Charity for Charlie

On July 22nd 2020, Charlie Taylor was born to much excitement to first-tme parents, Max and his mother, Claudia, of Evandale, Tasmania.

Charlie's birth was traumatic. Because of feeding issues and rapid weight loss due to poor fascial muscle tone, Charlie spent his first months in the Neonatal Critical Care Unit at the Launceston General Hospital. Charlie’s eyes were very small, and we didn’t know why. We were told it's highly likely that he had Mosaic Down Syndrome and this would explain why his eyes were underdeveloped.

Months later, testing confirmed Charlie didn’t have Mosaic Down Syndrome and the mystery of his small eyes continued. We took matters into our own hands and got a referral to a Specialist Ophthalmologist and geneticist. This took a long time due to Covid -19 restrictions and after 8 months we finally got an answer. Charlie has Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) which is a rare congenital anomaly in which the eyelids are underdeveloped, meaning that they cannot open as far as usual and permanently cover part of the eyes. This is caused by a mutation of the FOXL2 Gene.

This means Charlie has ongoing issues with his eyes and sight because he doesn't have the function of his eye lids and lacks muscles around the eyes. He will require multiple specialist surgeries to prevent vison impairment and to correct the BPES.

With BPES being so rare and few options being available in Australia for specialist surgery, we have researched globally for a Paediatric Ophthalmologist and Oculoplastic Surgeon who has extensive experience with BPES corrective surgeries, and who uses the frontalis muscle flap technique. This technique replaces the silicone or fascia lata sling with a vascular flap from the frontalis muscle that is rotated directly into the eyelid. It's more anatomical, avoids implants, but is more technically challenging. If his condition goes uncorrected he will not have a full range of sight and will have spinal issues from the continuously tilting his head so that he can see.

We would need to travel to Europe to have this 2 stage surgery completed. With Covid 19 raising the price of airfares and accommodation dramatically we are hoping to raise $70,000 to cover the cost of multiple and ongoing surgeries, travel costs to Europe and ongoing associated costs for Charlie’s eye care. Although there are options for surgeries within Australia, these techniques are not sustainable, and provide less desirable outcomes and the possibility of life long ongoing surgeries.Being loving, caring parents we want the best option for our little Charlie and our research informs us that this is only possible in Europe, where the specialist surgeons have the skills and experience to perform the best possible surgery. We have been advised by the one of the leading surgeons in Europe that the ideal age for this surgery would be 2 to 3 years of age, in order to achieve the best possible outcome for Charlie.

This all started from a discussion with a Coles Team Member at the Checkouts at Coles Meadow Mews, we are happy to be able to play a small part along with the Team Members of Coles 16 Tasmanian stores and Max and Claudias family and friends to raise funds to support the ongoing treatment for Charlie.

This is just one of the ways we are trying to help along with in store events and donations from store team members , your support in helping us reach this target and sharing across your network is also greatly appreciated .