For 14-month-old Charlie Taylor and his parents Max and Claude of Evandale, it's been a rollercoaster journey since the minute he was born last year in July.
Charlie's birth was traumatic and as a result of this he spent the first few months of his life in the Neonatal Critical Care Unit of the Launceston General Hospital.
He was born with a rare condition that impacted his eyes, leading to his parents asking many questions - but mainly, why? Max and Claudia Taylor were told that it may be Mosaic Down Syndrome, but tests later confirmed this was not the case. After hours of research done by the family and a referral to a specialist, which took eight months due to COVID restrictions they got their answer.
Charlie was diagnosed with Blepharophimosis, ptosis, and epicanthus inversus syndrome or BPES. The condition is a rare congenital anomaly that means his eyelids are underdeveloped, and they cannot open as far as they should be able to. The condition is caused by a mutation of the FOXL2 gene.
As a result, he doesn't have the function of his eyelids and lacks muscles around his eyes. This also means his tear ducts don't work properly.
"I'd never heard of the condition before, like most people, so it was a big learning experience," Mr Taylor said.
"Mum spent hours online researching what it means and being such a rare condition, we wanted to be able to teach people about it."
Other than affecting his sight the condition can also lead to more problems in the future for Charlie.
"When he turns around a corner he doesn't see things, so he smashes into the wall," Mr Taylor said. "He lifts his head up to see so that can lead to issues with his neck and spine. For the first five months he didn't wriggle or move and the doctors thought it may have been cerebral palsy, but this was not the case. But he's super active now and runs around like mad, there's no stopping him."
In order to correct his vision Charlie needs to receive surgery overseas, which will prove costly to the family. To help with this a GoFundMe has been set up to raise the funds.
The specialist surgery to correct Charlie's eyes is only available in Europe. There are techniques in Australia that are available, but they provide less desirable outcomes and the possibility of ongoing surgeries needed throughout Charlie's life.
The surgery in Europe will involve a technique called frontalis muscle flap technique, which creates a vascular flap from the frontalis muscle that is rotated directly into the eyelid. This approach is more anatomical, avoids implants, but is more technically difficult.
The family was advised by one of the leading surgeons in Europe that the ideal age for Charlie's surgery would be about two to three-years-old for the best possible outcome.
"The GoFundMe will cover airfares, insurance and accommodation as we might have to stay for quite a while," Mr Taylor explained.
"It's a two-part surgery. So there will be five months before the second part of the surgery can be done. It will be too costly to come back home in between.
"His nan lives in England and due to COVID she hasn't seen him, she wanted to be here for the birth, but unfortunately she couldn't. She has led the charge with the GoFundMe and has donated all she can and has been super supportive to us.
"We all just want the best for him and to give him the best start to life possible."
Charlie is one of only two known cases of BPES in the state.
Due to the rarity of the condition Mr Taylor said there were a lot of questions from others about it.
"I get a lot of people asking me, why does he look like that, what's wrong with your babies eyes?
"We know when he goes to school that he could get picked on for it. We just want the best for him. We are part of an online support group and we asked a lot of questions."
With the condition being so rare, the family wanted to learn as much as they could.
This included reaching out to other families who have experienced BPES for advice and information.
"We asked one guy who has had the corrective surgery if he regrets having it done," Mr Taylor said.
"He said he'd wish he had it done earlier, due to the bullying he faced and people's naivety of not understanding his condition.
"Charlie is a very happy little boy, and he's at the age where he doesn't realise he's different to other people. We just want him to have the same vision and abilities that kids his age have."
The family is aiming to raise $70,000, with the fundraising page already close to $10,000.
"We just want the best life for our little Charlie."
To donate visit the GoFundMe page.
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Nikita McGuire
Born and raised in Launceston, Nikita is passionate about the stories that matter to locals. When she is not at work you can find Nikita adventuring around Tasmania or spending time with family and friends. If you have story tips or events in the Arts and Events sector, please contact Nikita at nikita.mcguire@austcommunitymedia.com.au or on 0437 031 581
Born and raised in Launceston, Nikita is passionate about the stories that matter to locals. When she is not at work you can find Nikita adventuring around Tasmania or spending time with family and friends. If you have story tips or events in the Arts and Events sector, please contact Nikita at nikita.mcguire@austcommunitymedia.com.au or on 0437 031 581
