 — but is hoping to raise up to $100,000 to cover travel, insurance, medication and ongoing care for Lochie.
“It’s been a very stressful time because there’s no support out there to guide you or to answer your questions, so every time you go to the GP, they are like: ‘What is it?’ and they have to Google it in front of you and they read the same information that you’ve read 100 times,” Mrs Italiano said.
“All the specialist appointments, there’s such a long wait period when you go public, there’s no urgency. So we’ve now gone the private route which is a little bit quicker but again they don’t seem to want to rush to fix anything, which is a shame.”
Mrs Italiano said despite the condition, Lochie was a “bubbly” and “happy” baby. But he is very light-sensitive, meaning he is unable to go outside for long because “he just cowers into you and hides because of the sunlight”.
“That’s been difficult in itself because you just want him to be a normal baby,” she said. “You want him to be able to go outside but we haven’t been able to do that because we don’t want to affect his eyes.”
She said she has never seen properly into her son’s eyes and can’t want to see them open.
It’s been a very stressful time because there’s no support out there to guide you or to answer your questions, so every time you go to the GP, they are like: ‘What is it?’ and they have to Google it in front of you.
“My husband, at the ocular plastic appointment where she confirmed that he had the severe case of BPES, she was testing his eyes and she actually lifted up the eyelid and opened it as best as she could,” Mrs Italiano said.
“My husband actually saw that. His face just lit up. He was like: ‘Oh my God, it’s so different to see his eyes open. He’s got beautiful eyes.’
“But I said, I don’t want to see until the surgery is done. I want to have that moment and be like: ‘Oh my gosh, yay, his eyes are open’.”
The family is holding a retro musical bingo night at the Swan Districts Football Club on May 6 to raise funds for Lochie.
To donate to the GoFundMe Page, click here: https://www.gofundme.com/f/lochies-bpes-journey