Resources for Dravet Syndrome and LGS

Joseph E. Sullivan, MD: To come full circle, we are lucky to have Mary Anne and Tracy who are now 2 moms of young adults with developmental epileptic encephalopathy and yet you have somehow found the time and energy to form an advocacy group of patients and this has been a testament to you and other patient advocacy groups that has allowed Kelly and me and our colleagues to work as a team and have the opportunity to participate in these clinical trials and to participate in different conferences where we meet the families and meet other colleagues, so thank you for that. Kelly, I’m curious about this wealth of resources that we have just with these 2 advocacy groups in our presence today, how else would you tell your patients what other resources there are beyond your own institution?

Kelly Knupp, MD: It sometimes depends on the diagnosis. For a patient with Dravet Syndrome I will share as many Dravet resources as possible and for someone with Lennox-Gastaut I will share those resources. For someone who has a new diagnosis, especially if it’s rare and we haven’t been able to find them a family support group, one of the first things our genetic counselors do is find out if there is a family support group for this diagnosis and provide this information. If it’s not available, I encourage families to reach out to their epilepsy communities and try to identify who else may have this diagnosis, because if it’s so rare that I only see one patient, I won’t know what is common through this. From an academic point of view, when there are 30 patients with a diagnosis, only the first 2 are published in the literature and unless someone coordinates this whole group to obtain information on the 30 of them , we don’t even know if there are 30 people out there with that diagnosis. I probably don’t do social media like you guys now, but my research and academic literature is at a bit of a disadvantage outside of those early case reports, and I find that families with their motivation are able to find families quickly around the world who have this diagnosis and I encourage them to do so because these families talk to each other and no one knows your children better than you. I may ask standard questions about your seizures, your gait and your constipation, but when families come together they talk about the nuances that we may not think about in the clinic and they identify the common nuances in their children and I find this amazing resource both for families and for me when they come back and say i have spoken to 10 families and 8 of them are on lamotrigine, maybe we should give it a try. I’m like I’m in, let’s talk about side effects and we’ll find out. As you said earlier, it takes a village and we have to learn from each other, and we have to be open to that as well.

Joseph E. Sullivan, MD: Absolutely.

Kelly Knupp, MD: There are resources that are fairly standard resources. NIH [National Institutes of Health] has pages on rare diseases. NORTH [National Organization for Rare Disorders, Inc.] contains information on rare diseases. The Epilepsy Foundation often has good resources, but for some of the super rare disorders it may not yet be as organized and may not have as many clear resources available.

Joseph E. Sullivan, MD: I’m curious if we have a patient with LGS or with Dravet, Tracy and Mary Anne, and we just give the link to the website. What does this typical process look like for a new patient? I mean we have different levels of mastery of technology. Some people may be overwhelmed by the website. I’m not on social media either, Kelly, I understand it’s easy. I do not know. What does it look like on the foundation side when you have a flurry of new families coming in?

Marie-Anne Meskis: I would say our LGS foundation is probably similar in that we’ve worked hard to make sure we have lots of resources available for families, educational videos, or other in-person opportunities, but the most important thing about which the two groups count are the support groups. Just like Kelly said, there’s nothing quite like having another family who’s come this far and can offer advice or answer a question you have. We’ve also found that it’s important to try to divide these opportunities in different ways. We have families who are simply not comfortable traveling due to their child’s current medical condition or who are afraid of traveling too far from their hospital, so we try to give them a variety of ways to get the information they need to provide the best medical care for their child without making them feel overwhelmed.

Tracy Dixon-Salazar, PhD: It’s the same for us and we have similar programs in some ways at the Dravet Syndrome Foundation. For us, it’s about connecting a family with a regional ambassador or patient navigator. Our ambassadors are in specific regions. We have 50 ambassadors in 7 different countries around the world and it’s more about answering questions like who do you see in our community, how do you navigate Social Security, what do you do with IEPs in this region. Then we have browsers that are like I’m considering this treatment. I deal with this specific issue, so it’s a very current connection that we make in addition to our support groups. We always say simply because we’re on the same journey and LGS overlaps all DEEs because virtually every ideology you can think of that causes DEE, a subset of them seem to evolve into LGS. I think there’s not one DEE that’s probably the best known, but there’s not one DEE where all patients get LGS. We seem to be a final point, a final common path or maybe not even final but a common path for many of them. We always just say, look, we’re divided on science. The science is going to be different. I can’t pay attention to the 150+ DEE genes and spend my time on those because that’s just a subset of our larger LGS and we’re here focusing on the end-stage LGS the kind of one that becomes a path, but you’re welcome to our programs because we’re on the same path. We navigate school issues, community issues, we navigate the same medical systems, we see the same doctors, we go through the same treatments, we go to clinical trials together, we go to the same conferences, so we try to be as inclusive as possible. We also try to make sure that when people come into our group now, you face frequent unsolvable crises. This is not the place to send a newly diagnosed DEE patient; our community is not the place. You don’t talk about LGS with IS patients until you have to because it’s a very devastated population, but we try to be inclusive, and you can learn from those other groups. Even if you’re like LGS, you can come in and be part of our community and learn and be supported.

Joseph E. Sullivan, MD: Dravet Syndrome Foundation as well as Mary Anne, right? I mean we try to include SCN1A epilepsies because there is some overlap there.

Transcript edited for clarity

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