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PCDH19 Conference live-blog

Welcome to the 2018 PCDH19 Epilepsy Professional & Family Symposium. We know that not every family facing PCDH19 Epilepsy is able to join us in Sonoma this weekend so we'll be sharing all the happenings here.

My name is Le Shepard and my daughter, Alyssa, has PCDH19. I’ll be live blogging and summarizing the points that stick out to me as a parent. I’m not a medical doctor so please don’t consider anything I write to be medical advice but I’ll do my best to keep you updated as the day progresses. Bookmark this page and check back throughout the weekend.

Key terms and notes

We often say our kids have PCDH19. Actually, they have mutations in the PCDH19 gene. Some of the researchers will be studying the gene in general to help us better understand how it works and what it does. Others will be explaining the mutations. You can learn more about PCDH19 here.

Mosaic males: PCDH19 can be carried by males or females but usually only girls have symptoms. Mosaic males have symptoms because of a difference in how their genes are expressed.


Dr Sullivan is starting us off and sharing the thank you video that many of the families contributed to. We absolutely cannot express our appreciation enough for the hard work our doctors and researchers do to find a cure.


My favorite thing about this conference is the mix of doctors, researchers and families. There are so many people here who have been impacted by PCDH19. Lacy is one of those researchers. She has lead our registry and drastically impacted the future direction of PCDH19 research. We're proud to award her the Spirit of Progress Award.