Sunday, September 7, 2025. Week 37.
Why does CURE SYNGAP1 aka SRF matter? Do PAGS make a difference?
Heck yes.
1. Empower Families – Support. Educate. Activate. Coordinate.
2. Use Money Catalytically – Tax advantage. Pool. Manage. Make Catalytic. Focus. Manage.
3. Partner with Science & Medicine – Push forward. Connect efforts. Focus on Tx. Work in Clinic.
4. Leverage Ecosystem. Industry. PAGs. Superpags (CB, GG, ELF).
5. Ensure Continuity. Our kids will outlast us. Our energy wanes. Life happens. Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD.
Because you VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
Gala video: Look at those faces. https://www.youtube.com/watch?v=d6dCSBq27Gc
Friday: Beacon of Hope September 12, 2025 – Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 – Greer, SC cureSYNGAP1.org/Scramble
📺 TV Interview! https://www.wspa.com/your-carolina/scramble-for-syngap-2/amp/
Conference is in 88 Days
https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
1. Register (97 done!) Need to register for the conference? Do that here: cureSYNGAP1.org/Reg25
2. Get a Room (Deadline 11/3 – Will sell out) Need a hotel room? Use our block here: cureSYNGAP1.org/GATech
3. Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!) Register here: cureSYNGAP1.org/Din25
4. SHARE BLOOD TO THE SRF BIOBANK 🩸https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
#Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY)
https://people.com/boy-rescued-from-hersheypark-monorail-is-on-the-autism-spectrum-says-rescuer-11802782
https://web.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl?_rdc=1&_rdr#…
3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombia https://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/
Register at cureSYNGAP1.org/Congreso3
SOCIAL MATTERS
- 4,306 LinkedIn. linkedin.com/company/curesyngap1/
- 1,430 YouTube. https://www.youtube.com/channel/UCtnPWPpqouMA_1UGOyu4W6A
- 11,286 Twitter https://x.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
Join Citizen Health! Last count we were at 275!
https://www.citizen.health/partners/srf
Pubmed is at 42!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
NEWLY DIAGNOSED?
Next New Family Webinar – Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
Episode 181 of #Syngap10 #CureSYNGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Below is a transcript from the video:
Mike Graglia
Hello, Syngap Land. My name is Michael Graglia, and this is episode 181 of the CURE SYNGAP1 podcast. Today is Sunday, September 7th. Hopefully, you’re not going to get this until Monday, September 8th. And on Friday, September 12th, I will be speaking in Boston at the inaugural Beacon of Hope event we are doing there to almost 200 people. And I’ve been thinking a lot about what I want to say and and it sort of all my as I sort of just just walking around the house talking to myself thinking about what I wanted what I wanted to say because that’s how I do this um I found myself trying to explain the importance of patient advocacy groups the importance of patient advocacy in rare disease the importance of Cure SYNGAP1 also known as the Syngap Research Fund. Do we make a difference. Do we matter? And the answer of course is, hell yes. And I just want to put the why we matter into five buckets. And I’m sharing this with you guys just to practice saying it out loud but also because if I’ve missed something you think I’ve got something wrong, please I want to hear from you this week. Email me, call me, text me. Put it in the comments on LinkedIn or on YouTube. Let me know. LinkedIn’s the best place, honestly, because I think that’s a great place to have conversations. Five reasons why SRF, why patient advocacy groups matter in rare disease. First of all, we empower families. We empower families, right? So step one, you get diagnosed. You know what the hell’s going on. We support you. We tell you it’s going to be okay. We talk to you. We connect you with people who’ve been where you are before. Then we educate people. So support, educate. This is what Syngap is. This is what haploinsufficiency is. Yes, it’s true. The doctors are sometimes clueless. Some of them are clueless. Some of them are not clueless. This is how you deal with doctors. We give you the questions to ask. We tell you which doctors to ask for. We tell you what to ask for. We activate parents. And what that means is saying to them, ‘Okay, I know you got a lot on your plate. You know, your kids are sick, et cetera, but there’s more you can do to make your kid’s future better’. You can raise funds. You can build a community around them. You can raise awareness around SYNGAP1. But then activating is not enough, because 10 activated rare disease parents is just like a mess, right? You have to coordinate that activation. You have to give people, you have to point people in the same direction. You have to help us work together because none of us have time to waste. So empowering families through support, education, activation, and coordination. That’s a big thing. Next thing is we use money catalytically, right? What does catalytic mean? It’s like catalytic converter. When you catalyze something, you make something happen without spending yourself, right? And that’s weird because you’re like, what do you mean money catalytically? Well, anytime we can use money to have a bigger impact than it would normally have. That’s what we like to call catalytic investing. Why is it catalytic? Well, if you give money to the fund, you get a tax deduction. That’s always nice. If the fund spends money as opposed to a family spending money, we often negotiate with a scientist or a scientific institution. We often negotiate a great reduction in overhead fees, so we get more for our bank for our buck there. We pool funds, right? So if this family can raise $10,000, not much a scientist can do with $10,000. If that family can raise $50,000, if that family can raise $100,000, amazing. But when you pool those funds, then you get to writing significant checks and credibly say to people, ‘Look, if you get this done, then we can fund more later.’ And by pooling the funds, we make sure that we get more out of it. We then manage the money, right? So the money we get, we commit to grants as fast as possible. But while that money is waiting for the scientists and the institution to use it, we, you know, have it for now in bank accounts and bonds. We might do some more interesting things with our investments over time, but we manage the money and then we make it catalytic, meaning we say to people, ‘Hey, do you want to co-fund this together?’ So there’s a few examples where SRF US has co-funded with other SRFs. And there’s a few examples where SRF has co-funded with other patient advocacy groups, right? You can’t do that as a single family. You need a patient advocacy group to build those relationships, to establish that trust. And to partner with other groups to pool our money to make it have a bigger impact. We focus our funds on things that are going to make a difference in our kids’ lives, and then we manage those grants. Oh, my great aunt gave $100,000 to pick a school. It’s so great. Who’s managing it? Who’s talking to them? Who’s following up every six months? Who’s seeing what they’re doing? Who’s making sure they’re doing anything? I don’t know. That’s not smart philanthropy, folks. So having the Syngap Research Fund here, we are actually managing grants from getting the grants to making sure the last payment in every penny is used. That is actually a pretty important discipline that we are very strong at here at SRF. It’s something I did in a couple of jobs before I came to SRF, managing grants for large philanthropies. So this is the work we do basically for free for our donors, right? And that’s where patient advocacy groups make a difference. We also partner with science and medicine. We push the scientists. We say, ‘Hey, what about this? Have you thought about this?’ The work with Helen Wilsey. Many, many things. She called us because she was looking for data. And then we were like, ‘Well, what about this?’ And what about this? And we really, I think, I’m sure Helen would have figured it all out very quickly. She’s a brilliant scientist. But I think she figured it out quicker because of our discussions and our working together. And we’ve pushed a lot of scientists towards better answers than they came up with by themselves sitting in their lab, you know, reading papers that were 10 years old and playing with mice. We connect efforts. Very often we say to this researcher and that researcher, you guys need to talk because you’re sort of doing the same thing but with different angles. And that has been very fruitful. Just the other week or month, Catherine organized a meeting about EEGs. And we had all these brilliant people around the world from Edinburgh to Stanford to Harvard to other places. In Boston, of course, and talking about how they’re thinking about EEG as a biomarker. And that was a meeting that happened because we made it happen. Otherwise, a bunch of scientists are all trying to beat each other to the finish line. And I think the thinking got bigger that day. Focus on therapeutics. Some scientists get really fascinated by really interesting scientific questions that frankly aren’t going to, we don’t give a damn. We care about things that are going to get us to better therapies now. Now I can hear a bunch of scientists being like, Mike, basic science is important because, I get it, but we care about therapies now. And so that is really something that we achieve by giving grants and engaging with scientists and making sure they can connect the dots between here’s what we’re doing and here’s how it’s going to get into a kid. And even though somebody came to me recently, it was here’s what we’re going to do: and we’re going to do all this work, and we blah blah blah, and I said, ‘explain to me how you’re going to get this from your lab into a kid in the next two years?’ They were like, ‘uh,’ I mean, they didn’t even know enough to fake an answer, right? They were just like, ‘that’s somebody else’s problem’. Reject. Reject. If you’re not thinking about and understanding how what you’re doing is going to get into a human, I don’t care. Because we exist not to further science for the sake of science. We exist to help children with Syngap1-related disorders. And then that’s the last thing— under partner with science and medicine— is we work in the clinic, right? We are engaging clinicians. We have excellent clinicians, Dr. Andrade, Dr. Helbig, Dr. McKee. Dr. Knowles, Dr. Sahin, Dr. Levine, Dr. I’m missing someone, Dr. Abbott, Dr. Demarest. There’s so many good clinicians out there who know about Syngap and see Syngapians, Dr. Grinspan, because we have begged them to, literally. These people see me at conferences and I’m like, Zach, when are you going to do the Ravicti study? That was three years ago. Ravicti studies wrapping up. which is creating a bunch of supply issues. But that’s a conversation from another time. And then we leverage the ecosystem. I talked a little bit about this, but industry, other patient advocacy groups, super PAGs like Combined Brain, Global Genes, and Every Life Foundation. These are organizations that work with patient advocacy groups, and they do a lot of incredible things. Combined Brain is the biobank. Global Genes has countless convenings and incredible networks. ELF is the premier organization on federal advocacy. I don’t think anyone else should be doing it. Your Syngapian isn’t going to benefit from what those super PAGs are doing if you don’t have a PAG that’s engaging with them, because super PAGs work with PAGs, and we work with other PAGs. As I said before, you know, we’ve partnered with OCNDS to do a grant in France, and we’ve partnered with a number of organizations to fund some work with Dr. Davinsky. Each of those partnerships results in Syngap getting in a publication. Syngap getting in a publication gives companies and scientists more information and more courage to keep working on Syngap. So you cannot leverage the rare disease ecosystem to find therapies for our kids if you don’t have an active, healthy, flourishing patient advocacy group, and that’s why you need the Syngap Research Fund. Finally, to ensure continuity, and people hate it when I remind them of this, but our kids are going to live longer than us, right? I’m going to be face down. In a box. I might get cremated. I haven’t even thought about this yet. But it’s going to happen to me, hopefully, before it happens to Tony. And then who takes care of Tony, right? But that’s sort of big picture. In real life, I’ve got volunteers right now. I’ve seen this happen. I’ve been at this for seven years. People come in. They’re swinging. They’re all in. One year, two years, and then right around year three, they’re like, ‘Ah, I can’t do it anymore. I’m so tired’. Something happened. Their kid gets bigger. Their kid gets sicker. Something else happens in their family. And that’s just real life. People come and go, right? So with volunteers, one day I might be like, ‘Guys, I’m done.’ I’m just— I can’t do it anymore. So far that hasn’t happened. Thank you, God. But our energy wanes, life happens. But Cure SYNGAP1 will never stop focusing on the biggest challenges in our lives. Children with SRD are the fact— they don’t have good enough therapies, good enough medicine, and good enough awareness, right? So by supporting the Syngap Research Fund, what are you doing? You’re empowering other families. You’re making sure that money is used as smart as possible. You’re ensuring that we’re partnering with scientists and clinicians. You’re leveraging the whole ecosystem of rare disease. And you’re ensuring that, as this organization gets stronger and more vibrant, we are able to continue to fight like hell for our kids. That’s why patient advocacy matters. And all of that happens because you give and because you volunteer. So please donate to the Syngap Research Fund. Please volunteer with us. I just want to point you to a couple of things because I’ve just spent my 10 minutes. First of all, the gala, which I mentioned before, was very successful, the fifth annual gala in Jersey. They made a beautiful YouTube, just faces and some nice music. Watch that, it’s great to see what a wonderful event that was. Beacon of Hope, as I said, is Saturday. Please join us. Technically, it’s too late for tickets, but if you’re suddenly in Boston and you want to come, give me a call. We’ll figure something out. Scramble for Syngap, if you’re a golfer is October 4th. Last I heard, all the spots were taken, but same answer. We can always squeeze someone in. There was a beautiful television interview that Julie Miles did. I share a link to that in the show notes. I even found out how to do a cool little TV emoji. I was very proud of myself. Check that out, Julie Miles is like just a machine down there in Greer, South Carolina. Every year she does this. She does it better each year. She raises more awareness. Everyone knows who Miller is. Great job. Hey, guys, I’m going to finish this up. The conference is in 88 days. The conference is in 88 days. Get on it. 97 people have registered. If you want one of them, register. Links in the show notes. There’s hotel rooms. The deadline is in two months, but I’m telling you right now that we’re going to, the room block’s going to go before then. It’s filling fast. Please book a hotel room. We have a block at the Georgia Tech Conference Center. Very nice rooms, very nice facility. We’re all going to be together. Get yourself a room, get it quick. Friday night is dinner. I think the maximum capacity is 100 or 120. We’ve already sold 20 seats for that. I’m excited about the venue. I’m excited about having a dinner close to where we’re all going to be staying. I’m pretty sure we’re going to be oversold on that one. So please, please, please buy your dinner tickets. You got to register for the conference. You got to get a hotel room. You got to buy dinner tickets. If this really creates a major financial strain for you, but you can come. Let us know. We’ll figure out how to get you in. We’ll figure out what we can do to make it accessible. I don’t want anyone not to come to this conference for lack of funds. And then, when you’re there, by the way, with your Syngapian, we will be drawing blood. This is something that I just want to say this out loud. You got to start planning for it now because a bunch of forms to fill out in advance. So you get there and it’s clean. You don’t have to waste time while your kid’s like, ‘Wow, there’s needles.’ It’s really important. A couple of follow-ups from other things. Back in episode 178, I talked a lot about elopement. A couple of things have happened since then. I wanted to share. There’s an article in People about a boy in Hershey Park who eloped onto a monorail and how this other guy rescued him. And then there’s just a statement by the National Autism Society, I just want to say. About elopement and how it’s a serious issue and how this is a time not to judge the family of a kid who eloped. I mean, who was doing that? But to really understand the challenges faced by autism families and the severity of elopement. So since I doubled down on elopement a couple weeks ago, I wanted to share that. I want to give a shout out to our tireless, fearless leader in Latin America, Vicky Arteaga. She is hosting the third scientific congress in Spanish on October 11th. Pretty amazing, Vicky. Pretty amazing. These gather clinicians and patients from all across Latin America and the States. I think the last one had well over 200 people. It’s a major, major event. It’s online, so it doesn’t cost as much, but it’s a tremendous way to share knowledge and raise awareness about Syngap. The other way is to connect with us on LinkedIn and share our content on LinkedIn. That’s where investors are. That’s where companies are, that’s where researchers and scientists are. Get yourself on LinkedIn. Make some noise about Syngap. 4,300 people plus follow Syngap Research Fund there. Make sure you’re one of them. Make sure your family adds to that number. YouTube, 1430, Twitter, Instagram, all the things. Also, if you haven’t signed up for Citizen Health, sign up for Citizen Health. 275 families have done that in the States. PubMed is at 42. We were in the 37th week of the year. I couldn’t be happier about the difference there. Newly diagnosed families on Tuesday. Tuesday, actually. In two days, there’s going to be a new family webinar for you. I didn’t realize that was in two days. I should have said that at the top. Oh, well, it’s too late. No, I’m not doing this again. Resources, podcasts, give us five stars. Thanks for listening. This has been episode 181 of Syngap10, aka the Cure SYNGAP1 podcast. It’s going to be a big week, guys. It’s going to be a big week. Watch this channel. Make sure you’re subscribed. Make sure you’re ready for updates. I’m hoping that I will be able to share some other news later this week that is… As a Californian would say it, hella exciting. Yeah.