“My daughter Esmé is three years old. She is beautiful and silly and clever. She has the kind of smile that just pulls you into her joy. Like most three year-olds, she loves music, playing, and generally being adored. Esmé is also one of only approximately 200 girls and women worldwide currently diagnosed with a rare genetic condition known as PCDH19 Female Limited Epilepsy (FLE). PCDH19 FLE causes drug-resistant epilepsy and a range of developmental delays in girls and women. Additionally Esmé is suspected of having at least one other disorder that explains the severity of her physical delays and other medical challenges. Esmé’s life has not been easy. She has struggled with her health since birth, and she has a series of medical complexities that require the care of around 20 doctors both locally and at Children’s Hospital in Boston.
These are important things to know about Esmé. But what is most important to know about Esmé has everything to do with her attitude and approach to life. She is the happiest and most determined person I have ever known. And her personality has been what has pulled her—and those that love her—through some very difficult times. As you look at her photos, I know that you will all see what an extraordinary person she is.
As her mother, I have taken my inspiration from her in sharing her story and trying to work toward making her life better. In May 2013 we started The Cute Syndrome Foundation as a means to raise awareness about and research funding for PCDH19 FLE. Since then we have raised over $63,500, and we will be granting our first medical research grant early in 2014. The Cute Syndrome, which is the loving way we refer to Esmé’s condition, was conceived to honor Esmé, and not to define her by her diagnosis. In addition to our fundraising efforts, we share details of our life with Esmé on The Cute Syndrome blog and facebook page. We want people who follow her to understand that while Esmé battles daily for her health and safety, she does so with such a tremendous spirit of joy and goodness that it is humbling to witness.”
-Hillary (Esmé’s Mom)