Charlie Fowler

Angelman Syndrome:

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.

People with Angelman syndrome have developmental problems that become noticeable by the age of 6 – 12 months. Other common signs and symptoms usually appear in early childhood like walking and balance disorders, gastrointestinal issues, seizures and little to no speech. Despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor. An individual with AS will light up a room with their smile and laughter.

Charlie:

Charlie was born in November of 2021. As this was our third kid, we figured we were on auto pilot and just we buckled down to get through the “baby stage”. During one of his routine appointments, his pediatrician noticed that Charlie was growing as expected, but he had several developmental delays. Together we decided it would be beneficial to start Charlie in both occupational therapy and physical therapy. During an OT session, it was recommended to get genetic testing done. I remember leaving that appointment so angry at even the suggestion, and I did not act right away. We did keep going to appointments and we were seeing signs of progress, but there were still delays present that we weren’t able to make sense of. In March of 2023 we decided to get the blood work done for genetic testing to see if we could get any answers. In April I received the email with the genetic results confirming that Charlie did, in fact, have Angelman Syndrome.

Charlie is the happiest and sweetest boy. His smile lights up the entire room. He is the strongest person I know and amazes us every single day. He is currently taking to his therapies extremely well, and we are seeing him do things we didn’t think would happen. His strength and determination shine through in his progress. On top of that, he is teaching all of us things I never thought I’d experience. While we have no idea what the future holds, we are learning to be content with living in the now.

This fundraiser will support our family and aid in the purchase of a safety bed which will grow with Charlie. This bed will provide our family with a sense of safety and security and give Charlie his own space to explore.