When my daughter was born, it became clear fairly quickly that she likely had some form of a genetic condition. At birth, she was very low tone and had trouble eating. She began missing developmental milestones, aspirating, and, eventually, having clusters of seizures weekly.
And despite our doctors’ best efforts, for almost two years, we had no explanation for why Esmé was experiencing these problems. But although in this way Esmé was a mystery, what became clearer and clearer about her was her spirit. She was (and is) joyful, goofy, clever, funny, frighteningly determined…and remarkably cute. So, in the absence of a diagnosis for Esmé we began calling her symptoms collectively: The Cute Syndrome (a term lovingly coined by our friend Dana).
Just over a year ago, right around Esmé’s second birthday we were given a diagnosis of PCDH19 Female Limited Epilepsy (FLE). PCDH19 FLE is a form of genetic epilepsy associated with clustering drug-resistant seizures and wide spectrum of developmental delay and behavioral challenges. There are approximately 200 cases currently diagnosed worldwide. However, mutations in this gene are expected to be more wide-spread accounting for perhaps as many as one in 10 women who experience seizures prior to age 5.
Since receiving Esmé diagnosis, my family has formed The Cute Syndrome Foundation, which is dedicated to funding medical research and raise awareness of this disorder. In under a year we have raised over $63,000 to fund our first grant and other special projects. We have raised awareness of this disorder in our community and participated in an international community of families struggling with this disorder. More than that, every day we find HOPE in our efforts…a belief that help for girls like Esmé may be just around the corner. I know it will come. With hard work, fundraising, and awareness, it will come.