We had no reason to suspect anything out of the ordinary when our daughter Madeleine was born. Our world turned upside down when she was five weeks old and it became clear she was having seizures. At two months old, Madeleine began falling behind developmentally. For months, the doctors were unable to locate a specific cause and we clung to the hope that she might outgrow the seizures and catch up with normal kids her age.
At eight months old we realized that would likely never happen. After a number of lengthy hospital stays to gain control of her seizures, Madeleine was placed on a g-tube. We began searching for more answers as we accepted our new reality.
In May of 2016, when Madeleine was 15 months old, we finally received a diagnosis. A random gene mutation on her GNAO1 gene is the cause of her seizures and severe developmental delays. She recently turned two and continues making slow progress as her strength improves.
Madeleine has recently developed a movement disorder. During these movement episodes, her body moves without her control, but she’s still alert and cognizant. These movements last for a few minutes and happen one to four times a day.
Today, Madeleine can almost hold her head up, and we’re in the process of weaning her off of one of her four anti-seizure meds. Every dosage decrease results in an increase in the amount of smiles and eye contact. With continued therapy, we’re hopeful that she’ll one day sit up on her own, and maybe even walk. But only time will tell.
We hope to learn more about GNAO1 to help Madeleine and the other individuals like her suffering from seizures, movement disorders and developmental delays.