PCDH19 Epilepsy and The Cute Syndrome Foundation

In December 2012 we received a call that had been two years in the making—the results of yet another genetic test were back, but this time the test had finally found something.

Our daughter, Esmé, had struggled with a number of health challenges since birth including seizures, severe low muscle tone, and developmental delay. And now we finally had a diagnosis: PCDH19 Epilepsy. PCDH19 Epilepsy is a disorder that affects girls and women primarily, but not exclusively. It causes severe drug-resistant epilepsy and a range of developmental, medical, behavioral, social, and intellectual challenges. At the time of her diagnosis Esmé was one of approximately 150 confirmed cases of PCDH19 Epilepsy in the world. That number has approximately tripled since then, as access to testing is improving.

Research suggests that as many as one out of every ten girls who experiences a seizure before the age of ten has PCDH19 Epilepsy.

It is believed that there may be as many as 15,000-30,000 PCDH19 patients in the United States alone  The majority of these patients remain undiagnosed because PCDH19 Epilepsy is a rare disorder that is in the early stages of being understood. Symptoms include clustering seizures that onset in infancy or early childhood. Seizures in PCDH19 Epilepsy tend to cluster at regular intervals (weekly, monthly), are very drug-resistant, and often include apnea. Mild to severe hypotonia (low tone), language and other developmental delays, and autistic-like features are reported in a number of cases. Anecdotally, girls with PCDH19 Epilepsy tend to have personalities that are determined, lacking fear-responses, curious, and fun-loving.

We founded The Cute Syndrome Foundation in order to raise money for PCDH19 Epilepsy research and awareness projects.

Esmé’s diagnosis was the end of one journey—and the beginning of another. In May 2013 we established The Cute Syndrome Foundation with the goal of establishing medical research grants. The Cute Syndrome is registered as a tax-except organization under IRS section 501(c)(3). In our first eighteen months The Cute Syndrome Foundation has raised over $110,000. This year we co-funded the first PCDH19 Epilepsy competitive research grant with our partner organization in Italy, Together for PCDH19 Research. The two-year $135,000 research grant was awarded to the CNR Institute of Neuroscience Milan, Italy for Dr. Maria Passafaro and Dr. Elena Battaglioli’s research. Their proposal includes some very innovative and exciting work using exon skipping, which allows cells to “skip” over the mutated genes. Exon skipping is producing promising results in treating muscular dystrophy and spinal muscular atrophy, but, as far as we know, this will be the first use of this method in treating epilepsy.

In early 2014 we awarded a grant to Dr. Ann Poduri at Boston Children’s Hospital to help support her PCDH19 zebrafish research. This research is so innovative that Dr. Ann Poduri and Dr. Alex Rotenberg were selected by Boston Children’s President and CEO, Sandra Fenwick, to receive funding from The Richard A. and Susan F. Smith President’s Innovation Fund at Boston Children’s Hospital. With this support, Drs. Poduri and Rotenberg will continue their study of PCDH19-related epilepsy in zebrafish to evaluate the influence of genetic abnormalities on behavior and on electrical brain activity. Their goal is to establish a model of PCDH19-related epilepsy as a first step toward developing screens of targeted therapies for specific genetic epilepsies. You can read more about this research on our website.

PCDH19 Epilepsy Awareness is another important part of our mission.

We have engaged in a number of awareness-raising projects including a partnership with Positive Exposure and helping to establish November 9th as PCDH19 Awareness Day. We launched a new video for PCDH19 Awareness Day 2014 to help spread awareness of PCDH19 Epilepsy—and some of the determined, clever, and brave girls that live with PCDH19 Epilepsy. Visit www.thecutesyndrome.com for more information about PCDH19 Epilepsy and the work The Cute Syndrome is doing. Follow us on Facebook and instagram: @thecutesyndrome. If you are the caregiver of or an individual with PCDH19 Epilepsy, please request to join the private Facebook group run by TCS and PCDH19 organizations in Italy and Spain: PCDH19 Epilepsy Awareness where you will find information on ongoing international research and awareness projects.