Esmé, PCDH19, and SCN8A
From the day Esmé was born it was clear that she was different from other newborns. She struggled to eat well and gain weight, her breathing was poor, and her muscle tone was very low. By nine months old Esmé started having seizures--she was also entirely tube-fed, unable to hold up her head, and not babbling. And we had no answers for why she was so sick.
Now Esmé is six years old. She has learned how to sit herself up and pull to stand against the couch. She can read full sentences and answer questions about them using word and picture cards She is still very small, tube-fed, and non-verbal--and we still don't really understand why. After years of testing, we have found small mutations in her PCDH19, SCN8A, TBL1XR1, and MAP3K7 genes.
What would you do if your child was born with a debilitating disorder that was underfunded and poorly understood? The answer for us was clear: We had to be certain these disorders were getting the attention and funding they deserve. And wanted to do so in a way that honored Esmé's tremendous spirit.
Because, despite of all of Esmé's medical and developmental struggles, she is just a kid...she is funny and loving. She is joyful. She is cute (and she knows it). She loves music. Esmé is also the most determined person you could imagine. And here at The Cute Syndrome Foundation, we draw from that determination to make things happen today, for Esmé and for others like her.
You can read more about Esmé's genetics in the book Around And Into The Unknown, by TCSF founder Hillary Savoie.