Tell us about yourself and the patient in your life:
Charlie Mae, from Alabama, was born in April of 2016. A loved and beautiful baby girl who appeared to be perfectly healthy. At 3 months old she had her first seizure. After multiple failed medications, countless EEGs, and hospital admissions, she had her longest seizure free period of 1 month in the winter of 2016. Around that same time she stopped meeting milestones and later received genetic panel results revealing that she had a SMC1A mutation. Charlie is now 5 years old and has seizures daily. She has a VNS and also tried the keto diet in attempt to control her seizures…neither were successful. She is nonverbal, g-tube fed, and uses a wheelchair. She enjoys snuggling her baby sister and dog Lilly. Charlie is perfect to her family and has the most beautiful smile that will fill you with joy!
What is your hope for the future for your loved one:
I hope that Charlie can progress in all of her abilities and find relief from seizures. My biggest hope for her is for her to always feel loved and accepted for who she is!