Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio

[00:00:00] I'm Effie Parks. Welcome to Once Upon A Gene, a podcast. This is a place I created for

[00:00:09] us to connect and share the stories of our not so typical lives. Raising kids who are

[00:00:15] born with rare genetics and drones and other types of disabilities can feel pretty isolating.

[00:00:20] What I know for sure is that when we can hear the triumphs and challenges from others who get it,

[00:00:26] we can find a lot more laughter, a lot more hope and feel a lot less alone. I believe there are

[00:00:32] some magical healing powers that can happen for all of us through sharing our stories

[00:00:37] and I'll take all the help I can get.

[00:00:43] Once Upon A Gene is proud to be part of bloodstream media, living in a family affected by rare

[00:00:49] and chronic illness can be isolating and sometimes the best medicine is connecting to the voices

[00:00:54] of people who share your experience. This is why bloodstream media produces podcast blogs and other

[00:01:00] forms of content for patients, families and clinicians impacted by rare and chronic diseases.

[00:01:06] Visit bloodstreammedia.com to learn more. Hello friends, welcome to the show. This is Once Upon A Gene

[00:01:11] and I'm your host Effie Parks and I kind of feel like Carmen San Diego right now.

[00:01:17] I am jet setting from one impactful event to another already this year. As this episode airs,

[00:01:24] I'm wrapping up a little visit and workshop hosted by the one and only Alexian and patient

[00:01:30] authentic from Boston and then I'll be heading off world orphan drug with my friends at GDX

[00:01:35] to talk about genetic testing fingers crossed for a stop at the million dollar bike ride in Philly

[00:01:40] of child care lines CTNNB1 has been chosen as one of the teams and we're so excited. Stay tuned

[00:01:47] for a follow up little episode about the million dollar bike ride and then I'm going to join forces

[00:01:51] with my friends at Drove in Minnesota for their conference and then I am going to Slovenia

[00:01:58] for the CTNNB1 International Research Conference. So lots of stuff happening in the next couple months

[00:02:04] over here. I can't wait to see so many of your faces. It's like the brightest spot of this community.

[00:02:10] I love it so much. Okay, so I hope that by mentioning Carmen San Diego all of you have

[00:02:16] that tune stuck in your head for the rest of the day. But not before you listen to today's

[00:02:20] episode where I get to speak with two rad women who are doing groundbreaking work at the rare

[00:02:25] epilepsy network also referred to as Ren. So I'm thrilled to welcome these two women and they

[00:02:32] are so full of energy and you better get a piece of paper and a pen out because you're going to

[00:02:36] learn a lot. Their bios are really extensive. They've both been founders and co-founders and

[00:02:40] they counsel and all around badasses. So if you want to learn more about them go to the rare

[00:02:45] epilepsy network dot org, click the about page and read all about them because they are just

[00:02:50] doing incredible work. So without further ado let's get into this episode. Please welcome my

[00:02:56] special guests, Eileen Miller and Christina Saninosensio. Hello Eileen and Christina, welcome to the

[00:03:03] podcast. Hello thanks for having us. Yeah thanks so much. Great to be here. Yes I'm really looking

[00:03:08] forward to chatting with both of you and getting your message out and talking about rare epilepsy

[00:03:13] network and kind of the inception of not just Ren but also the both of you. So please give me a

[00:03:20] little introduction I'll start with you Eileen. We're just delighted to be here also we love your

[00:03:24] podcast and all the work that you're doing to just raise awareness of the rare's and especially

[00:03:30] the epilepsy's. My son was diagnosed after five year diagnostic odyssey and we just hear this

[00:03:36] story over and over again, you know new parents oftentimes their first child and you're seeing things

[00:03:43] that look peculiar for us. Our son as a newborn was smiling all the time and giggling all the time

[00:03:49] and staring all the time sort of having these spells where he just seems spaced out and we just

[00:03:55] thought wow he's a really unusually happy baby and when we would mention it to his doctors you know

[00:04:01] they would say new parents you know it all sounds normal to us and it literally wasn't until he was

[00:04:08] five. He was actually at an ice skating rink with my husband. He fell down and he couldn't get up

[00:04:14] and my husband, who's a doctor suddenly realized oh my god he's having a seizure that sent us down the

[00:04:21] course to meet with a neurologist and have an MRI and truthfully everything came back normal and

[00:04:29] because my husband had trained at that hospital the radiologist came out and spoke with us and when we

[00:04:35] described these peculiar staring laughing giggling, smirking, smiling spells at the time that he was

[00:04:43] having the radiologist actually took a second look and it was on that second look that he saw what is

[00:04:49] a very small non-cancerous tumor called a hypothelemic hammertoma and that gave us a diagnosis and

[00:04:57] when we began reading about that and learning about that everything started to make sense

[00:05:02] and that was the beginning of my journey as a parent and also a professional from the non-profit

[00:05:10] space to help found an organization to bring together other families that had also received

[00:05:18] that diagnosis. And that's a story that I know you can relate to, I know Christina can relate to

[00:05:24] in so many others that it starts with a personal experience you're driven to find your

[00:05:30] your tribe or your community and then in doing so you are surrounded by people where you have so

[00:05:36] many shared experiences and learnings. Oh yeah I mean so much of that I think everyone can relate to

[00:05:44] or so many, even me like the the staring spells and the laughing spells and the gaslighting of

[00:05:49] a new parent right and then feeling like you did make a mistake because you didn't push hard

[00:05:54] enough or you didn't notice the right things. At the guilt for sure, for sure. Okay thanks

[00:06:01] thanks for sharing that Eileen how about you Christina? So thank you again for inviting us to

[00:06:05] be on so my story started when I was seven years old I have a younger brother Michael who's four

[00:06:10] years younger than I am and he was typically developing but at the age of three three and a half

[00:06:16] he just all of a sudden had a ton of chronic seizure. The first of what we didn't know at the time

[00:06:21] would be you know tens of thousands of seizures in his lifetime that set us on sort of a journey

[00:06:26] of Lennox gastocindrom it did take two years for him to get that formal LGS diagnosis and we live

[00:06:34] in the New York City Tri-State area so you would think that we would have access to you know the

[00:06:39] leading epilepsy centers and neurologists at the time which which we did but it still took two

[00:06:43] years for him to fit that criteria of LGS fast forward. Michael is now 36 years old and only last

[00:06:52] year we received a genetic diagnosis for him which explains his LGS. His genetic diagnosis is

[00:06:59] cleastocindrom the gene is EHMT1 it's a chromatin remodel or gene but until you know about 18

[00:07:06] months ago we did not know the cause of his LGS. With that story said it was in 2007 early 2008

[00:07:15] when I realized that there was a desperate considerable need for community around LGS families and so

[00:07:23] I founded the LGS foundation in November 2007 we were officially incorporated in early 2008

[00:07:28] and then I served as first president and then executive director until 2020 so I've been in

[00:07:34] in the rare epilepsy space my almost my whole entire life you know as an advocate for almost 20

[00:07:39] years and I've also worked alongside I lead in a number of different capacities on a number

[00:07:45] of different projects and that's what really brought us together today on this podcast and our

[00:07:49] connection to rent. That's so cool I love a sibling story so much I have so much respect for

[00:07:56] for that sword that you pick up in your family and thank you for creating the LGS foundation if

[00:08:01] you want to hear more about it there's episode 207 with Tracy Dixon Salazar who's now the executive

[00:08:06] director and I know they're just really helping to support families who are having kids with

[00:08:11] such severe seizures. Just out of curiosity Christina can I ask about the genetic testing

[00:08:16] and how it happened so late or had you just revisited for your brother or like how did that transpire?

[00:08:22] He had not received genetic testing as a child or a teenager just because it really wasn't available

[00:08:28] widely available at that time but he was involved in the Epi4k study which was the precursor to Ep gap

[00:08:34] which was the precursor to Epi4k and even with those genetic testes it was a whole exome sequencing

[00:08:40] nothing was found and so we tried to revisit and tried to get data back we were not successful

[00:08:46] and then it wasn't until my my mom had essentially pushed a new neurologist to revisit genetic testing

[00:08:53] and a panel had picked up the new gene we're not new but new to us. Oh my gosh that's so amazing

[00:08:59] and I love that your mom's still pounding the pavement and like advocating. She sure is.

[00:09:04] Well yes check the adults get genetic testing on the adult. Oh my gosh I can't stress that enough

[00:09:10] it's it's incredible what it means as an adult right to receive that genetic diagnosis.

[00:09:17] Yeah absolutely and that it's not a one and done too right that it's something that like

[00:09:22] in Christina's instance and others you've got to revisit it you know if you if you have it as an

[00:09:26] adult and nothing gets turned up don't take that as well there's nothing there take that as

[00:09:31] I you've done it once now within an appropriate time do it again we're we're big proponents of that

[00:09:37] for sure. Amen we need to have a conference on this. Yes we do. Oh my gosh okay well we'll we'll

[00:09:44] revisit that conversation in another episode today we're going to talk about the rare epilepsy

[00:09:49] so first I want to know like I know people are going to go okay well why the rare epilepsy

[00:09:54] network I know there's a couple other things that talk about epilepsy in another group so what was

[00:09:59] the gap between some standing epilepsy foundations that people might just automatically think of

[00:10:04] and the gap that you filled by positioning ran there. I'll just take a step backwards and I will

[00:10:09] absolutely describe the network but I think it's important also to describe you know this

[00:10:14] Christina and I were part of the early founding of it and it was really the first time that my

[00:10:20] organization that I helped to co-found hope for Hypothelemic HammerToma back in 2009 I believe it

[00:10:26] was that year went to our very first American epilepsy society meeting and at that time there was

[00:10:32] an organization then called Vision 2020 that included both the kind of big organizations representing

[00:10:40] the epilepsy in this space so epilepsy is like epilepsy foundation and cure epilepsy but also

[00:10:47] sitting at the table were organizations like Tuberis Gloris is complex and Lennox Gensostokin

[00:10:53] Dremel and I think it was if not one of Christina's first you had only been there maybe just a year or two

[00:10:59] at that point and Christina was so warmly welcoming of me you know newbie in this meeting and in this

[00:11:07] environment hadn't been to a conference for the epilepsy is like this it was pretty overwhelming I

[00:11:13] know a lot of organizations and leaders out there can you know relate to that as well and so it

[00:11:18] began this conversation and at the time there were just a few individual disorder organizations

[00:11:26] sitting around that table flash forward three years later we're back at AES again because

[00:11:31] that's what we do right every year in December all of our organizations go to AES and we're building

[00:11:37] these relationships these conversations and I will never forget it was in San Diego Christina and

[00:11:42] I and several other leaders of these rare organizations were sitting in a hallway and we were all

[00:11:48] lamenting that we had all made an application for a federal funded grant to create a registry for

[00:11:54] our diseases and we had all been declined and we were bummed and it occurred to us sort of at that

[00:12:01] time that well maybe if we had combined our efforts we would have been successful as a block of

[00:12:08] rare epilepsy versus LGS HHTSC sort of all these others and so that was really that conversation

[00:12:17] in that hallway with those other leaders was sort of the seed that then sparked conversations

[00:12:24] with organizations like the epilepsy foundation and others that had the resources to make an

[00:12:31] application for a grant and so Ren at the time was really born out of the need of so many of our

[00:12:40] organizations needing more information about our constituents and their experiences and not being

[00:12:48] able to secure the funds to do that for ourselves so ultimately 10 organizations just like HH just

[00:12:56] like LGS got together with epilepsy foundation research triangle institute and Columbia and we put

[00:13:02] together a PCORI application and we were awarded $3 million and that was in 2013 to create what

[00:13:11] became the first ever rare epilepsy network registry and it was a registry that was an examining

[00:13:18] specifically one disease but that had the capacity to collect information across all of the rare

[00:13:25] epilepsies we started off with 10 organizations and through the development of the project

[00:13:33] we grew to include 32 different organizations imagine that working together gathering information

[00:13:39] and the information that we were gathering included everything you know the cause,

[00:13:44] the seizure types, the medications, the different comorbidities, so many other types of information

[00:13:52] and over the course of five years 1500 caregiver reported information was collected and I think probably

[00:14:02] in Christina can also reflect on the learnings but I think perhaps the biggest learning that came out

[00:14:08] of it was that beyond the cause there were so many shared symptoms I think we were each sitting in

[00:14:15] our silos and we were all thinking well I'm the only organization that has behaviors or ranges

[00:14:21] or on the only organization and disorder that has 20 different types of seizures or we're the only

[00:14:28] community that is suffering from pneumonia or sleep effects and what we began to learn through

[00:14:35] the information that was discovered in this registry was that that many of those shared challenges

[00:14:42] cut across all of the rare epilepsies it was like a huge epiphany and huge new understanding for our

[00:14:49] community. Oh, that makes me tingle I mean the conversations in the hallway right? Yeah.

[00:14:57] Curious that first grant that you were all denied for did anyone get it and was it just someone random?

[00:15:05] Yeah, not in the rare epilepsy space other organizations did were awarded the initial grant but

[00:15:11] there were other other forms you know other rare diseases but it definitely lit a fire under all of us

[00:15:16] and really began that collaboration that continues today which is pretty cool. Yeah I mean

[00:15:20] that is such a significant milestone achieved through like desperate collaboration right?

[00:15:27] I love it so much can you talk a little bit about the process of forming these partnerships with all

[00:15:32] these other groups and like how you convinced them to get on board and make it sort of like one

[00:15:37] think tank obviously I know you were talking to the people in the hallway who like had that epiphany

[00:15:41] with you but sometimes people do get so protective of their silos. Some people have found her syndrome

[00:15:46] and some people think that if I join you I'll lose out on money so how did you sort of nurture that

[00:15:51] community and ignite people to join in? Yeah, I think it happened pretty naturally actually.

[00:15:56] I think the organizations that came together in the beginning again we're coming together just

[00:16:02] sort of desperation and motivated everyone was motivated and then as more and more organizations joined

[00:16:08] and I lean you know speak up if you remember differently but I think it really happened just

[00:16:13] very naturally and through sort of word of mouth like hey this is what's this is what we're trying to do

[00:16:18] and other organizations got really excited about it and got behind it as well and so I really look back

[00:16:25] and see this as a beautiful example of collaboration within the rare epilepsy because everybody really

[00:16:32] don't think that there were any egos involved and I don't think that there were any sort of negative

[00:16:36] or I should say there was in my opinion no real resistance to joining and getting behind this

[00:16:42] and and then it really flourished from there. I lean do you have anything to add? No, 100 percent.

[00:16:48] I think there was such a need for this resource and none of our organizations you know had the

[00:16:53] capacity to do it for ourselves are very few of the organizations had the wherewithal to do it for

[00:16:58] themselves and truthfully even those that did there were a couple in the space that already had a

[00:17:02] registry tuberous sclerosis comes to mind but they were so eager to learn across the rare and I

[00:17:08] think there was a beautiful thing too is that in the development of the tools that became the survey

[00:17:14] that the caregivers and in some instances the patients completed it became such an incredibly robust

[00:17:21] survey because instead of it focusing on the experience of just one community we had the benefit of

[00:17:28] these you know original 10 communities sort of weighing in and it got us thinking more broadly about

[00:17:34] what is the symptom etology and I think you know this really was a turning point across the rare

[00:17:40] epilepsies and I think there was a lot of movement sort of publicly as well like you know the seizures

[00:17:46] stink they suck for our families they are awful but they are not the only symptom and in some instances

[00:17:54] the seizures were the least worrisome of the concerns it was all the other you know the behaviors

[00:18:00] the rages the you know the other health challenges that these rare epilepsies were presenting that

[00:18:07] were the more severe concerns and that was really shared across our groups but there was

[00:18:12] there was very little resistance I think groups were delighted to participate and truthfully when

[00:18:19] project came to an end in 2019 the funding ran out the registry closed it's still available today

[00:18:27] and we can make up the link available if researchers or other people listening want access to that

[00:18:32] data it's still a robust data set but we get asked all the time you know can I participate in that

[00:18:38] registry because unfortunately the problem of many more organizations and a lack of resources to

[00:18:46] create these robust registries is still very prevalent today yeah that's so frustrating the registry

[00:18:53] what included 1500 patient caregivers over over 40 disorders I love what you said about how many

[00:19:00] voices got brought into sort of the decision making around what types of questions to ask and

[00:19:07] what kind of concerns yeah that are actually affecting the families in front right because you

[00:19:12] imagine that this is the worst thing and that's the one thing that everyone wants fixed but when

[00:19:16] you actually ask the families ask the people who are taking care of these people it can be wildly

[00:19:21] different and that goes to show that like you can't make something for us without without asking us

[00:19:27] that's right if it's so important to say that because this was again I think Christina saying a

[00:19:33] beautiful example it really was a beautiful example this was done in collaboration with very

[00:19:37] thoughtful researchers a lot of the groups that had scientists and medical advisors certainly were

[00:19:43] contributing but this is first and foremost the patients and the caregivers driving the registry the

[00:19:50] questions that were asked in the conversation and as a result it was inclusive of things that had

[00:19:57] it been driven in a different way it might not have been and I think you know we're very proud of

[00:20:04] and it doesn't mean that the registry was perfect trust me anybody that was involved in it we could

[00:20:09] all find you know many ways that we could have improved it that we would do differently if we had

[00:20:14] an opportunity to do it again but it really did signify a turning point in our community that we

[00:20:21] had more in common than we did you know that differentiated us from each other yeah I wish there

[00:20:27] was a way for like all of our ultra rare disease community members to kind of figure out this

[00:20:33] collaboration in this partnership in in a big way like that right it sounds like a wonderland

[00:20:40] but I'm not sure how much it makes sense really in practical in practicality what advice do you both

[00:20:46] have for organizations or people seeking to establish sort of similar collaborative efforts in the

[00:20:52] realm of our rare disease world like what what advice would you give to them if they're thinking about

[00:20:56] joining forces forces with like umbrella groups yeah and that really is the beauty of run today right

[00:21:01] so just to finish out the story in 2019 the registry funding had run out the registry you know

[00:21:09] activity or initiative came to an end but a bunch of leaders were still sitting around the table

[00:21:15] then we were up to 32 groups we're all looking at each other and we were like we have so much more

[00:21:20] that we can and should be doing together and so it's almost like Ren 2.0 was born in 2019 when we

[00:21:29] transitioned from being a project just simply a registry focused project to a network

[00:21:36] that would serve as a collaborator a convener of all of the different disorders that had epilepsy

[00:21:43] as a symptom and within short order we you know by 2020 we were at 50 organizations and now in 2024

[00:21:52] we are over a hundred organizations that are all participating yeah under the umbrella we are

[00:21:58] onboarding just this morning we onboarded an organization we probably onboard two to three

[00:22:05] organizations a month if not more that are finding us or we're finding them they are you know disorder

[00:22:13] focused but they have seizures as a comorbidity and they're looking for that partnership and that

[00:22:18] collaboration and that's really what the Ren you know 2.0 network offers organizations today

[00:22:25] and Christina can elaborate on all the different ways that we enrich members of our network

[00:22:31] and frankly they enrich us as a network yeah please Christina break off onto that yeah well I mean

[00:22:37] I'll just go back and talk about just the growth to see two to three members a month and it is

[00:22:42] in fact more than that I leave I think last month we had like six you did but and by the way

[00:22:47] I'm responsible for adding every new organization that comes into this graphic and we are running out

[00:22:52] of room so that's great and it's really to revise that completely soon but but it's it's incredible

[00:23:00] because as we see more and more genetic testing not only become available but new genes being

[00:23:06] discovered we see you know this this motivation from families to do what Eileen and I have done

[00:23:13] you know did almost two decades ago and it's incredible to see how much growth there is in the

[00:23:20] in really the genetic epilepsy and for families to be able to identify the gene that is causing

[00:23:26] their child's epilepsy I mean I know the feeling just it's because it's fresh in my mind 18 months

[00:23:31] ago it's just incredible and so if they have a place to go after they receive that genetic diagnosis

[00:23:38] you know into another organization that is established specifically for either research in the gene

[00:23:44] or advocacy or just even support then that's a win for the families that are receiving the diagnosis

[00:23:50] and then Ren which is providing again what Eileen said in umbrella for all of these organizations we

[00:23:56] serve as the collaborator and I know that you know some organizations in Eileen as touched on this

[00:24:02] might feel a little bit intimidated when first starting an organization they're we feel overwhelmed

[00:24:07] there's so much to sort of navigate in starting a new organization but if we as a as a network

[00:24:12] can provide those resources or at least connect them to other organizations who have sort of been

[00:24:17] there done that and can mentor them it makes that process so much easier and so I know it and answer

[00:24:23] question at all but I just wanted to sort of touch on that on that growth because it really is

[00:24:27] incredible to see yeah it really is I mean the momentum that's happening is is swift like you said

[00:24:32] I mean CTNM be one joined just a couple months ago my friend Rodney smocko was like why aren't you

[00:24:37] on Ren I'm like I don't know because we've been gaslit for so long that we are in a seizure disorder

[00:24:43] but then like all of these new kids and my own included keep popping up and they're having seizures

[00:24:48] and it's finally like we're getting enough patients that we can actually like kind of put our

[00:24:53] stake there and be like this is us and we belong here and we also need this kind of guidance and help

[00:25:00] because we haven't been talking about it exactly yeah and we've learned also I mean even among our

[00:25:04] members you know what what unites our members is that they all have epilepsy some of their

[00:25:10] populations have 100 percent some of their populations have you know 1 percent but they have seizures

[00:25:16] as a common symptom and I think the interesting thing too is that when members become part of

[00:25:21] Ren and they start to learn more about seizures this is sort of unfortunate but we have had groups

[00:25:27] that came in and they thought well 100 percent of our population doesn't have seizures

[00:25:32] and all of a sudden they're learning from all these other members about nighttime seizures or

[00:25:36] staring seizures or laughing seizures or crying seizures or all different kinds of flavors of seizures

[00:25:42] and they begin to realize that actually things that maybe they were writing off as other behaviors

[00:25:46] or spells or whatever actually worse seizures and that the percentage of their population that

[00:25:53] has some of these seizure types actually increases as well so we hope that not that we're looking

[00:25:58] for more disorders to have more symptoms but we certainly do want parents to be aware you know

[00:26:04] especially of all the different types of seizures that there are so that they can be prepared with

[00:26:09] seizure action plans with you know seizure rescue medication that they have an understanding of

[00:26:14] suit up and some of the causes of you know mortality or the more severe injuries that can occur

[00:26:21] from seizures themselves yeah I mean the education surrounding it just makes me think of like the

[00:26:26] word grief right and that so many people think that they can't use that word to describe something

[00:26:31] unless there's been a death and in seizures I feel like especially families in the beginning don't

[00:26:35] necessarily feel like they can identify with epilepsy if there isn't a drop seizure or something

[00:26:41] like that and so it just gets missed that's right that's right the other thing I wanted to mention too

[00:26:46] is that we've Christina and I both have talked a lot about the genetic epilepsy and certainly those

[00:26:52] are the ones that are you know getting diagnosed fast and furious because of the advances in

[00:26:57] the genetic testing but I would be remiss to say or not to say that there are many causes of rare

[00:27:05] epilepsies there are structural causes so tuberous sclerosis and hypothalamic hammertomas are good

[00:27:11] examples of disorders rare disorders that have epilepsies that also are sort of structural in nature

[00:27:19] there are injuries that can cause a rare epilepsy so high HIE is one of our partners

[00:27:25] that represents an injury that oftentimes happens at birth there are metabolic

[00:27:31] epilepsies so one you know as an example and also an example of a rare epilepsy

[00:27:39] that has an intervention that the ketodite can help many of the patients in that community

[00:27:45] there are immune related rare epilepsies and there are also infection related rare epilepsies so

[00:27:51] you know one of the take homes we hope for anybody listening to this podcast is that if you get a

[00:27:57] diagnosis of epilepsy that is not enough you need to ask the next question which is what is the

[00:28:03] underlying cause and the cause could be genetic and you should explore opportunities for repeated

[00:28:11] genetic testing but there could be many of these other types of causes underlying your rare epilepsy

[00:28:18] as well and it's just important to make sure that you know you're getting treated and evaluated

[00:28:23] at an advanced center like those that are level four the National Association for Epilepsy Centers

[00:28:30] maintains a state list where you can look and see all the different centers in your state

[00:28:36] that have that higher level understanding of the epilepsies and certainly of the rare epilepsies

[00:28:42] yeah I mean it's a great point thank you for bringing that up even with Lennox Gesto is an example

[00:28:48] which I'm sure Tracy talked about right and how it's such a heterogeneous disorder while the same

[00:28:53] thing goes for the rare epilepsy network or those organizations that are represented within

[00:28:58] Ren it's not just genetic epilepsies are there there are many different causes to these

[00:29:03] are epilepsy so I lean I think you explain that beautifully yeah thanks for putting a pin in that

[00:29:07] both of you that's so important to ask the next question right and that goes along with so many

[00:29:12] of the symptomatology stuff across rare diseases right and when you get thrown in buckets but there's

[00:29:17] another question or there's another genetic test and to just keep searching and make sure that

[00:29:22] you're finding places like Ren so you can become more informed and better advocate for your loved one

[00:29:29] wow well your growth and evolution is really impressive I mean transitioning from a project to

[00:29:35] standalone network that's doubled maybe tripled in size I think that's that's really cool and I love

[00:29:42] I love the inception story of that let's talk about how you engage the community and how you do

[00:29:48] this continued support like what are the key factors that contribute to this growth and let's talk

[00:29:52] about all those monthly meetings and all these emails I see now that are just so they're so cool

[00:29:58] because they're like chatroom style but they're not an annoying email either so let's talk about

[00:30:03] sort of that whole foundation that you've set up yeah so you know when we evolved from the registry

[00:30:09] to the standalone network we had to sort of build in infrastructure and we realized right off the

[00:30:15] bat that monthly meetings bringing our members together and not just for the sake of talking to

[00:30:20] each other all that's lovely but there's a lot of you know folks that we've all come to love and

[00:30:24] appreciate this community but we pulse we survey our members on a regular basis we want to know what

[00:30:30] is top of mind for them and we bring in extraordinary researchers and speakers and partners

[00:30:36] and other organizations so that we're not wasting anybody's time with these meetings that we have

[00:30:41] each month we're bringing information to our members that they can use that they can use in their

[00:30:47] own organizations with their own constituents I mean just some examples we brought in the

[00:30:51] undiagnosed disease network late last year so they could talk to us about the process that they go

[00:30:57] through of identifying some of these genes and then they are aware of us so they can make referrals

[00:31:03] to their newly diagnosed populations to us and same thing if we have families that are coming to

[00:31:09] rent that are saying we just can't get a diagnosis we are aware of the resources for them most recently

[00:31:16] we had panelists come and talk with us about mortality and it's such a hard topic to talk about

[00:31:21] but if you can imagine all hundred of our organizations each individually dealing with this in their own

[00:31:28] communities how do you educate about it what do you do if somebody passes and what we did was we

[00:31:34] set up a panel we brought in some people that have some experience to really share best practices

[00:31:40] to share resources we're actually looking to put together a working group so that all of our

[00:31:46] members that are interested can work on this collaboratively can share those resources and make

[00:31:51] it available to the rest of the network and in doing so that saves everybody time it minimizes

[00:31:58] redundancy it helps us learn from the groups that maybe are more mature and more advanced and

[00:32:03] they've already figured this stuff out so the newer groups aren't recreating the wheel and anything

[00:32:08] that we can do that saves our members time and effort that's really what we're all about in

[00:32:15] regards to you know our meetings as one example we also have a list serve and maybe Christina you

[00:32:20] want to talk a little bit about the listserv yeah so the listerv is said well it's compiled

[00:32:26] with all of the members that are members of Ren and anybody at any point can ask any type of question

[00:32:32] related to rare epilepsy and the discussion that sort of happens very naturally from those

[00:32:38] hosts and then you know so somebody makes a post and then there's a response and then usually turns

[00:32:42] into a longer thread the information within these discussions is gold I can't even tell you if I had

[00:32:50] if this was a resource to me when first starting the LGS foundation it would have been again a gold mine

[00:32:56] things like collaborative opportunities grant mechanisms questions about IRB protocol confidentiality

[00:33:05] questions just about how do we sort of navigate this one situation have you been there done that

[00:33:10] and then getting the responses from other groups I think it's really it's first of all it's very

[00:33:15] engaging but it's incredibly helpful for newer organizations like we've been mentioning so the

[00:33:20] listerv is super active I would say I mean you probably have a better gauge on how many actual

[00:33:25] posts go through the listerv but it's probably about at least a dozen a month and then it's archived

[00:33:30] so at any point if you were thinking so if I was a new organization and I was curious about maybe

[00:33:36] drafting a by you know a bylaws although most organizations have bylaws at this point but I'm just

[00:33:40] going to use that as an example other organizations might upload their bylaws so other organizations

[00:33:45] can see and again it's this collaborative environment where people can learn from each other

[00:33:49] it's incredibly helpful oh yes keep working on that I love that yeah the other thing I was going to

[00:33:53] mention too is that and we can we'll talk about our news that are also but we also offer what we

[00:33:58] call sort of like our information and referrals so we field multiple questions a week and they could

[00:34:04] come from researchers academics clinicians industry as well as patients and families and

[00:34:12] persons touched by the epilepsy and it could be something like I was just diagnosed with X is

[00:34:18] their an organization for me in which instance we you know immediately refer them out to the

[00:34:23] out to our organizational partners to let them know yeah there are resources this is where

[00:34:28] your tribe is connect with this group if there's not a group will ask them to for their permission

[00:34:34] to sort of hold on to their information and so sometimes we're matchmaking behind the scenes all

[00:34:40] get contacted by two different families that have both been impacted by a newly diagnosed

[00:34:45] disorder and they're looking for their tribe they haven't found it yet and with each of their

[00:34:50] permission we will connect them behind the scenes and the same thing is happening clinicians will

[00:34:55] contact us is their patient organization for this disorder or are there resources for you know

[00:35:01] these symptoms and so we are constantly in touch with all of these communities to try to connect the

[00:35:08] dots and again we see ourselves as the intermediary to quickly pass them off to get them connected

[00:35:14] to the people that are going to have the most up-to-date information about research clinical trials

[00:35:20] support programming community you know opportunities to participate in conferences or come together

[00:35:28] the other thing I wanted to mention too was that we as a network are not just available to

[00:35:34] organizations that are formally as you know organizations like 501c3 nonprofit organizations if a

[00:35:41] group is a support group or a Facebook support group we have space for those groups as well

[00:35:47] within our network so it is not a requirement to be a formal 501c3 to be part of the red network

[00:35:54] because we realized that a lot of these groups are being founded you know by parents by caregivers

[00:35:59] that may not be equipped to formalize the structure of their organization and we don't want to

[00:36:05] exclude groups that are providing community and support for broader and based families

[00:36:11] and then I also just wanted to mention our newsletter which we put out once a month it's a team

[00:36:17] effort across our red leadership and hopefully it includes information about you know all the latest

[00:36:24] news and rent shout-outs to all of our members and all the great work that they're doing will certainly

[00:36:29] refer to this podcast in there when it broadcasts but it really is a source that goes out not just

[00:36:35] to our members but to academics to industry to clinicians and we keep hearing repeatedly from

[00:36:42] you know a lot of our partners in the space how valuable it is to have all of this information

[00:36:48] consolidated in one place and how much they appreciate seeing what all the different organizations

[00:36:54] are up to we celebrate organizations awareness days we track the resources we watch our leaders that

[00:37:02] are you know playing leadership roles not just in the rare epilepsy but in the space at large

[00:37:07] I'll give a shout out recently you know several leaders Nasha fitter from Fox G1 and Charlene

[00:37:13] Sohn Rigby who's both with STX BP1 and Global Jeans were also invited to the White House during

[00:37:20] rare disease week they both gave awesome testimony about rare disease and rare epilepsy and that's

[00:37:27] just two examples of leaders from this space that are making their mark on a national platform

[00:37:33] and also very active members of the rare epilepsy and I'll just add while we're on the subject of

[00:37:38] the newsletter the the newsletter has a really high open rate so 65% which with newsletters is

[00:37:46] extremely high I mean an open rate of 20% is usually considered pretty strong so to see that 65

[00:37:52] percent of members actually open and read the newsletter is is very encouraging I also want

[00:37:57] to mention that our listserv grew in 2023 by almost 50% so I think those numbers against

[00:38:05] speak to the growth of the network wow that was so a chock full of important information thank you

[00:38:10] both so much for sharing it I feel you as being a connector at through once upon a gene for sure

[00:38:15] and now Ren is on my list as a resource to share for families too when they come to me and I especially

[00:38:20] love when you mentioned that there's no hierarchy in belonging and in the development of process

[00:38:26] of your disease group and that anyone can join who's trying to help their loved ones and to figure

[00:38:31] it all out so that's really that's really very cool and then another thing when you were talking

[00:38:36] about the mortality subject and not creating the will by offering these supports I'm thinking

[00:38:43] you must talk to the courageous parents network because they can help you partner on those kinds of

[00:38:48] topics and issues they've done all the work and they're so flawless at it so I hope you can connect

[00:38:53] with them for future conversations surrounding that type of support for families yeah for sure they're

[00:38:57] an amazing resource oh yeah I mean they're it's it's just flawlessly it's flawlessly done okay cool

[00:39:04] well let's let's talk about the let's talk about the future directions and kind of what are some

[00:39:08] major goals that you have top of mind in the near future yeah we'd be happy to and I think I also

[00:39:15] just want to mention the leaders that lead Ren and then I promise I'll go over to what our plans are

[00:39:20] but I think it ties together because they're the people that are helping drive so we have a committee

[00:39:25] right now at what we call coordinating committee there are seven leaders on it we have representatives

[00:39:30] from the epilepsy foundation and from cure epilepsy and they have sort of a standing spot and I think

[00:39:36] it's demonstration of their strong commitment and awareness of the rare epilepsy and those leaders

[00:39:43] liaison back within their much larger organizations to make sure that their staff and their boards and

[00:39:50] their communities are aware of what's happening in the rares too so we really value their partnership

[00:39:56] and their participation we have five other leaders that each represent a specific rare disorder

[00:40:04] and these are rotated so they serve two years Christina is our new chairperson currently with

[00:40:11] an organization called IFCR representing the CDKL-5 gene is our vice chair and you know shout out to

[00:40:19] all of the leaders of the rare epilepsy network because these are oftentimes you know parents

[00:40:26] or siblings they have full-time day jobs very busy day jobs they're oftentimes caring for very

[00:40:32] critically and complex you know siblings or loved ones children parents or adults they are

[00:40:39] writing each their own organization disease organizations as volunteers alongside other volunteers

[00:40:47] and on top of all of that they're stepping up now to serve in a leadership capacity of Ren and

[00:40:53] I just can't say enough about their leadership their commitment their compassion and all that they

[00:41:00] you know give back to these communities they really are right now there there many women

[00:41:06] leading also a lot of men as well the current CC is comprised of all women and they really are the

[00:41:13] rocks are women in our community as far as our you know our plans as said we earlier we

[00:41:20] pulse our members to get you know what is most important to them and two years ago

[00:41:25] we focused on multidisciplinary clinics we heard across from all of our members that there are not

[00:41:31] enough of them the ones that exist are not measuring their efficacy in ways that are meaningful

[00:41:39] we need more accountability for what they're doing we need more inclusivity of the ways in which

[00:41:45] they're operating and so we undertook a deep dive into multidisciplinary clinics we organized

[00:41:51] two meetings during the annual American epilepsy society conference where we brought together literally

[00:41:58] a hundred researchers clinicians and patient advisory leaders it's it's one of the only times or

[00:42:04] few times that we're aware of when all of these people are in the same room talking about a common

[00:42:11] problem and working on solutions and so we're continuing to dialogue and put out resources in

[00:42:18] regard to that problem and that challenge and we're pleased to see like Houston recently

[00:42:25] university just launched a new rare epilepsy clinic for one of the disorders that are a part

[00:42:31] of our membership which is fantastic news and and we hope that more institutes will take on more of

[00:42:37] these to make multidisciplinary care available to our communities this year we're focused on

[00:42:44] clustering and I will pass it off to Christine that I talk a little bit more about that initiative

[00:42:50] and other things that we're doing yeah so this initiative came out of again just conversations

[00:42:56] between the members and we we realized probably a long time ago actually that a lot of the

[00:43:01] disorders that Ren represents share quite certainly symptoms but also other things beyond what has

[00:43:09] really been reported in the literature and even in the registry and so we wanted to

[00:43:15] sort of look at all of the rare epilepsy's for more of a clustering standpoint and what I mean by

[00:43:21] that is again looking at etiology looking at channels looking at symptoms and figuring out where

[00:43:29] there could be synergy based on these commonalities and so we had the breakfast so every year

[00:43:36] Ren Jose their breakfast or lunch at AES just this past December was a breakfast and the focus

[00:43:42] was again looking across all the rare epilepsy's and we had a panel that presented

[00:43:49] and the panel was essentially broken down into and Eileen just helped me out here so the one

[00:43:55] panelist was Dennis Lall who actually collected data and analyzed that and looked at exactly

[00:44:00] what we're talking about and then we had two other speakers who were part of consortia

[00:44:06] to different consortia who had really discussed their experiences of working across multiple

[00:44:12] rare epilepsy's and then who was who am I missing Eileen yeah no so we had a doctor that

[00:44:18] is leading research across the M-Tor pathway and that includes at least three different

[00:44:22] flavors of rare epilepsy's and he talked about his consortia he's based in out of Boston

[00:44:29] mass general and Boston children's hospital we had one of our colleagues from long board which is

[00:44:36] another industry partner and they actually have in development a therapeutic that cuts across all

[00:44:44] of the developmental epileptic and cephalopathy's and so this is really novel usually drugs target

[00:44:50] a particular diagnosis like LGS or CDKL5 but in this instance their therapy if you meet the criteria

[00:44:58] for DEE for short then you would be eligible to take this therapy and so you know again we were

[00:45:05] thrilled to have one of our industry partners come and talk about a novel way of developing

[00:45:10] a therapeutic and then the third was actually Kate Sill who works by day with the phalamic

[00:45:16] dermit syndrome foundation but undertook a project that cut across gastro concerns so this particular

[00:45:25] project called Candid got funding and it included many rare epilepsies as well as neurodevelopmental

[00:45:33] disorders that all had in common the symptoms you know gastrointestinal symptoms and reported on

[00:45:41] their work and so you know back to Christina's point you know there are many ways to slice and dice

[00:45:46] and we're so used to looking at things very narrowly looking at disorders very narrowly

[00:45:52] and what we're trying to do is broaden the way that we're discussing these disorders

[00:45:57] and we even had Dr. Korshets from who's the director of the National Institute of Neurological

[00:46:04] Disorder and Strokes make a surprise visit and actively engage in our meeting and this discussion

[00:46:10] and he showed tremendous enthusiasm for the ways in which we were thinking out of the box very

[00:46:16] creatively across all of these stakeholders about the future of the rare epilepsies.

[00:46:22] Yeah that's very cool I love I love that it is a true collaboration too right again to use

[00:46:27] that word it's not just thinking so narrowly but you're like oh yes I hear you there's a seed

[00:46:32] planted there's a seed plant it and then watching this all grow and kind of connect to each other is

[00:46:37] really really inspirational I love it I think a lot of people can take heed thank you

[00:46:43] okay my last question is two part for the groups that are already members of Ren what are they

[00:46:50] maybe not utilizing that they should be or maybe what do they not know about it and then for new

[00:46:56] comers listening where and how and why should they onboard great great questions maybe we can

[00:47:03] both take a stab at it so I think for the members I would love to see more activity on our social media

[00:47:11] and I would love to see more people using the hashtag rare epilepsies in everything that they post

[00:47:17] so if any syndromes or disorders have epilepsy as a symptom just use the post in the hashtag rare

[00:47:25] epilepsies because I think that is how once again we're going to build you know public awareness awareness

[00:47:32] among professionals and I think that a hashtag and sort of that mechanism and that public awareness

[00:47:38] raising opportunity is largely underutilized I think for the new comers I mean you know if

[00:47:46] if you're listening and your organization or your support group is not a part of Ren please reach out

[00:47:52] to us and we'll engage in the conversation there's no cost to be a member of Ren it's 100% free

[00:48:00] and you can engage at the pace that's right for you so we have our uber Ren members who are engaged

[00:48:08] and serve on every committee and very active in our work groups and you know we really appreciate that

[00:48:14] and we also have members that you know are sort of watching and learning and taking information

[00:48:19] and sharing as it's appropriate I'll just say one more thing are member meetings which

[00:48:24] happen every monthly are very actively engaged we have probably 50 plus leaders of organizations

[00:48:32] attending these meetings sharing insights and actively participating so for the members that aren't

[00:48:39] coming to those meetings you're missing out how about you Christina do you have another

[00:48:45] perspective on those questions no I think I lean covered it I think engagement in social media

[00:48:49] is a great idea and it's tactical and measurable too so especially around things like rare disease

[00:48:56] day which just passed a couple of weeks ago or November which is epilepsy awareness month those

[00:49:01] are opportunities for our members to engage again and and drive sort of the hashtags

[00:49:07] to raise awareness about the rare epilepsy so I think that's a great suggestion Eileen

[00:49:12] and as far as members getting involved we are just to put this out there we are refreshing

[00:49:17] our website so there will be easier navigation for those that are interested in learning more

[00:49:23] about Ren to sort of see exactly what we're doing and an easy way to sort of click through and find

[00:49:28] out how to join and become a member and all that could stop too awesome thank you both so much

[00:49:32] for the detailed download on all this important work it's really exciting and I know people are

[00:49:37] going to take a lot from this conversation and yeah again share share share the rare disease

[00:49:42] community rises by lifting others so if that is the only capacity that you have right now in what

[00:49:47] you're doing in your life is to share stuff on social media know that that is advocacy and we'll

[00:49:52] take all the help we can get so it is not a small thing to be able to spread it throughout your networks

[00:49:58] okay well thanks Eileen thanks Christina it was so nice to chat with you if there's anything else

[00:50:02] that I didn't ask or bring up or that you're thinking of now that we should have talked about

[00:50:06] let me know no I think he's covered everything yeah this is great thank you so much for having

[00:50:11] us and for helping us get the word out we really appreciate amplifying yeah it's my pleasure thank

[00:50:17] you so so so much for being my guest today ladies thank you Efi thank you I hope you've been

[00:50:22] enjoying this podcast if you like what you hear please share this show with your people and please

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[00:50:56] need a little pick me up Ford's got you