2016 PCDH19 Epilepsy Symposium

Welcome to the 2016 PCDH19 Epilepsy Professional & Family Symposium. We know that not every family facing PCDH19 Epilepsy is able to join us in San Francisco this weekend. The best way to keep up with the conference from afar is to watch the sessions online. The second best way to learn about the newest breakthroughs is to follow along here. 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.

Welcome and Introduction by Joseph E. Sullivan, MD

I am so excited to be sitting here surrounded by families and researchers who are dedicated to getting our kids better. They started the day by showing the video that many of us families contributed to as a way to thank the researchers. We’ll have that up as soon as possible. Keep an eye out for that.

Clinical Update on PCDH19-related Epilepsy and Proposal for a New Classification by Nicola Specchio, MD, PhD

Our girls tend to have focal seizures or “apparently generalized” seizures. He explained that means that the seizure looks like it is generalized but the EEG shows it to be focal. Typically, seizure onset is “stormy”. I’m sure that many of you parents can attest to that. Usually the seizures start during fever and they often continue to be triggered by fevers. This type of epilepsy often has lulls. Girls may stop having seizures for a few years at a time before they come back. We’re not sure if this is a natural part of the disease or if it is related to seizure treatments.

Most of our girls go through 3 – 9 anti-epileptic drugs and they average two medications at a time to work towards seizure control.About half of our girls have behavioral issues. A majority have some cognitive challenges but only about 10% are severely delayed. It seems like the earlier the seizures start, the chance of having behavioral or cognitive issues is higher.

Dr. Specchio has suggested that we reclassify PCDH19 as Fever Induced Cluster Epilepsy (FICE). He explained that name would better explain this disorder. Please feel free to add your thoughts on that change to the comments.

Zebrafish Models of PCDH19: Translating from the Clinic to the Bench by Annapuma Poduri, MD, PhD

Dr. Poduri has to catch a flight to Paris so she will be presenting earlier in the day than planned. She is an MD who treats patients but also conducts research. Her goal is to change the way that we treat our kids’ epilepsy so that we are more effective. She is looking at Zebrafish who have been bread to have this genetic disorder. She said that the fish are genetically about 70% similar to humans which is good for the study but she sees a malformation in their brain. That is important to recognize because people with PCDH19 don’t usually have any brain malformations that show up on their MRI.

I was curious about seizures in fish. Dr. Poduri explained that they watch the way that the fish swim and they look for certain patterns or erratic behavior.

I’ll be honest, I didn’t understand a lot of the science that she shared but I spoke with Dr. Poduri for a moment after she finished. She explained that her research is working towards creating a model that shows how PCDH19 develops and what it looks like on a neurological level. She said that she hopes to use this work to help design treatments specific for this disorder.

How Do PCDH19 Mutations Affect Brain Development? Insights from Mouse Models by Paul Thomas, PhD

Dr. Thomas came all the way from Australia! He said that they have identified over 100 different mutations on the PCDH19 gene that all seem to change the way that the protein works. Losing part of the PCDH19 “code” can cause cells not to group and segregate the way that they should during development. Interestingly, it seems like the mice’s brains look normal but their brain activity is very different. That is similar to what we learned about human brains from Dr. Poduri earlier.

If you have the ability to watch Dr. Thomas’s presentation, I highly recommend it. He is doing an excellent job of explaining the way PCDH19 works in a brain. My understanding is that girls have two copies of their X-chromosome