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Chelsey and Anthony Navarro

Chelsey and Anthony Navarro, SRF’s Science Writer and Resource Mobilization Director, respectivly, talk about daughter Emmy, grieving, preparing for the future, and expanding your community.

Show Notes

We’re back with a double interview. Chelsey Navarro, SRF’s Science Writer, and Anthony Navarro, SRF’s Resource Mobilization Director in charge of fundraising, talk with Rainy about grieving after the diagnosis, finding SRF, volunteering, and reaching out to others to expand your community of support.

All episodes are available at ⁠cureSYNGAP1.org/Stories⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠.

⁠Emmy’s Warrior Story⁠
⁠Emmy’s Family Movie

Connect with Chelsey and Anthony:

Connect with ⁠⁠⁠⁠⁠⁠Rainy:

SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

SYNGAP1 Studies and Trials:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

More Links:

Connect with SRF (@cureSYNGAP1):

Family Zoom Meeting (Weekly on Wednesdays, 8PM ET)

Comments: ⁠⁠⁠⁠⁠⁠⁠ed@cureSYNGAP1.org⁠⁠⁠⁠⁠⁠⁠

Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest… by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠

Episode 031 SYNGAP1 Stories, February 18, 2025

#SYNGAP1StoriesEmmy #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp31 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #CureSyngap1Conf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #SelfHelp #Volunteer #Conf25

Below is a transcript from the audio:

Chelsey Navarro

She right now is non-verbal.

Anthony Navarro

Yeah.

Chelsey Navarro

And… also… still isn’t. Her receptive language still isn’t at a two-year-old level yet. So… with the eloping, it’s just so hard because we can’t. She doesn’t understand that she’s not supposed to. For us telling her no, she just doesn’t get it. Why we would tell her no. Um, and… and she can’t talk to us, so… we don’t know what she wants. I mean, there are. I can anticipate a lot. And I know her well. But yeah, I mean, it’s just… it’s a normal frustration that I’m sure that she has because nobody understands her. And… so she gets, she has a lot of behavioral issues around that as well.

Anthony Navarro

Yeah.

Rainy Schlosser

Hello, and welcome to SYNGAP1 Stories. My name is Rainy Schlosser, and I’m your host for this week’s episode. This podcast seeks to unite individuals and families affected by SYNGAP1. Having personal experience as a parent of Hope who has SYNGAP1, I wanted to raise awareness and provide valuable insight every few weeks by exploring the complexities and achievements of caring for someone with SYNGAP1. Ultimately, my goal is to build a supportive community among those caring for children with special needs by talking with parents, siblings, caretakers, and others about the joys and difficulties that come with the diagnosis of SYNGAP1. I hope you enjoy today’s episode.

Hi, and welcome back to another SYNGAP1 Stories. I am your host this week. My name is Rainy Schlosser, and I am the mom of a Syngapian named Hope. I have two very special guests with me tonight joining us from Boston. And I would like to introduce all of you to Anthony and Chelsey Navarro.

Chelsey Navarro

Hi, thank you so much for having us.

Anthony Navarro

Yeah, thanks so much for having us. We’re really excited to be here.

Rainy Schlosser

Great. Welcome. So yes, you guys live in Boston. Gets cold there—I know that for sure. I’m a Californian girl. I like my heat. Um, and all right, you have a little Syngapian. She’s only two and a half years old. And she was diagnosed with SYNGAP1, it looks like on her second birthday. Wow, that’s kind of a… big birthday present to receive for you guys. And her name is Emmy. What is that short for?

Chelsey Navarro

Short for Amelia. Amelia Rain.

Rainy Schlosser

Amelia Rain. Oh! I love that. Being a Rainy myself. A little bias there. I think that’s absolutely beautiful. Okay, and… well, let’s see. Are you guys, you live in Boston. What do you both do for a living?

Anthony Navarro

I’m currently in between jobs right now, but I’m in the biotech industry. Um, and I… basically a director of facilities and lab operations. So I build out labs for different pharmaceutical companies and handle all of their facilities, things like that.

Rainy Schlosser

And… okay, so you um, what Chelsey said earlier. Basically, you keep all of the labs running smoothly, I hear.

Anthony Navarro

Correct.

Rainy Schlosser

That sounds like a lot of responsibility.

Anthony Navarro

Yeah, it’s fun though.

Rainy Schlosser

Chelsey, what do you do?

Chelsey Navarro

So before having Emmy, I was a biology professor. I would teach biology labs for freshmen. Um, I specialized in marine biology so I did ecology, marine biology, all of that fun stuff. But it became a little difficult once I had a little toddler running around, so… I actually decided to pursue something that felt like a bit more of a passion for me, and that was becoming a travel agent.

Rainy Schlosser

Ah, very nice. That’s a big change.

Chelsey Navarro

Our company, we were called the Lab Nomads because we both have that science background. We actually have found that our… kind of science background has helped us to approach travel planning in a more research-based way and kind of… we’re very, uh…

Anthony Navarro

Methodical.

Chelsey Navarro

Methodical about it.

Anthony Navarro

You pay attention to the details. 

Chelsey Navarro

Yeah. It actually felt like a natural flow for us.

Rainy Schlosser

Yeah, that does. Just speaking real quick about your travels, I wanted to jump in real quick about the um, you do a blog, because I hear that you guys have taken, what, over 15 flights with Emmy, and she’s only two and a half years old. How did you manage that?

Chelsey Navarro

It’s actually been even more than that by this point, I’m sure. I don’t even think we could count how many she’s been on. But that became a passion of mine whenever she got diagnosed. I realized that I wanted to know more about special needs travel. So I embarked on a bit of a journey to make that one of my specialties. So I actually am a certified autism and certified special needs travel agent. And… it—it doesn’t mean much in the sense that my job is just to empower. Because at the end of the day, I can help you to just talk through it and figure out what are your fears? What is holding you back from going on this trip that you can do with a special needs child? It might not look exactly the same. And your plans may not work out exactly how they’re going to work out. But together we can chat through what is plan B? What does that look like? And try to kind of anticipate any struggles that may come about. And figure out how we can hit those head-on. And also just… kind of coming to terms with. You know… going on a flight, it’s… not fun. You’re stuck. But… it’s going to end. And you’re never going to see any of those people again. And it might actually be a lot better than you think. I know when I was first traveling, the first couple of flights we went on with Emmy, I had to have a hat and AirPods because I didn’t want to see anybody’s looks. And I didn’t want to hear any comments about, oh, there’s a baby or anything like that. And it… eventually, I started to realize that that was all just in my head. Nobody actually cared. And Emmy did. Amazing. She’s done amazing on almost every flight we’ve been on.

Anthony Navarro

Yeah, we’ve had a few where it’s… you know, she’s started. You know, showcasing her behaviors and… you know, I think people just take it in stride and even the travel or the flight attendants have always been great.

Chelsey Navarro

So nobody actually ends up caring. Yeah. I feel like. And once, once I came to terms with the fact that we really cares, then it just became… a lot easier to travel with her.

Anthony Navarro

Yeah, and I’ll just point out, Emmy’s longest flight has been from Boston to LA, which is roughly six hours. And then… LA to Hawaii, which is another six hours. So she’s done quite long flights as well.

Chelsey Navarro

And we’ve done that a few times.

Rainy Schlosser

Oh, wow. How old was she when she first took her first flight?

Chelsey Navarro

Three months.

Anthony Navarro

Yeah. I mean, that was. There were circumstances surrounding that. Um, you know, a family death. Things like that, so it wasn’t, you know, we had to travel. Um, but, I mean, we just… we both travel. So, you know, she’s in her car seat, contained, and we’ve got every snack, every activity book, every tablet, and everything we can to make it through the flight.

Chelsey Navarro

There are no rules around screen time.

Rainy Schlosser

Right. Exactly.

Chelsey Navarro

And there’s also different things that we’ve learned too, like the TSA Cares, and stuff like that, that has made it so much easier. I think when we went to LA for the conference, somebody met us at security and basically walked us through security. So we didn’t have to worry about that being an issue. Preboarding and stuff like that. Just learning. Kind of what doors are open to us in her circumstances.

Anthony Navarro

Yeah, what accommodations. 

Chelsey Navarro

Yeah.

Rainy Schlosser

And how do you… how, like, TSA Cares. What is that? How does a parent… inquire about that or get that for their child?

Anthony Navarro

Yeah, so TSA Cares is through… TSA, basically, either 48 hours before your trip. Your plane trip, you basically fill out a form on the TSA website. Um, and… you basically tell them where you’re going, when you plan to be at security. And what your um, family’s needs are. And like what your fears are and all of that, and then basically depending on the capacity of that specific airport, they may open an entirely new security checkpoint for you. They may have a head security TSA agent come and greet you. They may just kind of assist you through it. But they’ll generally get in contact with you. Or at least… um, that… you know, day of travel assist you in whatever way they’re able. Not always guaranteed, but it… is super helpful. And I’ve heard from other Syngapian families who have also utilized those services.

Rainy Schlosser

Do you have to have any kind of documentation or paperwork with you in order to?

Anthony Navarro

Nope.

Rainy Schlosser

That’s amazing.

Anthony Navarro

And if you are traveling within 48 hours for whatever reason, or you just forget to fill out the form, you can also call the TSA Cares hotline. And that they can’t guarantee you’ll get all the… accommodations but they’ll do everything they can to make sure that it’s as seamless as possible for you and your family.

Rainy Schlosser

So with all of your travels, have you guys traveled to CHOP? Or to Colorado for the research study, the family history study you did?

Chelsey Navarro

Yeah, so we went to CHOP. I don’t know, probably. Four or five months ago because we’re due to go back soon. Um, we went there, and then we also went to the conference in L.A.

Rainy Schlosser

Yeah. So there are a lot of parents who haven’t visited CHOP because they’re scared to travel with their Syngapian and don’t know what it looks like. And, um, you guys have a blog that has… that talks about all of these perks and all of your tips that you have learned over the years. Um, we’ll put that link in the show notes. Is there any one specific set of advice for traveling on a plane with your Syngapian that you have for other families?

Chelsey Navarro

I think my advice is that you know your child best. So for us, we know, you know, if we park her in front of Ms. Rachel or whatever Disney movie she’s particularly into that week, um, she’ll be happy. And if she has a pacifier and little finger foods, we’re not trying to… force anything. If she doesn’t want to take a nap that day, she’s not going to take a nap that day. Um, but just anticipating what her perfect day would look like in a way that can be anywhere. So… I would say just, you know your child best, you know how you’re going to be able to make them the happiest that they could be. But also… like I said before, just being aware that really, nobody around you cares as much as you fear that they’re going to care. Um, so don’t worry about the people around you. And I know that’s so much easier said than done. I know. But… it’s really, it’s just about you and your little family. You guys are trying to travel somewhere that’s important.

Rainy Schlosser

Yeah.

Chelsey Navarro

If anybody has any problems with that, they can deal with it themselves. That’s their own issue.

Anthony Navarro

Yeah, and I always joke. If anybody does say anything—or is going to, I mean, at the end of the day, you’ve got a special needs child that… you guys are going to CHOP or to a special thing like… nobody is going to be on that person’s side. They’re going to be on your side. Like the whole plane, everybody like…

Chelsey Navarro

Yeah, that’s a them issue.

Anthony Navarro

That’s a them issue. So I always joke about that. I just would echo what Chelsey says. You know your family best. And just know also that there are other alternate means of transportation. Right? You don’t have to fly to CHOP or Colorado. To the West Coast Clinic that’s coming online soon. Um, you know, you can take a train, you can drive. I mean, we will try to work with you to figure out how to make that happen. Um, you know, in SRF, the Syngap Research Fund, I’ll just… you know, as the resource mobilization director, as a volunteer for SRF, I’ll just throw in, we do also provide travel grants to… help get families to those natural history study sites.

Rainy Schlosser

Yeah, let’s talk about SRF for a little bit. Syngap Research Fund. You guys, so Emmy was diagnosed when she was two. And you are both volunteering for the Syngap Research Fund. Chelsey, you’re in the press releases. Anthony, you just said the Resource Mobilization Director. Um, how did you guys find SRF? And then how did you get involved? How did you get these positions?

Anthony Navarro

Yeah, I mean, so… I echo there’s a ton of different Facebook groups out there. And when I—when we first got diagnosed, it’s a long story, but the long story short is it was a bombshell for my wife and I, Chelsey and I. And we were just reeling. I mean, it was the day of diagnosis and… um, I’ll just say the amazing community that Syngap Research Fund has. Mike, the co-founder, actually called me that same day. And just said, “You know, we’ve got a great community behind you all. Um, it sucks that you’re having to join this community, but know that we’re a mighty community. And we’re going to do everything within our power to help your little girl and help all other families with SYNGAP or that are dealing with SYNGAP.” And so, I think, as a guy, I don’t know, we’re just… Type A personality. I felt like I needed to do everything I could. Um, and there’s not much I can do medically or, you know. I’m not one of her specialists or providers or anything like that. So what can I do? And so I figured I can volunteer in the ways that I’m [you know, professionally skilled to volunteer.

Chelsey Navarro

Yeah. He kind of just roped me into it. But then I found that I actually really enjoyed being part of it.

Anthony Navarro

Yeah, I was like, “Oh, I know a writer. You need a new person that does press releases? Chelsey can write like 17 pages. It’s nothing.”

Chelsey Navarro

And it helps with my science background that I can kind of understand the grants. Yeah. Dust off some of that knowledge and figure out what it means and kind of translating that.

Rainy Schlosser

Okay, so a Resource Mobilization Director. What do you, what do you actually do?

Anthony Navarro

Yeah, so I am… I mean, it boils down to—I am in charge of fundraising for SRF, so anything that has to do with a fundraising initiative, whether that be incoming grants from corporate partners of ours, going after sponsorships, going after individual peer-to-peer fundraising initiatives, or all of the different events that we have throughout the year. I do my best to make sure that they go off without a hitch and that everybody within our community has the resources they need to… in order to effectively fundraise the best we can.

Rainy Schlosser

Mm-hmm.

Anthony Navarro

Um, and so we’re a smaller group with an SRF, but I will say just as a plug for Zoe, for everybody. If anybody’s interested in fundraising, please… please reach out. We would love to have you on the fundraising team.

Rainy Schlosser

So you know all of the tips and… ways to make it a profitable event if anybody’s interested. So like some fundraising I know I’ve participated in is just even my birthday. And doing a fundraiser that I said on Facebook, “I’m raising… money for SRF and, um, it’s because the only thing I want for my birthday is a cure.” That’s the only wish I have. And so there are a lot of ways people can get involved and it doesn’t have to be… um, complicated.

Anthony Navarro

I hear from families all the time. And I encourage them. It… just like you said, could be something as simple as a birthday fundraiser on Facebook or it could be a backyard picnic. A trivia night at your local pub or you know, library or whatever… suits you. We have families that do a golf scramble at local golf courses. And we have some larger events, like a gala or soiree, where you know, it’s a cocktail attire and they have an auction, a paddle raise. You know, they’re raising upwards of $250,000 or more at those larger events. Um, so, I mean, I tell families, just get started. It’s, you know, your friends and family care. And the people around you have probably never heard of SYNGAP. And so, just you spreading awareness and raising some money is going to help.

Rainy Schlosser

Definitely. When, um… about three months after Hope was diagnosed and we were met with… we met with Mike and everything. We decided to go to CHOP. And we were terrified of flying with Hope. So we got in the car and we drove over 7,000 miles with her.

Anthony Navarro

Wow.

Rainy Schlosser

We drove across the country. We called it Hope for a Cure. And it was Hope for the Cure 2024. And we tried raising funds. We wanted to raise a dollar for every mile we traveled. And we had a blog and QR codes put on our car and everything. And we’re hoping to do it again this year. But basically, like our goal was just to raise enough funds to cover, at least our travel expenses that SRF was helping pay for, you know? And we did. We did do that. We were able to raise more than what they paid to get us there.

SPEAKER_4

That’s great.

Rainy Schlosser

And so, yeah, if all the families were able to make any kind of travel to CHOP a fundraiser… um, that would be incredible. And so they would get a hold of you, Anthony, if they have any ideas to do any fundraisers. Okay. All right. And then Chelsey, press release now. So you can type apparently very fast and a lot. What is a press release? Why don’t you explain that a little, what you do for SRF?

Chelsey Navarro

Yeah, so… basically, scientists come in and say, “Hey, I have an idea. I think that…” this study will help cure SYNGAP, or… I hope advance towards a cure or you know, some sort of contribution, right? And so they’re basically asking SRF to sponsor them. SRF then gives them a grant. And once that’s all approved, they send it back to me and say, “All right. Let people know that we’re sponsoring this.” So then it’s my job to kind of sort through all the science and figure out, “Okay. What exactly is this? And what does it mean for the SYNGAP community? What exactly does, you know, being able to find biomarkers in the blood mean and why are we sponsoring this? Why do we care about it?” So… it helps kind of keep the scientific community in the loop. See how active SRF is and helps them see SYNGAP, SYNGAP, SYNGAP popping up on their feed. It helps people see where funds are going. I know that… that’s something I’ve talked to Anthony about in the past is it’s so hard to get people to donate when it doesn’t feel tangible. So if there is some sort of… way to look at it and go, “Hey, I can see that their money is actually going towards something.” What specifically it’s going towards and how that is going to be part of finding a cure. Because something as simple as, you know, how can we identify biomarkers in the blood? You know, whatever. It’s not… it’s not the medication that you’re going to give your child that’s going to cure your child. But it is… what can help um, diagnose or can help quantify if medications are working, stuff like that. All that to say… um, press releases, I feel like kind of help keep everyone in the loop of what’s going on. 

Rainy Schlosser

I agree. The… it’s really amazing when you talk about that. It’s because SRF, we, you know, Anthony being a part of raising fundraising and everything, and then you’re on the other end where you get to… explain how our money is spent and why we are choosing to put this money—that we put our blood, sweat, and tears into raising—why we’re putting it toward this study or that study. So it’s—that’s really amazing how you guys are intertwined in, um, making making a cure for our kids. Um, let’s talk a little bit about Emmy. So she is two and a half. Why don’t you tell us a little bit about… what her day life is like. Does she go to school? Is she involved in any activities or sports? What are her favorite things?

Chelsey Navarro

Yeah, so I think that’s been… kind of the big process. We are finally, I think, at a point where… we’ve kind of fine-tuned her day-to-day. So she is… in a therapeutic school. Similar to ABA, but they’re very big that they are not ABA. But it is a therapeutic setting with other kids her age that also have special needs. She goes there just twice a week. They have OT on staff, PT, speech, all of that. And they’re all—involved in the classroom setting. So it’s just for a few hours, a couple times a week, and this gets her socialization and… also hands-on with the different providers. And then the other three days a week, we have—at-home ABA services through the Early Start Denver Model. And basically, it’s just… like ABA services that is more play-based, but still with all of the heavy data collection that ABA is kind of known for. So they come to the house and they work with her. Basically, their job is to you know, if she’s wanting to play in her ball pit for 45 minutes, it’s their job to figure out how to make that a learning situation for her. So that’s kind of what her day-to-day is looking like. She was in OT and speech through private companies. We found that it… it wasn’t as important anymore once all these other ones had kind of kicked in. Um, and I think that has kind of been a learning curve for us, realizing that some services are great, and then you kind of outgrow them and they’re not fitting in the schedule anymore. So that’s kind of where we’re at now.

Anthony Navarro

Yeah, and I’ll just add that apart from that, we have her care team. Right. That consists of her pediatrician, her neurologist, because we have noticed that she started having seizures. And she is on anti-seizure medication. She also has an ENT specialist. Um, and then… apart from that, then it’s a lot of one-off specialists, I would say. We just see every now and then to make sure we’re holistically looking at her as a little person. You know, growing into who she’s going to be.

Rainy Schlosser

Right. 

Anthony Navarro

So, yeah.

Rainy Schlosser

Yeah. So you have an ENT specialist. Why does, why does she need an ENT specialist?

Chelsey Navarro

This was before she got diagnosed. She actually needed tubes put in her ears.

Rainy Schlosser

Mm-hmm.

Chelsey Navarro

And then, between one visit and a follow-up is when she got her SYNGAP diagnosis. And I think there’s some research that has come out that I guess some of these Syngapians need to have their tonsils and adenoids removed. Because with the hypotonia… they have a hard time keeping their esophagus open. Or their airways open?

Anthony Navarro

Yeah, I mean, they’re still looking at it. But yeah, I mean, so… for Emmy, there’s just a few things. We’re in line for a sleep study. Some of these things take a long time. Um, you know, and so we’re just making sure that we’re… you know, crossing all our T’s and dotting all our I’s. Um, honestly, we put together a care book for Emmy based off the care guidelines that are found on the SRF website that we basically have given to every provider to say, “Hey. These are the things that SRF has said could be affecting our Syngapian. Um, we don’t know if they are. These are the things we’ve noticed, here are videos, here are pictures, here… you know, just different things that we’ve seen. Um, you know, help us make sure that we’re not missing something.” And then I will say we’re blessed being in Boston. We’ve got great access to a ton of different resources and providers. Boston Children’s, Mass General, Tufts. I mean, great, great. Uh, hospital systems, so… we’re leveraging what we can when we can. Where we can.

Chelsey Navarro

Yeah, and I think one thing that’s been something I felt so fortunate for is that she got a diagnosis so early. I mean, she really didn’t have a ton of issues. We just happen to… keep having the doctors that were very proactive. Willing to run tests and stuff. It’s been great being able to meet things head-on. You know, he’s talking about all these specialists. She’s not really having GI issues yet. But we already have a relationship with a GI doctor. So that, if and when those do come up, we’re ready. Same thing with the epilepsy. She wasn’t having seizures yet. But then when she did start having it, our doctor was just a call away and was ready to put her on meds.

Rainy Schlosser

Wow, that’s really important, being proactive. Knowing. So yeah, we will definitely put the link to the care… um, portion. I didn’t even know that existed. I haven’t seen that. So I’m going to check that out. Um, Hope herself is getting her tonsils and her adenoids taken out. In the next couple of months, we were in the hospital for a week, well, 10 days in June to transfer her to a ketogenic diet, and we asked for a sleep study, but they wouldn’t do it as an inpatient. However, they said, “Well, we’ll look at her tonsils for you to kind of appease us.” Um, and when the doctor looked in her throat, her literal, her actual words were, “Oh my God,” because her tonsils are that big. And so, um, I’ve heard actually several Syngapians needing their tonsils and adenoids removed. And so we do have a relationship with an ENT specialist as well. But, um, that’s an excellent resource, the cares package, to give to the doctor, especially your primary. So that we can be proactive and check, like other specialists—cardiologists, neurologists, bone doctors Hope is going to be having hip dysplasia surgery next week. You know, and not something that we stumbled upon accidentally. She has scoliosis and one of the X-rays of her spine caught her hips. And they discovered that she had the hip dysplasia. Otherwise, they wouldn’t have checked her hips or done X-rays on her hips just to look. And now we are able to tell other Syngapians, you know. Checking your children’s hips is important… um, because we don’t know about these things until we find them. We stumble upon them. These kids are… so complex and so it’s so rare. SYNGAP1, there is no, you know, there is no… um, guidelines or book out there, but at least we can share each other’s stories and what other parents have found and watch out for that. I applaud you guys for being so proactive and everything. So is she, let’s see here, on your typical day… what are some of the hardships or challenges that you guys have been experiencing lately with your Syngapian? I know she’s going through that toddler phase. But is there anything specific that you’re dealing with?

Anthony Navarro

I would say most recently what we’ve been struggling with is twofold. One is that she has a really high pain tolerance.

Rainy Schlosser

Mm-hmm.

Anthony Navarro

And so she’s fearless and… um, I mean, just this week, she slipped in the tub and smacked the side of her head. And… you know, we all know that a lot of these Syngapians have a huge affinity for water. And the fact that… you know, she wanted out of the tub and actually cried. Told us that this was a serious hit. You know, we called the pediatrician and just had to deal with kind of doing the concussion protocol for 48 hours with her. Um, and then the other kind of big issue that we deal with is that she likes to elope. Um, so, you know, if you put her down, she’s gone. If she, you know… you’re trying to put her in a car seat… um, you know, in the car… you know, you have to kind of do all of the tricks to get her in the car seat. And if you… you know, don’t hold her or, you know, if she’s holding her hand or whatever, and she sees something, she—she just wants to run off. Um, and so, I would say those are kind of the current hardships. I mean, it’s easy now because she’s only two and a half. So she’s not that fast.

Chelsey Navarro

You can just pick her up.

Anthony Navarro

You can just pick her up. But we’ve heard from the community, you know, with… with kids that are much older or even into adulthood now. You know, we’re always reading the Facebook pages or talking to other families and saying, “Okay, we’ve got to get ready for that. We’re going to pay attention to that.”

Chelsey Navarro

I’ll add, too, like… she right now is non-verbal. And… also… still isn’t. Her receptive language still isn’t at a two-year-old level yet. So… with the eloping, it’s just so hard because we can’t. She doesn’t understand that she’s not supposed to. Or us telling her no. She just doesn’t get it. Why we would tell her no. Um, and… and she can’t talk to us, so… we don’t know what she wants. I mean, there are. I can anticipate a lot. 

Rainy Schlosser

Right. 

Chelsey Navarro

And I know her well. But… yeah, I mean, it’s just… it’s a normal frustration that I’m sure that she has because nobody understands her. And so she gets, she has a lot of behavioral issues around that as well. Yeah.

Rainy Schlosser

Yeah, that makes sense. Hope is five years old, but developmentally she’s only two. And so we have a 50-pound five-year-old running. Faster than me, by the way. And she still doesn’t understand why I would tell her no or to stop or what those things mean. You know, so that is definitely challenging. On the other note, what victories and milestones or improvements have you guys experienced with your Syngapian lately?

Chelsey Navarro

Yeah, so we’ve been working with the AAC device for her to… to learn how to communicate with us. She seems to be doing really well with that. She has some issues. I mean, there’s issues with… she doesn’t really have very good fine motor skills, so it’s hard to get her to isolate a finger and press a button, but she’s learning how to use it and will even bring it to us sometimes, which I feel like is huge. And…

Anthony Navarro

Just the other day, she utilized a utensil with prompting. 

Chelsey Navarro

Yeah, she used a fork. 

Anthony Navarro

For the first time, a fork. I mean, we have to… help her with it. But the fact that she took a fork, put it in mac and cheese, and then brought it to her mouth was just huge.

Chelsey Navarro

Yeah, she has her own drive to do it. I mean, we were celebrating, which… it’s funny in hindsight to think about, you know, parents aren’t really celebrating that as much, but special needs parents are. Because that’s so big. That’s such a big win.

Anthony Navarro

Yeah, I mean, and it’s not like she was able to spear the mac and cheese and like, you know, have the full control. 

Chelsey Navarro

It was her first time. 

Anthony Navarro

But it was… it was big enough.

Chelsey Navarro

I mean, we were calling people. 

Anthony Navarro

Yeah. We were just celebrating and a lot of people were like, “Oh, okay.”  

Chelsey Navarro

They just don’t get it. 

Anthony Navarro

But they don’t get it. 

Rainy Schlosser

They don’t get it. I do feel that we… are also very blessed because we jump for joy over those, what Zoe called it, our last guest, inchstones. You know, not milestones, they’re inchstones. But they are so big and they are so… to us. Putting, using a utensil, using a fork. We never know what they’re going to be capable of. And, um, when they do reach one of these inchstones and use something, it’s so shocking and profound. And absolutely celebrating it and yelling it from the rooftops is what we do. That to me is… it’s a blessing because not all parents get to hang on to every single one of those things like we do. Yeah. Ah, let’s see. What is… what is your guys’ biggest long-term fear having a Syngapian?

Anthony Navarro

Yeah, I think for me it’s twofold. So I myself actually have Becker’s muscular dystrophy. So… I mean, the easiest way to kind of explain that is that I’m currently… you know, five to 10 years from being in a wheelchair full-time. Um, barring any, you know, changes or clinical trials or things like that for myself. And so, you know, being head of this household… um, my biggest fear is that, you know, how can I make sure that Chelsey and Emmy are supported as my own medical diagnosis kind of takes its toll? And so, you know, just… from that kind of standpoint, it’s—thinking through the long-term implications of, you know, what happens if I can’t do X, Y, Z? How are we going to do this as a family? And then, you know, from Emmy’s standpoint, it’s… we don’t know what the future holds. But we have friends and family that we can count on. And we are making sure that everybody in our community—whether it be our church, whether it be our closest friends, whether it be our family—knows… what… who Emmy is and that they love her and they care about her. But that if something were to happen to us. Emmy is going to have real needs. And they’re not going to go away overnight or anytime soon. And so, how do we? How do we plan for that? Right. And I’ll just finish with… it was something as simple as when we found out that she started having seizures. We had our close friends and family—we had about 15 folks join us on a seizure… um, a seizure first aid training that the American Epilepsy Society put on for us. And so these 15 friends and family joined us and learned how to spot seizures, learned what to do, and then specifically what Emmy’s seizures were and what to do and what not to do. So it’s just little things like that that slowly add up… you know, are huge. Um, but yeah, it’s just… you know, thinking about the future is a long-term fear.

Rainy Schlosser

Yeah. I agree. Oh. All we can pray is that we’re invincible and can keep up with them. Yeah, that is definitely… um, every parent has to kind of check themselves. I made a major decision a year ago to have a gastric sleeve surgery because I was extremely overweight and dying of diabetes. And I had maybe a couple of months left before I had lost my eyesight and my kidneys. And I know I couldn’t take care of myself—my Syngapian—with if I was blind and on dialysis three times a week. And so I went and had an extreme surgery done. And, um… it was life-changing. I’m no longer even a pre-diabetic. And, um, but we have to do whatever we can to keep up with these kids. And so… what is so… Syngapians? They can definitely… be challenging. They are, they can be completely self-absorbed and everything, which ways… um, what are some of the things that you both do for self-care? Being parents of a Syngapian and how do you care for each other? Do you guys take turns with certain tasks? What does your day look like when it comes to caring as an adult for each other?

Anthony Navarro

I would say Chelsey’s definitely the superhero. You know. I mean. I could go on and on about how she’s the best mom in the world for our family. Um, but I think we just… we communicate. And we really try to make sure that we’re just checking in with each other constantly to say, like, “I… I know it’s my turn to change this diaper. But I just, I can’t right now.” I mean, it’s something as simple as that, right? Maybe that’s a small example, but… you know, life is still happening outside of our little family. And so… you know, when we’re affected by different things, it’s just checking in with each other. Constant. Um, and also…

Chelsey Navarro

Yeah, well, also just realizing… our own limits. Kind of going back to the therapy stuff, I mean, we had her signed up for everything we could think of and more. And had to start realizing what… what are things that… aren’t helping and are instead just chipping away at me. Because I’m driving her from therapy to therapy to therapy. Yeah. And once we kind of started to realize that and started to think through… you know, what actually is working for her and what’s taking away from me… um, and kind of fit her schedule to that, then I was able to start thinking through, “Hey, you know, I want to join a book club.” There’s no kids there. It’s just me. And I can enjoy reading, you know, my spare time and stuff. Or, you know, I don’t have to be involved in the specific therapy or whatever and I can take that time to go work on the travel agency, which is work, but I actually really love it. So it feels like a hobby to me. Yeah. You know, things like that of being able to… I can’t quite say that I put myself first because I definitely don’t and I know that you know, I probably should, but I at least try to take some time for myself where I can get it. Um, and then, you know, for us as a couple, just trying to keep in mind that we are on the same team. And… you know, this is happening to both of us, and… we can get through it as the two of us. Yeah.

Rainy Schlosser

That’s beautiful.

Anthony Navarro

And we rely on friends and family, too, to… step in when we need it. Right. Chelsey’s mom, grandma, comes out every couple months and stays with us sometimes. My mom flies out every now and then. Um, you know, it’s hard. Because we’re… Chelsey’s from Texas and I’m from Arizona. And so our family’s far away. But we’ve created… you know, our own family and extended family out here with our church and our friends. The people… you know, our neighbors know about our daughter. You know. So, yeah.

Chelsey Navarro

Yeah, I even think about the… night she got diagnosed, one of my friends out here. Bingo. It wasn’t even a question of, “Do you need anything?” She was here. She drove right out. She came to our house. She sat with me. She talked with me. Um, and I think that’s… that’s a testament to the community that we’ve built out here. It’s been really wonderful to… not really feel like it’s a problem that we have a kid with special needs.

Rainy Schlosser

Mm-hmm.

Chelsey Navarro

She’s always welcome and she’s loved.

Rainy Schlosser

Yeah. That’s really important, that support. Um, yeah, self-care is extremely important as caregivers. If we’re not pouring some love into ourselves, we have less to give to the Syngapians, to our kids, to our families, to our husbands, to our wives, you know. Um, it is absolutely vital that we pour some self-love and take some time for ourselves to fill our cup. Running on empty is not an option, you know. Because it will just affect our Syngapians and then, in effect, back to us, you know? And so… All right. Well, it has been amazing talking to you both. I have just one more question. You guys were diagnosed in June of 2024. About six, seven months ago, seven months ago now, what is one piece of advice that you can give to the next family who’s going to receive the SYNGAP1 diagnosis?

Anthony Navarro

Yeah, I would just say… um, take the time. Process it. Grieve it. Live with it. Because it’s not going away. Yeah. Um, but then… once you’ve had that time, reach out. We have an amazing, amazing community. Whether it’s on Facebook, the Zoom calls, the conferences, or just… you know, talking to different people within our community. I mean, we can’t do it without the community. And so, just reach out. You know? Whatever it is. Right? And from there, you get to know others and you find your place and, you know, you… you with the help of the community start to move forward… um, with the new normal that, you know, the SYNGAP diagnosis has affected you and your family’s life.

Rainy Schlosser

Yeah, definitely. The community is… um, it’s the diamond in the rough. For me, you know, Hope was diagnosed in November of 2023. We just actually redid her whole genome genetics testing and to check for other abnormalities and stuff, because she has some quirks about her that we aren’t sure where they’re coming from. Thankfully, they didn’t find anything else. But they did confirm that she had SYNGAP1, and it was such a relief to me because there was a little bit of fear inside of me that maybe the SYNGAP1 diagnosis was a false positive and I would lose the SYNGAP community. Like I had this underlining fear, and I didn’t realize I had it until her SYNGAP1 diagnosis was confirmed again yesterday. Because that’s how huge and how important this community has been in my life over the last year. They have welcomed me in and taken my daughter in.

Rainy Schlosser

As a tighter bond than even some of our, you know, biological family is. I understand what you’re saying. Getting involved in this community… volunteering, having your name out there and joining our Facebook group is key. It is absolutely key. It’s also a bit of self-care that we do for ourselves. We’re not alone. There might only be like a little over 1,500 Syngapians that we have found so far, but… it’s going to grow. And I know. Every day when there is a question about Hope that comes up that I don’t have, I know I can go onto those social medias and say, “Hey, has anybody else seen this? Does anybody have any advice on how to handle car seats, how to handle tantrums, how to handle an adult Syngapian being aggressive, you know, all of a sudden toward one person.” These are where we find answers. And we are, like you said earlier, we are the experts of our children. And so… sharing our expertise with each other is what makes this community so strong as well. Well, Anthony and Chelsey, thank you so much for being a guest. And I am so grateful to have gotten to know you more and seeing you at the conference. I know the conference, uh, in Atlanta is coming up in 2025. This year in December, I’m going to be there. And I’m sure you guys will as well. I can’t wait to see you again. But thank you so much for being a guest.

Anthony Navarro

Thank you so much. We really appreciate it.

Rainy Schlosser

Today’s episode of SYNGAP1 Stories was a testament to resilience. We are glad that you joined us. Strengthen your connection by subscribing and liking us wherever you are listening. You can learn more about SYNGAP1 and the vital work being done to find a cure by visiting Syngap Research Fund’s website at curesyngap1.org. Dive deeper into our guest’s remarkable journey through our show notes and feel free to share your thoughts and suggestions by emailing us at ed@curesyngap1.org.