Charlie Mae Wilson is a 4-year-old girl who lights up a room when she smiles and giggles. Though she cannot speak, she instinctively hugs when she is held by loved ones. At 3 months old, Charlie was diagnosed with a rare genetic disorder called SMC1A epilepsy. Less than 100 people in the world have been diagnosed with the disorder.
There are various types of epilepsy – a neurological disorder characterized by seizures, sensations and sometimes loss of awareness. In Charlie’s case, SMC1A epilepsy is specific to females, is drug resistant and causes neuronal damage. It can also lead to a loss of cognitive and physical skills and can be life-threatening.
Charlie’s father, Tim, first noticed his infant daughter staring into space. Her parents took her to their pediatrician for answers. “We were scared and thought it was a seizure, but wanted to know what we were dealing with,” said Charlie’s mother, Hannah.
Charlie was referred to Children’s of Alabama, but before her scheduled appointment, she was admitted to the hospital during an emergency department visit. “Her seizures became severe,” said Hannah. “We felt safe at Children’s. If we stayed, people could see what we were seeing and how often they were occurring.”
Charlie underwent several tests under the care of a pediatric neurologist and was referred to a pediatric epileptologist. In the months ahead, the Wilsons frequented the hospital and Charlie was prescribed different combinations of seizure medications to control her condition.
Before her first birthday, Charlie stopped meeting growth milestones. A genetic blood test confirmed SMC1A mutation disorder. Tim found an online support group called the “SMC1A Sunshine Sisters” that has been source of strength for the family. “Although this is a rare disorder, we were so relieved to find that group. We weren’t alone and that was a great feeling,” Hannah said.
Charlie is under the care of a number of specialists at Children’s. When she was 2 years old, a pediatric gastroenterologist determined she needed a gastrostomy tube or G-tube for nutrition needs. Charlie could not crawl or walk any longer, but still enjoyed sitting upright.
When Charlie got very sick, she had an emergency intubation to help her breath and give her lungs time to heal. More recently, in an attempt to help her seizures, a pediatric neurosurgeon inserted a vagus nerve stimulator (VNS) to stimulate a nerve in her neck.
Today, Charlie has one to two seizures a day compared to the 100 seizures she would sometimes have in a 24-hour period. She visits Children’s about once a month, takes anti-seizure medications and undergoes breathing treatments. She also uses a suction machine at home to help clear her throat of secretions. Because she has a compromised immune system, Charlie is in homebound school. Her special needs teachers work with her online and she also has weekly therapy sessions.
The Wilsons are active in the Epilepsy Foundation. Tim is currently on the Epilepsy Foundation of Alabama Board of Directors, and Charlie is a member of the Kids Crew program, which connects children with epilepsy to each other and spreads awareness.
Charlie spends most of her time at home snuggling and playing with her baby sister Parker. “Parker loves hugging her and loving on her so much,” Hannah said. “Even when we are in public, people who don’t know us are automatically attracted to Charlie. They have a heart for her. She is obviously different, but everywhere we go, people love her. She has a way of making them happy.”