Wesley was born on his due date in May 2020. During the normal 20-week pregnancy ultrasound, the doctor noted a choroid cyst and echogenic foci of the heart. Genetic testing was completed to see if there was a genetic reason. The tests were negative, but only covered the more common syndromes and conditions like Trisomy 21.
Wesley’s parents were told there was a very minimal chance he could have another kind of condition, but the Doctors could not tell for sure at the time and it was most likely nothing to worry about.
When the nurses and doctors were conducting his screening immediately after birth, they noticed something was not typical with Wesley’s eyes. Both his eyes were clouded over, they were much larger than typical, and he was extremely sensitive to light. The doctors were not able to see a red
reflex and were concerned that Wesley may have cataracts.
At three days old Wesley took the journey to Penn State Hershey Medical Center and received his official diagnosis of congenital glaucoma. Due to the glaucoma and other differences in his eyes, Wesley was referred to the Pediatric Genetics Department for testing. The results showed a
deletion of the FOXC1 gene, ARS type 3. There are no other known cases of ARS in either side of the family.
Wesley had surgery at one month old to help lower his eye pressure and has been on regular drops to help try to maintain a healthy pressure. The treatment will change over time depending on his needs.
Due to the risk of hearing loss, Wesley will receive regular hearing tests to ensure any issues are caught early. The local Early Intervention program is supporting Wesley and his family to track his development and offer services and supports that will help him continue to develop new skills and help him live his life to the fullest.
Wesley loves to cuddle, smile, hold/mouth his toys, and listen to his family sing and talk to him.
He is the youngest child and has two older sisters that adore him. His family and friends are excited to watch Wesley grow and learn new skills in the years to come!
