Good morning, everyone. Welcome. My name is Paul Cooper, and I'm the facilitator for today's event. I hope you got your steps in on your long journey to the tangerine ballroom. I know I did. Today, we have a great symposium with some really wonderful speakers, and I want to walk you through some of our early logistics, ways that we're going to help you have this be a exciting, interesting, and hopefully educational experience for each of you. So let's get a little quick preview. We are here until noon. We'll have a break in the middle. And some of the topics that we'll be covering today, we'll start with hearing the patient and family perspective and things that really clinicians ought to know from a parent's point of view. We'll have two experts in genetic testing, who will be here to talk about their perspective and the clinical ramifications of the work. And then the transition, we'll have speakers speaking to the transition to adult care. As I said, we'll also have a break for you all in the middle. We'll also then be looking at some case scenarios in dilemmas in genetic testing, and then some how that affects treatment. And we'll wind down with Dr. Sarah Ketley, who's our co-host for today. She's going to give us some concluding remarks and bring us to an end at around noon. So for you all as participants, remember, I'm calling you participants and not audience members, because we're not looking for you to be static and absorbing like a sponge. We want you to be as engaged as possible in a room like this with the speakers and with the work that we're doing here. So the first thing I want to suggest to you is set that cell phone, your laptop, your iPad to silent or vibrate, so we can kind of be together here in one space and not too distracted by the outside. It'll also help not to distract our speakers. We will also have several opportunities for short conversations with you and another colleague around you to talk about what is it that you're learning, what is it you're seeing, what do you still have questions about. And our speakers, we have encouraged our speakers to construct their discussions with you in a way that encourage more interaction as well. So there will be lots of opportunities. If you were hoping to fall asleep during this session, this may not be the one. Okay, we will have lots of opportunities for some good conversation and hopefully lots of learning. Let me point out one other thing you should have on your table, a card that looks something like this. If you scan the QR code on the front here, you'll be able to submit questions and comments to the speakers and we'll get back to you after today's symposium with the responses. You can also, if you have any questions about the agenda I just showed you or the agenda for the larger event, and also there will have access to other resources like references that our speakers may make reference to and also the slides themselves. So if you want, you can take a picture of the slides or you can just get this QR code and get the actual slides themselves and we'll send that to you afterwards. You have to give your email, but I assume that'll be a price well worth to get the slides. Okay, so that's enough of that. What I wanna do, as I said, I wanna give you opportunities to get to know one another and also to start to think about what is it we're doing here? What is this topic? What does it mean to me? So the first thing I wanted to have you do is to find one other person sitting someplace near you and you could pick the person that you walked in with, that would be fine, or that friend that you haven't seen in a while, that would be fine too. But it also might be nice to just choose somebody you don't know, somebody who you're seeing for the first time. Get into a pair and have a five minute conversation with that one other colleague. What are one or two issues or questions that you'd like to know about? Essentially, why did I come to this symposium? What is of interest to me in this topic? So find a partner, five minutes, and then we'll get started. Thank you. Good morning, everybody. Hopefully you've all had time to talk with someone you didn't know or someone you did know. So wrap it up. Oh. I'm very kind, I've got nothing but empathy. So good morning, I am Anoop Patel. As your program says, no, I am Scott Perry. I will be playing the part of Anoop Patel today in the introduction to today's program. And so my job is to introduce you all to the Child Neurology Foundation. And that's what I'll be doing in this section. As part of that, of course, my disclosures are here. And before we begin, we want to acknowledge some people that are very important to this program today. That first being acknowledging those who have provided educational grants for this educational activity, Jazz Pharmaceuticals, Marinus Pharmaceuticals, as well as UCB. So today, by the end of the program, we hope that you will go home with an understanding of when is the right time to conduct genetic testing. And then also, when you get that genetic testing, how do you understand the results that you are getting back? And what impact does it have on the treatment of the patient? And then finally, the most important and end step of dealing with genetic results is how do you communicate those results to the patient and their family? And how do you answer the questions that inevitably will come from them about these results? There's also some advocacy partners that we need to thank that are key to this activity. The Epilepsy Foundation, the International Foundation for CDKL5 Research, the Dravet Syndrome Foundation, the Phelan McDermid Syndrome Foundation, the Epilepsy Alliance of America, and finally, the Pediatric Epilepsy Research Foundation. So now let's talk about the Child Neurology Foundation, an organization that I'm proud to be a part of. I'm proud to be a member of their board. I think you all know that when a person has a neurological disorder, it can be both uncertain and it can be very isolating. And at the foundation, we wanna make sure that no one ever takes that journey alone. Not just the patient, but the people that care for the person with that disorder. No one should take the journey alone. And that's why the Child Neurology Foundation's mission is to improve care experiences of children that live with neurologic conditions by two ways. One, building meaningful connections between families and the medical professionals, and then serving as a collaborative center, a convener for education, support, and care advancement. As you all know, there are a lot of children who suffer with disorders of the nervous system. There are 14 million in the United States. And more and more, we are seeing that these are being subdivided into quite rare and ultra-rare diagnoses that have neurologic components. And all that needs to be cared for by a very small population of pediatric neurologists, less than 3,000. As both families, patients, and professionals, we share a lot of the same problems, honestly. When you look at our needs assessment survey from the Child Neurology Foundation, we see that families, nearly half of them, report being very or extremely stressed and feeling like they're in a crisis situation daily. Nine out of 10 say they either work late, they have to leave early, or they simply have to take time off just to provide care for their kids. On the flip side for professionals, half of us report that we feel burned out at least once a week, with 10% of us saying we're burned out every single day we go to work. And 98% of neurologists say they simply do not have enough time to provide the type of care they want to provide to their patients during their appointments. Families have to coordinate care across as many as three to 10 different professionals. And 50% of them tell us that they need significant help with finances, treatments, and access to their neurologist. Again, on the provider side, seven out of 10 report that they don't feel like they have enough education, enough CME to keep up with what's going on. And they see significant barriers to providing ideal care, most notably problems with insurance and reimbursement, and simply the lack of all the ancillary support that is necessary to care for some of these very difficult cases. So why do we approach this now? Why do we talk about this topic now? You're all aware that genetic testing is becoming increasingly available. It's being done more and more. As we do it more and more, we're gonna get more and more diagnosis. Those diagnoses are gonna need to be cared for by an overworked and frankly, under-trained workforce at times, not ready to handle some of these ultra-rare diseases that we may not all be familiar with. Take that and combine it with the families who are dealing with the living lift of having to care for a child with these disorders, and you find that you have people falling through the cracks with a system where there's lack of coordination, education, and social services. And that's really where the Child Neurology Foundation tries to help fill that void. I want you to know that the Child Neurology Foundation decides what we are gonna do, the programs that we are gonna implement, not because we sat around a boardroom and felt good about it one day. We did it because we asked the people that we are set to help, what do they need? And when they tell us what they need, then we try to create the programs to take care of that for them. Our job at the foundation is not to replace anything that is part of the neurology community. Our job is to help bring it together, to connect it, to convene it, to help it share information rapidly and get the care to the patient and the care experience to the patient and their family that they deserve. We don't work alone. We work with over 200 patient organizations as well as thousands of families and providers to make this happen because the only way it will work is if we work together. We have several areas that we focus on. Family and child support is an area where we look to improve the patient care experiences through both direct engagement with those families that need the care as well as social services and partnerships with other professionals and advocacy groups. Education, we provide clarity for families and for providers about these diagnoses with a system of trustworthy information. If you haven't utilized our disorders directory, it's one of the greatest things on the website for families to refer to to find very trustworthy information about their conditions. And then we look to support research and care advancement. And the types of research and care advancement we are supporting are things that really look at how do we improve the care, the efficiency of care, the way it is done in the clinic. Think of us as the GPS system. Wherever you are, we will find you. And when we find you, we will find out where you need to go. And when we find out where you need to go, we will help you get there. So let's talk about the importance of today's topic. As I said, we don't do things just because it feels right to us. We do it because we're told by the people that we serve that this is what they need. So in our needs assessment survey in 2022, which included over 1,500 responses from 48 states, from families, as well as 150 responses over 30 states from neurologists, we got an idea that this program was needed today. Among families, 40% indicated that they did not know the reason for their child's epilepsy. Of those 40%, a third of them had not had any type of genetic testing, maybe had not talked about that. Among child neurologists, 20% say their patients don't have a cause. And 88% at least indicate that they've talked about the idea of genetic testing. When we think about some of the genetic testing, there is some differences between how families and physicians think about things and consider it. When we think of something like a whole genome, among clinicians, 37% say they believe it won't give a diagnosis and it won't change treatment. 10% of families believe that won't happen. Families are more concerned about whether it will be paid for, be covered. 60% are concerned that it won't be covered. You see a quote there down at the bottom, which is one that I find a bit disheartening, which is when families say, we don't need to do anything else because we already have a diagnosis, it's epilepsy. I mean, I think it's great that someone used the word and gave them the diagnosis epilepsy, but that's not the end of the road. That's not the full answer. Among those we surveyed, 70% of those that had a diagnosis, had genetic testing, and 42% had gotten their diagnosis through whole exome, 30% had gotten it through whole genome. Here on this slide, when we asked for what pediatric patients would you consider getting whole genome testing, 41% said they would think about it for all patients, 23% for only those with treatment-resistant epilepsy, 19% for those where they thought a possible treatment option would be available based on the result, and then 11% said they didn't think about it at all. I wanna focus for just a second on the 19% who said they would only think about genetic testing if there was a possible treatment option that would maybe change or be based on the results. And this is my personal opinion on this, but knowing what your disorder is and being able to connect with other people that have that disorder is treatment. Whether there is a medication for it or not, that is treatment, knowing who your community is. So 72% of the families without a diagnosis were interested in having genetic testing, but only 35% said they had talked to their neurologist about it. And one of the reasons for an event like ours today is that when they do talk to their neurologist about it, a third of them said their neurologist was unable to answer all the questions they had about the genetic testing. So it's clear we need to continue to work towards more education in utilizing this tool. Finally, in the last couple slides, 92% of the families believed that genetic testing would be helpful to them. 42% say that knowing a reason would be extremely helpful, and 90% of the neurologists agree that it would be helpful to seek out genetic diagnosis. And as I said earlier about knowing the disorder and knowing that that is a treatment, you see that reflected here. 78%, or 40% said that getting a diagnosis changed the treatment plan, but among families, 78% said it helped them connect with other families, organizations, and communities, and 97% said connecting to those groups was helpful. So that is the point. Among clinicians, the same. 31% said they were able to customize the treatment plan when they had that diagnosis, and 60% said that allowed them, if nothing else, to connect the families to disease-specific connections that were important to them. And again, that's a role at the foundation that we can play, to help connect these families to their communities. So there are many dilemmas for medical professionals in epilepsy that we grapple with when we are conducting genetic testing. When an opportunity to do testing is identified, so many more questions will arise, and families and clinicians will need to effectively communicate that genetic testing. And so today, in today's program, we hope you take home the tools so that we can all do this this much better. I'll close with these last couple things. Number one, CNF, as I said, is here to help. Our job is not to replace anyone in this room. Our job is to help everyone in this room do their job better. And we will ask you what it is we need to do to help you. So please, when we send out that needs assessment and you answer it, let us know the direction that we need to go. Some of the things you can find, you've got the QR code at your table that Paul mentioned before. There are caregiver webinars on our site. There are one-page handouts about genetic testing. There are epilepsy education hubs and other great information, like the disease or disorder directory that you can refer your patients to for information about their conditions.

genetic testing

patient perspectives

neurological care

family support

interactive sessions