[00:00:03] I'm Effie Parks. Welcome to Once Upon A Gene, the podcast. This is a place I created for us to connect and share the stories of our not-so-typical lives. Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can hear the triumphs and challenges from others who get it, we can find a lot more laughter, a lot more hope, and feel a lot less alone.

[00:00:31] I believe there are some magical healing powers that can happen for all of us through sharing our stories, and I'll take all the help I can get.

[00:00:43] Before we dive into this special episode, I want to acknowledge that this was recorded at a conference, so you might hear some background noise from the food service and the busy atmosphere.

[00:00:54] I do hope that you'll give it a listen anyway because the wisdom and heartfelt stories shared by these Dravet families are truly beautiful and profound.

[00:01:03] Thank you so much for your understanding, and I promise the insights and connection in this episode are so worth it.

[00:01:10] Hello and welcome to a special episode for Epilepsy Awareness Month, where we step into the lives of families who face Dravet Syndrome, a relentless and rare form of epilepsy that demands strength.

[00:01:23] This summer I had the opportunity to attend the conference, a gathering of families who know what it's like to carry the weight of epilepsy every single day.

[00:01:32] I sat down with parents and caregivers who opened up about the intense highs and lows, the sleepless nights, the unstoppable love, and the fierce hope that comes from walking this path.

[00:01:44] There is one moment I will never forget, and I think it'll stay with me forever.

[00:01:49] Every year at the conference, families come together for a butterfly release.

[00:01:53] A beautiful and heartbreaking ritual to honor the children who have lost their battle with Dravet.

[00:01:59] As those butterflies took flight, it felt like we were releasing pieces of ourselves with them.

[00:02:04] It was this bittersweet moment of letting go and holding on at the same time.

[00:02:09] It reminded me of how grief and joy sit side by side in our hearts, as painful as it is powerful.

[00:02:17] So this episode is for every one of you out there who knows what it's like to wake up each day, even when it feels impossible.

[00:02:24] This journey is heavy, and it's beautiful, and it's something no one should have to walk alone.

[00:02:31] I hope that today's stories, the resilience, the love, and the moments of joy despite everything resonate with you.

[00:02:39] Whether you're in the middle of this battle, or loving someone who is.

[00:02:43] Hi, can you please introduce yourself and your warrior?

[00:02:46] I am Erin Rioyo.

[00:02:48] I'm the Dravet Syndrome Foundation Family Network Liaison, and I am mom to 10-year-old Leonel.

[00:02:54] This year, Dravet Syndrome Foundation celebrates its 15th anniversary.

[00:02:58] What message do you have for DSF?

[00:03:00] It's hard to say more than just thank you.

[00:03:03] Thank you for everything that you have done in the last 15 years, really even in the last eight since Leonel's diagnosis.

[00:03:11] Thank you for everything that you've put together for our families.

[00:03:16] In one word, what does DSF mean to you?

[00:03:18] Community.

[00:03:19] What message do you have for a family who's newly diagnosed?

[00:03:23] Just keep going.

[00:03:24] It's not easy in the beginning by any means, but just keep going and connect with our community and find your people.

[00:03:34] What have you discovered about yourself, Erin, that you didn't expect?

[00:03:37] Oh, I think I'm pretty resilient.

[00:03:40] Just like my son, we can really get through just about anything.

[00:03:46] We've really battled some very, very hard times when he was younger, and we have just kept going.

[00:03:52] Perfect.

[00:03:54] Hi, please introduce yourself and your little warrior.

[00:03:57] So my name is Amy Lopez, and my son is Isaiah.

[00:04:01] He's 13 years old, living with Dravet Syndrome.

[00:04:04] This year, Dravet Syndrome Foundation celebrates its 15th anniversary.

[00:04:08] What message do you have for DSF?

[00:04:10] I just want to thank DSF for bringing me a whole other family, a whole other network of friends and moms and some dads that I can reach out to whenever I need.

[00:04:21] Even just a pick-me-up or some advice.

[00:04:24] Our website that we have, our support group, is amazing because you plug in any question that you have, and you're bound to get at least 20 answers.

[00:04:34] And sometimes they're all different because all our kids respond to things differently.

[00:04:39] But just knowing people are out there and going through it with you and understand everything.

[00:04:43] So for me, the relationships that I've made are the best.

[00:04:49] But the research and the grants and everything they've done, it blows my mind that this whole foundation was started by a couple moms and that we are as big as we are, and they've done so much.

[00:04:59] In one word, what does DSF mean to you?

[00:05:02] Love.

[00:05:03] What have you discovered about yourself that you didn't expect?

[00:05:07] That I can do this, and that's going to make me emotional, but I can do this, and I'm doing it.

[00:05:11] And I'm not doing it by myself.

[00:05:13] What do you wish you would have known sooner?

[00:05:15] That's a tricky one because if you always say that to yourself, you're beating yourself up and you're not giving yourself grace.

[00:05:22] So in the past, my son just turned 13 last month, so I'd say in the past 12, 13 years, I've had to constantly tell myself that.

[00:05:32] It's okay.

[00:05:33] I'm learning.

[00:05:34] I don't have to beat myself up if I didn't know that sooner.

[00:05:38] I know now I'll put it in my toolbox, and I'll use it for the future.

[00:05:42] What message do you have for a family with a newly diagnosed child?

[00:05:45] Reach out to us.

[00:05:47] It's the first thing I did when I found out my son had Dravet.

[00:05:50] I looked and searched for families local to me, and I just asked them questions.

[00:05:56] You're not going to get any better resources than families themselves who have gone through it.

[00:06:00] And I'm a network ambassador now for the Dravet Foundation, and I'm doing that because I got that from Dravet families when we first started.

[00:06:09] And that's the hardest time is when you're newly diagnosed and you need other families who get it and can help you through it.

[00:06:15] So that's why I'm trying to give back now and do the same thing.

[00:06:18] Please introduce yourself and your warrior.

[00:06:20] Okay.

[00:06:21] I am Morgan Turpin.

[00:06:23] I'm from San Diego, California, and I am the mother to Shane Turpin, who is 12 years old and has Dravet syndrome.

[00:06:31] In one word, what does DSF mean to you?

[00:06:33] The best word I can use to describe DSF is community.

[00:06:37] I will admit I was one of the people that was in, I would say, denial is probably the best way to put it, in the beginning of our journey.

[00:06:47] I was very afraid of the future, and I was really hesitant to pursue community because I was terrified of what was going to happen over time with my child.

[00:07:03] And honestly, that's one of the regrets that I have is that I took a long time to be proactive and take the initiative to sign up for the Facebook group and to connect with other families.

[00:07:16] And once I finally pushed myself to do it, I can't explain the magnitude of interacting with other parents who understand what you're going through.

[00:07:28] And, you know, we were still earlier on in the diagnosis and being able to swap stories and relate so much to what these other parents and their children have gone through.

[00:07:41] It was, it leaves me speechless.

[00:07:45] I hardly have words to describe that experience.

[00:07:47] So to me, that's what DSF is.

[00:07:50] It's my community.

[00:07:51] It's family.

[00:07:53] It feels coming to this conference.

[00:07:55] It feels like coming home.

[00:07:56] It feels like a reunion.

[00:07:58] How do you advocate?

[00:07:59] So I am a parent ambassador for the Dravet syndrome foundation.

[00:08:03] I represent the West Coast region.

[00:08:05] I've done a lot of advocating via social media.

[00:08:09] I've written some posts for the Mighty.

[00:08:13] I've also worked with several pharmaceutical partners and written Dravet syndrome awareness posts over the years.

[00:08:21] I also have an Instagram page for my son.

[00:08:24] And I try to share a lot of our day-to-day life on there.

[00:08:29] I think it's important to share the good, the bad, and the ugly.

[00:08:33] And I've had so many families reach out to me and say, you know, seeing what you guys share and the things that you guys do in your life, it gives me hope that I feel like right now we wouldn't be able to do those things.

[00:08:51] But it gives me hope that we will get to that place when we're able to travel and go to Disneyland and interact with other Dravet families.

[00:08:59] And that is more meaningful to me than I think anything else.

[00:09:04] So my biggest goal in advocacy besides spreading awareness is just to connect with other families.

[00:09:12] I met a mom.

[00:09:13] I went to a fundraiser last year in Philadelphia, and I had talked with her for several years on Instagram and kind of gotten to know her and her daughter.

[00:09:22] And at the fundraiser, she gave a speech and she warned me.

[00:09:26] She said, I'm going to mention you in the speech.

[00:09:28] And I said, OK, I'll be ready.

[00:09:29] I'm sure I'm going to cry.

[00:09:30] And she said that I was the first Dravet parent that she ever talked to.

[00:09:35] And I didn't realize that.

[00:09:38] And just to hear her express how meaningful that was to her.

[00:09:44] And I understand because I remember the first Dravet parent that I ever talked to as well.

[00:09:49] It's just it's just hard to describe.

[00:09:51] And I feel like as hard as it is sometimes to advocate, you feel repetitive.

[00:09:57] You feel like a broken record.

[00:09:59] You're seeing the same thing.

[00:10:00] There's no cure.

[00:10:01] This is what we're dealing with.

[00:10:02] To have just one connection like that, it makes it all worth it.

[00:10:08] What have you discovered about yourself that you didn't expect?

[00:10:10] That's a big one.

[00:10:12] I honestly feel like my personality has changed since my son was diagnosed.

[00:10:18] In some ways, I feel like a completely different person.

[00:10:22] I've learned that my instincts are often correct.

[00:10:27] I've learned to trust myself.

[00:10:29] I've learned that just because someone who has more training and more degrees and more letters behind their name feels that maybe the situation is in a certain way.

[00:10:41] I know my child best.

[00:10:44] I'm the expert.

[00:10:45] I live with him every single day.

[00:10:47] I know when things aren't right.

[00:10:48] And I've come into finding my own, into feeling comfortable expressing that and standing up for him and advocating.

[00:10:57] And if you would have told me before I had kids that I was going to be doing that, I would have not believed you.

[00:11:04] What message do you have for families with a newly diagnosed child?

[00:11:07] The biggest thing I think I can say based off of my own experience is follow other families.

[00:11:16] If you feel comfortable, send a message.

[00:11:19] Reach out.

[00:11:21] The main group is a lot.

[00:11:23] I understand that.

[00:11:25] If you can find sort of through the main group, if you can find your parent ambassador or a regional person that you can reach out to more one-on-one.

[00:11:34] I think those connections are so invaluable.

[00:11:38] And I think anyone here would agree with that.

[00:11:41] Our stories aren't all the same, but there's so many shared similarities.

[00:11:46] And as we know from interacting with people outside the community, it's very different.

[00:11:53] When you're interacting with someone in the community, you don't have to provide context.

[00:11:57] You can just be yourself.

[00:11:59] You can say sometimes dark and really hard things without judgment.

[00:12:04] They understand.

[00:12:05] They've probably been there.

[00:12:07] They've probably had similar thoughts to your own.

[00:12:09] You know, we've watched our kids go to the brink of death.

[00:12:13] And that's not something that most people can understand.

[00:12:17] And yet we're still here smiling and we're still, you know, doing the damn thing.

[00:12:23] And so I think the best advice I can give is to just find that community because that's what's going to keep you going.

[00:12:32] We've learned more from other parents over the years as far as how to access resources or different options for treatments or different providers to see.

[00:12:43] We've learned more from just connecting with other parents than we have from any other single resource.

[00:12:50] What do you wish you would have known sooner?

[00:12:52] Well, I wish I would have known he had diabetes.

[00:12:56] He was put on a medication that ended up sending him to the ICU.

[00:13:00] And so it would have been nice to know that sooner.

[00:13:04] I wish I would have known sooner how to trust myself and how to trust my instincts.

[00:13:12] It took me a while to develop that.

[00:13:15] It's not my personality to challenge authority or to speak up, especially in a medical setting.

[00:13:23] I didn't have experience with a complex disease that doesn't follow a standard path of here's a medication.

[00:13:31] This will fix it.

[00:13:32] Go live your life.

[00:13:33] I didn't have any experience with that.

[00:13:36] And I didn't understand what it meant to push for a second, a third, a fourth opinion or just when they say, you know, well, this doesn't normally happen to know that sometimes for my kid it does happen.

[00:13:50] And he can be the exception to that.

[00:13:52] So I think I wish I wish I would have understood that I had it within me all along, that I just needed to understand how to how to pull it out and how to access it.

[00:14:04] And, you know, in some ways, I'm sad that this is how I had to learn that skill with my child having to suffer.

[00:14:12] But I am grateful that it has made me into the person who's able to do that now.

[00:14:20] Please introduce yourself and your warrior.

[00:14:23] My name is Brian Wilson.

[00:14:25] My warrior's name is Vivian Wilson.

[00:14:27] We used to live in New Jersey, but now we live in Denver, Colorado.

[00:14:31] This year, Jervais Syndrome Foundation celebrates its 15th anniversary.

[00:14:35] What message do you have for DSF?

[00:14:38] The message that I have for DSF is thank you very much for everything you've been doing because a lot of your direct actions we've benefited personally and Vivian has directly benefited from even a lot of the research grants that have gone out to help get better medicines to give her a better life.

[00:14:53] In one word, what does DSF mean to you?

[00:14:56] Hope.

[00:14:56] How do you advocate?

[00:14:58] We advocate by making sure everybody who interacts with Vivian understands not just that she has special needs, but what the name Jervais Syndrome.

[00:15:06] We keep active in the Jervais community and help promote anything that they're putting out.

[00:15:12] And I'm currently also now a parent ambassador for the next two years for Jervais Syndrome to help get the word out and help get support for other families.

[00:15:20] What are you most looking forward to at this year's conference?

[00:15:22] I'm most looking forward to actually today. Today is one of the best days because this is when all the doctors come up.

[00:15:28] My wife and I both like all the scientific stuff to hear about what new studies are going on, what new treatments are happening.

[00:15:35] So we're really interested in this part.

[00:15:37] But the other thing we really like doing is interacting with the other families because back at home, we're not too connected to families except for virtually.

[00:15:45] So to see people in person and get to meet them and especially their kids, all the kids are so wonderful and you forget how similar they are.

[00:15:53] Like they're just so full of love.

[00:15:55] You come up to say hi, they give you smiles, they give you hugs.

[00:15:57] It's just absolutely amazing.

[00:15:59] What have you discovered about yourself that you didn't expect?

[00:16:02] Oh, brother, I can go on and on if I thought about it.

[00:16:06] But the biggest thing is the resilience, the ability to find yourself in a dark place and find your way out by deciding you're going to take this opportunity to learn and keep growing from it and nonstop keep growing.

[00:16:23] I was not to get silly here.

[00:16:26] I was like the third child, the last child, right?

[00:16:29] The baby of the family.

[00:16:30] So in a way, you get spoiled by a lot of things, right?

[00:16:34] And this really forced me to step up and really take a lot more responsibility for what was going on in that situation and to own it and to learn and grow as much as I possibly could.

[00:16:48] A lot further than I ever thought I would have to in life.

[00:16:50] What do you wish you would have known sooner?

[00:16:52] Good question.

[00:16:53] Initially, we wish we would have known that certain medicines in those early phases were terrible for Vivian.

[00:17:01] This was before DSF really got off the ground much.

[00:17:04] There was not as much education.

[00:17:05] This was around 2011.

[00:17:08] That, I think, is a great advantage for people coming in now, especially with not only the newer medications, but the knowledge that neurologists have of what not to give in these situations.

[00:17:17] But the other thing I wish I knew was that it would get better and it would get easier.

[00:17:23] Because in those early days, especially, it's extremely difficult and extremely hard.

[00:17:28] And you don't know no matter what people tell you.

[00:17:32] And we didn't have many people telling us back then.

[00:17:35] But no matter what, you just don't see the other side of it.

[00:17:37] And it seems to be the pattern that as your child grows, it gets easier.

[00:17:43] At least the seizure side.

[00:17:45] Behavior is a whole different question.

[00:17:46] But, you know, life becomes easier.

[00:17:49] You do get adjusted.

[00:17:50] You do adapt.

[00:17:51] But you have to make that effort to do that adjustment and adapting to it in order for that to be successful.

[00:17:56] What advice would you give to a newly diagnosed family?

[00:17:59] The advice I'd give would be, number one, definitely use the community.

[00:18:03] Reach out to DSF, not only for the support features they offer, but also just to the general community.

[00:18:09] Everyone's been through.

[00:18:10] Everyone before you has been through exactly what you're going through.

[00:18:13] Has had the same concerns, troubles.

[00:18:15] Even, you know, really tough conversations with their spouses.

[00:18:19] You know, when you're in such a dire position, when you're seeing your child stop breathing from too much rescue med and too much seizure activity,

[00:18:29] that spawns other conversations that most normal people don't have.

[00:18:33] And to hear other people have had those conversations, it feels like it makes you help to feel that you can have those thoughts.

[00:18:40] You can have those conversations.

[00:18:43] And really, the best thing is be open, again, as I said before, to learning everything you can from those situations you're in.

[00:18:52] Your life is not going to be the same.

[00:18:54] Accept that as quickly as you can.

[00:18:56] It's going to be a hard adjustment, but accept that as quickly as you can and just take life where it takes you.

[00:19:02] Please introduce yourself and your warrior.

[00:19:04] My name is Alan Golic.

[00:19:06] I have a 20-year-old warrior.

[00:19:08] Her name is Abigail, and she is functional at a 5 to 8-year-old age level developmentally.

[00:19:18] Although she is 20, she needs full assistance to whether she walks or full care or assistance.

[00:19:26] I'm a solo dad with that, so as part of that, I had to leave my career back in 2018.

[00:19:33] This year, Gervais Syndrome Foundation celebrates its 15th anniversary.

[00:19:38] What message do you have for DSF?

[00:19:41] I'm extremely grateful for all the research, all the funding they have provided.

[00:19:49] As I'm sitting here, I'm just hearing how over the last 20 years, the information is just so much more.

[00:19:57] We were given such vague terms 20 years ago.

[00:20:01] Now we're getting specific.

[00:20:03] We're not only getting more specific, but we're getting more accurate information, and I'm just eternally grateful.

[00:20:10] Not only that, it's become a family now.

[00:20:13] In one word, what does DSF mean to you?

[00:20:16] Hope.

[00:20:17] What have you discovered about yourself that you didn't expect?

[00:20:20] When we have a child, you have your children, you have a set of dreams and aspirations for them.

[00:20:27] I have another daughter who, even though she's five years older than her sister, sometimes she can be just as challenging.

[00:20:35] You raise these children and you go, okay, I made it through the first experiment.

[00:20:40] I'm ready for another child.

[00:20:41] And I hope that I am, and you're like, okay, I've got this down.

[00:20:49] I know I can handle this.

[00:20:50] And then when you have a child with special needs, you have to find something in you that will just make you get up days you don't want to get up.

[00:21:00] You find yourself looking for that place where you can just let off the emotion that you need to for that moment.

[00:21:09] But you find a way to do it because ultimately you're doing it for your own children.

[00:21:14] What do you wish you would have known sooner?

[00:21:17] My daughter was 15 years old when she was officially diagnosed with Dravet.

[00:21:22] She has one of the, she has a GABRA1 mutation, which is not the typical mutation.

[00:21:32] So we didn't get that diagnosis until she was 15.

[00:21:35] So I've only been working with the Dravet diagnosis for five years.

[00:21:39] So it's been eye-opening for us.

[00:21:42] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[00:21:48] I have been doing this, the best way to say it is I've been doing this for 20 years.

[00:21:54] Literally the medications are changing so rapidly.

[00:22:00] I was just listening to a physician and when my daughter started this whole thing, we were giving, told not to give diastat until she had been actively seizing for at least 10 minutes.

[00:22:13] Now they're saying you can give it as soon as the seizure starts.

[00:22:17] There's a total, the technology, the research is so much different.

[00:22:21] And beyond just that medical part, I am finally meeting people that have Dravet warriors.

[00:22:30] And we're all finding out our stories are similar.

[00:22:33] And I'm learning from the people that are older than me, kind of giving me a clue of what's coming up or how to handle situations.

[00:22:41] And the ones that are younger, I'm not only able to share that information, but to realize that all those years of not knowing, we weren't losing it.

[00:22:49] This was really happening in our lives.

[00:22:51] What advice would you give to a family with a newly diagnosed child?

[00:22:56] You need to take care of yourself.

[00:22:59] The old adage of if the airplane mass drops, put it on yourself.

[00:23:04] And then I have been a solo dad for seven years.

[00:23:12] I had to leave a wife that I still love.

[00:23:18] But after 20 years of marriage, this cost me my marriage.

[00:23:21] And my daughters being having their mom every day in their life.

[00:23:26] And the biggest problem with that, to be honest, is caregiver burnout.

[00:23:31] And if I could do anything different, that would be then.

[00:23:35] Is there a thank you note or a shout out that you have for someone?

[00:23:39] How do I just say one?

[00:23:40] For Abigail's care, we've lived in seven states.

[00:23:45] I have just milked hundreds of people that have touched us and physicians, therapists.

[00:23:53] I could not say one.

[00:23:55] It's the medical community.

[00:23:57] When the medical community works right, it just works right.

[00:24:01] Please introduce yourself and your warrior.

[00:24:04] I am Adam Capps.

[00:24:06] I'm married to Casey Capps.

[00:24:07] She's a parent ambassador for Gervais syndrome.

[00:24:09] We have three kids, Ben, Will, and Charlotte.

[00:24:13] William is the warrior.

[00:24:16] He's six years old.

[00:24:17] He got his diagnosis, I believe, around two months of age.

[00:24:22] He had his first seizure at two months of age.

[00:24:25] And we had her diagnosis around six.

[00:24:29] This year, Gervais syndrome foundation celebrates its 15th anniversary.

[00:24:33] What message do you have for DSF?

[00:24:36] Definitely.

[00:24:36] Well, thank you.

[00:24:37] The fundraising that they've done, like Dr. Olag, he is amazing.

[00:24:43] I had never seen the figure of how much money he's raised in basically the same amount of time that Will's had Gervais syndrome.

[00:24:50] It's up around, I think, north of $2 million, which is incredible.

[00:24:56] And we're from the St. Louis area, so he does the dance for Gervais every year.

[00:25:00] And we were able to be guests on that, guests twice.

[00:25:05] And it's an incredible event.

[00:25:07] How do you advocate?

[00:25:08] I advocate on a little smaller scale than my wife.

[00:25:12] Like I said, she's a parent ambassador, but I do like to tell Will's story to the people that I work with and people that haven't encountered epilepsy, which is a lot.

[00:25:22] It's a lot of people that, like before Will, I had never seen anyone have a seizure.

[00:25:29] Now, I don't know that there's a seizure type that I haven't seen.

[00:25:31] And so, yeah, it's just amazing how much has changed our life and how much I have personally learned about epilepsy.

[00:25:43] Stuff that I never thought about.

[00:25:46] What do you wish you would have known sooner?

[00:25:48] Just today we learned about the T1, T2, when to intervene and when brain damage might occur in rescue for prolonged seizures.

[00:26:01] I don't know that there's anything we could have done different, and I don't know if that knowledge would have helped necessarily.

[00:26:06] But knowing that brain damage can occur around 30 minutes in would have been nice to know.

[00:26:15] I don't know that it would have changed our course of treatment at all, but I don't know, it might have made it worse even.

[00:26:21] Or made the emotional impact worse.

[00:26:24] So, I don't know, that's a tough question.

[00:26:27] What have you discovered about yourself that you didn't expect?

[00:26:30] I suppose a level of resiliency.

[00:26:33] I think it's made easier whenever you consider the challenges that Will goes through.

[00:26:41] I think it's added a level of, I don't know if it's a great word, but grit.

[00:26:50] It's mundane things.

[00:26:51] Like, I'm in the military, so I have a PT test.

[00:26:54] So, I'm running my PT test, and my heart rate's up.

[00:26:57] I'm exhausted.

[00:26:58] I'm thinking, well, Will could have a seizure for three hours.

[00:27:03] That can last 12 minutes.

[00:27:05] So, say your resiliency.

[00:27:07] What advice would you give to a new family whose child was just diagnosed?

[00:27:11] Don't Google it right away.

[00:27:14] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[00:27:19] Connections.

[00:27:20] So, just walking out the door there, we've got Mr. Erickson.

[00:27:24] We met him at the Epilepsy Awareness Day at Disneyland.

[00:27:27] We were able to attend that.

[00:27:28] As a dad, you don't really run into many opportunities to connect with people or the support system.

[00:27:35] I don't know that it's as good as it is for the moms.

[00:27:41] So, I don't know.

[00:27:42] I guess a lot of us are a little apprehensive to reach out and make those connections.

[00:27:47] So, being able to attend stuff like this, you are kind of forced into meeting other families and other dads, specifically for me.

[00:27:55] Is there a shout-out or a thank-you note that you'd like to send to anyone?

[00:28:01] Well, I guess to my wife, if I had to pick one.

[00:28:05] She's been really excellent through all this.

[00:28:09] Doing the research, getting involved in the community, seeking out opportunities to advocate.

[00:28:17] We do a 5K in our town now for DSF.

[00:28:21] And last year, we were able to raise $10,000.

[00:28:25] So, she's been incredible.

[00:28:30] Please introduce yourself and your warrior.

[00:28:32] Hi, my name is Casey Capps, and my warrior is Will, and he is 6 years old and our middle child.

[00:28:39] This year, the Gervais Syndrome Foundation celebrates its 15th anniversary.

[00:28:43] What message do you have for DSF?

[00:28:45] A great big thank you, because without them, I don't know where I would be.

[00:28:52] When we first got our diagnosis, the first thing I did was Google Gervais Syndrome, and you get words like catastrophic and all these horrible, triggering words.

[00:29:01] And then you come across the Gervais Syndrome Foundation and a group of people who have been fighting the fight and raising funds so that my son, who is only 6 years old, has more options that their children didn't have.

[00:29:15] And now that has became my goal where, you know, things coming up in the pipeline, it makes me sad that they're not available to will.

[00:29:22] But holy cow, like for the little ones to have that chance for medicines and different opportunities that we didn't have just to see it grow so much.

[00:29:33] And it is all thanks to Marianne and all of DSF to have the funds to do that research and hopefully find that cure, maybe not for my son, but maybe for the next group of Gervais kids.

[00:29:44] How do you advocate?

[00:29:46] So I put on a 5K every year for Will.

[00:29:51] We have a great turnout.

[00:29:52] It's a small town, so Will's kind of like a celebrity.

[00:29:56] Everybody loves to come and see him, and he gives hugs.

[00:29:59] I also have a Facebook page.

[00:30:03] It's called Warrior Will, Our Journey with Gervais.

[00:30:05] And I post on there frequently.

[00:30:07] I post videos of seizures because before Will, I had never seen a seizure.

[00:30:11] I had no idea what one even looked like.

[00:30:13] And I feel like putting that out there is one of the only things that I can do.

[00:30:18] You know, I can't find a cure myself.

[00:30:20] I can't do research myself.

[00:30:21] But I can put Will's story out there and inspire people, help the next family, give them some sort of footing to look at.

[00:30:31] I know I had a family that actually lives about only 20 minutes from me, and their son got diagnosed.

[00:30:37] And somebody was like, you should follow Casey Capps.

[00:30:39] She's put this all out there.

[00:30:41] And if I hadn't done that, she would have felt so alone.

[00:30:43] And that's my whole goal is that nobody fights this alone.

[00:30:47] What are you most looking forward to at this year's conference?

[00:30:50] I'm looking forward to being with my friends.

[00:30:53] We're a fun little group.

[00:30:55] Every two years when we get together, a small group of us goes and gets a tattoo.

[00:30:59] It's always Gervais themed.

[00:31:02] And just being with the other families and being with, you know, it's so easy.

[00:31:08] I'm a kindergarten teacher, and I'm around typical six-year-olds all day long.

[00:31:13] And then I have my son who is around 18 months cognitively.

[00:31:19] So, you know, I work with typical children all day, and I come home.

[00:31:24] And it's hard not to think about how it should have been or could have been.

[00:31:30] But then I come here, and there's all these people who understand and understand that grieving,

[00:31:35] but also that hope that things are going to get better.

[00:31:39] And they are just there.

[00:31:41] You have to find your village.

[00:31:42] And this is what I look forward to every two years is getting to get together with my village.

[00:31:48] What do you wish you would have known sooner?

[00:31:50] I wish I would have known sooner that every child is different.

[00:31:55] In our Facebook group, you'll see, you know, a mom or a dad put out that this one drug worked miracles for them,

[00:32:02] and they haven't had a seizure in six months.

[00:32:04] And I'll be like, oh, awesome.

[00:32:05] And I'll bring it to our epileptologist, and we'll put Will on it, and it doesn't work for him.

[00:32:10] And in the beginning, that was so heartbreaking and disheartening and feeling like we were just grasping for anything.

[00:32:18] Until we learned that it is so common in this community that every child is so different.

[00:32:24] There's such a huge spectrum.

[00:32:26] And what works for the person who posted in the Facebook group might not work for Will,

[00:32:30] and that's okay because something might work for him that might not work for another kid.

[00:32:35] And that's something that weighed heavy on me for a really long time

[00:32:38] and kind of had me lose a little bit of hope for a while.

[00:32:43] You try so many things, and they're not working, and they're working for other people.

[00:32:46] And if I would have known that that is typical and that every child is so unique,

[00:32:52] even with the same genetic mutation, that would have helped me a lot in the beginning.

[00:32:58] What have you discovered about yourself that you didn't expect?

[00:33:01] I am so much stronger than I thought I was.

[00:33:05] I have anxiety and depression.

[00:33:07] I had it before my son.

[00:33:10] So when Will started having seizures, it was really bad for a while.

[00:33:16] I was in a really, really dark place.

[00:33:20] And the longer that we went, I turned that grief into advocacy.

[00:33:28] I took care of myself.

[00:33:29] Medication is great if you need it.

[00:33:34] I just really had all of the seizures and all of the intubations and all of the doctor visits

[00:33:39] and still being a full-time teacher, doing all the things, going to the gym to work out those frustrations.

[00:33:46] There's just so many things that I never thought that I would be able to do

[00:33:50] and all these different things in my life that I thought, oh, this is going to be it.

[00:33:55] This is going to be what breaks me.

[00:33:57] And I'm still here and better than I ever been.

[00:34:00] And I'm looking forward to Will and I continuing to grow together.

[00:34:05] What advice do you have for a newly diagnosed family?

[00:34:09] My advice would be to take with a grain of salt what works for other families.

[00:34:17] Because like I said, it's really, really easy to get caught up in feeling hopeless that, oh, this worked for my child or their child,

[00:34:23] but it didn't work for my child.

[00:34:26] Really just keep hope.

[00:34:30] There's so many.

[00:34:31] Will has been on every drug out there for Dravet.

[00:34:33] And we are finally at kind of an okay place as far as Dravet goes.

[00:34:39] We're still having daily different types of seizures, but we're in a good place as far as Will goes.

[00:34:47] So my piece of advice would be to take everything with a grain of salt.

[00:34:52] Advice is great.

[00:34:53] Having that community is great and being able to bounce ideas off of each other.

[00:34:57] But just really, really know that what works for one family may not work for yours.

[00:35:03] And you've got to work and trial and error.

[00:35:05] And it stinks, but you get through it.

[00:35:07] And eventually you do find that combination or lifestyle that works for you.

[00:35:12] Do you have a thank you note or a shout out you'd like to make?

[00:35:16] I would love to thank my husband.

[00:35:20] I recently went back to teaching two years ago after being a stay-at-home mom.

[00:35:24] Because Will's seizures were out of control.

[00:35:27] So I was the primary caregiver until two years ago when I went back and my husband goes to all the doctor's appointments.

[00:35:34] Doctors are really surprised when dad walks in and not mom.

[00:35:38] But I love the advocacy that he is doing with going to all those appointments and taking off work and letting me kind of be the secondary caregiver for a little bit.

[00:35:50] And you just, you don't see dads take on that primary role so willingly and work through seizures with me and cry with me and be vulnerable with me.

[00:36:01] You hear a lot in special needs communities that it's either going to destroy your marriage or make it stronger.

[00:36:07] And ours has been made a lot stronger.

[00:36:11] It's still very hard.

[00:36:13] But we feel all those feelings together and it has definitely made us a stronger couple.

[00:36:21] Please introduce yourself and your warrior.

[00:36:23] Sure.

[00:36:23] My name is Austin Watson and my son Owen is 10 years old with Dravet syndrome.

[00:36:30] And what's your role with Dravet syndrome?

[00:36:32] So I started out my journey with Dravet syndrome when Owen had his first seizure at three months old.

[00:36:39] We went through a whole year of a diagnostic journey as we added extra seizures to our daily routine medications.

[00:36:48] And then at 13, I'm sorry, 10 months old, he developed a secondary seizure type.

[00:36:55] And it was at that point that our neurologist said, hey, we might have a problem.

[00:36:59] And so he brought us in on his day off where he saw no other patients except us and explained to us that I think your son has Dravet syndrome.

[00:37:08] So it was at that point we did a genetic test and it was discovered that Owen does have a de novo gene mutation on the SCM1A gene.

[00:37:18] And so we were officially diagnosed at 13 months old.

[00:37:22] Then we continued our journey where there happened to be an epilepsy summit in L.A.

[00:37:27] where we actually got to meet with Dr. Dravet just after that diagnosis, which was so powerful as we first met the community as well within the DSF Foundation.

[00:37:38] And some of the parents we met there literally changed the disease trajectory for us where we learned about medications we'd never heard of before.

[00:37:48] And we met these people that are still our friends and still share our stories and still walk with us.

[00:37:57] And so then we started fundraising as a family.

[00:38:02] And as a family, we've raised about $65,000, which is really rad.

[00:38:07] And then I became a parent ambassador back in 2021.

[00:38:13] And now Aaron Miyoyo is stepping out of the foundation and I get to step in as the family network coordinator for the foundation.

[00:38:23] What are you most looking forward to at this year's conference?

[00:38:26] I think one of my favorite things is connecting with the other families.

[00:38:33] And my role in the foundation is literally to build community and to build friendships and connections.

[00:38:42] As I oversee the family network ambassador program and the brand ambassador program for the foundation,

[00:38:49] I get the opportunity to connect on a very intimate and real level with so many different people from all over the world

[00:38:58] who are walking the same trails, who have the same challenges and forging new relationships with them and connecting them to others as well.

[00:39:09] What do you wish you would have known sooner?

[00:39:12] I think I wish I would have known sooner that I would learn more from my child than I would ever be able to teach them.

[00:39:25] When you have a child who is so developmentally complex, there is an innocence and a authentic way.

[00:39:38] They have no other way to be except authentic.

[00:39:41] And so I wish that I would have known that this child who is always going to see magic in everything, right?

[00:39:53] So Santa is always going to be magic.

[00:39:55] Easter Bunny is always going to be magic.

[00:39:57] And I wish I would have known that I would learn patience and hope and connectedness and the value of community sooner

[00:40:09] and leaned into that and leaned less into fear and leaned less into trying to find answers to questions that don't have answers.

[00:40:21] We used to always search for a trigger for the seizures.

[00:40:27] And it finally got to the point where we were exhausted looking for answers and there weren't any.

[00:40:35] And so we finally had to say, you know what?

[00:40:38] Seizures are going to seizure.

[00:40:40] Dravet is going to Dravet.

[00:40:41] Dravet is going to be a little bit of a trigger.

[00:40:42] And at some point, you just have to let it be, let it go and move forward.

[00:40:49] So that's definitely something I wish I would have known is how much I would learn from him as opposed to him learning from me.

[00:40:56] What have you discovered about yourself that you didn't expect?

[00:40:59] I have always had a profound sense of justice and equality and fairness, but I had never anticipated finding that fire within myself on a personal level in the way that I have.

[00:41:17] So I've learned how fierce of an advocate I can be.

[00:41:22] And I have learned that I'm okay questioning authority to be like, you know what, Dr. So-and-so, I'm not sure that that's the right path for us.

[00:41:32] And so I learned how brave I can be.

[00:41:36] I learned how strong I can be.

[00:41:43] I have an incredible partner that is incredibly supportive.

[00:41:48] And so I got to learn how he and I can move through this whole diagnosis and this journey together as a team.

[00:41:58] Just so, so much about myself.

[00:42:01] And above all, I think one of the biggest things I've learned is that self-care is not selfish and that I have value in taking care of myself as well as taking care of others.

[00:42:15] What message do you have for a family with a newly diagnosed child?

[00:42:21] First and foremost is that you are not alone.

[00:42:26] There is an entire community of people that while our stories and our paths and the terrain we walk looks a little bit different, it's all still very similar.

[00:42:39] And so many of us have stumbled or tripped over the same log that crosses that path that you're coming up to.

[00:42:46] And we will walk with you.

[00:42:49] And that's really special among our community.

[00:42:55] There's a level of love and connection that everyone is so willing to say, I'll help you carry your pack for a little while.

[00:43:04] And if I can't carry your pack, then I'll just walk beside you.

[00:43:09] And so to that newly diagnosed family, you are not alone.

[00:43:13] There is always hope.

[00:43:16] And we're here.

[00:43:17] Do you have a thank you note or a shout out?

[00:43:19] I have just so much gratitude.

[00:43:26] First and foremost for my husband, who's he's an incredible human that loves our children in a way that is truly magic to watch.

[00:43:42] And he affords me the opportunity to follow my dreams as well.

[00:43:46] So I want to just say a huge thank you to my husband, Stuart.

[00:43:53] We said when we first met that once a team, always a team.

[00:43:58] And we have always been that team.

[00:44:00] So thank you to him.

[00:44:03] And also, I want to say a huge thank you to the Trevay Syndrome Foundation for making sure that I never felt alone as a parent.

[00:44:11] And just to the community at large who's there and has literally saved my son's life and saved my spirits and my hope.

[00:44:21] And I just could not be more full of gratitude.

[00:44:26] Please introduce yourself and your warrior.

[00:44:28] My name is Sarah Reyes and my warrior is 10 years old and she is Hayden.

[00:44:35] This year, the Trevay Syndrome Foundation celebrates its 15th anniversary.

[00:44:38] What message do you have for DSF?

[00:44:41] My message for DSF is that I'm just so appreciative of all the research and everything that they've done that I feel has benefited our family beyond words.

[00:44:54] In one word, what does DSF mean to you?

[00:44:57] Joy.

[00:44:57] How do you advocate?

[00:44:59] I advocate for Hayden and Trevay Syndrome by telling friends and family everything there is to know about it.

[00:45:06] Telling them all about what Trevay is.

[00:45:09] Not only seizures, but also all the things that come along with it.

[00:45:14] What are you most looking forward to at this year's conference?

[00:45:17] I am most looking forward to meeting new families.

[00:45:20] I always talk to families on Facebook or social media and I never get to meet them in person.

[00:45:26] So it's really fun to actually be able to put a face with the name that you're conversing with on social media.

[00:45:32] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[00:45:37] I think it's so important to go to the conference just so that you can stay up to date on recent research and medications and things that will help your child in the future.

[00:45:50] What do you wish you would have known sooner?

[00:45:52] I wish that I would have known to trust the choices that I was making for Hayden and trust my gut because I feel like I always would second guess myself in the beginning because I didn't know a lot about Trevay.

[00:46:06] But now that we've been through all of this and experienced so many things, I realized that mother usually knows best and to always trust your gut because you know what's best for your child.

[00:46:19] What have you discovered about yourself that you didn't expect?

[00:46:23] I've discovered that I am more confident than I thought I was and that I can be more of a leader and that I can stand up for myself and for my family for things that I think are right.

[00:46:37] What message do you have for a family with a newly diagnosed child?

[00:46:42] A message I have for a family with a newly diagnosed child is trust your gut.

[00:46:47] You know your child more than anybody else does and you know what's best for your child.

[00:46:53] Do you have a thank you note or a shout out you'd like to make?

[00:46:56] Oh my goodness, a thank you note.

[00:46:59] Honestly, if I could thank anybody, it would probably be my immediate family and just all of the love and support that they've given.

[00:47:05] And constantly being there for my family and for Hayden with whatever we need through the ups, the downs.

[00:47:12] They're always there.

[00:47:13] Please introduce yourself and your warrior.

[00:47:16] Yes.

[00:47:16] So my name is Stuart Watson.

[00:47:18] I am the father of my Trevay warrior, Owen Watson.

[00:47:24] He is 10 years old and we live in Boise, Idaho.

[00:47:31] And we've been living with Trevay for just over 10 years.

[00:47:35] This year, Trevay Syndrome Foundation celebrates its 15th anniversary.

[00:47:39] What message do you have for DSF?

[00:47:41] Keep fighting the good fight.

[00:47:43] The information and support and just everything that they bring to this disease is so phenomenal to caregivers and parents, doctors, everybody.

[00:47:57] How do you advocate?

[00:47:59] Multiple ways.

[00:48:00] I support my wife.

[00:48:02] She is one of the staff members on DSF and helping her with activities, supporting her and her mission to further the Trevay Foundation.

[00:48:12] I also participate in fundraising.

[00:48:14] So previously, before COVID, our family was hosting a couple of fundraising events in Boise, the Going for Owen events.

[00:48:24] And those are helping to raise funds.

[00:48:26] I'm also now participating in the New York Marathon, supporting Trevay Foundation and Owen.

[00:48:34] And so those are the main methods that I am supporting and advocating for DSF.

[00:48:41] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[00:48:46] The biggest is knowledge gaining.

[00:48:49] There's so much knowledge.

[00:48:51] And as a parent who's been through it for 10 years and being on a lot of the leading edge technologies, a lot of this stuff is not really new for us.

[00:49:00] But there's always new tidbits.

[00:49:02] And there's new research and new insights.

[00:49:07] And so but maybe for someone who is just brand new to it or hasn't experienced it, there is a plethora of information, new treatments, new hope and joining a community.

[00:49:20] Living with Trevay is often a very isolating disease, as I'm sure you've heard from many people.

[00:49:25] And so being able to interact with other parents and hear their stories, hear their challenges and realize that you're not alone and that you're not isolated and getting connected so that you can continue to have those experiences with those people charging ahead with you.

[00:49:45] And you can call them up at midnight and say, I'm really struggling.

[00:49:48] And they get it and they can listen and say, yep, I understand.

[00:49:51] And I'm here for you.

[00:49:53] What do you wish you would have known, Suna?

[00:49:54] Oh, that is a that's a challenging question.

[00:49:59] For us, it's been it's a little bit challenging because we have very much always ask questions.

[00:50:06] And so we have learned about things as we go.

[00:50:12] But but really patience.

[00:50:16] And you always hear about patience and learning how to be that patient parent.

[00:50:21] But when you're going through with Trevay and all the experiences with that, the the need for patience is so much more that you that.

[00:50:36] Yeah, that's probably the biggest thing that you realize and you learn as you go.

[00:50:41] What have you discovered about yourself that you didn't expect?

[00:50:44] That I'm stronger than I thought I ever could be.

[00:50:48] You know, I try and be resilient.

[00:50:51] And I thought that I was a strong person.

[00:50:54] But seeing how as a family you have to come together and be strong.

[00:50:59] And in those times of emergency, you realize that I have to be on top of it for the one that I love so that I can take the best care of him.

[00:51:10] And then in those times, you realize how strong you really are.

[00:51:14] And then when the emergency is gone, you then absorb what has just happened.

[00:51:20] But in the time you are so strong.

[00:51:23] And even though it sounds on the outside that, hey, this is unattainable.

[00:51:26] And how do you do all this when you're in the middle of it?

[00:51:29] Those don't even cross your mind.

[00:51:31] Your only thought is, how do I take care of this person the best way that I can?

[00:51:36] And and then that's probably the biggest thing that I have learned.

[00:51:40] What message do you have for a family whose child's newly diagnosed?

[00:51:44] There is hope.

[00:51:46] It is a devastating disease, but there is hope.

[00:51:50] There is so much to has grown and so much that you can can learn from other people.

[00:51:58] And always ask for help.

[00:52:01] A lot of times we want to be doing it ourselves and saying, I can do it.

[00:52:06] But asking for help, building that community, talking to your doctors, having your care team and being able to ask for help so that you can.

[00:52:19] Have the best decisions and grab all the information and make the best decisions possible for for your children.

[00:52:25] Do you have a thank you note or a shout out you'd like to make for anyone?

[00:52:28] For one, I'd like to thank my wife.

[00:52:32] She is an amazing resource, amazing person, an amazing human being.

[00:52:38] And her strength and her her willingness to ask for help and lead and advocate is is such an amazing.

[00:52:48] Thing that I want to to express and cherish.

[00:52:53] And then lastly, again, the Dravet Foundation, the Dravet Syndrome Foundation has provided such a support for us through advocacy, through care support groups, through the conferences and bringing everybody together.

[00:53:08] That that is a wonderful resource that I'm so thankful for as a family.

[00:53:14] Please introduce yourself and your warrior.

[00:53:17] Hi, I'm Brenda Tisdale.

[00:53:18] My warrior is Addison.

[00:53:20] What's your role at the Dravet Syndrome Foundation?

[00:53:22] I'm new to the parent ambassador role, which I'm very excited about this year.

[00:53:29] And I've also hosted a fundraiser, Steps Towards a Cure, last year, and we raised over $10,000.

[00:53:38] And I'm so excited that we're doing and hosting another one this year, of course.

[00:53:43] And I'm addicted now and just so excited to keep raising money for Dravet Syndrome.

[00:53:50] This year, Dravet Syndrome Foundation celebrates its 15th anniversary.

[00:53:54] What message do you have for DSF?

[00:53:57] Great job.

[00:53:58] Like, just I'm so proud of Dravet Syndrome.

[00:54:01] I'm so proud of all of us coming together.

[00:54:03] Like, I'm getting goosebumps.

[00:54:04] Like, it's just everyone is one big family that we all are helping Dravet Syndrome become one bigger family every year.

[00:54:16] How do you advocate?

[00:54:18] Every day.

[00:54:19] Every day I advocate for my daughter, for the brothers and sisters, the siblings, the family, everybody.

[00:54:25] We, they'll ask, you know, what's, what does Addison have?

[00:54:32] And I say Dravet Syndrome.

[00:54:33] And they just look at me and I spell it out for them.

[00:54:36] And we actually just got these new stickers that have QR codes on them.

[00:54:40] And I'm going to put it on my water bottle.

[00:54:42] And that for sure is going to be even more advocating for us.

[00:54:46] So I'm excited to utilize that now.

[00:54:49] What are you most looking forward to at this year's conference?

[00:54:54] The connections.

[00:54:56] Like, just, this is what we come, this is our family vacation when we come here.

[00:55:01] Like, this is our family.

[00:55:02] And why not make it our family vacation?

[00:55:05] We are here to connect with everybody.

[00:55:09] Addison's in the Sierra Lights Dravet room right now.

[00:55:15] She is having so much fun just enjoying herself.

[00:55:21] She's painting.

[00:55:22] She's doing masks.

[00:55:24] She, like, that's part of it too.

[00:55:27] Addison connecting with her warrior friends.

[00:55:29] And then us connecting with all the parents.

[00:55:32] My husband's connecting with other male figures here too.

[00:55:36] And all the other dads, I should say.

[00:55:38] So yeah.

[00:55:39] What do you wish she would have known sooner?

[00:55:41] Probably that she had Dravet Syndrome.

[00:55:42] Because it was a good two years before we found out that it was Dravet.

[00:55:49] And we tried a lot of different seizure medications before we even got that diagnosis.

[00:55:54] So to known it sooner.

[00:55:57] Definitely.

[00:55:58] What have you discovered about yourself that you didn't expect?

[00:56:02] Oh gosh.

[00:56:03] I know everyone says, you're strong.

[00:56:05] You're so strong.

[00:56:06] But I guess just that, I mean, I would do anything for Addison anyways.

[00:56:11] But just us being closer.

[00:56:15] Like, my husband and I, our bond.

[00:56:18] Like, you don't know how that would have been without having our warrior.

[00:56:23] And just my inner strength, I guess, from everything.

[00:56:29] Just, yeah.

[00:56:29] What message do you have for a family with a newly diagnosed child?

[00:56:33] I always tell them to write everything down.

[00:56:39] And everything will be okay.

[00:56:41] Everyone is one big family.

[00:56:44] That you have any questions, talk to me.

[00:56:48] Like, call me whatever time of day.

[00:56:50] It can be 2 o'clock in the morning.

[00:56:52] I'll answer my phone.

[00:56:53] And we could talk if they're having a seizure.

[00:56:57] They don't know what to do.

[00:56:58] Things like that.

[00:56:59] It's just, it's a lot.

[00:57:01] You feel lonely.

[00:57:03] But having someone there that gets it is golden.

[00:57:09] Do you have a thank you note or a shout out?

[00:57:12] I can name off, like, 10 people that, if not more, with Mary Ann.

[00:57:18] Like, she's, I have a story about Mary Ann that when Addison was just diagnosed, I went on the Gervais website.

[00:57:29] And they, I had her number, I believe.

[00:57:34] And she answered.

[00:57:36] And I was talking with her and, you know, explaining Addison.

[00:57:41] And she was just like, everything's going to be great.

[00:57:44] We're actually going to have a walk.

[00:57:45] You need to come out and see all of us.

[00:57:47] And she's like, oh, by the way, she's like, I need to get going in, like, 10 minutes.

[00:57:50] I have to pick up Elliot from the bus.

[00:57:53] And just so casual that we were, like, if I wasn't talking with Mary Ann, like, she really put things into perspective for me.

[00:58:03] And said, it's going to be all right.

[00:58:06] It's going to be okay.

[00:58:07] We're here for you.

[00:58:09] And that's a huge shout out to Mary Ann.

[00:58:12] And we love her to death.

[00:58:15] Please introduce yourself and your warrior.

[00:58:18] Hi, I'm Jen Marasco-Kuhn.

[00:58:20] And my warrior is four-year-old Cora.

[00:58:22] This year, Gervais Syndrome Foundation celebrates its 15th anniversary.

[00:58:26] What message do you have for DSS?

[00:58:29] I just want to thank them for all the hard work they've done.

[00:58:34] I credit them and their parent support group for literally saving my daughter's life on multiple occasions.

[00:58:41] We were diagnosed at nine months.

[00:58:43] And two weeks after diagnosis, we were in the PICU.

[00:58:47] And I didn't understand the disease.

[00:58:49] I barely talked with an epitologist.

[00:58:51] And we found ourselves with a coded child in a PICU and lots of confusion.

[00:58:58] And I literally just poured my heart out on the Facebook support group.

[00:59:03] And these parents told me what to ask.

[00:59:05] They told me what to look for.

[00:59:07] They, you know, supported me 24-7.

[00:59:10] And I cannot be more grateful.

[00:59:13] And that is why a year later, I signed up to be a DSF ambassador because I didn't want anyone else to not have that support.

[00:59:23] And I just felt like I had so much to give back because I had such gratitude.

[00:59:28] How do you advocate?

[00:59:30] How don't I advocate?

[00:59:32] So I'm the original creator of the Diet for Gervais fundraiser.

[00:59:36] And it came about right after Cora was diagnosed.

[00:59:39] I'm a social worker by trade.

[00:59:41] And I couldn't, in good faith, be there for my clients.

[00:59:45] So I quit my job to take care of my child and to figure out our life.

[00:59:50] But I knew I had to do something.

[00:59:52] So I went and worked on farms for a year.

[00:59:55] And I knew they didn't care what I looked like.

[00:59:57] So I cut off my hair and donated for cancer.

[01:00:00] And I dyed it bright purple because it's always been my favorite color before epilepsy entered our life.

[01:00:06] And I really just wanted to show my support of my daughter in a creative way.

[01:00:13] And it was interesting.

[01:00:15] People would ask me then about my hair.

[01:00:17] And it gave me a reason to talk about Cora.

[01:00:19] And my hairdresser, Kelsey, who's amazing, she also was so inspired by what we were doing.

[01:00:27] She donated $10 for every person who dyed their hair purple during the month of November.

[01:00:34] And it was so spontaneous.

[01:00:35] I didn't ask her.

[01:00:37] She donated $100 to our Dash for Gervais.

[01:00:40] And we didn't advertise it.

[01:00:43] So I said to her, I was like, if you did that for us, why couldn't this be a movement for the Gervais Foundation?

[01:00:50] So I wrote up a proposal.

[01:00:52] I shared it with Misty.

[01:00:53] She loved it.

[01:00:54] And she worked her magic into what is Diet for Gervais now.

[01:00:57] And this is our third year.

[01:01:00] And we are over $40,000.

[01:01:02] And, you know, I say it puts the fun into fundraising because it's just so empowering to see, you know, people of all ages walking around with dyed hair, whether it's, you know, extensions, actual dyed hair, if it's a streak, if it's their whole head or their mustache or their beard.

[01:01:18] You know, everyone can get into it.

[01:01:20] And I'm just very, very proud that that's one way that I give back to advocacy.

[01:01:25] But we do the Dash for Gervais.

[01:01:28] We do the Give Up Your Cup.

[01:01:31] You know, we do the birthday months.

[01:01:34] We, you know, advertise for all the different epilepsy awareness days.

[01:01:38] You know, November.

[01:01:40] There's one in February.

[01:01:41] There's one in March.

[01:01:42] All of June for Gervais awareness.

[01:01:44] You know, we post all the time on social media because we want people to understand this rare world.

[01:01:51] And, you know, I advocate to teach others.

[01:01:55] But I do it to make sure people like me don't feel alone because I know I've been on my knees at the bottom of my rope and somebody from the Gervais community has picked me up.

[01:02:06] And I want those people who are in those moments at whatever point in their diagnosis to have, you know, a support.

[01:02:15] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[01:02:19] I have always said this.

[01:02:22] So I we were diagnosed during the pandemic.

[01:02:26] And everything was online.

[01:02:27] You know, it was all virtual.

[01:02:29] And it was great.

[01:02:29] You know, a lot of connections.

[01:02:31] But when the 2022 biennial conference came about, I left my family for the first time.

[01:02:37] And I got on a plane and went to Texas.

[01:02:40] And I knew people, but I didn't know people.

[01:02:44] I, the minute I got there, I felt like I was home.

[01:02:48] Like these people who I'd never met in person, they knew some of the most darkest, saddest times of my life.

[01:02:55] And they could relate to me in a way where I didn't have to, like, explain.

[01:03:02] Like I could just tell them something and they're like, I know.

[01:03:04] And it felt so comforting and so validating.

[01:03:09] And I am just so grateful.

[01:03:13] From that time, I've, you know, grown my relationships with a lot of my Gervais mamas.

[01:03:19] We got tattoos in 2022 of the DSF new logo.

[01:03:23] And now in 2024, we got different, you know, tattoos.

[01:03:27] I got the old logo.

[01:03:29] But it's like a connection.

[01:03:30] Like they are permanently in my soul.

[01:03:34] And now they're permanently on my body.

[01:03:35] They're in my life.

[01:03:36] And I'm just very indebted to their understanding and their love.

[01:03:42] What do you wish you would have known sooner?

[01:03:45] I really wish I would have pushed back harder with the first seizure.

[01:03:50] Um, I really wish I just would have advocated for the genetic testing then.

[01:03:56] But, you know, I blindly followed medical advice because at that time, like, I really knew, thought that they knew what was best.

[01:04:08] And now I really advocate, you know, whether someone gets, you know, a febrile seizure or like anything.

[01:04:17] I'm like, you ask for genetic testing.

[01:04:18] You push, you push, you push, you get connected.

[01:04:22] You need to have answers.

[01:04:23] And if it turns out it's nothing genetic.

[01:04:26] Okay, that's great.

[01:04:27] Like cross that off.

[01:04:29] And hopefully it doesn't happen again.

[01:04:31] But it's so hard living without answers.

[01:04:37] And there's a lot of guilt and regret that come from decisions made without the right information.

[01:04:45] What have you discovered about yourself that you didn't expect?

[01:04:49] So I'm a social worker by trade and I've always been an advocate.

[01:04:54] But it's different when it's your child or your life.

[01:04:58] And I worked with individuals dementia for 12 years and I ran caregiver support groups and I gave resources and I did evaluations.

[01:05:07] And I really thought, like, I knew and I was empathetic.

[01:05:12] But now I'm in this whole caregiver role and I just laugh at how much I didn't know.

[01:05:17] And I laugh at some of the guidance I gave back in the day because it came from a good place.

[01:05:23] But it was a place of ignorance because I'd never walked their shoes.

[01:05:28] And I'm so much more aware of what I say to people and where they are in their journey.

[01:05:40] Because I don't want to come off in a certain way that will make them uncomfortable.

[01:05:46] So I feel very humbled from my experience.

[01:05:51] And it's funny, I also, like, I was an advocate.

[01:05:55] But in the same vein of that, I kind of had a fear of, like, pushing back against doctors.

[01:06:03] I felt less than.

[01:06:04] Like, I didn't feel, like, as smart as them.

[01:06:08] So sometimes I don't think I pushed as hard back in the day.

[01:06:12] But now I have no fear whatsoever.

[01:06:16] I can't believe some of the things that have come out of my mouth, like, in talking to a medical professional.

[01:06:21] And I was like, you don't know our story.

[01:06:23] Like, that is not an appropriate thing to even think about.

[01:06:27] And I think of us more as partners.

[01:06:32] Whereas before, I felt it was a very hierarchical, like, relationship.

[01:06:38] And I am very proud of the growth that I've experienced because of my daughter.

[01:06:46] And it just comes from a place of love.

[01:06:48] Because I just want whatever's best for her.

[01:06:52] Do you have a thank you note or a shout out you'd like to make?

[01:06:55] Well, there's a lot.

[01:06:57] I mean, a general thank you just to the Gervais Syndrome Foundation.

[01:07:00] To the four parents who created DSF in 2009.

[01:07:06] You know, Marianne, she's just an inspiration.

[01:07:09] I remember meeting her in person in 2022.

[01:07:13] And I was just in awe of her.

[01:07:16] And she's just so humble.

[01:07:18] But she's done so much for this movement.

[01:07:22] And I'm so thankful for the DSF mamas who took me under their wing, you know, from when Cora was nine months old.

[01:07:31] And I was in a haze of confusion and uncertainty.

[01:07:36] And they're still lifting me up, you know, three years later.

[01:07:39] Even though I'm, like, this advocate ambassador.

[01:07:41] Like, you still have to be humble.

[01:07:43] We don't know it all.

[01:07:44] And it's an ever-changing landscape of information.

[01:07:47] And the parents that, you know, have older children or adult, you know, individuals.

[01:07:54] They are veterans.

[01:07:57] They're like the OGs.

[01:07:58] Like, they need to be revered and to ask, you know, their guidance and to continually be included.

[01:08:05] And so I'm so thankful for all the steps and missteps they took to help the younger generations.

[01:08:13] And I want to continue being that way.

[01:08:15] We participated in studies to help the growing body of information for Gervais and, you know, the future hope for the disease.

[01:08:26] And so I feel like they're my role models.

[01:08:30] And so I'm always just trying to find ways to lead in those steps for others like they did for us.

[01:08:38] And I want to thank the different medical teams that we've dealt with in Pittsburgh and in Ohio and Dr. Lori Lux.

[01:08:48] She's not our treating doctor, but she Zoomed with us in a pandemic to make sure we felt comfortable with the care we were getting.

[01:08:55] And she gave us so much peace of mind.

[01:08:58] She gave us more than 15 minutes of her scheduled time.

[01:09:00] And that was just so admirable and what we needed.

[01:09:06] And then I have to thank, you know, my husband.

[01:09:11] He's been a really big support and partner with this very topsy-turvy life we live.

[01:09:19] You know, we didn't plan this.

[01:09:21] And sometimes we're making it up day by day.

[01:09:24] But we're trying to come together and, you know, make a path.

[01:09:31] I want to thank the friends and family who've supported us, participated in our fundraising,

[01:09:38] who picked us up when we're down, who've made us meals, watched our older daughter Maggie,

[01:09:46] who just let us be and asked the question, how's Cora?

[01:09:52] How are you?

[01:09:52] And they genuinely care when they ask it.

[01:09:56] It's not just a surface, you know, knee-jerk reaction.

[01:10:00] They want to know.

[01:10:03] And I have to thank those who've supported us in terms of our careers.

[01:10:09] We switched careers when Cora was diagnosed, and it's not been an easy path.

[01:10:15] But people have opened doors for us.

[01:10:19] They've given us grace.

[01:10:22] They've supported us financially at times and provided us resources.

[01:10:27] And it truly makes a difference because you can't survive this without a village, without a community.

[01:10:34] And I credit a lot of them to where we are today.

[01:10:40] And I'm very, very grateful.

[01:10:44] Please introduce yourself and your warrior.

[01:10:46] I am Sarah Morin.

[01:10:48] We're from Alaska.

[01:10:49] And my warrior is Sawyer Morin.

[01:10:52] Also, Super Sawyer is what we call him.

[01:10:56] This year, Dravet Syndrome Foundation celebrates its 15th anniversary.

[01:10:59] What message do you have for DSF?

[01:11:02] I am so grateful to DSF for giving us this community and these resources.

[01:11:11] And before we had a diagnosis, I was so lost.

[01:11:15] And I really, once we got a diagnosis and I found this community, I was finally feeling like I had a little bit of control and a little bit of help.

[01:11:24] And just friends that understood and parents and caregivers and a foundation that really supports the patients and the families.

[01:11:36] How do you advocate?

[01:11:39] I advocate by telling everybody who will listen about Dravet Syndrome, about epilepsy, about safety, and about how it's not rare for people to have epilepsy.

[01:11:53] Dravet might be rare, but one in ten people will have a seizure.

[01:11:57] And we as a community, for all of those that have epilepsy, need to know what to do and need to know how to support those that can't always support themselves or to know what the signs look like.

[01:12:14] I have seen now so many seizures and it's never easy.

[01:12:19] But being prepared and knowing that this is what to do.

[01:12:25] And I've had so many people, because I'm very active and sharing on Facebook and stuff that I'm sharing on social media, what to do as seizure safety.

[01:12:35] And I have had people literally message me and say, someone was having a seizure and I knew what to do because of your post.

[01:12:42] And I've had at least three of those direct comments to me.

[01:12:45] And so that's really important to me to make that change, to help be that change in the world and to make my son's life safer by people knowing what to do if someone has a seizure.

[01:12:57] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[01:13:02] I think it is so important for families to attend conference and not just parents and caregivers, but the whole family if possible.

[01:13:13] Because one, you get a community not just for the caregivers, but for the siblings.

[01:13:20] Like my son, my oldest son, Salvador, his last time we came, like he made friends at sibling camp.

[01:13:28] And this wasn't just a day all about like, oh, seizures might stop our whole day if it happens.

[01:13:36] They're off making friends and having a good time and seizures are not controlling their whole world today.

[01:13:42] And my husband and I are making friends with and seeing more Gervais families that we've met before.

[01:13:49] And that connection is something you are not going to find anywhere else.

[01:13:53] And the Gervais conferences is exclusive.

[01:13:59] Like this is the only place you're really going to have this.

[01:14:02] And for two days, I've looked forward to this for two years because for these two days, three days, I'm just connecting with more people and giving more hugs.

[01:14:13] And I'm not even a hugger, but I will be here because it's just such a special place.

[01:14:20] What have you discovered about yourself that you didn't expect?

[01:14:23] I had no idea that I could be an advocate and that I could really stand up for.

[01:14:28] I'm I say stand up for myself.

[01:14:30] I'm really good at standing up for my children now.

[01:14:32] And that is not something that I was always kind of a pushover, really, and a people pleaser.

[01:14:37] But when it comes to my kids and my kids medical and my kids lives, I am now a very strong, my own warrior in that sense, because I I will push for what I believe is their best.

[01:14:51] And they deserve the best.

[01:14:53] My sons, both of them deserve every spot in this world.

[01:14:56] That they and and they they deserve their space, too.

[01:15:02] Like just because my youngest, just because Sawyer might be having a hard moment doesn't mean he doesn't deserve to be in the same space and get time or, you know, accommodations to make it anywhere accessible to him.

[01:15:17] But there's so much in the world that is hard for special needs families.

[01:15:22] And I will always fight for both of my children to have the best lives they can.

[01:15:29] What message do you have for a family with a newly diagnosed child?

[01:15:33] For newly diagnosed families, if you do not feel like something is right, it is OK to change plans.

[01:15:42] It is OK to ask for second opinions.

[01:15:44] It is good to ask for those things.

[01:15:47] If you are not comfortable with a plan, speak up.

[01:15:51] Don't just go along with it because they you're you're your kid's voice.

[01:15:56] You're the only person who knows them like you do.

[01:16:01] I mean, we know everything about our kids.

[01:16:03] I spend 24 hours a day with my son and my husband is our main provider, but he when he's home, he's 100 percent dad to both our kids.

[01:16:13] And we together make a lot of decisions.

[01:16:16] But we also he knows that I might know more because I'm the one with him all the time.

[01:16:23] And we are not afraid to say, no, we don't want to do that.

[01:16:27] We need to come up with something different or this isn't working.

[01:16:30] We need we need help like and it's it's OK to ask for help, too.

[01:16:35] Do you have a thank you note or a shout out for someone?

[01:16:39] I'm going to be very cliche here.

[01:16:41] My thank you is to my husband because I could not be home with our sons and I could not.

[01:16:49] Be truly fighting to give my children, our children the best.

[01:16:56] Please introduce yourself in your warrior.

[01:16:58] Hi, my name is Jenny Barneo.

[01:17:00] And my daughter is Samantha and she's five.

[01:17:03] This year, Dravet Foundation celebrates its 15th anniversary.

[01:17:07] What message do you have for DSF?

[01:17:09] I'm just so grateful for all their research, like even from when my daughter was first diagnosed in 2018,

[01:17:16] the way that they have like fleshed out their mission and their programs and the research and the and just the general like amount of resources for families is is has been pretty remarkable.

[01:17:28] So I'm just so grateful because it's been like just such a nice resource and also a way to meet other families, which is.

[01:17:36] The benefit of that can't be overstated.

[01:17:39] How do you advocate?

[01:17:41] Well, just I feel like the best way I can help my daughter is to just be at the be as educated as I as I can be regarding research and latest treatments and resources.

[01:17:53] What are you most looking forward to at this year's conference?

[01:17:57] I'm this is my first time at the conference and it's just been wonderful.

[01:18:00] And I'm I'm I've really benefited from meeting other families because even within the community, the kids are so, so, so different.

[01:18:10] And what works, you know, treatment wise for one family is not the same as the other.

[01:18:14] And it's just been.

[01:18:16] So there's that piece, the medical piece.

[01:18:17] And then just also just having any kind of special needs or medically fragile child is like you feel like you're on an island.

[01:18:25] And these when you're around people who just who just get it, it's just it's so it's refreshing.

[01:18:33] And it makes you feel like you have a community, you know.

[01:18:37] What have you discovered about yourself that you didn't expect?

[01:18:40] I didn't expect that I could live off of so little sleep.

[01:18:43] But I think I'm such a planner and and my brain is always like looking to the next thing, the next day, the next the next everything.

[01:18:51] And I've had to just slow it down and like be so in the moment that sometimes it's like literally minute to minute.

[01:18:59] And then and and because there's it's all an illusion anyway, I feel like right.

[01:19:06] Like when we think we have control over things, but it is.

[01:19:10] It's so front and center of every single day, how little control we have with with these kids, with this just devastating disease that it's.

[01:19:20] You really just have to appreciate like where you're at, the successes you have like at that present time.

[01:19:25] What do you wish you knew sooner?

[01:19:27] I think I wish I knew that there was I think for so long I was hesitant to meet other families.

[01:19:33] I think it really just came that I I probably couldn't handle even though I was aware of the disease and everything that came with it.

[01:19:39] I think I I viewed it as I just I just didn't think I could handle like under being around other kids with the disease and other families and just really understanding the reality.

[01:19:49] And it's actually been the opposite, that it's been just so beneficial and so helpful that I'm almost regretful that I didn't do it earlier.

[01:19:57] Because I think I think I could have really, really benefited from it, like especially like in the earlier years when.

[01:20:04] We just had a diagnosis and are just so in the weeds, you know, what message do you have for a family whose child was just diagnosed?

[01:20:13] Hang in there.

[01:20:14] I mean, I mean, we're even in my so my daughter was born in 2018.

[01:20:19] And even within that time, the treatments and the research that's been made available is is is.

[01:20:26] It's like it's absolutely like an avalanche now.

[01:20:29] It's and it's just gaining traction like like a snowball.

[01:20:31] And it's I really do think within their lifetime, there will be I know that there's her disease will never be gone.

[01:20:41] But I believe in her lifetime that she'll be seizure free.

[01:20:45] And that's like something that nobody could have said even a decade ago.

[01:20:50] I don't even think they could have entertained that possibility.

[01:20:53] And and I think I think we're really close for that.

[01:20:56] So do you have a thank you note or a shout out you'd like to make?

[01:21:01] Oh, God.

[01:21:03] It's just my husband has been like amazing.

[01:21:05] He's just been so wonderful.

[01:21:08] You just don't realize like.

[01:21:11] Until you're faced with it, like what you can endure and she's just been the epitome of a partner.

[01:21:21] Please introduce yourself and your warrior.

[01:21:24] My name is Brenda Farrell and my son is Brian Farrell.

[01:21:28] He's 31 years old.

[01:21:30] This year, Gervais Syndrome Foundation celebrates its 15th anniversary.

[01:21:34] What message do you have for DSF?

[01:21:36] I am so grateful for everything that they've done to help get medicines approved by the FDA, for research, for parent support.

[01:21:44] I mean, I just can't praise the organization enough.

[01:21:47] And to imagine that it started just as a group of parents and to see where it's grown in the few years that we've been here.

[01:21:54] How do you advocate?

[01:21:56] I'm on Facebook.

[01:21:58] I support the parent support groups.

[01:22:00] I participate in events, especially Steps for the Cure in Atlanta.

[01:22:06] And I'm now a parent ambassador this year.

[01:22:11] And I'm going to be hosting a parent get together in my region.

[01:22:17] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[01:22:22] To meet other people, to be encouraged, to be inspired, and to find out what's going on in the research and medicine protocols.

[01:22:32] What do you wish you would have known, Suna?

[01:22:36] I wish I had known I wasn't alone.

[01:22:39] What have you discovered about yourself that you didn't expect?

[01:22:42] I'm stronger than I thought I was.

[01:22:44] I can handle it more than I thought I could.

[01:22:50] And I really need the support and encouragement of the DSF.

[01:22:55] What message do you have for a family with a newly diagnosed child?

[01:23:00] To be as involved as possible in DSF.

[01:23:03] To get on the parent support groups.

[01:23:05] To share.

[01:23:07] To find out that you're not alone.

[01:23:08] That there are a lot of other people out there who have walked the similar path, even though yours is unique.

[01:23:15] Do you have a thank you note or a shout out for someone?

[01:23:18] I want to shout out to Marianne Meskus and Lori O'Driscoll for starting the Dervais Syndrome Foundation.

[01:23:25] And for their wonderful organization and planning.

[01:23:28] And for the incredible differences they've made in the lives of so many people.

[01:23:35] Please introduce yourself and your warrior.

[01:23:37] My name is Heather Johnson.

[01:23:39] And my warrior is Luella.

[01:23:41] And she is 14.

[01:23:43] This year, Dervais Syndrome Foundation celebrates its 15th anniversary.

[01:23:47] What message do you have for DSF?

[01:23:51] I'm very grateful for DSF.

[01:23:53] I mean, they've been around about as long as our daughter has been.

[01:23:57] And if they hadn't been there in the beginning, I don't know what we would have done.

[01:24:00] So I just am very grateful for all the work that they're doing.

[01:24:04] How do you advocate?

[01:24:08] I do as much as I can for my daughter.

[01:24:11] I do fundraisers for DSF.

[01:24:13] I try to get the word out about Dervais Syndrome.

[01:24:16] We do a fundraiser every year.

[01:24:18] This is year 11 for A Cake for a Cure.

[01:24:22] And yeah, we just do everything we can to raise funds for DSF for a cure.

[01:24:25] Why do you feel it is an important message for parents and caregivers to attend the biennial conference?

[01:24:32] I think it's really great to network with other parents, especially.

[01:24:36] All the information presented is really beneficial as well.

[01:24:40] But I think that one-to-one connection with other parents and caregivers is really key to get that relationship and get that camaraderie.

[01:24:52] You know, you all have shared experiences, and it's just great to have that connection.

[01:24:58] What do you wish you would have known, Suna?

[01:25:01] I think probably that there is hope.

[01:25:03] I mean, initially, when we first got the diagnosis, we just saw horror stories or heard about horror stories, rather.

[01:25:12] When you Google it, that's pretty much all you find.

[01:25:15] And knowing that there was hope, and especially that my daughter has had such a significant outcome, a great outcome with her diagnosis,

[01:25:24] and that she's doing as well as she is, I hope that she can provide some hope for other parents, too, that are just newly diagnosed.

[01:25:32] What have you discovered about yourself that you didn't expect?

[01:25:36] That I can stand up and speak in public.

[01:25:38] I've been asked to talk quite a bit about our situation in the past, that I can be strong,

[01:25:46] and just as strong as my daughter has to be because she's been through a lot in her short lifespan.

[01:25:52] So it's just one of those things where, you know, you don't know how strong you have to be until you're in that situation.

[01:25:59] So it's been a great learning experience for us, and I hope that other parents are able to step up and do what they need to do for their children as well.

[01:26:10] What message do you have for a parent whose child was just diagnosed?

[01:26:14] To advocate for your child.

[01:26:16] You know your child best.

[01:26:18] Don't always just go with the first doctor that you see.

[01:26:23] Seek out second opinions.

[01:26:25] Don't let them kind of push you in a direction that you don't feel comfortable with.

[01:26:29] If you are uncertain of a treatment or a drug, ask questions and just be an advocate for your child.

[01:26:38] Do you have a thank you note or a shout out you'd like to send to someone?

[01:26:41] The entire DSF staff.

[01:26:43] I mean, Marianne, everybody at DSF has been so welcoming and so encouraging along the way.

[01:26:52] I mean, you can email them.

[01:26:54] You can reach out to them at any time, and somebody will always reply.

[01:26:58] And it's just nice to know that we have that kind of support.

[01:27:04] Please introduce yourself and your connection to the Jervais community.

[01:27:07] I am Parisa Sanandaji.

[01:27:10] I head up global patient advocacy at Stoke Therapeutics, and I am thrilled to be here for my second DSF conference.

[01:27:20] This year, Jervais Syndrome Foundation celebrates its 15th anniversary.

[01:27:24] What message do you have for DSF?

[01:27:26] The main message I probably would have, actually for DSF, but really for our colleagues back at Stoke, is this is a really special community.

[01:27:39] And this is a special conference that I think more timely than ever matters to us as we're getting ready for the next phase of our company.

[01:27:51] And so we wouldn't be here if it wasn't for this advocacy organization and the families that they bring together from around the world.

[01:28:02] And I just want to say thank you to the DSF for doing this so beautifully.

[01:28:10] How can industry leaders collaborate more effectively with patients and caregivers to ensure that the development and delivery of treatments for rare diseases are truly patient-centered?

[01:28:21] Effie, this is one of my favorite questions.

[01:28:25] I think the biggest lesson and biggest takeaway is actually by participating, attending, asking questions, leaving space for the questions for which you don't have answers.

[01:28:38] And you can only do that if you're asking the questions and you say there are just a lot that we don't know and so much we can learn.

[01:28:48] And putting yourself humbly in the shoes of anyone who doesn't know, you end up being surprised by what you can learn.

[01:28:57] And coming here just even as a sort of real-time example, we've met many of the families that are here at the DSF conference.

[01:29:08] And until probably just a moment where I reunited with a family who we've met before, did it all sink in.

[01:29:16] And the IT stuff, the packages, some of the preparation, none of it really matters.

[01:29:23] And when you come face-to-face with a family who's faced so much, so many tests, and they're here because they're saying,

[01:29:32] listen, we also don't know and we're looking for answers.

[01:29:34] I think that's a really great partnership and makes you feel like you are with them because you are here humbly asking those questions and being open to not knowing.

[01:29:47] And I think that is the essence of involving families and patients in your development programs.

[01:29:55] What does it personally mean to you as an industry leader to be part of the journey in developing treatments for rare diseases?

[01:30:01] And how do you stay connected to the real-life impact of your work on the patients and their families?

[01:30:08] What are you taking home with you?

[01:30:09] This is a good question and a timely one as I was thinking about some of the logistical issues and the needing to kind of get my organizational self together.

[01:30:19] I think the biggest thing I take away is the connections and the human connections and the ability to find the common ground with families.

[01:30:33] And what I take away, and I would love to share this with my colleagues, is that we're reminded every time families come and visit us,

[01:30:39] but especially when we come to where they are and this is where you all are at,

[01:30:44] you're reminded about how much you don't know, but how much you also can have in common with people who are fighting with resilience

[01:30:54] and how much we are privileged to change the life of their families and how much we are privileged to be able to in any way interact with the families

[01:31:05] and with parents who are so strong and that we're open to learning from them.

[01:31:12] So that's it. I think a lot of it is really just staying humble and open to all the things you don't know.

[01:31:19] Do you have a thank you note or a shout out for anyone?

[01:31:22] Oh, yeah. I have a lot of thank you notes and shout outs.

[01:31:27] The first kind of place where I'll start is where it all kind of cascades outward,

[01:31:32] and it's Marianne Meskus and Veronica Hood and the way they are so generous with their time,

[01:31:39] with their commitment, and just with their passion across patient communities, with industry.

[01:31:47] The grace and calm they exude for me is so inspiring because it really helps me.

[01:31:52] Check myself when I get stressed and I think be like Marianne.

[01:31:57] And I would say that they really are just inspiring for me,

[01:32:02] and I'm so grateful that we get to work with the DSF.

[01:32:06] Please introduce yourself and your connection to the Dravet community.

[01:32:09] I'm Carrie Condon. I am a director of clinical development at Stoke Therapeutics.

[01:32:16] We work on a novel drug that works in Dravet syndrome.

[01:32:21] So that's my connection with the Dravet community.

[01:32:25] This year, Dravet Syndrome Foundation celebrates its 15th anniversary.

[01:32:30] What message do you have for DSF?

[01:32:32] Oh my goodness, that's so exciting.

[01:32:37] I guess congratulations.

[01:32:40] I listened to a talk earlier today about the journey of families with Dravet syndrome,

[01:32:47] and it has been long, and I'm sure it's been very emotional.

[01:32:55] So I guess congratulations on getting to where you are today.

[01:33:00] And I know there's still a long way to go, but you have done so much work.

[01:33:04] And yeah, we can just all see you shining.

[01:33:09] So congratulations.

[01:33:10] How can industry leaders collaborate more effectively with patients and caregivers

[01:33:14] to ensure that the development and delivery of treatments for rare diseases

[01:33:18] are truly patient-centered?

[01:33:19] So I guess during my experience in industry over the last 20-something years,

[01:33:27] I have seen this shift drastically over the last five maybe years.

[01:33:33] And it's really been at the leadership level where leaders in industry are listening

[01:33:42] to what the caregivers are saying.

[01:33:45] And then not just listening, but then trying to implement and do the thing that the caregivers

[01:33:53] are asking for.

[01:33:54] So I guess just more of that, more listening and learning from each other,

[01:34:00] trying to meet each other in the middle, whatever that means.

[01:34:06] What does it personally mean to you as an industry leader to be a part of the journey

[01:34:10] in developing treatments for rare diseases?

[01:34:12] And how do you stay connected to the real-life impact of your work on patients and their families?

[01:34:17] What are you taking home from this conference?

[01:34:20] So this is my job.

[01:34:22] This is what I've been doing with my career since I graduated from college.

[01:34:29] So I've just gotten so much meaning from being part of rare disease community and Dravet syndrome community.

[01:34:41] I think what I'm going to take home from this conference is remembering the faces of the moms and dads

[01:34:49] who came to the Stoke Therapeutics table, letting us know how hopeful they are about the drug that we're working on

[01:35:01] and what it might mean for their kids, for their families.

[01:35:04] Do you have a thank you note or a shout out that you'd like to leave for someone?

[01:35:08] I have a thank you note for Marianne Meskus.

[01:35:13] She is just so inspirational to me and to, I'm sure, so many people in industry.

[01:35:21] The way that she works to, you know, sort of bridge the communication barriers

[01:35:31] and any gaps that there are between industry and patient advocacy, she is just a rock star.

[01:35:37] So yeah, thanks, Marianne.

[01:35:39] Please introduce yourself and your connection to Dravet.

[01:35:42] Hi, my name is Roya Hakimzevin.

[01:35:44] I work with Bloom Science.

[01:35:46] I'm their director of patient advocacy.

[01:35:48] We have a program for Dravet syndrome,

[01:35:51] and so I've been connected with the Dravet syndrome foundation for a little over a year and a half now.

[01:35:57] This year, Dravet syndrome foundation celebrates its 15th anniversary.

[01:36:01] What message do you have for DSF?

[01:36:03] I just want to commend them on such a wonderful job they've done over the last 15 years.

[01:36:08] I've worked in the rare disease space for about 10 years now

[01:36:11] and worked in a number of different disease areas,

[01:36:14] and I really want to commend DSF for how they have really united their community,

[01:36:19] how they have fought for change,

[01:36:21] the number of treatments that they've gotten approved,

[01:36:23] and just really rallying this community together

[01:36:25] because they're so well-informed and they're doing just a terrific job.

[01:36:30] How can industry leaders collaborate more effectively with patients and caregivers

[01:36:34] to ensure that the development and delivery of treatments for rare disease are truly patient-centered?

[01:36:40] I think just getting involved as early as possible makes the biggest difference.

[01:36:45] Reaching out to the patient advocacy organizations as early as possible in the clinical development stage

[01:36:52] because when you're thinking of not only which disease area to go into,

[01:36:57] but you're starting to think about some of the preclinical studies,

[01:36:59] and then when you're transitioning over into your phase one, phase two studies,

[01:37:04] you want to make sure you're incorporating that patient voice.

[01:37:06] You want to think about the trial from not only a patient perspective,

[01:37:10] but a caregiver perspective to make it as seamless and easy as possible

[01:37:14] because you're really asking a lot of these families.

[01:37:17] I mean, some of these trials can take a few years of time,

[01:37:20] and so you want to be really mindful about what you're asking

[01:37:24] and what the experience is like at the sites

[01:37:28] and making sure the assessments are thoughtful.

[01:37:31] So really engaging with the advocacy organizations as early as possible,

[01:37:36] building a really good relationship,

[01:37:37] and also showing up to events like this where you get a chance to just meet patients,

[01:37:42] meet families, have conversations,

[01:37:44] and just start to build trust at a community level.

[01:37:47] What does it personally mean to you as an industry leader

[01:37:50] to be a part of the journey in developing treatments for rare diseases,

[01:37:53] and how do you stay connected to the real-life impact

[01:37:56] of your work on patients and their families?

[01:37:58] For me, it means the world to be involved in rare disease.

[01:38:02] I've spent my entire career in rare disease,

[01:38:04] so I've been connected for 10 years now,

[01:38:07] and I know it sounds a little bit cliche,

[01:38:09] but for me, rare is where the heart is.

[01:38:10] I can't imagine working in any other type of area

[01:38:13] just because this community is so well-informed,

[01:38:17] and they're so powerful.

[01:38:18] The collective voice of the rare disease community,

[01:38:20] in my opinion, is a force to be reckoned with.

[01:38:23] Just the amount of change that they've been able to initiate,

[01:38:27] whether it's through newborn screening initiatives,

[01:38:29] all of the work that the advocacy organizations have done

[01:38:32] with patient-focused drug development meetings,

[01:38:34] it's really remarkable, and it's forcing the FDA,

[01:38:39] it's forcing regulators to take these patients seriously,

[01:38:42] to listen to the caregivers, listen to the patients,

[01:38:45] find out what's important to them,

[01:38:47] so when people are making decisions about them,

[01:38:51] they're a part of the process, and it's all well-informed.

[01:38:55] Do you have a thank-you note or a shout-out for anyone?

[01:38:58] Oh, sure.

[01:38:59] I can think back to a couple of mentors I've had.

[01:39:02] One is Vivian Fernandez.

[01:39:04] I used to work with her when I was at Regenex Bio,

[01:39:07] and she's been a great role model for me,

[01:39:09] and the other is Jean Campbell,

[01:39:11] who's one of the co-founders of Peapals,

[01:39:13] and I've been connected with Jean for a few years now,

[01:39:15] and it's a really remarkable organization,

[01:39:17] and these two women inspire me constantly,

[01:39:22] and I stay in touch with them,

[01:39:25] and I know if there's ever a situation I'm in

[01:39:27] where I think, I wonder how, you know,

[01:39:29] what should I do in this situation?

[01:39:30] I always reach out either to Vivian or to Jean.

[01:39:34] Hi.

[01:39:35] Please introduce yourself

[01:39:36] and your connection to the Gervais community.

[01:39:38] My name is Gay Grossman,

[01:39:40] and I work with Jean DX.

[01:39:41] We are very excited to be here

[01:39:44] at the Gervais Syndrome Foundation Conference

[01:39:47] so that we can interact with patients and families

[01:39:50] that are directly affected by this syndrome.

[01:39:53] So this year,

[01:39:54] Gervais Syndrome Foundation celebrates its 15th anniversary.

[01:39:57] What message do you have for DSF?

[01:40:00] Congratulations.

[01:40:01] Congratulations for bringing all these families together.

[01:40:03] I met a family from Tanzania today.

[01:40:07] The woman, the mom, traveled all the way here

[01:40:10] because she wanted to meet families,

[01:40:11] and this was the first time she had ever met another family

[01:40:14] affected by the same syndrome as her child.

[01:40:18] How can industry leaders collaborate more effectively

[01:40:21] with patients and caregivers

[01:40:23] to ensure that these treatments and resources

[01:40:26] are truly patient-centered?

[01:40:28] It is so important for us to come to conferences like this

[01:40:32] because we get to show the materials

[01:40:34] to families who are utilizing them.

[01:40:36] So, for example, we have educational information

[01:40:39] about genetic testing

[01:40:40] that is designed to help the family

[01:40:43] have a conversation with their doctor

[01:40:45] when they're learning about different options

[01:40:47] that they have for genetic testing

[01:40:48] and deciding whether it's right for them

[01:40:50] and their family.

[01:40:51] And if we are developing materials

[01:40:53] that a family is going to use,

[01:40:54] I want to be able to share it with a family directly

[01:40:56] and say,

[01:40:57] is this helpful?

[01:40:59] Is this something that would help you

[01:41:00] have a conversation with your doctor?

[01:41:02] Are there things that you suggest

[01:41:03] that we do to change it?

[01:41:06] Being able to have the face-to-face conversations

[01:41:08] with patients.

[01:41:10] What does it personally mean to you

[01:41:12] as an industry leader

[01:41:13] to be a part of the journey

[01:41:14] for rare disease communities?

[01:41:16] And how do you stay connected

[01:41:18] to the real-life impact of your work

[01:41:20] on patients and families?

[01:41:23] Organizations like the Gervais Syndrome Foundation

[01:41:25] is what keeps us connected

[01:41:27] to not only the disorders in the families,

[01:41:30] but also what are the things

[01:41:31] that they're needing in their community.

[01:41:33] This organization was built

[01:41:35] to support families

[01:41:37] and we want to be able

[01:41:38] to connect with the organization

[01:41:40] to say,

[01:41:41] how can we best support your work?

[01:41:43] Do you have a thank you note

[01:41:45] or a shout out for someone?

[01:41:46] I have a thank you for you, Effie.

[01:41:48] I'm so excited that you're here

[01:41:50] collecting stories

[01:41:51] and talking to the families

[01:41:53] and I am really excited.

[01:41:55] I'm really excited to hear what they say

[01:41:56] because I listen to things like this

[01:41:58] to hear what families

[01:42:00] are concerned about.

[01:42:01] And sometimes I can get information

[01:42:04] and learn more for myself

[01:42:06] having lunch with families

[01:42:08] like I did today

[01:42:09] or when they come by the table

[01:42:11] that we have.

[01:42:12] But I know that I'm going to learn a lot

[01:42:14] by listening to this podcast

[01:42:15] and I'm really excited

[01:42:16] to hear the end result.

[01:42:18] Please introduce yourself

[01:42:19] and your warrior.

[01:42:20] My name is Brianne Trechter

[01:42:22] and my warrior is Berkeley,

[01:42:25] four-year-old.

[01:42:25] So this year,

[01:42:26] Gervais Syndrome Foundation

[01:42:27] celebrates its 15th anniversary.

[01:42:29] What message do you have for DSF?

[01:42:32] The biggest message

[01:42:33] is just thank you.

[01:42:34] I'm amazed by the work

[01:42:36] that our foundation is doing.

[01:42:38] When I stepped inside the conference room

[01:42:39] for the first time yesterday,

[01:42:41] just immediate tears.

[01:42:43] How do you advocate?

[01:42:45] I share our story as often

[01:42:48] and as loud as I can.

[01:42:52] What have you discovered about yourself

[01:42:54] that you didn't expect?

[01:42:55] Strength that I didn't know was there

[01:42:57] to do what needs to be done.

[01:42:59] What do you wish you knew sooner?

[01:43:01] I'm not sure that everything

[01:43:03] is going to be okay.

[01:43:04] What message do you have

[01:43:06] for a family whose child

[01:43:08] is newly diagnosed?

[01:43:11] Get in touch with

[01:43:12] the Gervais Syndrome Foundation

[01:43:14] as soon as you can.

[01:43:15] Research yourself

[01:43:17] and advocate.

[01:43:20] Why do you feel it's important

[01:43:21] for parents and caregivers

[01:43:23] to attend the biennial conference?

[01:43:27] The power of community,

[01:43:29] being together,

[01:43:30] is something that's truly amazing to see.

[01:43:34] Do you have a thank you note

[01:43:36] or a shout out for anyone?

[01:43:38] No one in specific,

[01:43:39] just the foundation in general.

[01:43:41] Just so thankful

[01:43:42] for all the work

[01:43:43] that has been done

[01:43:44] to pave the way for us now.

[01:43:46] Please introduce yourself

[01:43:48] and your warrior.

[01:43:49] Hi, my name is Joe Wigenti.

[01:43:51] My warrior is Rose Wigenti

[01:43:55] and she is four years old.

[01:43:58] This year,

[01:43:59] Gervais Syndrome Foundation

[01:44:00] celebrates its 15th anniversary.

[01:44:02] What message do you have for DSF?

[01:44:04] My message at this point

[01:44:06] is to be very thankful

[01:44:07] for everything that they're doing.

[01:44:08] I was very impressed

[01:44:09] with all the research grants

[01:44:10] that they've funded

[01:44:12] and all the different areas

[01:44:14] of Gervais Syndrome.

[01:44:15] So we're excited to see

[01:44:17] what's going to happen

[01:44:18] in the next few years.

[01:44:19] It seems like there's going

[01:44:21] to be exponential growth

[01:44:22] on finding out

[01:44:23] what's happening

[01:44:24] with Gervais Syndrome

[01:44:25] and how to treat it better.

[01:44:27] How do you advocate?

[01:44:31] Right now,

[01:44:32] my role in advocating

[01:44:34] is supporting my wife

[01:44:35] as much as I can.

[01:44:37] She's a...

[01:44:38] I'm very impressed

[01:44:39] with how she manages everything

[01:44:41] and stays on top of

[01:44:44] caring for our daughter.

[01:44:47] We're actually the grandparents

[01:44:49] of Rose.

[01:44:50] And so we've been trying

[01:44:53] to help as much as we can

[01:44:54] the younger parents

[01:44:55] that have been presented

[01:44:56] with this.

[01:44:57] We couldn't imagine

[01:44:58] being hit with this disease

[01:45:02] as younger parents

[01:45:04] in their 20s.

[01:45:04] So we try to be there

[01:45:06] for everybody

[01:45:07] and to help them

[01:45:10] navigate insurance,

[01:45:13] support doctors,

[01:45:15] you name it.

[01:45:16] And I think she's done

[01:45:18] a great job

[01:45:19] with helping other mothers

[01:45:20] out there.

[01:45:22] Why do you feel

[01:45:23] it's important

[01:45:23] for families and caregivers

[01:45:25] to attend the

[01:45:25] biennial conference?

[01:45:28] This was important

[01:45:29] for us because

[01:45:29] we've sort of been

[01:45:30] isolated through COVID.

[01:45:33] We have a COVID baby

[01:45:34] so we never

[01:45:35] took her out

[01:45:36] to anywhere

[01:45:37] or to meet anybody.

[01:45:38] So this conference

[01:45:41] has enabled us

[01:45:42] to meet other families

[01:45:43] that are going

[01:45:44] through the same thing

[01:45:44] and be part of

[01:45:46] the community

[01:45:46] and the support group.

[01:45:50] What have you discovered

[01:45:51] about yourself

[01:45:52] that you didn't expect?

[01:45:56] That I was still capable

[01:45:58] of being a new father

[01:45:59] after having my first one

[01:46:01] 32 years ago.

[01:46:03] So it's been

[01:46:05] quite a ride for us.

[01:46:07] And what do you wish

[01:46:08] you would have known sooner?

[01:46:13] Almost everything.

[01:46:15] I really feel

[01:46:17] maybe this could be

[01:46:19] something that

[01:46:19] the DSF talks about

[01:46:21] is a new parent

[01:46:23] or parents

[01:46:25] that have just

[01:46:27] been given

[01:46:28] the diagnosis

[01:46:28] of going through

[01:46:30] an orientation

[01:46:31] to educate us

[01:46:33] a little bit better

[01:46:34] instead of the piecemeal

[01:46:35] by whether it's

[01:46:38] your provider.

[01:46:40] Everybody's busy

[01:46:41] but even if we can

[01:46:42] do maybe

[01:46:43] an online orientation

[01:46:45] on how to manage

[01:46:49] the care,

[01:46:50] what to look for,

[01:46:53] a little bit of

[01:46:54] nurse,

[01:46:55] basic nurse training

[01:46:56] on how to do

[01:46:58] certain things,

[01:46:59] I feel that's

[01:47:01] necessary

[01:47:01] and that's something

[01:47:02] that we should discuss

[01:47:03] moving forward.

[01:47:05] What message

[01:47:06] do you have

[01:47:07] for that family

[01:47:07] who's newly diagnosed?

[01:47:10] Find mentors

[01:47:11] as fast as possible.

[01:47:14] Go to the DSF

[01:47:16] and to really

[01:47:16] ask for help

[01:47:17] and I think

[01:47:19] there'll be people

[01:47:20] there to

[01:47:20] guide them

[01:47:21] in the right direction.

[01:47:23] That's something

[01:47:24] that I can't speak

[01:47:25] highly enough

[01:47:26] is to get that

[01:47:27] support group

[01:47:28] around you.

[01:47:29] Do you have

[01:47:30] a thank you note

[01:47:31] or a shout out?

[01:47:33] Due to our

[01:47:34] location

[01:47:35] and moving

[01:47:36] around a lot,

[01:47:37] we've had to leave

[01:47:38] Dr. Wheelis

[01:47:39] out of Memphis

[01:47:41] as our main

[01:47:42] provider

[01:47:43] and I want to

[01:47:45] personally thank him

[01:47:46] for everything.

[01:47:47] Please introduce

[01:47:48] yourself

[01:47:49] and your warrior.

[01:47:50] I am Brandy Murray

[01:47:51] and our daughter

[01:47:52] is almost three

[01:47:53] and her name

[01:47:53] is Kennedy.

[01:47:54] This year,

[01:47:55] Dervais Syndrome

[01:47:56] Foundation is

[01:47:57] celebrating its

[01:47:57] 15th anniversary.

[01:47:58] What message

[01:47:59] do you have

[01:48:00] for DSF?

[01:48:01] Oh,

[01:48:02] goodness.

[01:48:04] Thank you

[01:48:05] for the hope

[01:48:07] and the persistence

[01:48:09] to continue

[01:48:10] for the next day.

[01:48:12] How do you

[01:48:13] advocate?

[01:48:14] By telling

[01:48:15] everybody.

[01:48:16] We share

[01:48:17] her story

[01:48:18] on different

[01:48:18] forms of

[01:48:19] social media.

[01:48:20] We try

[01:48:22] to wear

[01:48:23] DSF-related

[01:48:24] merchandise

[01:48:24] and if

[01:48:26] anybody asks

[01:48:27] about her

[01:48:27] from finding

[01:48:28] out on social

[01:48:29] media,

[01:48:29] we will talk

[01:48:29] about it

[01:48:30] all day long.

[01:48:32] Why do you

[01:48:32] feel it's

[01:48:33] important for

[01:48:33] parents and

[01:48:34] caregivers to

[01:48:34] attend the

[01:48:35] biennial conference?

[01:48:36] Camaraderie,

[01:48:37] community,

[01:48:38] being with people

[01:48:39] that understand

[01:48:40] your day-to-day,

[01:48:41] not just ones

[01:48:41] that see

[01:48:42] what you post

[01:48:43] on social media.

[01:48:44] What do you

[01:48:44] wish you would

[01:48:45] have known

[01:48:45] sooner?

[01:48:46] Everything.

[01:48:48] I wish I

[01:48:49] would have

[01:48:49] known.

[01:48:50] All the

[01:48:51] ins and

[01:48:51] outs of

[01:48:52] epilepsy.

[01:48:53] I wish

[01:48:54] doctors would

[01:48:55] have explained

[01:48:56] it better

[01:48:57] and I wish

[01:48:58] we would have

[01:48:58] found the

[01:48:59] community

[01:48:59] sooner.

[01:49:00] What have

[01:49:00] you discovered

[01:49:01] about yourself

[01:49:01] that you

[01:49:02] didn't expect?

[01:49:03] The strength.

[01:49:04] You fight

[01:49:05] every single

[01:49:05] day even

[01:49:06] if you

[01:49:07] have nothing

[01:49:07] to fight

[01:49:07] with.

[01:49:09] What message

[01:49:10] do you

[01:49:10] have for a

[01:49:10] family with

[01:49:11] a newly

[01:49:11] diagnosed

[01:49:11] child?

[01:49:13] Keep

[01:49:13] going.

[01:49:14] Find your

[01:49:14] people.

[01:49:15] Find the

[01:49:15] ones that

[01:49:16] accept you

[01:49:17] and will

[01:49:18] help and

[01:49:18] fight alongside

[01:49:19] of you.

[01:49:20] Do you

[01:49:20] have a

[01:49:21] thank you

[01:49:21] note or

[01:49:21] shout out

[01:49:22] for anyone?

[01:49:24] My husband

[01:49:25] for doing

[01:49:26] everything he

[01:49:27] possibly can

[01:49:27] for all of

[01:49:28] us and

[01:49:29] the sacrifices

[01:49:29] that we all

[01:49:30] make for

[01:49:30] our daughter,

[01:49:31] for our

[01:49:32] Jervais daughter

[01:49:32] and the

[01:49:34] friends that

[01:49:34] have stayed

[01:49:35] along the

[01:49:35] way.

[01:49:36] The ones

[01:49:36] that didn't

[01:49:37] get scared

[01:49:38] and fearful

[01:49:39] and continue

[01:49:40] to treat us

[01:49:40] like family.

[01:49:41] Please

[01:49:42] introduce

[01:49:43] yourself and

[01:49:43] your warrior.

[01:49:45] I'm Bill

[01:49:45] Kirshner and

[01:49:47] Zoe's

[01:49:48] grandfather.

[01:49:49] This year

[01:49:50] Dravet Syndrome

[01:49:51] Foundation celebrates

[01:49:52] its 15th year

[01:49:53] anniversary.

[01:49:53] What message

[01:49:54] do you have

[01:49:55] for DSF?

[01:49:56] I have a

[01:49:57] message of

[01:49:57] thank you

[01:49:59] and yes

[01:50:00] we can.

[01:50:02] I see

[01:50:03] people feeling

[01:50:05] the love.

[01:50:06] I see us

[01:50:08] advancing

[01:50:10] treatments

[01:50:11] and

[01:50:14] manifesting

[01:50:15] the hope.

[01:50:17] How do

[01:50:18] you advocate?

[01:50:19] I try not

[01:50:20] to be the

[01:50:21] guy who

[01:50:22] says oh

[01:50:22] and by

[01:50:23] the way

[01:50:23] have you

[01:50:24] heard of

[01:50:24] Dravet Syndrome

[01:50:25] but I am

[01:50:26] kind of

[01:50:26] that guy.

[01:50:28] What have

[01:50:29] you discovered

[01:50:29] about yourself

[01:50:30] that you

[01:50:30] didn't expect?

[01:50:31] I knew

[01:50:32] that when

[01:50:34] Zoe got

[01:50:35] the diagnosis

[01:50:36] and her

[01:50:37] parents

[01:50:38] felt the

[01:50:39] weight of

[01:50:40] that

[01:50:40] that I

[01:50:41] had to

[01:50:42] do

[01:50:42] something

[01:50:43] and I

[01:50:45] didn't know

[01:50:45] what it

[01:50:46] would be

[01:50:46] but getting

[01:50:47] involved

[01:50:49] in my

[01:50:50] capacity

[01:50:50] with DSF

[01:50:52] has

[01:50:53] been what

[01:50:54] I'm going

[01:50:55] to do.

[01:50:56] What do

[01:50:56] you wish

[01:50:57] you would

[01:50:57] have known

[01:50:57] sooner?

[01:50:58] You're not

[01:50:59] going to get

[01:51:00] to know.

[01:51:00] There's

[01:51:01] you know

[01:51:01] I just

[01:51:01] am rereading

[01:51:03] Odysseus

[01:51:04] and the

[01:51:04] Odyssey

[01:51:05] fate

[01:51:06] plays a

[01:51:06] big role.

[01:51:08] It really

[01:51:08] does.

[01:51:09] And so

[01:51:11] trying to

[01:51:12] accept

[01:51:13] what

[01:51:14] comes our

[01:51:14] way

[01:51:15] that doesn't

[01:51:15] mean you're

[01:51:16] not going

[01:51:16] to do

[01:51:16] anything

[01:51:17] about it

[01:51:17] but try

[01:51:18] to

[01:51:19] accept

[01:51:20] that

[01:51:20] and get

[01:51:21] to that

[01:51:22] as soon

[01:51:22] as possible.

[01:51:23] Why do

[01:51:24] you feel

[01:51:24] it's important

[01:51:24] for families

[01:51:26] and caregivers

[01:51:26] to attend

[01:51:27] the biennial

[01:51:27] conference?

[01:51:28] You get

[01:51:29] to feel

[01:51:29] the love

[01:51:30] you get

[01:51:30] to talk

[01:51:30] to people

[01:51:31] who really

[01:51:31] get it

[01:51:32] and you're

[01:51:34] going to

[01:51:34] learn some

[01:51:35] of the

[01:51:35] technical

[01:51:35] stuff.

[01:51:36] You're

[01:51:36] going to

[01:51:37] learn what's

[01:51:38] available.

[01:51:39] It's obviously

[01:51:40] important to

[01:51:41] people because

[01:51:42] that's a big

[01:51:43] effort to bring

[01:51:43] your family

[01:51:44] and your

[01:51:45] loved one

[01:51:46] and people

[01:51:47] to help

[01:51:47] with care.

[01:51:48] You know

[01:51:48] it's tremendous

[01:51:49] efforts but it

[01:51:51] must be worth

[01:51:51] worth it to

[01:51:52] people because

[01:51:53] they're showing

[01:51:54] up.

[01:51:54] What message

[01:51:55] do you have

[01:51:55] for a family

[01:51:56] whose child

[01:51:56] is newly

[01:51:57] diagnosed?

[01:51:57] We love

[01:51:58] you.

[01:51:59] It's hard

[01:52:00] and there

[01:52:00] are ways

[01:52:01] to make

[01:52:01] it better.

[01:52:02] Do you

[01:52:02] have a

[01:52:02] thank you

[01:52:03] note or

[01:52:03] a shout

[01:52:04] out for

[01:52:04] anyone?

[01:52:05] Hey,

[01:52:05] shouting out

[01:52:06] to Team

[01:52:06] Zoe.

[01:52:07] We're here.

[01:52:08] We're

[01:52:08] together.

[01:52:10] Please introduce

[01:52:11] yourself and

[01:52:11] your warrior.

[01:52:12] My name

[01:52:13] is Avital

[01:52:14] Shapira

[01:52:15] Gonan and

[01:52:16] my son's

[01:52:16] name is

[01:52:17] Eitan.

[01:52:18] He's six

[01:52:18] years old,

[01:52:20] diagnosed

[01:52:21] with

[01:52:21] Dravet,

[01:52:21] about

[01:52:22] seven or

[01:52:24] eight months

[01:52:24] old.

[01:52:25] This year

[01:52:26] Dravet

[01:52:26] Syndrome

[01:52:26] Foundation

[01:52:27] celebrates

[01:52:27] its

[01:52:28] 15th

[01:52:28] anniversary.

[01:52:29] What

[01:52:29] message

[01:52:30] do you

[01:52:30] have

[01:52:30] for

[01:52:30] DSF?

[01:52:32] Thank

[01:52:32] you for

[01:52:33] everything

[01:52:33] you've

[01:52:33] done.

[01:52:35] Honestly,

[01:52:36] we owe

[01:52:38] his life

[01:52:39] to you

[01:52:40] basically.

[01:52:41] If it

[01:52:41] wasn't for

[01:52:42] everything

[01:52:42] that they're

[01:52:43] doing and

[01:52:43] pushing

[01:52:44] forward,

[01:52:44] we would

[01:52:45] have no

[01:52:45] hope and

[01:52:46] we would

[01:52:47] have no

[01:52:47] options.

[01:52:48] How do

[01:52:49] you advocate?

[01:52:50] advocate for

[01:52:51] DSF?

[01:52:53] Well,

[01:52:54] I try to

[01:52:55] share things

[01:52:55] on social

[01:52:56] media.

[01:52:57] I talk

[01:52:57] openly about

[01:52:58] his

[01:52:59] diagnosis

[01:53:01] and

[01:53:03] what it

[01:53:05] means for

[01:53:06] us in

[01:53:07] the day

[01:53:07] to day.

[01:53:09] I

[01:53:11] have

[01:53:12] really

[01:53:12] strong

[01:53:13] friends in

[01:53:14] the Dravet

[01:53:14] community,

[01:53:15] probably

[01:53:15] some of

[01:53:16] my best

[01:53:16] friends

[01:53:16] because

[01:53:18] it's

[01:53:19] hard to

[01:53:19] find people

[01:53:20] who

[01:53:20] understand

[01:53:21] and

[01:53:23] know

[01:53:23] exactly

[01:53:24] what you're

[01:53:24] going

[01:53:24] through

[01:53:25] and

[01:53:25] are

[01:53:26] in

[01:53:26] it

[01:53:26] just

[01:53:27] the way

[01:53:27] that

[01:53:27] you

[01:53:27] are.

[01:53:28] Why do

[01:53:29] you feel

[01:53:29] it's

[01:53:30] important

[01:53:30] for parents

[01:53:31] and

[01:53:31] caregivers

[01:53:31] to

[01:53:32] attend

[01:53:32] the

[01:53:32] biennial

[01:53:33] conference?

[01:53:34] Well,

[01:53:35] to get

[01:53:35] cutting-edge

[01:53:36] new

[01:53:36] information

[01:53:37] about

[01:53:40] research,

[01:53:41] therapy

[01:53:42] options,

[01:53:44] making

[01:53:44] friends,

[01:53:46] and just

[01:53:46] kind of

[01:53:47] I think

[01:53:48] that every

[01:53:49] time I

[01:53:49] come here,

[01:53:50] even though

[01:53:51] some of

[01:53:52] the stuff

[01:53:52] is heavy,

[01:53:54] for me

[01:53:54] it's also

[01:53:55] a bit

[01:53:55] of a

[01:53:55] release.

[01:53:56] I can

[01:53:56] just

[01:53:57] be

[01:53:58] myself

[01:53:58] here.

[01:54:00] What

[01:54:01] have

[01:54:01] you

[01:54:01] discovered

[01:54:01] about

[01:54:02] yourself

[01:54:02] that you

[01:54:02] didn't

[01:54:03] expect?

[01:54:04] I

[01:54:04] guess

[01:54:04] that I'm

[01:54:05] stronger

[01:54:06] than I

[01:54:06] am,

[01:54:06] and

[01:54:07] that I

[01:54:08] guess

[01:54:08] that I'm

[01:54:09] a tough

[01:54:09] mama bear,

[01:54:10] I don't

[01:54:10] know.

[01:54:11] What do

[01:54:11] you wish

[01:54:12] that you

[01:54:12] knew

[01:54:12] sooner?

[01:54:13] Well,

[01:54:14] it's

[01:54:14] hard to

[01:54:15] say.

[01:54:15] I

[01:54:16] think

[01:54:18] that

[01:54:18] I'm

[01:54:19] more

[01:54:19] realistic

[01:54:19] now,

[01:54:20] and

[01:54:22] maybe

[01:54:23] I was

[01:54:25] a

[01:54:26] little

[01:54:26] bit

[01:54:28] more

[01:54:28] in

[01:54:29] the

[01:54:29] beginning

[01:54:30] when we

[01:54:30] first

[01:54:32] started

[01:54:32] our

[01:54:33] journey

[01:54:33] I

[01:54:33] was

[01:54:33] all

[01:54:34] about

[01:54:34] I'm

[01:54:34] going

[01:54:35] to

[01:54:35] cure

[01:54:35] him,

[01:54:36] I'm

[01:54:36] going

[01:54:36] to

[01:54:36] find

[01:54:36] the

[01:54:37] thing

[01:54:37] that

[01:54:38] is

[01:54:39] going

[01:54:39] to

[01:54:39] change

[01:54:39] him

[01:54:39] and

[01:54:40] I'm

[01:54:40] going

[01:54:40] to

[01:54:40] change

[01:54:40] the

[01:54:40] prognosis

[01:54:41] and

[01:54:41] everything.

[01:54:41] I think

[01:54:41] now I'm

[01:54:42] a little

[01:54:42] bit

[01:54:43] more

[01:54:43] realistic

[01:54:44] about

[01:54:45] and

[01:54:46] more

[01:54:46] accepting

[01:54:46] that

[01:54:47] this

[01:54:47] is

[01:54:47] our

[01:54:48] new

[01:54:48] normal.

[01:54:49] What

[01:54:49] message

[01:54:50] do

[01:54:50] you

[01:54:50] have

[01:54:50] for

[01:54:51] a

[01:54:51] family

[01:54:51] with

[01:54:52] a

[01:54:52] newly

[01:54:52] diagnosed

[01:54:52] child?

[01:54:53] To

[01:54:53] really

[01:54:53] savor

[01:54:54] the

[01:54:54] good

[01:54:54] days?

[01:54:55] I guess

[01:54:55] just never

[01:54:56] give up

[01:54:56] hope.

[01:54:57] Always

[01:54:57] try new

[01:54:57] things.

[01:54:58] There's

[01:54:59] always

[01:55:00] a new

[01:55:00] medicine

[01:55:01] to try.

[01:55:01] There's

[01:55:01] always

[01:55:02] a new

[01:55:03] thing

[01:55:04] to do.

[01:55:05] Go get

[01:55:05] more

[01:55:06] opinions.

[01:55:07] If you

[01:55:07] feel like

[01:55:07] you're

[01:55:08] getting

[01:55:08] roadblocks

[01:55:09] from your

[01:55:09] doctor,

[01:55:09] then go

[01:55:10] get another

[01:55:10] doctor.

[01:55:11] Always

[01:55:12] have an

[01:55:12] open

[01:55:12] mind.

[01:55:12] Do you

[01:55:13] have a

[01:55:13] thank you

[01:55:14] note or

[01:55:14] shout

[01:55:14] out for

[01:55:15] anyone?

[01:55:15] Really

[01:55:16] everybody.

[01:55:17] It's not

[01:55:18] just one

[01:55:18] person.

[01:55:19] I guess

[01:55:20] thank you

[01:55:21] to Dr.

[01:55:22] Davinsky.

[01:55:23] He's

[01:55:24] been

[01:55:24] amazing

[01:55:25] and

[01:55:27] just

[01:55:27] really

[01:55:28] helped

[01:55:28] us

[01:55:29] get to

[01:55:30] where we

[01:55:30] are

[01:55:30] right now.

[01:55:31] Thank you

[01:55:32] to all

[01:55:32] the

[01:55:32] researchers

[01:55:33] and to

[01:55:34] DSF

[01:55:35] and to

[01:55:36] my

[01:55:37] husband,

[01:55:37] I guess.

[01:55:39] Please

[01:55:39] introduce

[01:55:39] yourself

[01:55:40] and your

[01:55:40] warrior.

[01:55:41] My name

[01:55:41] is Nathan

[01:55:43] Batt.

[01:55:43] I live

[01:55:44] in Atlanta,

[01:55:45] Georgia,

[01:55:45] and I

[01:55:45] actually have

[01:55:45] two sons

[01:55:46] with

[01:55:46] Dravet syndrome.

[01:55:47] Cooper,

[01:55:48] who is

[01:55:48] just about

[01:55:49] to turn

[01:55:49] seven,

[01:55:50] and Colton,

[01:55:50] who is

[01:55:51] five and

[01:55:51] a half.

[01:55:52] This year,

[01:55:52] Dervais

[01:55:52] syndrome

[01:55:53] foundation

[01:55:53] is celebrating

[01:55:54] its 15th

[01:55:55] anniversary.

[01:55:56] What message

[01:55:56] do you have

[01:55:57] for DSF?

[01:55:58] Thank you

[01:55:58] for coming

[01:55:59] into existence

[01:55:59] 15 years

[01:56:00] ago.

[01:56:01] Our family

[01:56:02] would not

[01:56:02] be where

[01:56:03] they are

[01:56:04] today on

[01:56:04] the great

[01:56:05] care

[01:56:06] pathway

[01:56:06] without

[01:56:07] being

[01:56:07] plugged into

[01:56:08] this community.

[01:56:09] It was

[01:56:10] Dravet syndrome

[01:56:10] foundation

[01:56:11] and the

[01:56:11] work

[01:56:11] they did

[01:56:12] with their

[01:56:12] website

[01:56:13] and connecting

[01:56:14] physicians.

[01:56:16] That really

[01:56:16] allowed us

[01:56:17] to get the

[01:56:17] proper

[01:56:18] diagnosis

[01:56:19] and care.

[01:56:20] Why do you

[01:56:20] feel it's

[01:56:21] important for

[01:56:21] parents and

[01:56:22] caregivers to

[01:56:23] attend the

[01:56:23] biennial

[01:56:24] conference?

[01:56:25] Besides

[01:56:26] the knowledge

[01:56:28] that you

[01:56:28] gain from

[01:56:29] the sessions,

[01:56:29] it's also

[01:56:30] really amazing

[01:56:31] to meet

[01:56:31] other

[01:56:33] families that

[01:56:34] are dealing

[01:56:34] with Dravet

[01:56:35] and how

[01:56:36] they're

[01:56:36] navigating

[01:56:36] things.

[01:56:37] It's

[01:56:37] just a

[01:56:37] good

[01:56:37] community

[01:56:38] support

[01:56:39] group.

[01:56:40] You just

[01:56:41] don't get

[01:56:41] the same

[01:56:41] connectivity

[01:56:42] on Facebook

[01:56:44] or places

[01:56:44] like that

[01:56:45] as you

[01:56:45] do in

[01:56:45] person.

[01:56:46] What do

[01:56:46] you wish

[01:56:46] you would

[01:56:46] have

[01:56:46] known

[01:56:46] sooner?

[01:56:47] I

[01:56:47] think I

[01:56:47] wish I

[01:56:48] would have

[01:56:48] connected

[01:56:48] sooner

[01:56:49] with

[01:56:50] the

[01:56:51] families

[01:56:51] that are

[01:56:52] in the

[01:56:52] same

[01:56:52] place

[01:56:52] you

[01:56:52] are.

[01:56:53] For

[01:56:53] the

[01:56:53] first

[01:56:55] couple

[01:56:56] years,

[01:56:56] I don't

[01:56:57] want to

[01:56:57] say I

[01:56:57] live

[01:56:57] in

[01:56:57] denial,

[01:56:58] but I

[01:57:00] didn't

[01:57:00] want to

[01:57:00] become

[01:57:01] part of

[01:57:01] this

[01:57:02] world because

[01:57:02] I thought

[01:57:03] maybe it

[01:57:05] we were

[01:57:06] the

[01:57:06] exception

[01:57:07] to the

[01:57:07] rule or

[01:57:07] whatever you

[01:57:08] want to

[01:57:08] call it.

[01:57:09] It's

[01:57:09] just

[01:57:09] getting

[01:57:10] plugged

[01:57:10] into the

[01:57:10] community

[01:57:11] is

[01:57:11] something

[01:57:11] I

[01:57:11] wish I

[01:57:11] would

[01:57:12] have

[01:57:12] done

[01:57:12] much

[01:57:12] earlier.

[01:57:13] Do you

[01:57:14] have a

[01:57:14] thank you

[01:57:14] note or

[01:57:15] a

[01:57:35] impact

[01:57:35] in the

[01:57:36] community

[01:57:36] but how

[01:57:37] much

[01:57:37] research

[01:57:37] we're

[01:57:38] able

[01:57:38] to

[01:57:38] do,

[01:57:39] the

[01:57:39] traction

[01:57:40] that

[01:57:40] we

[01:57:40] have

[01:57:40] with

[01:57:41] the

[01:57:41] scientific

[01:57:41] and

[01:57:42] medical

[01:57:42] communities.

[01:57:43] Just a

[01:57:44] big shout

[01:57:44] out to

[01:57:45] everyone

[01:57:45] who

[01:57:45] has

[01:57:45] been

[01:57:46] involved

[01:57:47] in

[01:57:47] getting

[01:57:47] us

[01:57:48] to

[01:57:48] this

[01:57:48] point.

[01:57:49] Please

[01:57:49] introduce

[01:57:50] yourself

[01:57:50] and

[01:57:50] your

[01:57:51] warrior.

[01:57:51] My

[01:57:51] name

[01:57:51] is

[01:57:52] Tatiana

[01:57:52] Lopez

[01:57:53] and I

[01:57:53] am

[01:57:54] the

[01:57:54] mother

[01:57:54] of

[01:57:55] a

[01:57:55] four-year-old

[01:57:56] Gervais

[01:57:56] warrior

[01:57:57] Eliana

[01:57:58] Lopez.

[01:57:59] This

[01:57:59] year,

[01:58:00] Gervais

[01:58:00] Syndrome

[01:58:00] Foundation

[01:58:01] celebrates

[01:58:01] its

[01:58:02] 15th

[01:58:02] anniversary.

[01:58:03] What

[01:58:03] message

[01:58:03] do

[01:58:04] you

[01:58:04] have

[01:58:04] for

[01:58:04] DSF?

[01:58:06] Thank

[01:58:07] you.

[01:58:09] There's

[01:58:10] no

[01:58:10] words

[01:58:11] that I

[01:58:12] can

[01:58:12] actually

[01:58:13] think

[01:58:13] of

[01:58:13] other

[01:58:14] than

[01:58:14] thank

[01:58:14] you

[01:58:15] because

[01:58:15] I

[01:58:15] remember

[01:58:16] the

[01:58:17] day

[01:58:17] that I

[01:58:17] got

[01:58:17] my

[01:58:17] diagnosis

[01:58:18] for

[01:58:18] my

[01:58:18] daughter

[01:58:19] and

[01:58:20] the

[01:58:20] doctor

[01:58:21] gave

[01:58:21] me

[01:58:21] a

[01:58:22] Google

[01:58:22] printout

[01:58:23] and

[01:58:24] said

[01:58:24] this

[01:58:25] is

[01:58:25] what

[01:58:25] we

[01:58:25] found

[01:58:26] online

[01:58:26] when

[01:58:27] we

[01:58:27] Google

[01:58:28] Gervais

[01:58:28] Syndrome

[01:58:29] maybe

[01:58:30] they

[01:58:30] can

[01:58:30] help

[01:58:31] you

[01:58:32] and

[01:58:33] the

[01:58:34] Drivet

[01:58:34] Syndrome

[01:58:36] website

[01:58:36] was one

[01:58:37] of the

[01:58:37] first

[01:58:37] things

[01:58:38] on there

[01:58:38] and the

[01:58:39] only

[01:58:39] thing

[01:58:39] that I

[01:58:39] found

[01:58:40] so

[01:58:40] without

[01:58:41] them

[01:58:41] I

[01:58:42] wouldn't

[01:58:43] have

[01:58:43] made

[01:58:43] it

[01:58:43] probably

[01:58:44] through

[01:58:44] the

[01:58:44] first

[01:58:44] year

[01:58:46] without

[01:58:47] having

[01:58:48] a

[01:58:48] peace

[01:58:48] of

[01:58:48] mind

[01:58:49] for

[01:58:49] sure

[01:58:50] how

[01:58:50] do

[01:58:51] you

[01:58:51] advocate

[01:58:52] doing

[01:58:53] everything

[01:58:53] I

[01:58:54] can

[01:58:54] the

[01:58:55] first

[01:58:55] thing

[01:58:55] that

[01:58:55] I

[01:58:55] did

[01:58:56] do

[01:58:56] was

[01:58:57] create

[01:58:57] social

[01:58:58] medias

[01:58:58] for

[01:58:58] my

[01:58:58] daughter

[01:58:59] I

[01:59:00] felt

[01:59:00] that it

[01:59:00] was

[01:59:01] extremely

[01:59:01] important

[01:59:02] to share

[01:59:03] her

[01:59:03] story

[01:59:03] because

[01:59:05] the

[01:59:05] loneliness

[01:59:05] that I

[01:59:06] felt

[01:59:06] when I

[01:59:07] got

[01:59:07] her

[01:59:07] diagnosis

[01:59:09] was a

[01:59:10] feeling

[01:59:10] that you

[01:59:11] just

[01:59:11] can't

[01:59:11] put

[01:59:12] into

[01:59:12] words

[01:59:12] especially

[01:59:13] when your

[01:59:14] medical team

[01:59:15] can't even

[01:59:15] support you

[01:59:16] in that

[01:59:16] moment

[01:59:18] so I

[01:59:19] share

[01:59:19] her

[01:59:19] stories

[01:59:20] and I

[01:59:20] share

[01:59:21] them as

[01:59:21] honestly

[01:59:22] as I

[01:59:22] can

[01:59:23] a lot

[01:59:24] of the

[01:59:24] posts

[01:59:24] are

[01:59:24] negative

[01:59:26] or

[01:59:26] you know

[01:59:27] they're

[01:59:27] talking

[01:59:27] about

[01:59:28] a

[01:59:28] struggle

[01:59:28] or a

[01:59:29] medical

[01:59:29] procedure

[01:59:29] she had

[01:59:30] to

[01:59:30] go

[01:59:31] through

[01:59:31] but

[01:59:32] it's

[01:59:33] real

[01:59:34] it's

[01:59:34] her

[01:59:35] life

[01:59:35] you know

[01:59:36] it's

[01:59:37] what we

[01:59:37] deal

[01:59:37] with

[01:59:37] on a

[01:59:38] day

[01:59:38] to

[01:59:38] day

[01:59:38] and

[01:59:39] you know

[01:59:40] battling

[01:59:40] Gervais

[01:59:41] syndrome

[01:59:41] is

[01:59:41] ugly

[01:59:42] there's

[01:59:43] nothing

[01:59:43] pretty

[01:59:43] about

[01:59:44] it

[01:59:44] so

[01:59:45] it

[01:59:45] was

[01:59:45] really

[01:59:46] important

[01:59:46] for me

[01:59:47] that I

[01:59:47] do

[01:59:47] not

[01:59:48] sugarcoat

[01:59:48] it

[01:59:49] and

[01:59:50] give

[01:59:50] others

[01:59:51] who

[01:59:51] may

[01:59:51] be

[01:59:51] finding

[01:59:52] her

[01:59:52] you know

[01:59:53] social

[01:59:54] media

[01:59:54] for the

[01:59:54] first

[01:59:55] time

[01:59:55] false

[01:59:56] expectations

[01:59:57] on how

[01:59:58] difficult

[01:59:59] the

[01:59:59] journey

[02:00:00] can

[02:00:00] be

[02:00:00] we

[02:00:01] do

[02:00:01] know

[02:00:01] that

[02:00:02] it's

[02:00:02] a

[02:00:02] spectrum

[02:00:02] but

[02:00:04] all

[02:00:04] I

[02:00:04] can

[02:00:04] do

[02:00:04] is

[02:00:04] tell

[02:00:05] her

[02:00:05] journey

[02:00:06] and

[02:00:06] her

[02:00:06] journey

[02:00:06] hasn't

[02:00:07] been

[02:00:07] very

[02:00:07] pretty

[02:00:08] so

[02:00:09] you know

[02:00:09] I hope

[02:00:10] that

[02:00:11] when people

[02:00:11] find it

[02:00:12] that

[02:00:12] they

[02:00:13] feel

[02:00:14] supported

[02:00:16] after

[02:00:17] you know

[02:00:17] doing

[02:00:18] social

[02:00:19] media

[02:00:19] I

[02:00:20] started

[02:00:20] to

[02:00:20] get

[02:00:20] more

[02:00:21] involved

[02:00:21] with

[02:00:21] Gervais

[02:00:22] syndrome

[02:00:22] the

[02:00:23] foundation

[02:00:23] itself

[02:00:24] becoming

[02:00:25] a

[02:00:25] volunteer

[02:00:26] becoming

[02:00:27] an

[02:00:27] ambassador

[02:00:28] getting

[02:00:29] involved

[02:00:29] in the

[02:00:30] online

[02:00:30] groups

[02:00:31] attending

[02:00:31] the

[02:00:32] day

[02:00:33] of

[02:00:34] Gervais

[02:00:34] the

[02:00:35] conferences

[02:00:35] and

[02:00:36] you know

[02:00:37] trying

[02:00:38] to be

[02:00:39] the

[02:00:40] support

[02:00:41] that I

[02:00:41] needed

[02:00:42] when I

[02:00:42] first

[02:00:43] got my

[02:00:43] daughter's

[02:00:44] diagnosis

[02:00:44] that I

[02:00:45] couldn't

[02:00:45] find

[02:00:45] so

[02:00:46] you know

[02:00:47] we just

[02:00:48] feed off

[02:00:49] each other

[02:00:49] and hope

[02:00:50] that

[02:00:51] we are

[02:00:52] loud enough

[02:00:53] to

[02:00:54] deserve

[02:00:55] a cure

[02:00:56] why do

[02:00:57] you feel

[02:00:57] it's

[02:00:57] important

[02:00:58] for parents

[02:00:58] and caregivers

[02:00:59] to attend

[02:01:00] the biennial

[02:01:00] conference

[02:01:01] the more

[02:01:02] you know

[02:01:03] the more

[02:01:03] you share

[02:01:04] I feel

[02:01:05] for me

[02:01:06] advocating

[02:01:07] for Eliana

[02:01:10] is really

[02:01:11] important

[02:01:11] because a

[02:01:12] lot of

[02:01:13] our children

[02:01:13] do not

[02:01:14] look like

[02:01:15] what they

[02:01:15] have been

[02:01:15] through

[02:01:15] I think

[02:01:17] you know

[02:01:17] it can

[02:01:19] be a

[02:01:19] blessing

[02:01:19] and a

[02:01:20] curse

[02:01:20] I

[02:01:21] all the

[02:01:22] time

[02:01:22] will have

[02:01:23] individuals

[02:01:23] tell me

[02:01:24] she doesn't

[02:01:24] look sick

[02:01:25] she looks

[02:01:26] so normal

[02:01:27] you know

[02:01:28] and

[02:01:29] they question

[02:01:32] the validity

[02:01:33] of her

[02:01:34] symptoms

[02:01:35] and they

[02:01:36] question

[02:01:37] how

[02:01:38] careful

[02:01:39] I am

[02:01:40] in different

[02:01:41] situations

[02:01:42] that may

[02:01:42] trigger

[02:01:42] her

[02:01:43] seizures

[02:01:43] and

[02:01:46] that's

[02:01:47] not

[02:01:47] okay

[02:01:49] I

[02:01:50] think

[02:01:50] the more

[02:01:52] attention

[02:01:52] we give

[02:01:53] to it

[02:01:54] the more

[02:01:55] validity

[02:01:56] it creates

[02:01:58] in the

[02:01:58] world

[02:01:58] I think

[02:01:59] the more

[02:02:00] we talk

[02:02:01] about it

[02:02:02] the more

[02:02:02] parents will

[02:02:03] ask questions

[02:02:04] when their

[02:02:04] child has

[02:02:05] seizures

[02:02:05] and we

[02:02:06] won't

[02:02:06] have

[02:02:06] so many

[02:02:08] families

[02:02:08] stating

[02:02:09] that they

[02:02:10] went years

[02:02:10] without

[02:02:11] a diagnosis

[02:02:12] we

[02:02:13] you know

[02:02:14] will be

[02:02:15] able to

[02:02:15] push

[02:02:16] for our

[02:02:16] insurances

[02:02:17] to give

[02:02:17] us the

[02:02:18] resources

[02:02:18] we need

[02:02:19] because

[02:02:19] it's not

[02:02:20] just

[02:02:20] seizures

[02:02:20] there's

[02:02:21] so much

[02:02:21] more

[02:02:22] than

[02:02:22] seizures

[02:02:23] I

[02:02:24] remember

[02:02:24] at the

[02:02:25] beginning

[02:02:25] of our

[02:02:26] journey

[02:02:26] about

[02:02:27] two

[02:02:27] years

[02:02:27] ago

[02:02:28] Eliana

[02:02:29] has

[02:02:30] very low

[02:02:31] muscle

[02:02:31] tone

[02:02:31] because

[02:02:32] of the

[02:02:32] seizures

[02:02:33] you know

[02:02:33] having one

[02:02:35] seizure

[02:02:35] it can

[02:02:36] be

[02:02:36] the

[02:02:36] equivalent

[02:02:37] of running

[02:02:37] a 5k

[02:02:38] in a

[02:02:39] very

[02:02:39] short

[02:02:39] time

[02:02:40] and it

[02:02:40] it just

[02:02:41] wears on

[02:02:41] your muscles

[02:02:42] she needed

[02:02:43] a back

[02:02:44] brace

[02:02:44] and I was

[02:02:44] told by

[02:02:45] insurance

[02:02:45] that that

[02:02:46] was a

[02:02:46] cosmetic

[02:02:46] name

[02:02:47] and they

[02:02:47] wouldn't

[02:02:47] cover it

[02:02:48] because

[02:02:49] it was

[02:02:49] only

[02:02:49] cosmetic

[02:02:50] it's

[02:02:51] cosmetic

[02:02:51] to have

[02:02:52] a back

[02:02:52] brace

[02:02:52] so that

[02:02:52] you can

[02:02:53] sit up

[02:02:53] by

[02:02:53] yourself

[02:02:54] and

[02:02:54] those

[02:02:55] are

[02:02:55] situations

[02:02:56] that we

[02:02:56] shouldn't

[02:02:57] have to

[02:02:57] fight

[02:02:57] for

[02:02:58] but the

[02:02:58] reason

[02:02:59] why we

[02:02:59] fought for

[02:03:00] it was

[02:03:00] because

[02:03:01] on her

[02:03:02] medical

[02:03:02] paperwork

[02:03:03] she has

[02:03:04] epilepsy

[02:03:04] and epilepsy

[02:03:06] has nothing

[02:03:07] to do

[02:03:07] with not

[02:03:08] being able

[02:03:09] to sit

[02:03:09] up

[02:03:09] so anything

[02:03:11] we ask

[02:03:11] for was

[02:03:11] considered

[02:03:12] cosmetic

[02:03:12] so we

[02:03:14] have to

[02:03:14] learn

[02:03:16] how

[02:03:16] to

[02:03:17] communicate

[02:03:18] Jervais

[02:03:18] the wording

[02:03:20] the

[02:03:21] reasoning

[02:03:23] behind

[02:03:23] the

[02:03:24] comorbidities

[02:03:24] that we're

[02:03:25] exposed to

[02:03:26] when we're

[02:03:27] in these

[02:03:27] conferences

[02:03:28] when we're

[02:03:28] speaking

[02:03:29] with the

[02:03:29] researchers

[02:03:30] and the

[02:03:31] medical

[02:03:31] providers

[02:03:31] you know

[02:03:32] we have

[02:03:34] to fill

[02:03:35] ourselves

[02:03:35] with as

[02:03:36] much

[02:03:36] information

[02:03:37] that we

[02:03:38] possibly

[02:03:38] can

[02:03:39] so that

[02:03:40] we can

[02:03:41] go into

[02:03:42] our therapy

[02:03:43] meetings

[02:03:43] our doctor's

[02:03:44] appointments

[02:03:45] our ER

[02:03:46] visits

[02:03:46] and help

[02:03:48] them figure

[02:03:49] out how

[02:03:50] to treat

[02:03:50] our kid

[02:03:50] because most

[02:03:51] of the world

[02:03:52] doesn't know

[02:03:52] what Jervais

[02:03:53] is

[02:03:53] so we

[02:03:54] have to

[02:03:54] be our

[02:03:55] own

[02:03:55] advocate

[02:03:56] and our

[02:03:57] own

[02:03:57] specialist

[02:03:58] for our

[02:03:58] own

[02:03:58] child

[02:03:59] what have

[02:04:00] you

[02:04:00] discovered

[02:04:00] about

[02:04:01] yourself

[02:04:01] that you

[02:04:02] didn't

[02:04:02] expect

[02:04:02] the

[02:04:03] ability

[02:04:05] to

[02:04:06] morph

[02:04:07] into

[02:04:07] the

[02:04:08] provider

[02:04:09] that my

[02:04:09] child

[02:04:10] needed

[02:04:10] I think

[02:04:11] you know

[02:04:12] as a

[02:04:12] parent

[02:04:12] and for

[02:04:14] those who

[02:04:14] want to

[02:04:15] be parents

[02:04:16] we have

[02:04:17] expectations

[02:04:18] on what

[02:04:18] kind of

[02:04:18] parent

[02:04:19] we're

[02:04:19] going to

[02:04:19] be

[02:04:19] the

[02:04:20] lifestyle

[02:04:21] we're

[02:04:21] going to

[02:04:21] create

[02:04:21] for our

[02:04:22] children

[02:04:22] what career

[02:04:24] we want

[02:04:24] and we

[02:04:26] kind of

[02:04:26] pre-plan

[02:04:27] it

[02:04:27] you know

[02:04:28] we're

[02:04:28] confident

[02:04:29] in who

[02:04:29] we are

[02:04:30] and what

[02:04:31] our

[02:04:31] personality

[02:04:32] is

[02:04:32] and what

[02:04:33] we like

[02:04:33] what we

[02:04:33] don't

[02:04:34] like

[02:04:34] and

[02:04:36] when my

[02:04:37] daughter

[02:04:37] got her

[02:04:38] diagnosis

[02:04:40] all of that

[02:04:41] was just

[02:04:41] ripped from

[02:04:42] me

[02:04:42] I lost

[02:04:43] my career

[02:04:44] that I

[02:04:45] had

[02:04:45] went to

[02:04:46] college

[02:04:46] for

[02:04:46] that I

[02:04:47] you know

[02:04:48] had

[02:04:48] worked in

[02:04:49] the industry

[02:04:49] for over

[02:04:51] 10 years

[02:04:52] to fight

[02:04:53] for the

[02:04:53] place that

[02:04:53] I wanted

[02:04:54] to be

[02:04:54] in

[02:04:54] because

[02:04:56] of

[02:04:57] all of

[02:04:58] her needs

[02:04:59] and the

[02:04:59] constant

[02:04:59] hospitalization

[02:05:00] I

[02:05:03] was

[02:05:03] thrown

[02:05:04] into this

[02:05:05] medical

[02:05:05] role

[02:05:06] of playing

[02:05:07] nurse

[02:05:08] when I

[02:05:09] was

[02:05:09] absolutely

[02:05:09] terrified

[02:05:10] of blood

[02:05:11] and bodily

[02:05:13] fluids

[02:05:13] and all

[02:05:14] of those

[02:05:14] things

[02:05:19] um

[02:05:20] but

[02:05:21] I

[02:05:22] didn't

[02:05:22] have

[02:05:22] a choice

[02:05:23] because

[02:05:24] I

[02:05:24] was

[02:05:25] forced

[02:05:25] to be

[02:05:26] the

[02:05:26] caregiver

[02:05:26] you

[02:05:27] don't

[02:05:27] get

[02:05:27] a

[02:05:27] diagnosis

[02:05:28] and

[02:05:28] they're

[02:05:29] like

[02:05:29] hey

[02:05:29] here's

[02:05:30] the

[02:05:30] nurse

[02:05:30] that

[02:05:30] comes

[02:05:31] along

[02:05:31] with

[02:05:31] her

[02:05:32] you

[02:05:32] are

[02:05:32] the

[02:05:33] nurse

[02:05:33] I

[02:05:34] had

[02:05:34] to

[02:05:36] reconsider

[02:05:36] everything

[02:05:37] create

[02:05:38] a new

[02:05:38] life

[02:05:39] plan

[02:05:39] create

[02:05:40] a new

[02:05:40] vision

[02:05:42] for

[02:05:43] both

[02:05:43] me

[02:05:43] and

[02:05:44] her

[02:05:44] siblings

[02:05:45] so

[02:05:45] that

[02:05:45] we

[02:05:46] could

[02:05:46] figure

[02:05:47] out

[02:05:47] how

[02:05:48] to

[02:05:49] live

[02:05:49] life

[02:05:50] with

[02:05:51] this

[02:05:51] condition

[02:05:51] because

[02:05:53] it

[02:05:53] completely

[02:05:54] just

[02:05:55] took

[02:05:56] us

[02:05:56] for

[02:05:56] a

[02:05:56] whirlwind

[02:05:57] you

[02:05:58] know

[02:05:59] in

[02:05:59] the

[02:05:59] process

[02:06:00] of

[02:06:00] changing

[02:06:00] career

[02:06:01] paths

[02:06:02] to

[02:06:02] find

[02:06:02] a

[02:06:03] career

[02:06:03] that

[02:06:03] would

[02:06:03] support

[02:06:04] and

[02:06:05] give

[02:06:05] me

[02:06:05] flexibility

[02:06:06] to

[02:06:06] continue

[02:06:08] to

[02:06:08] take

[02:06:08] care

[02:06:49] it. I couldn't touch it. And the surgeon sat me down and he said, listen, you have to do this.

[02:06:58] Stop thinking about yourself. Stop worrying about what could happen, what can't happen.

[02:07:06] This is your job. And I had to figure it out. So it's amazing to think that when you change

[02:07:14] your perspective of what you're scared of, what you don't like, what you do like,

[02:07:22] you can truly recreate and reinvent yourself into the person that you need to be in that moment.

[02:07:31] It's just, you know, the equivalent of a chapter book. The first three chapters, you were this,

[02:07:37] you know, wonderful character that you always imagine and you flip a page and now you got a

[02:07:46] completely new role. So being able to transform in that way, even if you're not faced with a medical

[02:07:55] decision, I think is a strength that many of us don't believe we have the ability to do. We don't

[02:08:04] think that we can reinvent ourselves no matter what age, no matter where we are in life, we can

[02:08:10] start over. And that's, that's what we're doing. What message do you have for a family with a newly

[02:08:17] diagnosed child? It's okay to feel, feel your emotions. You are going to cry. You are going to

[02:08:26] be angry some days. You're going to be frustrated. You're going to be overwhelmed. You don't have to

[02:08:33] fake the optimism. Some days it's just going to suck. And that is okay to feel it, but you have to feel

[02:08:42] all of the emotions so that you're able to truly embrace the small things. There's always going to be

[02:08:51] the smallest thing that shows progress or that shows stability. But if you are drowning in your

[02:09:02] emotions and trying to hide those negative feelings, you're never going to see it. Do you have a thank

[02:09:09] you note or a shout out for someone? I think that one of the individuals in

[02:09:17] Gervais Syndrome Foundation that inspired me was Veronica Hood. I remember when she first heard her

[02:09:24] story about losing her little man and how she continued and she vowed that she was going to

[02:09:35] get her PhD in the middle of dealing with grief. And she was focused on helping others find

[02:09:44] a solution so that they don't lose their warriors. And that is a strength that I can't even imagine.

[02:09:53] I can't imagine what it feels like to lose your child, but to do that in the middle of

[02:10:02] getting your PhD because you promised it to him and to show that strength and resilience and,

[02:10:11] you know, be out here making a difference for families. And I can't count how many times I've

[02:10:18] been like, I don't know what to do. And she, you know, has been a shoulder to cry on for me.

[02:10:27] It reminds me that no matter what you're facing, you can still move forward. And so,

[02:10:35] I'm always thankful for her and all of the, you know, connections that she makes in our field to,

[02:10:42] you know, get us providers and clinicians and researchers to help us find a cure. So without

[02:10:49] her, you know, we wouldn't have probably most of these clinical trials that we're hearing about

[02:10:55] today at the conference. So I'm very thankful for her.

[02:10:58] Please introduce yourself and your warrior.

[02:11:01] Yeah. My name is Ted Odlog. I'm the president of the Dervais Foundation board and my granddaughter,

[02:11:08] Anna, has Dervais syndrome.

[02:11:10] This year, Dervais Syndrome Foundation celebrates its 15th anniversary. What message do you have for DSF?

[02:11:16] Well, the message is become aware of Dervais syndrome. Support us if you can. And so we can support

[02:11:28] families and fund research. What's been the highlight of the conference so far?

[02:11:32] I would say the meeting, meeting families with, with the Dervais child and seeing how engaged they

[02:11:41] are and learning new things about how they can help their child. That's pretty motivating to me and

[02:11:48] makes me want to do more for my granddaughter.

[02:11:51] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[02:11:57] Well, because we all need to learn and we can learn from each other. We can learn from the experts.

[02:12:05] And sometimes doing that face-to-face is a lot more productive than trying to do it virtually.

[02:12:13] So what have you discovered about yourself that you didn't expect?

[02:12:17] Well, I don't consider myself really that much of a people person, but this kind of has helped me get out of my shell a little bit and interact with others.

[02:12:32] What message do you have for a family with a newly diagnosed child?

[02:12:35] Well, that, that's an easy one. I think as soon as you can, besides connecting with an expert in the field,

[02:12:44] connect with other families who have a child and you can really learn a lot from them.

[02:12:49] I know my, my daughter-in-law, she accesses our Facebook support group all the time.

[02:12:57] And she can learn things that are working and things that aren't working for others' loved ones.

[02:13:04] Do you have a thank you note or a shout out you'd like to make?

[02:13:08] Oh, I guess I would, I would thank my brother-in-law, Jim Brennan, who has helped us in doing fundraising for the foundation.

[02:13:16] We've raised over $2.1 million for the foundation over the last five years.

[02:13:23] And a big part of that is because of him helping me in, in, in those efforts.

[02:13:30] Please introduce yourself and your warrior.

[02:13:32] Sure.

[02:13:33] So my name is April Fontaine. My daughter's name is Julia. She's 12.

[02:13:37] So this year, Durave Syndrome Foundation celebrates its 15th year anniversary.

[02:13:42] What message do you have for DSF?

[02:13:44] Just thank you for advancing the science and giving us a bit more hope.

[02:13:50] What's been the highlight of the conference so far?

[02:13:52] For me, it's, it's, this is my third conference.

[02:13:55] For me, I'd say it's about making the connections with other parents.

[02:14:00] I have a great epileptologist who keeps us apprised of new science and new research and drug trials and like sort of the technical stuff I really get.

[02:14:12] But making the connection with other parents is always, it's really why I come.

[02:14:18] What message do you have for a family with a newly diagnosed child?

[02:14:22] One day at a time.

[02:14:23] It's all you can do. Put one foot in front of the other.

[02:14:27] Why do you feel it's important for parents and caregivers to attend the Biennial Conference?

[02:14:31] While we all have friends outside of this community, there's nobody else in the world who gets, who gets the feelings and the angst and the excitement and the drama and the, just all the emotions that go with us.

[02:14:45] Even other special needs parents in different communities don't, don't get what, what we go through as parents and how.

[02:14:53] So it's just very isolating.

[02:14:54] What have you discovered about yourself that you didn't expect?

[02:14:57] I'm not normally, like I'm a scientist at heart.

[02:15:00] And so I'm very, a lot of black and white about things.

[02:15:02] And coming here, it's, it's, it breaks my heart to see other people's kids.

[02:15:08] Like I don't cry when my own kid has a seizure.

[02:15:10] If I see somebody else, I'm like, oh, I'm so sorry.

[02:15:13] So it, it, this brings out a side of me that I don't usually let out, I guess.

[02:15:20] And so, and not purposely, not because there's anything wrong with it, but just, I've learned to compartmentalize my own life.

[02:15:27] It's, it is nearly impossible to do that here because it's, it all intersects so much.

[02:15:33] What do you wish you knew sooner?

[02:15:34] We've been fairly educated the whole way.

[02:15:37] And so the power of the connection, the power, the need for these sorts of interactions.

[02:15:44] We took my daughter to, to our first conference and it was, I didn't get nearly as much, I'll just say filling my cup from it.

[02:15:50] Cause I was always worried about her.

[02:15:52] Is she being too disruptive?

[02:15:53] Is she, um, you know, just you're torn.

[02:15:57] And so, um, being present and, um, and really recognizing that even though this is hard for, for folks to come to, um, that the benefits are outweigh the costs in, in every aspect.

[02:16:14] Do you have a thank you note or a shout out for anyone?

[02:16:17] The strongest connections I have made, um, have like there's, there's a group of us kind of with very similar kids.

[02:16:25] Um, that really, um, I get so much from my friendships with them and I know that I could reach out to them at any time.

[02:16:34] Um, and so, um, it's Amy, it's Morgan, it's Megan.

[02:16:38] It's, um, there's, there's a whole host of folks that just, that are people you feel that instant connection with.

[02:16:46] And, um, and so that's just, it's really, you know, they're the folks who use sarcasm to cope.

[02:16:52] They're the folks who, you know, say inappropriate things about their kids.

[02:16:57] They are my, they are, they are my people.

[02:17:01] Please introduce yourself and your warrior.

[02:17:04] Hi, my name is Brooke Swenson and our Dravet warrior is Benson Sanford.

[02:17:09] This year, Dravet Syndrome Foundation celebrates its 15th anniversary.

[02:17:13] What message do you have for DSF?

[02:17:15] They've come a long ways from what we've learned about the gene and they have done an amazing work networking.

[02:17:24] They've done amazing with care and knowledge and guiding us as parents and caregivers of just the resources they've, they have developed.

[02:17:37] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[02:17:44] Just to meet other people and to see the, the community that we're not alone.

[02:17:51] And that we, that there's, um, there's different spectrums and different levels of Dravet we've learned.

[02:18:01] And not every Dravet case is the same, even though it's, it is the same.

[02:18:06] So to come here and just to know, like I said, like we're just not alone.

[02:18:14] What have you discovered about yourself that you didn't expect?

[02:18:19] Um, before we had our son, I was, um, I worked for the post office as a real carrier and I never would really take a vacation, never would do anything.

[02:18:29] And, um, I ended up quitting my job within a week because no daycare would take our son because he was diagnosed as epileptic at four months old.

[02:18:38] So then I've learned like how to stay home, how to care for him.

[02:18:45] And like, life is too short just to not be there for each other.

[02:18:51] What do you wish that you knew sooner?

[02:18:53] Um, that there's different types of epileptic.

[02:18:56] I, I never knew that.

[02:18:57] I knew epilepsy was a thing, but I never knew like there was different genes that associated with it until we got diagnosed, until our son got diagnosed.

[02:19:05] What message do you have for a family with a newly diagnosed child?

[02:19:09] Don't be afraid to, um, ask others, reach out.

[02:19:14] Um, there's a Facebook page that a lot of people are part of.

[02:19:18] Um, don't be afraid to be the voice for your child.

[02:19:22] You know them the best.

[02:19:25] Do you have a thank you note or a shout out for anyone?

[02:19:28] We are very thankful.

[02:19:30] Like the conference was here in Minnesota as we just live like an hour away.

[02:19:34] Um, unfortunately we weren't able to make it yesterday to see Dr. Whirl who we really, who guides us and our son.

[02:19:43] But we're very thankful for the doctors and the nurses and everyone that has cared for our family.

[02:19:50] And then we're very thankful to be here today and be part of the conference.

[02:19:55] Please introduce yourself and your warrior.

[02:20:01] Okay.

[02:20:01] So my name is Brittany Burns.

[02:20:03] Um, and I am the mother of a two-year-old Jervais warrior.

[02:20:07] Um, her name is Joanna.

[02:20:08] Um, she actually is, has one A, two A, and three deletions all in that chromosome two.

[02:20:14] Um, as far as I know, she's one of the oldest living patients in the United States right now with that many deletions.

[02:20:22] Um, and she's just our little miracle baby.

[02:20:24] Her neurologist didn't expect her to live past, past one year old.

[02:20:28] Um, she's, she's just amazing and continues to blow us out of the water every day.

[02:20:34] This year, Jervais Syndrome Foundation celebrates its 15th anniversary.

[02:20:38] What message do you have for DSF?

[02:20:41] Um, thank you for being there and thank you for providing hope, um, in the beginning and through over the last couple of years when, you know, I didn't, I didn't have any hope myself.

[02:20:52] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[02:20:56] Well, I'm going to be honest, the information that is presented is absolutely amazing.

[02:21:00] But the fellowship and meeting the other families and just knowing that you're not alone in this and then seeing the older kids and the, and, and just the accomplishments that some of these warriors have, have made.

[02:21:13] It really just provides, you know, again, the word hope, but just provides the hope, you know, that I think it restores, it restores my soul when I go back home to a place where I don't have those connections or people who understand what I'm going through.

[02:21:26] What have you discovered about yourself that you didn't expect?

[02:21:28] Um, I discovered that I can handle pretty much anything.

[02:21:33] Um, I, I, I've learned that I am so much stronger than I ever thought I could be.

[02:21:39] And that, um, you know, when, when the times get tough, you just step up and you just handle business.

[02:21:45] And what do you wish you knew sooner?

[02:21:47] I wish that I knew, um, earlier on, I guess how, how precious, um, her life was and that maybe I could have, um, appreciated the milestones earlier on.

[02:22:00] Then, um, you know, every time we'd go to a neurology appointment, they'd be like, she's looking so good, you know, and I have two neurotypical children.

[02:22:06] So I was like, I leave and I'm feeling defeated.

[02:22:08] And just like, are we looking at the same kid?

[02:22:11] Like, you know, and that makes, probably makes me sound like a horrible mother, but it wasn't until he said, you know, I didn't think she'd make it to a year.

[02:22:19] And, uh, that I was like, oh my gosh, I wasted the last year of her life, not appreciating, um, you know, everything that she's done.

[02:22:27] And, and, and, and the just amazingness that is, that is Joanna.

[02:22:32] What message do you have for a family with a newly diagnosed child?

[02:22:35] Um, get out there, talk to as many people as you can appreciate the little things because every milestone, or I like to call them re-milestones, um, is just absolutely amazing.

[02:22:45] And just hug your babies, uh, all the babies, especially the ones, you know, that aren't promised even five minutes from now.

[02:22:53] Do you have a thank you note or a shout out for anyone?

[02:22:56] Um, I would say really just everybody in, um, in this group has just absolutely been, um, amazing and welcoming, um, just to share their journeys and in their, um, hardships with this, with this beautiful journey we're on.

[02:23:13] Please introduce yourself and your warrior.

[02:23:15] Hi, my name is Melanie Kanzerski and my warrior is Rosie and she is three and a half.

[02:23:21] This year, the Gervais Syndrome Foundation celebrates its 15th anniversary.

[02:23:25] What message do you have for DSF?

[02:23:27] Thank you.

[02:23:27] When we were first diagnosed, it's scary.

[02:23:31] And I'm so lucky that our neurologist knew to direct us to the Gervais Syndrome Foundation.

[02:23:37] And from there, I was able to access all of the amazing doctors that are doing all of the research.

[02:23:43] And I've learned that there are actual comprehensive Gervais treatment centers, 16 of them across the U.S.

[02:23:49] And we were lucky enough to get her in with one of those.

[02:23:53] And that was a huge game changer.

[02:23:54] So they have made an amazing path for newly diagnosed families.

[02:24:01] And I am forever indebted to them.

[02:24:03] Why do you feel it's important for parents and caregivers to attend the biennial conference?

[02:24:07] The isolation of having a child with a rare disorder, especially a rare disability like this, it's isolating.

[02:24:16] And it can be profoundly isolating.

[02:24:19] So the fact that we're able to get together and connect and be seen and we are validated in all of the complex emotions that come along with a diagnosis like Gervais.

[02:24:30] And the dark humor is understood and not looked at weird.

[02:24:37] So I feel like that mask that you wear to make other people comfortable with your child's disability, you don't have to wear it here.

[02:24:44] And it's just refreshing.

[02:24:46] How do you advocate?

[02:24:48] I advocate hard.

[02:24:50] And I'm a force to be reckoned with.

[02:24:52] Actually, I live in Indiana.

[02:24:54] And there were some things going on with the parent caregiver program there.

[02:24:57] And I was invited by the lieutenant governor to do a press conference with her.

[02:25:02] And I shared our story.

[02:25:03] And I advocate hard for my child in medical settings and anyone that I can, not just for her.

[02:25:08] But I want to make a better path for the next family.

[02:25:12] Doesn't have to fight as hard as I do.

[02:25:14] What have you discovered about yourself that you didn't expect?

[02:25:17] Oh, a lot of things.

[02:25:20] I realize that I'm stronger than I thought I was going, that I was.

[02:25:25] And that I'm not afraid.

[02:25:28] And I'm not afraid anymore.

[02:25:30] And I will ask the questions.

[02:25:32] And I also, this is my favorite Eleanor Roosevelt quote, and I live by this now, is I don't let anybody that doesn't have the power to say yes, tell me no.

[02:25:40] And that's something that I had to dig deep inside and just, I live by that now.

[02:25:45] So I don't want anybody who doesn't have the power to say yes, tell me no.

[02:25:48] What do you wish you would have known sooner?

[02:25:50] Suit up.

[02:25:51] I don't think suit up should be gatekept.

[02:25:53] It's hard to talk about, but it's harder when I hear about families who lost their child and then found out about suit up.

[02:25:59] And that's not fair.

[02:26:00] So as hard as the conversations are to talk about that, they're conversations that need to be had.

[02:26:05] What message do you have for a family with a newly diagnosed child?

[02:26:09] It's going to be difficult.

[02:26:11] And it's going to be hard.

[02:26:13] And this is not something I would wish on to anyone.

[02:26:16] Like, I hate the club, but I love the members.

[02:26:18] And there's a huge family here to support you.

[02:26:21] And I remember when we were first diagnosed, I just put in the search bar on Instagram, Gervais syndrome.

[02:26:28] And I met some really incredible moms that encouraged me and directed me.

[02:26:32] And one of them, she's my best friend now.

[02:26:36] And we have never met in person, but I hope that'll change soon.

[02:26:40] Do you have a thank you note or a shout out for anyone?

[02:26:44] Marianne.

[02:26:46] Her determination to set all of this up, to just get the ball rolling.

[02:26:50] She's our hero.

[02:26:52] And I'm just so grateful that she was able to start the foundation and really start to put together the foundation to be where we are now.

[02:27:03] So that's my biggest shout out is that Marianne was able to do all of this.

[02:27:08] It's really incredible.

[02:27:10] Please introduce yourself and your warrior.

[02:27:13] My name is Melissa O'Brien.

[02:27:15] My warrior is Owen.

[02:27:16] He is 11, just turned 11 on the 20th.

[02:27:20] So super excited.

[02:27:22] He's wonderful.

[02:27:24] This year, Gervais Syndrome Foundation celebrates its 15th anniversary.

[02:27:27] What message do you have for DSF?

[02:27:29] Thank you.

[02:27:31] Without them, I'm a parent ambassador, but without DSF, we wouldn't be where we are.

[02:27:36] The research that they're doing, connecting the families.

[02:27:39] The support is until you have a child with this specific disability or a specific disability, you just don't understand how difficult it can be to connect with people.

[02:27:50] And that's been the biggest part of this is the connections we've made.

[02:27:54] What do you feel it's important for parents and caregivers to attend the biennial conference?

[02:27:59] Even if you can't make it into the panels, which are so impactful, just again, the parent connections, finding this is the first year my son's been able to attend and his little brother.

[02:28:09] And the difference for them, my son is seeing kids that are just like him.

[02:28:14] And his sibling is seeing kids that are just like him.

[02:28:17] And it's amazing.

[02:28:18] So understanding that there are people that get it, you know, when you have a severe disability, sometimes the medical aspect of it, people just can't understand it.

[02:28:27] I mean, there was a time in our life where there was an ambulance at our house every week.

[02:28:30] That was the norm for our kids.

[02:28:31] And to be here where kids just get it and understand it, it's so important.

[02:28:36] And the family support, we had several seizures yesterday and just the rally around the family so that they could just breathe and not feel that shame or that embarrassment that sometimes accompanies us when we're out and those things happen.

[02:28:50] It's just important.

[02:28:53] What have you discovered about yourself that you didn't expect?

[02:28:56] I'm stronger than I thought.

[02:28:59] We have two older boys and two younger boys.

[02:29:02] And our older boys, I, you know, I was in my mid-20s when I had my first set of children.

[02:29:07] We call them sets.

[02:29:08] And I'm in my 40s now with Owen, our warrior.

[02:29:12] And the strength and the advocacy that I didn't know was a part of who I was that I found and been able to rally for him in all aspects has been so empowering for me.

[02:29:23] It's led me to run for school board.

[02:29:25] It's led me to just develop that in other ways to be able to speak for people when they aren't able to speak for themselves until they find that strength in themselves.

[02:29:33] And I didn't know that was something that I would enjoy so much and something that was so special to me.

[02:29:39] What do you wish you knew sooner?

[02:29:41] Oh, that it's okay not to be okay.

[02:29:43] That's such a cliche thing to say.

[02:29:45] But we spend so much time just trying to just kind of get through.

[02:29:50] And I wish I would have understood that we can grieve for the moments that we're losing to and still move on.

[02:29:55] And it's okay.

[02:29:56] There's going to be different stages.

[02:29:57] We still experience them.

[02:29:58] Our son is 11.

[02:29:59] And the last conference we attended, my husband and I both, it hit us that he may never get married.

[02:30:06] That was something we'd never considered because he was little.

[02:30:10] But just the thought of we might not have that experience with him.

[02:30:13] We might not have it with any of our kids, but it didn't hit us that way.

[02:30:16] Just that it's okay to grieve and then just try to keep going.

[02:30:20] What message do you have for a family with a newly diagnosed child?

[02:30:24] Reach out.

[02:30:25] Please reach out.

[02:30:26] If you aren't comfortable on social media, if you're not on Facebook and you're not connected with the parent group, reach out to Gervais Syndrome Foundation.

[02:30:34] Get connected.

[02:30:35] I know my region that I'm from, I'm in the West region as a parent ambassador, but I'm from the state of Alaska.

[02:30:41] And there's only four families that are connected.

[02:30:43] And so I just remember feeling so isolated and alone.

[02:30:46] And when I found that connection, even if it's through social media, even if it's through a text of somebody that I connected with, it was so impactful and so empowering.

[02:30:55] Because you will experience struggles all along the way.

[02:30:59] And somebody out there has experienced the same struggle.

[02:31:01] And it's so helpful to find somebody who gets it.

[02:31:04] Just somebody who understands.

[02:31:05] So please know you're not alone and reach out for support.

[02:31:09] Do you have a thank you note or a shout out for anyone?

[02:31:12] Oh, gosh.

[02:31:13] My, you know, there's a, I think all the moms, there's this connection that we all have.

[02:31:18] And now it's so wonderful because there are dads joining the group, which wasn't typical when we first started, but just this family atmosphere.

[02:31:27] So I think just everybody that keeps showing up, that makes this a priority, that shows up for not just their kids, but our kids.

[02:31:35] We have families that have lost their warrior that still continue to show up.

[02:31:39] And I just, I appreciate so much.

[02:31:41] So everything this community is given.

[02:31:45] Please introduce yourself and your warrior.

[02:31:47] Hi, my name is Gloria Rodriguez.

[02:31:49] And my, my warrior.

[02:31:53] She is Grace Rodriguez.

[02:31:55] She's 11 years old.

[02:31:56] This year, Gervais Syndrome Foundation celebrates its 15th anniversary.

[02:32:00] What message do you have for DSF?

[02:32:02] Thank you.

[02:32:03] Without crying, I can't say thank you enough.

[02:32:06] Why do you feel like it's important for parents and caregivers to attend the biennial conference?

[02:32:12] It's hard to attend because the information that you get, while it's so valuable and you can learn so much about ways to better take care of your child, how to advocate for your child.

[02:32:23] It's hard information because our kids live a hard life.

[02:32:28] That means caregivers live a hard life.

[02:32:30] So the more prepared we are, the better prepared we are, the better our child's quality of life can be.

[02:32:41] And that's the most important thing is, you know, maybe we have to live with seizures.

[02:32:46] Maybe we have to live with all the comorbidities that come along with Drevet syndrome.

[02:32:50] But as caregivers, we can learn as much as we can to give our child a better quality of life.

[02:32:57] And then it's not a struggle.

[02:32:59] What have you discovered about yourself that you didn't expect?

[02:33:03] That I can do things that I never thought I could.

[02:33:07] That I never imagined that I would ever do.

[02:33:10] That I would cuss people out.

[02:33:13] That in the past, I would have just said, okay, and walked away.

[02:33:18] But I've made some threats.

[02:33:21] And they were all meant.

[02:33:23] Every single one of them.

[02:33:24] And I think they knew it.

[02:33:26] So, you know.

[02:33:27] What do you wish you knew sooner?

[02:33:28] I wish we had a diagnosis sooner.

[02:33:31] Oh my gosh.

[02:33:32] Early diagnosis is so important.

[02:33:35] It's so important.

[02:33:36] And it's unfortunate that a lot of these medications have this age limit of two and up.

[02:33:42] Because the first year of life is the worst year of life sometimes.

[02:33:47] And then the rest of their life, they live with what happened in the first year of life.

[02:33:53] And so, oh my gosh, the earlier you can be diagnosed, your family.

[02:33:59] It's not, well, your child.

[02:34:01] It's not about me.

[02:34:02] Nothing's ever about me.

[02:34:03] It's all about grace.

[02:34:05] It's all about the kids.

[02:34:06] Right?

[02:34:07] So the earlier they can get diagnosed, the better it can be for the whole family.

[02:34:13] And you can do whatever you need for them.

[02:34:16] What would your message be to a family who's newly diagnosed?

[02:34:19] Get ready for a roller coaster ride that you never wanted to ride.

[02:34:23] You didn't want to wait in line.

[02:34:25] But guess what?

[02:34:26] There's no line.

[02:34:27] And you get to ride for free.

[02:34:30] But the ride's going to suck.

[02:34:32] It's going to suck so hard.

[02:34:35] You need five extra seatbelts.

[02:34:37] And just put your hair back.

[02:34:40] Hold on tight.

[02:34:41] You're not going to die.

[02:34:42] There are days that you wish that you would die.

[02:34:45] Because you can't do it anymore.

[02:34:47] Or you think you can't.

[02:34:48] But you can.

[02:34:49] And then you get off the ride and you're like, let's do this again.

[02:34:54] Because you proved to yourself, you know, maybe you thought you were scared of roller coasters.

[02:34:59] But you just have to take the ride.

[02:35:01] Do you have a thank you note or a shout out for anyone?

[02:35:04] My husband, Ascension, I couldn't do any advocating without him.

[02:35:10] Grace's sister, Maddie.

[02:35:12] Couldn't do anything without both of them.

[02:35:14] We're a team of three.

[02:35:15] We're three warriorettes right behind Grace, I guess you could say.

[02:35:22] And Dr. Melissa Jones at Houston Area Pediatric Neurology.

[02:35:26] She was our fifth neurologist.

[02:35:29] And Dr. Perry at Cook Children's.

[02:35:33] I hope you've been enjoying this podcast.

[02:35:36] If you like what you hear, please share this show with your people.

[02:35:40] And please make sure to rate and review it on iTunes or wherever you get your podcasts.

[02:35:45] You can also head over to Instagram, Facebook, and Twitter to connect with me and stay updated on the show.

[02:35:51] If you're interested in sharing your story or if you have anything you would like to contribute, please submit it to my website at effieparks.com.

[02:36:00] Thank you so much for listening to the show and for supporting me along the way.

[02:36:03] I appreciate you all so much.

[02:36:05] I don't know what kind of day you're having, but if you need a little pick-me-up, Ford's got you.

[02:36:11] I don't know what kind of day you're having, but if you have anything you want to know.

[02:36:12] I don't know what kind of day you're having, but...

[02:36:15] I really don't know what kind of day you're having.

[02:36:28] You haven't been enjoying yourself forever.

[02:36:30] You can't see you.

[02:36:31] I'm going to have a great day.

[02:36:31] I love you.

[02:36:31] I love you.

[02:36:32] You