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CAMP4 ASCEND Webinar + #SYNGAP1 Goes Global: Argentina, UN, Newborn Screening, & Jaxon in ICU #S10E221

Saturday, September 26, 2026 — Week 39

CAMP4 ASCEND — WEBINAR #131

  • SYNGAP1 ASCEND Phase 1/2 Trial: What You Need To Know.
  • Monday, Sept. 28 — 12 PM PT / 3 PM ET / 19:00 UTC.
  • Families: come hear directly from CAMP4 + ask your questions. https://cureSYNGAP1.org/AscendCT

  ARGENTINA — PATH TO THE CLINICAL TRIAL

  • CAMP4 + LATAM hybrid meeting: “Path to the Clinical Trial in Argentina.”
  • Remember how they got here: THE CONFERENCE. Community → relationships → trial readiness.
  • Recording: https://www.youtube.com/watch?v=UuhOIzSEKH4

SYNGAP1 LEADERS REPRESENTING OUR COMMUNITY

WARRIORS

TAKE RESPIRATORY SERIOUSLY — JAXON IN ICU

COMMUNITY IN ACTION

CURE SYNGAP1 CONFERENCE — DENVER

  • Dec. 3–4. Science Day: 156 registered. Family Day: 137, including 27 kids/Syngapians.
  • REGISTRATION ENDS OCT. 31. Hotel rooms going fast — register + book now. https://cureSYNGAP1.org/Reg26

PUBMED + SCIENCE

USA: Use ICD-10 code F78.A1.

SOCIAL MATTERS
5,288 LinkedIn — https://www.linkedin.com/company/curesyngap1
1.62k YouTube — https://www.youtube.com/channel/UCtnPWPpqouMA_1UGOyu4W6A
11.1k X – https://x.com/cureSYNGAP1
43.7k Instagram — https://www.instagram.com/curesyngap1

Like and subscribe wherever you listen. https://curesyngap1.org/podcasts/syngap10/
Episode 221 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Below is a transcript from the video:

Mike Graglia

[00:00:00] SYNGAP Land, my name is Mike Graglia. Today is Saturday, September 26th. This is episode 221 of the CURE SYNGAP1 podcast. I got too much to talk about, 10 minutes to do it, so I’m going to talk fast. If you’ve got me on accelerated playback, you might want to slow that down.

The CAMP4 ASCEND trial webinar that is being done at our invitation is happening on Monday. I want to say thank you to CAMP4 for doing that, and I want to encourage everyone all over the world to show up at our webinar on Monday at noon Pacific, 3 Eastern, 7 UTC, which probably means Europe. This is your chance to ask CAMP4 any question you want. Please come there.

[00:00:33] They will tell you all about the ASCEND clinical trial. It’s incredibly exciting.

Number two, there is also a YouTube recording of a meeting that CAMP4 had last week in Argentina. It’s kind of incredible how many things happened last week. Just stay with me here. And that was CAMP4 and LATAM speaking. It was a hybrid meeting, people online, people in person. A lot of the CAMP4 team was in BA. Exceptional work, exceptional work.

And just a reminder, the way we have a clinical trial in Argentina, because a number of people have called us, hey, Argentina got a clinical trial. How do we get a clinical trial? Argentina has come to our conference three years in a row.

[00:01:05] And I was kind of like, why are you guys here? Like, I love that you flew here, but that’s a lot of flight time.

Wherever you are on Earth, India, Europe, Australia, I don’t care where you are. Come to the meeting. The December 3rd and 4th meeting is not our annual conference. It is the largest single SYNGAP event on Earth every year, right? This is it, guys.

Come be in the room with the companies, plural, researchers, doctors, and other families so you can understand what’s going on, especially if you are a leader of your geography. You belong in that conference. Please come December 3rd and 4th to the Denver Conference. Links in the show notes.

[00:01:36] It wasn’t just the Argentines who were busy last week. Eric Moulton went to D.C. to attend a newborn screening boot camp led by the RARE Foundation, who’s one of our partners who we love very much. Eric is just an incredible servant of this entire community as board chair, and we are very lucky to have him. Thanks for going to that newborn screening.

Newborn screening is important, guys. That’s how we find more patients, right? And it changes a family’s life when they can find out when a kid is months old instead of years old, right? And that’s exactly what happened to Matteo. Go read Warrior 237. New Warrior posts on our webpage and reflect on how important newborn screening is.

[00:02:11] If you’re looking for a cause or a niche or some part of CURE SYNGAP1 to start working with, this newborn screening thing is going to keep coming up and we need to be fighting hard for it.

I also want to thank Vicky Arteaga and Allison Hirsch who went to a Rare Diseases International meeting. Rare Diseases International is what it sounds like, big international group, rare diseases. And this week at the UN, there was a General Assembly, lots of ministers of everything, including health.

And so RDI had a meeting at the UNGA for rare diseases, and Allison and Vicky took time out of their lives to go there, go to that reception and talk about SYNGAP and make sure people know about SYNGAP.

[00:02:42] These things really matter, guys. When you’re in a room with decision makers and our families are there and they’re presenting themselves as grownups and professionals, and Eric and Allison and Vicky are nothing less. That helps people have the confidence to put SYNGAP on the list for the next project. And that’s how our kids get better services, better treatment, better diagnosis.

So huge thanks to Eric and Vicky and Allison from New York to D.C. doing so much work this week. I will, by the way, be flying to D.C. tomorrow for a different meeting that I will tell you about in a couple days. But a lot going on, and I’m really grateful to all the leaders for all the things they do.

[00:03:13] I talked about Matteo. A lot of us this week were riveted and watching Facebook really closely because Jaxon Harding basically spent the entire week in the ICU.

Jaxon’s dad is Aaron Harding, who many of us know. Aaron and Monica were the first family Ashley and I talked to. They invited us to their home. We went, we met Jaxon, we met Michaela and Natalie and the whole family, and we saw what SYNGAP looked like in a teenager, and we went.

And that’s probably one of the biggest reasons we started CURE SYNGAP1 is the encouragement and the learnings early on from Aaron and Monica. And they continue to share their lives and their family and to educate our entire community.

[00:03:51] And I cannot say thank you enough for how open they were about what was going on with Jaxon.

So let me just tell you quickly. Thursday, Jaxon was a little sick. Whatever. Friday, little sicker, but okay, and Aaron looked at him, and Michaela, Michaela’s a psych nurse, came over, used the stethoscope, listened to him, he said, it’s probably all right.

Saturday morning, 4 a.m., he’s doing so badly, they go to the ER, they go to the ICU, he’s intubated, right? Intubated in the ICU is no joke.

So we have to ask ourselves what happened here. How did they miss it? They didn’t miss it, right? This is one of the smartest families, more clinical education, more SYNGAP knowledge than any of us.

[00:04:22] They didn’t miss anything. What they dealt with was a Syngapian who got a respiratory infection. And when Syngapians get respiratory infections, they go like a rock in the ocean. Why?

Well, luckily, CURE SYNGAP1 has been funding research for years. One paper is published, one paper is coming, and both of these papers tell us very clearly SYNGAP does not just affect the brain, it affects lung cilia.

Don’t just say, oh, SYNGAP’s a ciliopathy, because that means a lot of things to a lot of doctors. SYNGAP specifically affects the cilia in the lung. The cilia are how the cells move stuff, like mucus out of the lungs, right? All Syngapians have compromised lungs. Get that through your heads. What does this mean?

[00:05:04] It means, number one, if you have a respiratory infection, you need to take it very seriously. And if they get lethargic, you need one of those SpO2 little finger tracker things you can get from Amazon, 20 bucks, in your house. If that number is low, like sub-90, you need to talk to a doctor, number one.

Number two. Your kid should be vaccinated against everything respiratory. COVID, flu, RSV, all the things. Get the vaccines.

Number three, your kid can’t process mucus. When your kid gets sick with whatever and their body makes mucus, unlike all the other normal kids, they’re not gonna be able to get that mucus out. You need to help them get the mucus out.

[00:05:37] If you read the comments on Aaron’s post, you’ll see some parents actually had so many lung issues, they got a CF vest approved by their insurance. Those aren’t cheap. For insurance to approve that, a doctor had to say, this kid has seriously compromised lungs.

We need to get into those medical records and publish these cases, but that’s going to take us forever. Anyway, let’s stay on point, Mike.

The point is, our kids struggle with mucus. Take respiratory seriously. Get a pulmonologist. Have them listen to your kid’s lungs. I’m going to come back to lungs in a second.

The other thing is, like, news you can use. I have been saying this for a while.

[00:06:09] A number of patients, including my son, take serrapeptase every single day. Serrapeptase is over-the-counter. You can get it from Amazon. You can get liquids. You can get tablets. Whatever you want.

It’s a little enzyme silkworms make. And what it does, it helps your body eliminate and clear mucus. So given that our kids’ lungs can’t get the mucus out, if you give them serrapeptase every day, it just helps them reduce the mucus burden. And this is important.

Let’s go back to Jaxon. ICU, Saturday morning, 4 a.m. On Friday, Michaela listened to his, someone listened to his lungs. I think it was Michaela. Could be wrong. And they didn’t hear anything.

[00:06:43] Normally, when you listen to the lungs of someone who’s got too much mucus, you can hear wheezing because the air is struggling to move around all the mucus.

The thing about Jaxon’s lungs, and we learned this from the CAT scans later at the hospital, is the mucus, there was so much mucus, it had sort of solidified and filled up the bottom parts of his lungs. That’s how bad it was. That can happen.

My point in being so clear about how talented and resource-filled the Hardings are is this could happen to anyone. So I want you to go to Aaron Harding’s Facebook page, links in the show notes.

[00:07:17] I want you to read all those posts and I want you to understand this could happen to any of us. You gotta be on guard for respiratory infections. You should probably have your kid on serrapeptase and make sure your doctor is thinking about the cilia issue.

If you wanna, I’ll add a link to the paper that discusses lung cilia. I think that one’s public, I’m not sure. Anyway. I want to also point out, I got to keep going. There’s too many other things.

Fundraisers. There’s the Auburn Delta Sigma Phi. Phi? Phi. Who knows? I was not in a fraternity, obviously. Wyatt Jones, who is the son of our board chair, Suzanne Jones, is having a Delta Sig fundraiser for SYNGAP1.

[00:07:53] Thank you so much, Wyatt. Links in the show notes. Support them if you want.

This is not just exciting that a fraternity is doing a fundraiser for us, but hopefully it’s a model. If your kid is in a club, if your kid is in a church, if your kid is in a frat or sorority, they too could copy this fundraiser and repeat this model.

We need all the money we can get, guys. The amount of work ahead of us is massive.

Speaking of needing all the money we can get, LATAM is launching a fundraiser so you can donate through CURE SYNGAP1 and the money will go into a dedicated account for our Latin America program.

[00:08:20] LATAM is led by Vicky Arteaga from Florida slash Colombia and Fernanda from Argentina. Guys, the amount of work they’re doing representing patients from Chile to Peru to Uruguay to Mexico to Colombia to Argentina, I think I already said, is simply amazing.

And the work that Vicky Arteaga is doing is exceptional. So if you have a soft spot in your heart for the LATAM community and you want to support Vicky and her incredible work, you can do that on our website, curesyngap1.org slash V-O-C-E-S. I’m not even going to try to pronounce it because I can’t.

I already talked about the conference. I want to get one more thing. I have one minute left.

[00:09:00] PubMed is at 54 this week. That’s 15 against work 39, week 39, which we’re in. Last year we finished at 61. Are we going to have seven more publications this year? I’m pretty sure. So this year will be our best, but right now we’re tied for second and it’s not even the end of September. Incredible work.

That one of the coolest papers that I’m aware of that isn’t even on that list of 54, Pekka Postila in Finland has published a huge work on modeling on missense. I could talk about this for hours, and I’m sure we will have a webinar. Kathryn, we need to have a webinar on this.

But for the missense families out there, go ahead and read that paper.

[00:09:32] And if it seems like gobbledygook to you, feed it to Chat or Claude or Gemini or whomever and have them explain it to you until we write a blog because it’s really exciting and it’s a big step forward for missense research.

Thank you, Dr. Postila, for doing that. If you’re in the U.S., guys, use your ICD-10 code. Follow us on LinkedIn and YouTube. We have a growing number there and we appreciate it.

Thank you so much for listening. See you at the webinar on Monday and I will be back early next week with news about my travels.