Life-changing surgery, the goal of the Evandale family | Examiner

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For 14-month-old Charlie Taylor and his parents Max and Claude from Evandale, it’s been a roller coaster ride from the minute he was born last year in July. Charlie’s birth was traumatic and because of it he spent the first months of his life in the Neonatal Intensive Care Unit at Launceston General Hospital. He was born with a rare disease that affected his eyes, which prompted his parents to ask many questions – but more importantly, why? Max and Claudia Taylor learned it may have been Mosaic Down syndrome, but tests later confirmed it wasn’t. After hours of family research and a referral to a specialist, which took eight months due to COVID restrictions, they got their answer. READ MORE: Sleeping Woman’s Lucky Escape After Fire Spotted At Home Charlie was diagnosed with blepharophimosis, ptosis, and epicanthus inversus syndrome or BPES. This is a rare birth defect that means his eyelids are underdeveloped and cannot open as much as they should. The condition is caused by a mutation in the FOXL2 gene. As a result, he lacks the function of his eyelids and lacks muscles around his eyes. It also means that his tear ducts are not functioning properly. “I had never heard of this disease before, like most people, so it was a great learning experience,” Taylor said. “Mom has spent hours online researching what this means and being such a rare condition we wanted to be able to teach people about it.” In addition to affecting his eyesight, the condition can also lead to other problems in the future for Charlie. “When he turns around the corner, he doesn’t see anything, so he smashes into the wall,” Mr. Taylor said. “He looks up to see, which can lead to neck and spine problems. For the first five months, he didn’t move or move and the doctors thought maybe it was cerebral palsy, but he wasn’t. But he’s super active now and running like crazy, nothing can stop him. ” In order to correct his vision, Charlie must undergo surgery abroad, which will prove costly for the family. To help with this, a GoFundMe has been set up to raise funds. Specialty surgery to correct Charlie’s eyes is only available in Europe. There are techniques in Australia that are available, but they offer less desirable results and the possibility of continued surgeries needed throughout Charlie’s life. READ MORE: Huge win for companies with $ 70 million backing Surgery in Europe will involve a technique called the frontal muscle flap technique, which creates a vascular flap from the frontal muscle that is turned directly into the eyelid. This approach is more anatomical, avoids implants, but is more technically difficult. The family were told by one of Europe’s leading surgeons that the ideal age for Charlie’s surgery would be around two to three years old for the best possible outcome. “GoFundMe will cover airfare, insurance and accommodation, as we may have to stay for a while,” Taylor said. “It’s a two-part operation. So it will be five months before the second part of the operation can be performed. It will be too expensive to get home in between.” Sa nan lives in England and because of this. COVID, she didn’t I didn’t see her, she wanted to be there for the delivery, but unfortunately she couldn’t. She led the charge with the GoFundMe and did all she could and was a great support to us. “We all want the best for him and to give him the best possible start in life.” Charlie is one of only two known cases of BPES in the state. READ MORE: Tasmanian cove ‘chokes’, but little is being done Due to the rarity of the disease, Mr Taylor said there were plenty of questions from others about it. “I get a lot of people asking me, why does he look like this, what’s wrong with your baby’s eyes?” We know when he goes to school that he might be bullied for it . We just want the best for him. We are part of an online support group and have asked a lot of questions. The disease being so rare, the family wanted to know as much as they could. This included contacting other families who have known BPES for advice and information. “We asked a guy who had corrective surgery if he regretted having it,” Mr. Taylor said. state. “Charlie is a very happy little boy, and he’s at an age where he doesn’t realize he’s different from others. We just want him to have the same vision and the same abilities as the children of his. age.” The family is aiming to raise $ 70,000, with the fundraising page already having close to $ 10,000. “We just want the best life for our little Charlie.” To donate, visit the GoFundMe page. Our reporters work hard to provide local and up-to-date news to the community. Here’s how you can continue to access our trusted content: Follow us on Google News: The Examiner

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