March 25, 2021
Jo Ashline reflects on getting a SYNGAP1 diagnosis for her teenager.
Here are the transcripts:
Mike: Okay so welcome. This is the SRF conversation on “What does it mean to get diagnosed as a teenager?” and we have on the screen Jo Ashline who lived through this and I’ll let her tell her own story. We also have Rebecca and Olga who are Syngap directors and parents of Syngapian teenagers, which is a topic that is fascinating to those of us whose kids are not yet teenagers, so I think it’ll be of interest to everybody. And Jo thanks for doing this.
This whole idea came from you and me talking only a week ago about getting diagnosed and what does it mean to…. because I had just gotten off phone with another newly diagnosed parent of a teenager who’d spent her whole life being like “I’m an autism mom,” “I’m an epilepsy mom,” “I’m an autism…” and then suddenly at the age of, I don’t remember, 15, 16, gets a diagnosis. And it’s a very different conversation I have with those families and like, families who have like a three or five-year-old who gets diagnosed because then they’re just like okay what’s wrong with… or I know what’s going on with my child: Syngap. Whereas you’ve already gone through that and now you’re going through it again and trying to re-understand things.
So I just think this would be fun to dig in on with somebody like you who is as articulate and as good at storytelling. So can I ask you to tell your story? Like, what’s the story of Jo and Andrew’s pre-Syngap diagnosis?
Jo: Okay perfect, so you know, Andrew was born at a time when even autism really wasn’t discussed very often. We were lucky if we had a, you know, a news story every couple of weeks about a little blurb. And so, and certainly pre-social media as well, he was diagnosed in 2004 at the age of two. Literally about a week after his second birthday, a week later he collapsed in the front yard and was diagnosed with epilepsy. And so the two diagnoses were very quick. The autism, you know, we had suspected for a while that something was wrong.
Back then pediatricians were pretty laissez-faire I would say about just trying to diagnose right away. It was a lot of, like, “let’s wait and see,” “he’s a boy, boys talk later, “ “I know he’s not walking but let’s wait until 18 months;” and so I feel like we did lose… Early Intervention wasn’t as prominent as it is now certainly. And so I feel like we did lose a couple of months of just going back and forth saying like “hey, something’s wrong” and then we finally got… at 18 months we were referred to our local regional center, which in California is, you know, state-funded services and they can help you get diagnosed and then subsequently enroll you in therapies and so forth.
So at the age of two we got the autism diagnosis. It wasn’t surprising but it was still devastating, you know? I think there was a small part of us that always hoped we were wrong and that maybe it was something he would eventually outgrow and or that we could “therapy away,” you know. So he began early intervention services in our home right away at the age of two. We had two therapists coming back and forth five days a week. It was like go at that point. The diagnosis came and we were off and running and it was a bit of a whirlwind for sure. We definitely struggled with that as parents and as a family unit and just tried to find our new normal.
There wasn’t a whole lot of relief, let’s say, like “ah! we finally have a diagnosis.” It was more of this incredible devastation and what does this mean for our child? And then of course the epilepsy right after that autism diagnosis was even more devastating because now we have this, you know. It’s one thing to have a developmental delay and issues with communication and all this, but now we have this unknown horrendous medical complexity that we have to navigate and our kid is having drop seizures, you know, every two minutes in our home and in the yard. And suddenly the world is a million times more dangerous than it was the week prior. And so that was a really dark time for us. Like I said, we didn’t feel any sort of relief from any of the diagnoses. There was no sense of like “okay, now we get busy and we get to work and we heal our child.” It was just a lot of crying and a lot of wine, you know, way before noon. It was a really tough time.
And over the years, certainly, we began to make our peace, work towards acceptance. We built an amazing community around us that included our in-home therapists and our entire diagnostic and medical team. Friends, family, we were very lucky that we really had a large village from which to gather strength and support, both emotional and otherwise. And definitely fellow autism and epilepsy parents, you know. That was a huge part of that new community that we began to step into. And that helped us through that darkness and then we began to… you get kind of… not excited, but I guess it’s almost contagious (not a great word right now during a pandemic (I realize that); but it’s almost contagious when you are surrounded by other families who are operating from a place of hope. And so I think that’s what we eventually did. We sort of joined the bandwagon of hope and we began finding a lot of autism organizations started popping up from the time Andrew was diagnosed to the time he was elementary age, elementary school age. So we just kind of had to pick and choose which organizations sort of fit our family mission and our mission for our child. And so we kind of became like “à la carte” foundation parents where we would pick and choose. We would have a little bit of this one and a little bit of that one and part of that. I think because we never fully aligned with just one.
I think that can be really difficult. Our kids are so complex and so unique in a lot of ways. And I think also because we always knew there was more to Andrew’s story. We just always knew that we didn’t have the full scope of what was going on. And over the years we had numerous genetic tests done. And a lot of things were, you know, we were able to say “no”. We were excluding a lot of stuff, but there weren’t any other answers other than those exclusions.
Mike: So can I just double-click on a couple thing. You get the autism and the epilepsy diagnosis and you’re sort of in both communities. I have a question there. Because like a lot of our parents now, our four-year-old was diagnosed with Syngap. So I was an autism, I was an epilepsy parent for nine months before I became a Syngap parent. I didn’t have time to get attached to that, whereas you kind of had those two circles and I’m always curious about… Like, did you go to autism… was there much of an intersection of people who were like “oh I have autism and epilepsy too”?
Jo: Yeah, oh yeah, I think there were, yeah. I mean it wasn’t everyone by any means and that wasn’t necessarily the focal point of some of the autism organizations we were part of and certainly autism wasn’t a focal point of some of the epilepsy groups I was a part of, whether that was online or a foundation or whatnot. But yeah, there were definite intersections happening of the two because… I mean, there is a high rate of (and I can’t give you statistics right now); but individuals with autism and epilepsy do exist and there’s a lot of us, you know, so…
Mike: But did you find when you were talking to people who weren’t in that intersection that didn’t quite get it? Like the epilepsy people didn’t get the autism part and the autism people didn’t get the drop seizures?
Jo: Yeah absolutely. Listen, the challenges were very different and the approach to the child was very different. The approach to IEPs, education services, therapies, all of that; definitely there were differences and I think two priorities. I mean, there were times when Andrew’s epilepsy was “semi-controlled” (it’s never been controlled). The autism, the behaviors, those challenges really took priority and precedence. And then there were times when the epilepsy was severely out of control and we were hospitalized and changing medications and things were just, you know, falling apart around us. The autism was in the background so there was always this sort of back and forth between the two. And certainly in the midst of that, because Andrew’s considered on the severe end, a level three autism diagnosis was what he’s always had. You had the behaviors but also the global developmental aspect of it, those delays, those impairments. So there was a lot of just layers to it and it just depended on the circumstances with Andrew what was in the forefront at the time.
Mike: So okay, so you’re neck deep in this. You’ve got hospitals. You’ve got epilepsy. You’ve got autism. You’re dealing with it. You build a community. Can we talk just for a minute about who brought up genetic testing? How many genetic tests did you have? And how long did it take until you actually got the answer?
Jo: So, I mean, genetic testing, from the very beginning I would say and just kind of every couple of years our providers… it was always our neurologist that really sort of took that part of Andrew’s testing and stuff. They took the helm of genetic testing and then it just sort of went quiet for a while. I think we just kind of were like “ah, maybe we’ve done all we can at this point”. And then we found ourselves leaving our local children’s hospital. We just were really unhappy with Andrew’s overall treatment there and sort of like the route that was going and we ended up, and he was getting older. So he was… other providers, other epileptologists were sort of opening up. He didn’t have to just stick with a pediatric only. We ended up finding ourselves in Hoag at Newport Beach with Dr. Millet and we really liked him right away. It was a couple of months before he suggested we do a new round. He was like, “listen, let’s redo some tests. Let’s just do some more tests. I would love to find out if there’s something we can unearth about the cause of his epilepsy that can drive better treatment;” and of course we were like “absolutely!” so we ended up doing that. And Andrew was 16, so I want to say it was like April or May of when he was 16 years old. So a few years ago. He just turned 19. And we got the call to come in and I just, it’s just one of those moments where, you know, like in your life you have these pivotal moments you won’t forget. And we sat in his office, Andrew was with us, and he just looked at us and said something came up and I just was like “what!?” I just, we were so accustomed to like, “hm, we still don’t know”, “hm, we may never know, which we never wanted to hear but we just get used to it. And so when he said something came up and he just showed us, he handed me a printout. And, you know, all this medical mumbo-jumbo right, and he says “He has Syngap” and I was like what? You know, “what the hell is Syngap?” in true eloquence. And he started explaining it and, you know, “we found a variant”. And I just remember it was the first and only time I had ever felt relief at a diagnosis without even knowing what the trajectory for Andrew and his development… what it meant.
I just felt this overwhelming sense of relief because we had a picture of our child. And when he started, he was talking while I was reading and I just remember reading, just that, you know, they have like a paragraph or two on the printout they give you of Syngap and sort of the manifestations of symptoms. And it was for the very first time in our lives, it was like someone took Andrew and wrote him down. Almost to a T. From the way he held his hands, his gait, onset of delays, you know, non-speaking, all of the things that we had been kind of been like, “wow, these are kind of outliers. I don’t see other kiddos with autism displaying this” and “I don’t see other kiddos with epilepsy” and it was a relief. It was so… it’s such a stark difference between that autism and epilepsy diagnosis where it was like pure devastation. This, the juxtaposition here was that I was, we were just, we looked at each other. My husband and I were like “Oh my god. This is Andrew… we finally have an answer. We don’t know what it means but we at least can go from here”, you know. So that was, that’s something we’ll never forget for sure.
Rebecca: I was just gonna say I’m so happy that she had a neurologist that could speak to it in some capacity because when we got our diagnosis right before Autumn turned three, so for context she’s 12. And basically our neurologist said here’s some paperwork on what Syngap is. You’re probably not going to understand most of what you read and you need to go see a geneticist. And that was it. So I’m happy your neurologist was able to at least extrapolate some of the data and give that to you.
Jo: Yeah, and you know, certainly he’s no, I wouldn’t say he’s a Syngap expert by any means but I think he’s the kind of doctor that wants to know more and I think he was pleasantly startled at our… I think it was motivating for him just to see our reaction. Maybe he was thinking like “oh man, I gotta give some news today” and we were like “oh! thank you for finding something” and I think he’s since definitely tried to learn more. But I wouldn’t say there was like a level of expertise by any means. We had to basically start, I’m sure like you, just kind of googling our way through until we started to find each other, you know.
Mike: But so he’s 16. <Yeah.> You read this. You feel heard. Let me just orient time. So one thing we didn’t talk about… and maybe we can come back to, is if he’s 16 you’d already began puberty? <Oh, years before.> So you’re dealing with a puberty Syngapian. You’ve no idea what the heck is going on. You finally get diagnosed and that was how long ago? <So, 16. He’s 19. So three or… 2018. So… almost 3 years yeah…> And I remember we probably got in touch like in the following year. And you… so I guess I have a lot of questions about this moment and the next 12 months because where we sit with SRF, we find the parents find us, right. As they get diagnosed they Google, they eventually find us and it’s a very different conversation for me to meet a parent who is where you were than to meet a Rebecca, right. You got a three-year-old you get diagnosed, you’re like “I’m a Syngap parent”, okay, that’s the normal conversation.
But then I meet a Jo Ashline or, you know, the person I had spoken to last week and it’s like: “I used to be an autism, epilepsy person. Now I’m the Syngap person. I don’t understand what the Syngap is. I don’t even understand which club to belong to anymore or why I should belong to a club. Or like, I’ve made it this far, why should I care?” And can you… I really am curious about sort of three things: a) your journey from 16 to now; b) help us understand, like, that identity crisis that I’ve said exists, because maybe I’m making it up.
Jo: No, you’re not, it exists!
Mike: And then see what do parents who get a diagnosis… If there’s a parent who’s watching this right now or tomorrow who just got handed a piece of paper that says SYNGAP1 and they have a teenager, what do you want them to hear?
Jo: Sure, so the identity crisis is very real. That sort of initial sense of relief at having this answer that we knew was out there eventually succumbed to a sense of confusion and a little bit of denial I think, as far as like having to reevaluate our child’s sort of place in these communities we had been a part of and what that meant. And I would say that that has been ongoing. I don’t think there is necessarily a resolution, nor am I really searching for one anymore. I sort of gave way to… just because I think I never… and I… people are very different. I never considered myself, you know, part of one community and this is my identity and “I am an autism mom” or an “epilepsy mom”.
I think what has helped me is that first and foremost, I am Andrew’s mom. So wherever Andrew is, that is where my identity is. I’m his mom and no matter what comes about with regards to what he’s going through, whether that’s a diagnosis or an immediate health challenge that’s my identity, in relation to him and not necessarily with any one you know organization or diagnosis. So that has helped me when I focus on Andrew and any time I’ve done that I’ve never been steered wrong. So I just have to constantly kind of come back to that as my anchor point because we do get ourselves… First of all, let’s be honest. Raising kiddos with medical complexities or disabilities can be extremely isolating. Pandemic… before the pandemic.
Okay, now you enter this new crazy world we’ve been living in the last year and that can make it even more so. And so it’s natural for us to a) find communities with like-minded individuals and diagnoses because we want answers and we want a better life for our kids, but also there’s a selfishness there that I think is healthy because we want to make friends. We want to be able to look at someone else and say “I relate to you, you relate to me.” That’s a huge thing and it’s an important part of self-care. It really is important in terms of mental health and feeling like you are part of something other than just this daily difficulty of raising our kiddos. And I say difficulty… that doesn’t take away from the beauty of it.
I want to make that disclaimer but it’s important to have those relationships and be able to, you know… like, my most of my friends that I’ve had forever, they can’t relate to me the same way that, like, parts of my community with special needs parenting can relate to me, you know. When I say that my 19 year old can’t sleep through the night still and in a lot of ways I have a newborn in that regard. Like, my girlfriends are like “we’ve been done with that for 18 and a half years”. And so that part of it I think is really important but at the end of the day that identity crisis for me as I’ve been working through it since his diagnosis, like I said, I always have to come back to my first identity as Andrew’s mom. Anything outside of that that I find that I can relate to, or someone can relate to, is just icing on the cake for me.
And in terms of, you know, “Am I an autism mom?” and “Am I an epilepsy mom?”, “Am I a Syngap mom?” I’m all those things. I don’t think that… that hasn’t gone away. Andrew’s autism symptoms and manifest… that hasn’t gone away for us because we have a Syngap diagnosis and certainly the epilepsy has not gone away. Syngap has given us a reason and that has given me the freedom, the mental freedom, to a) let go of a lot of guilt that I had held on to as a parent, especially as a mom who gave birth to her little boy, who questioned every little thing I did. You know, prenatally and after delivery and all those things. Did I breastfeed enough? Did I do this enough? What did I take? Did I… you know, that has dissipated, which has been… that’s a whole ‘nother webinar the mom guilt, you know. That’s been extremely liberating and that’s opened me up to being able to be more present for my child.
So there have been things that I didn’t even expect that have come out of this Syngap diagnosis that I didn’t realize were such a huge and heavy burdensome part of my life. But yeah, there’s a, I think there’s a const- listen, there’s a constant turmoil going on like you know, do I still stay in this group? Am I still relevant here? Does this make sense? And also this sense of almost like because we were 16 when we came into Syngap you feel like an outsider where before you felt like you were, you know, part of the kind of, it’s silly but like the cool kids club, right, where you’re like in the middle of, like, you know, the jocks and the cheerleaders. Now you’re like “hey guys, um can I sit and have lunch with you? Do you think maybe?”
So it’s kind of been all of it, you know. And like I said, I don’t think there’s any one resolution because I’m always just looking to Andrew to guide me. But I will say that my goal is to be more active in the Syngap community. I do think that it’s taken me a little bit of time to kind of get to a place where I feel like I have something to say and that maybe it could help someone. And I keep telling myself just because we got the diagnosis late doesn’t mean he hasn’t had Syngap this whole time. And that’s a big wake-up call for me because everything we’ve gone through has been Syngap. We may have heard a bunch of other things but it’s still been Syngap so if you want to talk to me about puberty and about Syngap in puberty, just because I called it autism and puberty doesn’t mean it wasn’t Syngap and puberty but let’s talk! I’ve been through it! What else do you want to know? IEPs? You know, what else? Let’s do this thing.
Rebecca: I think that’s a valid point, I mean, just your analogy of being with the kid coming in saying “hey can I sit at your table?” I think for a lot of us it’s more like “hey, look at that cool kid who just entered the group. We need to get to know that person. They know so much more than us. They have more years of experience. Like, “hey come sit with us you know, you don’t want to go over there, come sit with us, we’re closer to puberty than them.”
Jo: Interesting perspective right? Because you bring up a whole ‘nother side of it that I wouldn’t have thought about and where I feel behind is the research aspect of stuff, right? I mean listen, I’m educated. I know how to read research. I’m lucky in that way, but I feel, you know, when Mike is like out there and he’s like “we’re doing this!” and “we’re studying!” and then I’m just like, you know, again, you want to talk about puberty? That’s my specialty. That’s what I know. You do that science part. We’ll talk about behaviors, that’s where I can help!
Rebecca: Mike is a freight train so it’s going to be something new every week that he’s like “hey, we’ve got this going on” and “we figured this out” and “these people contacted us” and “this is what we’re doing now,” so keeping up is challenging. But just keep reading the newsletters because he updates everybody.
Jo: Yeah and I think that’s the part of it where I just have to forgive myself and just say I’m not supposed to… if i was supposed to know everything this would just be a one-man show and it’s not supposed to be. We are supposed to collaborate right, as parents. And I know how powerful parents can be because I’ve seen it for the last, you know, 17 years of my son’s life how parents are the ones who move mountains. We have changed the landscape of our public education system for our children. I mean, there’s a lot still to be done but we’ve certainly moved mountains in ways that, you know, others haven’t. And so I’m excited to see where where the Syngap community is going to make these enormous footprints, you know, for our kids and future kids, you know, and families.
Mike: So let me throw two more questions at you and then everyone on this panel, everyone on this webinar right now is a parent, so if you’ve got questions guys just just chime in or if you want to jump up. So from where I sit after, you know, me the freight train who’s obsessed, who is obsessively focused on the future because the way I think about the world: there’s a lot of crazy science happening really fast and our kids, no matter what kind of therapy we create, the odds of our children being made neurotypical overnight are pretty low. The odds of our children being substantially helped by a therapy that improves levels of Syngap and therefore reduces behaviors issues, sleep issues, seizures, is serious. So when I look at the future I can’t tell you which company or lab is going to do something, but in a few years I think it’s reasonable to hope for trials of drugs that could meaningfully change our kids’ lives, right? So when I look at that future I think about how do I make sure that Syngap gets into that process and part of that is selling Syngap and we’re underdiagnosed and that’s all true so that’s easy; but part of that too is is getting the patient community ready for trials and that means organized, that means in Ciitizen, that means all that stuff, right. <Right.> So while I totally appreciate you’re Andrew’s mom first and you have all these other identities, from where I sit, it is useful for people to say a) I’m, in addition to being my kid’s mom, and an epilepsy parent and autism parent, also I am a Syngap parent and therefore I care about what happens to the Syngap community. And we’re ready to organize them. But I also need people to believe that what I just said is true, right. That there’s crazy science happening right now and things can actually get better because I feel like the longer you’ve been with your kid and this is me with a seven-year-old so I’m just taking the past three years of my life. The harder it is to imagine something could change because, and you’ve been with Andrew now for 19 years. So you’re like Mike, are you really going to tell me that someone’s going to make something that we put inside Andrew and it’s going to radically change his seizure profile? So how do I… I mean just that’s just a question to you like… right… how how do I reach out to parents who are getting diagnosed teenager and beyond and introduce this idea… not convince them, I’m not going to convince anybody; but introduce this idea that hey this diagnosis is not just a relief because now your kid is heard and you’re heard but it opens the door to a lot of opportunities. How do we… what’s the smartest way to have that conversation and meet people where they are?
Jo: I mean, I think this is a great not to get… I think this is a great start. I think you appeal to families like me. I think you really touched upon an important thing and certainly when I say I’m Andrew’s mom first, that definitely does not take away from the feeling that you know Syngap is a part of our lives and we we want to see the Syngap community, you know, find treatments and help all of these kids, you know, no matter their age group. But you did touch upon something that I think is relevant in that it is really hard to look at Andrew at 19 years of age and imagine that there is a treatment beyond what we’ve already done. Most of which has been, aside from the epilepsy interventions, most of which has been focused on behavioral interventions. That there is something meaningful that can change for him from a medical standpoint because of a scientific intervention. Now I certainly believe it to be true for the younger generations. I guess for part of our acceptance process all these years that now we have to kind of undo a little bit right is to say we’re going to work with what we have. Yes I feel like my son can make incredible progress in all of these areas and I will always be his fiercest advocate. I will never stop believing in him but also I have to make peace with the fact that we probably won’t ever see xyz. Now the challenge is, and it is a challenge, to kind of let a little light in where we’ve shut the blinds which is to say “hey, you know that thing that we accepted before so that we can move forward with our lives and like get to the next level here? I think maybe we should go back and revisit that because science is showing me, Mike is showing me, SynGAP Research Fund is showing me, that there’s some hope there yet” and that can be hard and beautiful and hard, you know. So that’s part of it. I think you start with discussions like this. You start with parents like me who can then reach out to other families of kids who are diagnosed not just as teens but young adults and adults and just say “why not?” “Why can’t we think bigger?” “Why can’t we think better?” and certainly that’s I think a solid place to start but like you said you won’t convince people. I think the convincing will be with the work itself, right. And then the second part of it is continuing to build upon the community like letting that light in for people who have kind of had… because it is really tricky a big part of why I’m able to show up for my kid every day is because I’m not sitting here yearning every second of every day for the things that aren’t happening, like, you know, stimulating conversations back and forth that I would have with my 17 year old, right? Um, not that those conversations are stimulating, I mean, he’s 17. They’re more like one word grunts. But still, you know, part of being able to be there for Andrew in many ways and be able to show up for him is to not constantly be living in “why not?”, “why can’t he?”, “why, why, why?” and so it is trying to… it is like a mental acrobatics to try to get to a place where it’s like okay I’m still gonna make peace with where we’re at but now I’m going to have some more hope because Mike’s telling me to have more hope and there could be something to this, right.
Rebecca: So I wonder about the challenge as far as it comes down to getting patient families who are older involved and their willingness to be involved so to say that, you know, we’re not living, breathing, needing and relying on the fact that something can change in some capacity we need that message to get out there because when it comes time, that data is important. Having, you know, these children or young adults in these studies is so valuable and important. So how do you change potentially a mentality, and not necessarily change, but evolve a mentality that says “I don’t need something else. I’ve accepted at this point this is life” to “I’m open to see what those possibilities are?”
Jo: Well and I think that there’s going to be a percentage of people that won’t, right. I just think that hope can be very frightening for people who have hoped for a long time and nothing really came of it, right, and they got to a place where they’re like “I just cannot keep hoping to this extent and continue to be letting down,” whether that’s because of uncontrollable seizures… and obviously we’re talking about people who have been in the long game for a long time, right. This it’s a… and we all don’t have the same mental health either. Some people I think are more resilient naturally and some people really have to work at it or maybe aren’t at all and it just really depends. So I think there’s always going to be a percentage of people… and change can be scary even if it’s good, right. Change can be really scary but then I think there’s parents like me who… I… my first thought wasn’t “oh my god, what are we going to do for Andrew now that we know he has Syngap”, right? I mean it’s been really complicated for us and we don’t have enough time nor do you want to hear all of that. But I am now at a place and so is my husband, where we’re like hey man, there’s I think there’s something to this. How can we help? What can we do? Yes, this is our community and like I said, you could call it whatever you want but this whole time it’s been Syngap. That’s been a big part of it too, you know. So I would say that certainly, I’m more than happy to be part of that conversation for other families who may be facing the same thing. If that’s one way I can be of service to the Syngap community is to connect with families who are feeling that way, who are experiencing that similar hesitancy, then I’m all in for that, you know. That’s something that I’m more than happy to do but I think it’s gonna take some advocacy, you know. It’s kind of like when Mike posts about Ciitizen and stuff and he’s like guys like we need just seven people. Let’s do this thing! Like, tell me why you’re worried, tell me what, you know, and start those conversations.
Rebecca: I just had a tangent question. As far as older kids and acceptance and being a part of these other communities: Autism, epilepsy, and there becomes a reluctance to continue to look for a reason why and we know that we’re a significantly under-diagnosed population. So do you engage in conversations within those other communities to say hey guys…
Jo: I have started much more, yeah. And I think that’s an excellent question. Absolutely. In fact, I had someone ask me this morning after I posted about the webinar just kind of sharing like, hey. Yeah, I’ve definitely been like listen, here’s a question to ask your neurologist if you think that your kiddo fits this kind of criteria. If you still don’t have an answer, if you still are wondering… but I can definitely be doing more of that absolutely and that’s important. I think that’s a really important question, yeah.
Olga: Jo, I love how it’s only been three years and you’re doing a lot, so feel good about that. My son is 13 and we’ve… seven years now I guess. We were one of the first to be diagnosed, at least I think in the U.S. Rebecca, you were ahead of us. But Drew was 5 and we’d been searching for a year and a half and our label was PDD, Pervasive Developmental Delay. So you’re doing an amazing job so keep it up. My question to you as the mom of a teen or an early teen, is which of these years are the most difficult behaviorally? Are we looking at early teens, mid-teens, late teens?
Jo: Yeah so, I mean, that is a tough question to answer. We had a massive outlier situation with Andrew that I hope no one ever experiences. He was abused by his fifth grade teacher and, you know, being non-speaking he obviously couldn’t come home and tell us and so he, at that age, began… I mean he went from a kiddo who loved the school bus to a kiddo who was screaming when he would see the school bus. I’m not going to get into all that. You’re welcome to google it. It’s all over the internet, you know, what we went through. But that sort of threw a wrench in being able to tell a typical trajectory of behavior issues because he went from some behaviors to a completely different child. Ended up being diagnosed with PTSD, which is you can imagine very difficult to do with a kiddo like Andrew, and a lot of trauma that we’re still unraveling until now and that really lent itself to a whole ‘nother level of behaviors. We’re really lucky to have an incredible in-home team and and a pediatrician and just our whole village. But unfortunately that prevents me from really being able to give you like a typical… not that I don’t think there is a typical I will say this. I will say… and I know Mike and I spoke about possibly doing something regarding puberty which we are still in the midst of… but puberty does cause an increase oftentimes in behaviors. I mean, listen, it causes an increase in behaviors and neurotypical individuals, let’s just be honest, okay. Like, we’re all a mess during puberty. Some of us never outgrow it. So imagine, right, you either can’t talk or you have, you know, some people have onset of seizures during puberty. Sometimes for the first time. Sometimes new seizures can come on during puberty. All of that’s been well documented in many studies and so there’s a lot of different things. But the truth is, no matter what’s going on cognitively, the hormones are still flying, guys, and the body is still responding and so that stuff definitely needs to be addressed. Not nearly enough resources on this topic. It’s sorely misunderstood and I think parents are scrambling and don’t know what to do and educators as well, right. So this is an area I’m also really passionate about and we’re still in the thick of it and definitely I don’t have a clear cut solution, only to say, you know, it’s the long game. Weather the storm. Yeah, but I think, listen, what really helped us and Andrew’s abuse actually was what really changed this for me, is you know when you look at typical behaviorism a lot of it is like denied access and you know there’s like the four pillars of behavior and what’s missing often is how our kids are feeling. Yeah. You know what I mean, like, what is… I know we look at antecedents; like okay Andrew wanted a bounce house, he didn’t get one, now he’s banging his head. That’s easy, okay. That’s an easy one. But there’s times where our kids just don’t feel good and can’t tell us or they’re scared or feeling anxiety or getting abused by a teacher and we don’t know. And that’s an extreme case. But what it forced us to do as parents is to look at his ABA program and be like, guys there’s a whole section here that’s missing about our children and what else is causing. That’s not all just tangibles. It’s not all just like “I want this and I can’t have it,” “I want to go there and you won’t let me.” Our kids are complex. They’re just like you and I. They just don’t have the means to express it, right? Like if I’m in pain, or I’m afraid, I’m gonna resort to basic survival instincts and it’s not pretty. I mean, our kids are operating most of the time on that level of existence. Communicating the feelings is very difficult. It’s very difficult and I think just, you know, we’re oftentimes, our kids are reduced… I think most providers and educators mean well, but I think the problem has been our kids have been reduced to a piece of paper and a chart and there’s so much more going on a lot of times. And it’s hard to dig it, but once you start to understand that, I think you look at the behavior a little bit differently. We’ve seen a massive reduction… pandemic has definitely… you know, he’s probably super sick of us right now. We are very boring compared to the outside world. He’s like, over it, but I’ll tell you this: if we can reduce behaviors, I really believe anyone can because we were at the like, we were at the cliff. Basically.
Olga: You have in-home ABA?
Jo: I mean we haven’t for a while and that was actually… we ended up… you know he was in in-home ABA, that’s a whole ‘nother thing, for 14 years; and after the Syngap diagnosis I wanted some time to process so I, actually we ended it. Andrew was getting to a point where he was so overly scheduled. He’s in an ABA-based school. The entire program is ABA, although they’re very progressive, which is why I love it. And that was more than enough at that point. Because he was coming home after 3:30 and then having therapy till almost 7:00, like, hi when does Andrew get to be Andrew? Like, at what point? And that’s another thing I’m passionate about too is therapy is important. Intervention can be priceless but also our kids need some time to just be themselves.
Olga: I think that’s a very important point you just brought up because we’ve just gone through that with Drew where we have cut back a lot on the after school therapies and because he just, he was refusing to go. I mean, he was just too tired. The therapists were suggesting that it’s time to take a break. So I think that’s….
Jo: Well, I think you step back and you say what is my end goal here and what am I willing to do to my kid or for my kid to get there? So our end goal… we weren’t meeting that goal at all… and then we had to reevaluate that goal. Like, what is it that we’re looking for for him, you know? But I say that after 14 years guys, in-home ABA. I’m not suggesting it to anyone to like up and quit something. These therapies can be, when conducted ethically and properly and with the individual child in mind, can be priceless sources of support, you know, and change. So please don’t take us stopping to mean like everyone should up and quit their program. That is not what I’m saying. We have, you know…
Mike: I think the broader point is, you know, in what you just said right. Our kids can be over-scheduled. Therapy’s super important, get as much as you can. Our kids can be over scheduled. Give them time to be kids, you know. Accept your kid and be present for them and love them, but understand that things can change. And do what you can, like sign up for Ciitizen, and share your data so we can understand this disease. There’s a lot of these conflicting ideas that you have to have in your head at the same time as a Syngap parent because… I don’t, I’m not an expert in other rare diseases but I have yet to hear about, or in discussion with other rare leaders learn about, a rare disease where the kids are as complicated you know. Like our kids…. some of these kids they have tumors, they have really consistently horrific seizures; whereas we have some kids who have horrific seizures and some kids less so. But I feel like Syngap is “death by a thousand cuts” right. A little bit of autism, a little bit of epilepsy, a little bit of sleep, a little bit of hypotonia. None of your doctors are talking to each other so only when you talk to another Syngap parent does somebody say “yeah, this is a complete and unadulterated SS” and you you just need to… this is a serious medical condition, but because you’re having… because you’re treating eight different symptoms with 10 different specialists and one pediatrician who’s like “I… you have the biggest medical file I’ve ever seen. I have no idea” you know. It’s crazy making until you actually talk to other Syngap parents and I think this is obviously, as somebody who’s quit my job and now works on Syngap advocacy all day long right, I can’t not want everyone to at some level identify as a Syngap parent because… and this is kind of why I want to help people not abandon their other identities but add this badge to their shirt because I feel like the best people to support Syngap parents are other Syngap parents. Because no one else understands that you’re giving an epilepsy med to somebody who woke you up at 4:00 a.m. and you’re protecting the sibling from an act of aggression while wondering is it OT or PT today? Like, that was basically my morning, you know.
Jo: Yeah, I mean I’ll give you an example just kind of piggybacking what you said as far as not understanding. So I just recently had surgery. I had to have a hip replacement and even, you know, I was terrified of the surgery itself but my our biggest concern in the house was like how is Andrew gonna adjust to not having this sort of unlimited access to me and having to rely on other people, which we’re so lucky to have helping us during this time. So the route we took was instead of like how are we going to accommodate the patient which is typical; how are we going to accommodate Andrew so that the household has the least amount of changes because that’s gonna affect the family unit as a whole and allow me to rest. We had to plan everything with him first right? And only another Syngap parent can understand that kind of mentality where you’re like, where I sleep is actually going to be based on where Andrew needs to sleep, what I’m going to do is actually based on what Andrew needs at any given time of day, and that’s kind of how we go through our through our life, right… it’s like the Syngapian and then everything else because that’s what makes the family unit work.
Mike: Rebecca do you want to say anything or is it a little too raw right now?
Rebecca: About this? No, I think it’s correct and it really takes a village. You know, we’re a divided family so Autumn’s dad really stepped up as well as her uncle and aunt to help while I was in hospital and doing surgery. But to your point, she doesn’t understand that mom’s not as accessible as she used to be so… you know, she still grabs and pulls and does all the things that she’s supposed to do. And her stepdad is like “no, no don’t grab mom; you can’t touch mom; come to me,” and I’m constantly saying you need to go talk to ___, go talk to __, and she just doesn’t understand.
Jo: I’ll show you what we did years ago that has come in handy. And of course, probably if the fire department saw it we’d be in trouble. One of the things we did because Andrew flooded our kitchen in the middle of the night… I want to say now it was like five or six years ago… super dangerous, not fun to clean up. My husband and my other son built this gate. So it’s like… because you can’t buy this. Like you can’t buy an “Andrew Gate,” by the way. We tried; they don’t make it. So what we did is: They built that gate. They painted it to look colorful. And that gate separates him from the main part of the living room and the kitchen and all that. And so that gate is the only reason I’ve been able to rest at night. I slept on the couch during my recovery while he stayed on that side of the gate. Because what Andrew loves to do is come in the middle of the night and roll on top of me, which is not great during a hip replacement recovery. So my husband’s been amazing keeping him… But that gate, that’s the only reason I’ve been able to sleep is that gate. And trust me when I say he tries to open it. We’ve had to make tons of modifications right. But this is the kind of stuff only Syngap parents can understand.
Rebecca: Does he climb it? Does he try and get his legs over? No he can’t. It’s way too tall. And that’s why they made it super tall, super thick, super durable, and he’s just not strong enough to climb to begin with. He’s not a huge climber, yeah. <Gotcha yeah.> I mean, you know he can be strong during behaviors, but climbing is not really his thing. But yeah, I mean, that’s the thing. You show a gate like that to a neighbor, they’re like “what? what are you doing?” And I show it to you guys and you’re like “where can I get one?” right? “and how many?,” “and do they come in other colors?” Like that’s just… But anyway, yeah. So I just kind of wanted to speak to that too, right. When we talk about Syngap. I don’t know what’s going on with you but my goodness that does look uncomfortable. I hope you’re healing.
Rebecca: This is my security blanket right now. So I had cervical fusion.
Jo: Okay I saw that. I did see that on Facebook, yes.
Rebecca: Yeah so all good, thank you though. You know, but our kids definitely don’t
understand. They don’t understand sickness, injury. I mean none of it. And it’s, you know, you need to do what I need you to do right now.
Jo: You have a migraine? I’m sorry, I don’t care. Vertigo? The flu? You know, they’re like get on it.
Rebecca: 24-7 mom, no matter what. No sleep.
Jo: No and it doesn’t, it doesn’t and you know. Listen, the other part of that is that it doesn’t just go away. Like when, you know, my 17-year-old, he’s going to be off to college in September. He does his own laundry, he can make a snack or cook a meal. You see the progression in your kids developmentally when they’re neurotypical, but for us certainly we celebrate every milestone and every new skill, but it looks very different. And we know that, you know. It’s another thing to constantly be dealing with. And it resurfaces when friends’ kids meet new milestones or like my son Ian is going to be graduating high school and, you know, Andrew didn’t get that same opportunity. And that stuff comes out, right? Even if you have spent 17 years working on acceptance. It’s inevitable that that comes to the surface and you have to address it. Otherwise, nothing good comes of not, right? So then you find your tribe and you talk and you say this sucks.
Mike: That’s a whole other thing. We talked about this. We have a weekly family meeting and that’s the general… but I’m starting to see that we could subgroup it. The grief comes up, right? The grief of… you don’t grieve and move on because life and kids keep growing, so there’s new triggers all the time and sometimes you just need to… I can’t remember who said this, but sometimes you just need to… -there was a parent who went to something that was triggering, you know, and had to talk with a bunch of parents of neurotypical kids about stuff that for them was abstract, but for us was very real. And this parent talked about driving home with Nirvana cranked up and just screaming and crying the whole way home. Because you don’t know what’s gonna trigger you and that was like… and everyone on the screen was like yep, totally.
Jo: I mean my nephew who’s 3 triggers me. I love him so much, he’s amazing. And he’s been an amazing source of socialization for Andrew because he’s over here all the time. Our families are in our pandemic pods, so to speak, so we’re always together. And he’s the oldest of my sister’s three kids and he’s already surpassed Andrew, not just verbally but in a million different ways developmentally. You know, he’s stronger than him, he’s faster than him. Obviously he can talk. He understands most things that Andrew doesn’t. So that’s been a double-edged sword. Like on the one hand, I love the relationship. It’s beautiful and they have all of the same interests right now like cars and Thomas the Train. But this is one more person in his life that’s already surpassed him, you know, and that is triggering. And I have to just kind of deal with that as wel,l sometimes on just a daily basis when he visits, and just go, that’s okay. You know it’s part of this. And it’s okay to say that. There is no, like I said, there’s no resolution, there’s just processing, right?
Rebecca: With Andrew being 19 have you already filed for guardianship?
Jo: Yes. So we had our hearing. Yes, so ideally… and this is another great topic. But ideally, especially in California, we were told like six months prior to the 18th birthday and now with the pandemic I think a lot of things have definitely changed. So we filed. We ended up using an attorney just because I wanted to do it right; but I know plenty of families who’ve done it themselves. There are resources and yeah that was a whole other thing. We’re really grateful we have it in place. He’s got a conservatorship. We actually had our hearing January of 2020. So typically the hearing will be before… Ours was before he turned 18… so the actual conservatorship didn’t get put in place until after his 18th birthday. Now in California I believe they’re doing them virtually due to the pandemic and there was already a backlog when we were doing it, so if you’re approaching that age at all I would urge you to at least start thinking about it, finding out your state’s local resources. If you want to go the attorney route, sort of, you know, deciding how much that costs and so forth, I know state by state has their own different sort of system in place. But we have relief with that, you know, and we have the main ones which are medical, financial, contract, educational, all of that, yeah, because there’s several.
Rebecca: You have one or two that’s older than Andrew?
Jo: Younger. 18 months younger, so he’s the oldest.
Rebecca: So Andrew’s the oldest and Ian’s 17. And he’s graduating and I assume he’s going to college?
Jo: He is. We’re just waiting for all the choices to come in. We’re still deciding, yeah.
Rebecca: How do you propose that you’re going to prepare Andrew for him leaving home?
Jo: So I don’t think, you know, cognitively Andrew’s not really going to understand the extent of that. He loves Ian. Ian is his bestest friend in the world. But as Ian’s gotten older the relationship has changed because Ian has not been as available, you know, because of the nature of his life, which is he plays varsity baseball. He has AP classes. He has a girlfriend. He has friends. So that’s a whole ‘nother thing. Whereas before there was a lot more opportunity for them to have that time. Ian has naturally through (I mean it’s not his fault), he has a lot… he gets a life too. For us as a family, though, we try to always have balance. And our goal is that as Ian takes flight, that he will always remember where his roots are. And I think part of our big mission with him was that we didn’t want to raise a child that would end up being resentful of the circumstance, so we always made sure he had his own stuff. And then we always made sure he had stuff that he and his brother shared. It was like we were in a constant… and that’s a constant state of flux, right? You’re constantly trying to reevaluate what that looks like for your family. I know I kind of went off topic. That’s another passionate thing of mine.
Rebecca: I think there’s so many different ways the conversation can diverge. My brain is going to: Okay, Andrew’s a teenager. What are you doing for gifts because I just feel like I should wrap up all of the presents and re-gift them because that’s all she likes.
Jo: Honestly Rebecca, you do what is relevant to your kids. So, you know, for us in therapy they spent so many years in the beginning and we kind of bought into a lot of this stuff too, like age-appropriate, age-appropriate, age-appropriate… -and it’s Andrew appropriate. That’s it. It’s Andrew appropriate. If he wants to play with Thomas the Train until he’s 90, who cares? You know? Who is that hurting? What is it that I want for him in his life? That’s the other thing. If
he suddenly develops an interest in bird watching, great. We’ll splurge on that. Like, it doesn’t matter. Whatever is Andrew appropriate. And so if that’s what makes sense for you and your kid then I’m all for it. Andrew, you know, it’s bounce houses, inflatables, dot markers. There’s always something. And we love Amazon and Amazon loves us. But, you know, you do what works for your kid. That’s just, I guess… I don’t know. I’m a big hippie about that stuff. I’m just like, if it makes my kid smile… Life’s already so frickin’ hard for him, and honestly by extension for us, that you know I just… whatever I can do to make it better, that’s what we do.
Olga: No, I think that’s really smart Jo. I think that, you know, I keep wanting to clear out all these toys, but that’s… <Send them my way!> It’s not happening. And in the past, he’s seen me, you know, gather stuff up and he’ll come take it out of the box.
Jo: Yeah, I just, you know, and I think… listen, it’s personal too. I’m not trying to tell anybody what to think, but that’s worked for us and it’s given me so much peace and it makes room. It gives me the strength to deal with the big stuff… What I consider to be the big stuff, you know? Trying to get him to a place of age-appropriate play? What does that look like for Andrew? It is appropriate what he’s doing. And he’s happy and he’s thriving. When he’s doing that, then I have the spoons… I don’t know if you’re familiar with the spoon theory, but you can Google it. Then I have the spoons to deal with the other stuff, like the epilepsy and the other crap that infiltrates his life and our life, you know. So that’s just… and that’s probably just the old-timer in me honestly. Like 17 years in and there’s just some things where I’m like that doesn’t phase me, uh so no. There’s a little bit of freedom with that, you know.
Olga: One quick question. Just going back to the behavior aspect. And I know you all had some different circumstances unfortunately. When we spoke with Dr. Michaud in Montreal, his experience and of course of those that he had the opportunity to treat at the time, he felt that as they got older they were mellowing out more. And I just didn’t know if you’d experienced some of that mellowing a little bit.
Jo: Yeah I think so, and it’s hard to know what has contributed to that, you know. I mean I don’t think he’s by any means done with puberty from what we can tell and and so, you know, we’re kind of still in the middle of it. But yeah, I mean, we definitely have seen… and think too as we’ve changed, I think it’s honestly there’s so many variables going on, especially if you have things like therapy in place and your mindset changes and you’re taking care of yourself. And I think there’s an extension of all that. It all plays a role. But I would hope to believe that’s true. I think, Jesus, if anyone deserves a break with age it’s our kids and our families. So it’d be great to have some light at the end of that tunnel, right?
Olga: Yeah, I think, you know, hopefully as they get older they start to be… Well, they become more accepting of how things are possibly. And that’s kind of what I think they’ve been seeing.
Jo: That’s the hope, right? Andrew’s school when he was attending before the pandemic was a huge source of reduction in behavior. When you have an amazing program that is driven by the right mission and executed by the right people who are in it for the right reasons, that is day and night in terms of success for your kids and your family. So that is my biggest piece of advice. It is invest in those IEPs, in those placements, because they make one of the biggest impacts on your kid’s life and therefore your life. I mean, it is really important to know where you’re sending your kid and who is delivering services and why.
Rebecca: Yes. One question that we have kind of going back a little bit is how did you get Andrew to play with toys? So, I mean, I know I experienced this when Autumn was super young. Getting her to engage and want to play with things. But, you know, at what point in Andrew’s development did he gain that interest and how did you encourage it with him?
Jo: Yeah, I think play is kind of a, you know… How do you define how he plays? So he was always interested in stuff. Primarily his interest has always been cause and effect, which is why, you know, the iPad has been such a huge success here in our house. But he just… I think he, you know, he had a brother that played with him.But Andrew doesn’t necessarily play appropriately with everything so he’s not like… When I say Thomas the Train, he loves Thomas the Train on YouTube videos. He loves the episodes. He loves scripting. So he approximates a lot of his favorite stuff, but he wants us to repeat. So it’s not what you would consider typical play. But then he loves, like, if we build the track and have the actual same trains as the episode, so kind of what we did is we built connections. When we saw him show an interest in a specific video or cartoon, we would try to bring it to life basically and make those connections. Then I would say somewhere around 13 he started developing an interest in, like, art supplies, which was so cool because forever we were like ah, it would be so neat if he would just draw or, you know, scribble or whatever; and he just suddenly took a loving to it and he started doing the walls. And we were like, whatever, he loves it. Honestly, that’s what you get like after a certain amount of time. You just go, whatever works, dude. So he would sit in the hallway and that was like his designated wall space and he would just take dot markers and just kind of do it up. And that was his spot. He loved it. And the floors, but they would wipe off. And then we kind of got him onto paper and slowly off the walls and it just evolved, you know. But I think what we do is we see an interest and, like I said, we try to bring it to life, you know. And it usually now will start with some kind of YouTube video. But he was always interested in cause and effect. So that kind of made it easy when we would buy a little mini keyboard or one of those things like a marble run. Anything like that always gained his attention. So we would just kind of go with it, you know. But, a lot of modeling. And then school, they focused on a lot of turn taking and playing with peers and games, but that’s not his thing. He likes the cause and effect and that. So, again, it’s one of those things that’s probably pretty individual. And of course, you know, he loves Cars, Disney Cars, so he has all the Disney Cars, like that kind of stuff, right? So yeah. Oh and the other thing we started doing was he has these favorite characters that he loves so I started ordering like big giant poster board pictures of them and he just like, you know, we just kind of, you have to just kind of get creative. Like he loves, you know, Harold the Helicopter so he has a huge poster of Harold the Helicopter and he can, like, dot marker it or stare at it or snuggle it, whatever.
Mike: This is great. I’m gonna to ask each one of you… I’m gonna wrap it up after I say something… and I’m gonna ask each one of you to just, if there is a parent watching this and they just got diagnosed with a teenager, what should they keep in mind? I’m going to ask you all to answer that, but I just want to come back to… There were a lot of great one-liners in this Jo. I’m going to have to re-watch it to pull them out, but I like the “cool kids table.” I feel like rare disease land is nothing but a bunch of people looking at other people being like God, how do they do it? That’s all we’re doing. Because when I look at this screen I see two moms who are some of the first diagnosed and are still standing and still full of grace and composure and working their butts off for our community. Yeah. I look at you Jo and I think about all that you’ve gone through before you knew it was Syngap and I can’t understand. I just don’t understand that because I’ve basically always known it was Syngap and then, you know, some people are like how does Mike know all this stuff and Mike’s just constantly saying the same thing. It’s not like I know anything. I’m just like: sign up for Ciitizen. Science is coming. There’s this many companies. I have very standard talking points and don’t know that anyone thinks that I’m cool, but I do know that I’ve spent a lot of time connecting parents who are both like wow they were amazing and I feel like that’s the heart of this right? Like we could all spend hours talking about the ridiculous challenges and stupidities and failures of the medical system and dumb things that neurologists sometimes say. -Not that all neurologists say dumb things all the time. But they all have their moments. But I think the most important thing is these conversations, right? Where parents can validate each other’s experience and answer each other’s questions. And I’m constantly amazed at the parents who are trying to do this solo and aren’t connecting. I just, I don’t know how they’re doing it, honestly. But thank you Jo for being willing to do this and for sharing all of these great… <Thank you. Thanks for having me.> pieces of wisdom. And I think it’s an important conversation because we’re going to have hundreds and thousands of teenagers diagnosed in the coming years and we need to figure out how to connect with those families. So on that note, thank you Jo, thank you Rebecca, thank you Olga. And one minute each I’m going to time you. <Uh oh!> We’ll start with Jo. I’m going to cut you off in 60 seconds . I set my timer up here. You’re a parent of a teenager with Syngap and you’ve just got the piece of paper. What do you need to hear? Go.
Jo: Well, first of all, there’s way more information out there already than there was three years ago when we got the diagnosis and so I would speak to the fact that this is a very fast-paced process in terms of gaining awareness and access to research. You don’t have to do it alone and don’t do it alone, you know? Don’t worry about the diagnosis, the actual name and all of that. Find your people, use the diagnosis to get connected. Go slow but go, you know? I think that’s at the heart of it. If you’re feeling like you are a man with no island, there’s a really big island waiting for you and a lot of people I think are gonna struggle with that identity crisis we spoke to earlier. But on the other side of that is as a new community of hope and help and resources. And you may be an expert on a subject that a younger Syngap family really needs to hear about. So there’s two sides of that, you know? You can get resources and you can be a resource.
Mike: Awesome. Thank you Jo.
Jo: You didn’t even have to cut me off.
Mike: Rebecca go.
Rebecca: So I was thinking about it… because we were very young when diagnosed, but, you know, I think it’s important to keep in mind that this doesn’t this doesn’t change what you’ve been through or anything that you’ve experienced. Having a Syngap diagnosis like we have, a lot of people mourn the fact that they have a diagnosis later in life and it should be a celebration in some way because there is a vast amount of information available to you now. You know, it doesn’t change the trajectory that you are on. Our kids are continually learning and science is evolving and it’s evolving really quickly. And the best thing that you can do is once you’ve let all of that sink in, once you’ve tapped into the community, is to engage in whatever programs are out there so that as therapies do become available and, again, we’re talking therapies. We’re not talking cures. Therapies. You can be a part of it. And I’m done. Mike’s countdown. He’s like “shut up.”
Mike: I would never say that to you, Rebecca. I would never. It’s all gold. Thank you so much. Alright, Olga. You ready? One minute of wisdom. Go nuts.
Olga: We were like Rebecca, diagnosed at a younger age, and I think, frankly, I was relieved we got a diagnosis because I really didn’t know what was ahead, knowing that there’s a life span and wasn’t limited in that way. So I think just getting involved in the community, Syngap community, educating yourself as much as possible, educating the doctors that don’t understand. You really have to manage I think all the different specialties. But pushing research is huge. That’s why I got involved from the beginning. There’s so much going on out there. I think that, you know, we all can do so much and we can all learn from each other. Don’t despair. There’s hope I think as they get older. I’ve seen it even between the ages of 6 and 13. You know, they’ll always make progress. The one thing I didn’t understand as a parent of a neurotypical child is they will make progress. But their skills are splintered and that is common knowledge to special education teachers and maybe some therapists. It was never never explained, really explained to me. It was kind of like after watching, you know, progress with ABA. I’m like, okay, well why are these gaps being filled in and these are not. And so keep that in mind for those of you with younger kids. Now I know we’re talking more about teenagers. Don’t lose hope. Really, you know, I’m still standing, Rebecca’s still standing, we’re all still standing. So, again, the key is pushing research, getting involved, and just, you know, we can all help each other out. Mike has done an incredible job of keeping us all together so it’s really been great. It’s been a great experience despite, you know, the ins and outs of everyday living with a child with Syngap. But there’s so much joys to it too. I mean, my son has a great sense of humor. He doesn’t have many words, but he has no problem with getting his message across. So not necessarily, you know, always the way we want it, but he knows. He knows his sister’s about to go off to college too so we’re going through the same thing. Right now, I mean, he’s not as enamored with his sister anyway in general, just they were when they were younger, they were. But she’s off doing her thing. We’ve done the same thing. Make sure she’s… and she does not feel like that… So I think, I’m hoping, we’ve done a fairly good job, but she doesn’t feel like it’s impacted her too much. She feels like mom has a bigger impact. You know, mom needs more kids with Syngap so that mom doesn’t pay attention to her. Yeah, that’s the answer I’ve got. So I’m feeling good about that in one way and not in another. So we’ll see which once she gets to college how that will all… but he’ll probably be happy to go visit and see her and, you know… so that’s been my experience. But I really, you know, being one of the first diagnosed and, you know, the first thing that came was like okay, I’ve heard about this but what is it and seeing that there was no research. Our neurologist wanted to do some research, when we finally found a neurologist that was working. So we didn’t know we were having seizures. He was having seizures at six months old you, you know. Just little things, like… So but yeah. Research, research, research. Interact with each other. Just everybody can learn from each other. I think it’s, you know, SRF has been a wonderful experience and will continue to be.
Mike: Amen. Well, thank you, all three of you. We’re a little bit over time, but I’m really grateful Jo that you’re willing to do this and Rebecca. Here’s my dog jumping in. We’ll see you guys later. Thanks so much. This was great.