Saturday, July 4, 2026 – Week 27
#Future4Ford! Already at $3,500+! Share. Thank you to the Family.
This is the model for newly diagnosed, call us, set up a page, help us help your loved one. cureSYNGAP1.org/4Ford
CENSUS – 1,806 https://curesyngap1.org/blog/syngap1-census-2026-update-45-q2-total-1806/
Per https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?usp=sharing, no change in Germany, UK, or Netherlands. This is clearly wrong.
MERCH – 9 days left!
New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire
CAMP4 has been busy!
Meeting with one of our families: https://www.linkedin.com/posts/syngap1-share-7473374060614201345-SeKO/
Shoutout on NASDAQ: https://www.linkedin.com/posts/camp4-therapeutics_syngap1awareness-regrna-syngap1-activity-7474823632972820480-UMqi
$CAMP closed at $4.43 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ
BONES – This is not medical advice, I am not a doctor. Talk to a doctor AND know your facts. https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/
Valproate is the active Ion, it comes from Valproic Acid (Depakene), Sodium Valproate or Divalproex Sodium (Depakote). They all cause bone loss by stoping stomach from absorbing, then robbing bones, then flushing out. More and longer is worse. Vitamin D and Calcium can help but they need to start early and it’s better to just find another drug. Also insurance likes it because it’s cheap and old – demand better.
“Valproic acid and clobazam were commonly used for epilepsy treatment, while risperidone, aripiprazole, and guanfacine were commonly used for behavior management. Valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than other anti-seizure medications.” Clinical signatures of SYNGAP1-Related Disorders through data integration https://pmc.ncbi.nlm.nih.gov/articles/PMC12419475/
THINGS TO LOOK FORWARD TO…
5TH SCRAMBLE FOR SYNGAP, SC – 91 days till October 3rd
Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26
SHOOT FOR SYNGAP, UT – 133 days till November 14th
cureSYNGAP1.org/Shoot26
FIGHT FOR FELIPE, MA – 148 days till November 29th
cureSYNGAP1.org/Fight26
CURE SYNGAP1 CONFERENCE – 152 days until December 3rd & 4th
cureSYNGAP1.org/Denver rooms available: cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday.
PUBMED
Pubmed 2026 is at 40. +13 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateterm…
Thanks to Dr. Stephen Smith for this exciting paper, especially in the context of ASOs…
Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation https://pubmed.ncbi.nlm.nih.gov/42362191/
USA 🇺🇲: Use your ICD-10, F78.A1
SOCIAL MATTERS
5,106 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
1.59k YouTube. https://www.youtube.com/@cureSYNGAP1/
11.1k Twitter https://twitter.com/cureSYNGAP1/
43.7k Insta https://www.instagram.com/cureSYNGAP1/
Like and subscribe to this podcast wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10/
Episode 212 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy
Below is a transcript from the video:
[ 00:00:01 ] Hello, Syngap Land. Happy 4th of July. Today is Saturday, July 4th, year 2026. We are in week 27. I want to start by giving a shout-out to Future for Ford. It is a fundraiser that a newly diagnosed family is doing. They’ve already raised $3,500. Their target is $20,000. Big thanks to that family. The link is curesyngap1.org/4ford. This is the model, guys, for newly diagnosed families. When you get diagnosed, there’s a lot going on. But when you decide to share with your community, if you share that with a link like we did for Ford, you can activate all the goodwill of your community and help raise money for CURE SYNGAP1.
Inevitably, what happens when families get diagnosed— they get diagnosed, they’re disoriented. We don’t want to throw this at them: “Hey, please do a fundraiser.” But then they start talking to us and they start asking questions. They say, “What about this? What about this? What about this for my mutation? What about these drugs? How do I get to a natural history study? Oh my gosh, this is— oh, this is so exciting. I’m so glad you’ve done all this work. How can I help?” There’s a lot of ways you can help. You can volunteer, you can join our committees, you can join our teams, you can join the board, and… every single family can raise money because every single thing we do for you, Lauren,
[ 00:01:05 ] as support, answering the phones, recruiting for trials, getting Syngap out there, going to conferences, raising awareness, partnering with companies and CAMP4— every single thing costs money. It’s just like real life. There are no special rules for patient advocacy. We don’t get discounts, right? Everything costs money. So if every family chooses to raise money, that is when we get to move faster. And generally, we find that that initial fundraiser when you’re announcing your diagnosis tends to be really effective. So I really want to celebrate and thank the Future for Ford fundraiser, curesyngap1.org/4ford. Share it, be inspired by it. Let’s keep doing more.
Other big news, more work. The Syngap census came out. We update this every quarter. So July 1st, three days ago, we updated it. The census is at 1,806 worldwide. More than 500 of those are in the U.S.
[ 00:01:53 ] Notably, if you click on the article, in the article we link to the backup spreadsheet. Germany, UK, and the Netherlands haven’t had any change in their numbers for, like, a couple of quarters. This makes no sense. All those are big countries where people get diagnosed all the time.
[ 00:02:09 ] What I’m pointing out here is that, um, sometimes it’s hard for our different groups to get us updates, or sometimes people just don’t get around to it, whatever. Um,
[ 00:02:18 ] even without complete updates, we still had 44, 45 more patients identified on our lists
[ 00:02:25 ] this quarter. That’s pretty exciting. And that number continues to grow. So what you need to know is that 1,806 is what we know about who were diagnosed. There’s a much bigger number who were diagnosed that we don’t yet know about. And then there’s a much bigger number who are undiagnosed and nobody knows about them. Our job: make that number as big as possible. Connect with every patient, help the people who are undiagnosed get diagnosed, get more kids diagnosed, because you’re not going to have access to genetic therapies if you’re not diagnosed, right? There’s also a million other reasons you want to know your genetic cause of your disease. I could go off on this for hours, but… punchline for now:
[ 00:02:58 ] you need to get diagnosed and you need to be in touch with the patient advocacy group so we can let you know what’s going on.
Merch: there’s nine days left to buy merch from our current campaign, which is curesyngap1.org/bonfire, B-O-N-F-I-R-E. Why Bonfire? That’s the name of the company who does it. We’re batching the t-shirts now. So, if you want a t-shirt, we have the “I Love a Syngap Warrior,” the “Love Hope Cure.” We have some cute little ones about elopement and… other Syngap things. So check those out. You have nine days left to buy a t-shirt.
I want to give a shout-out to our friends at CAMP4. They had a meeting with one of our families. They had a LinkedIn post about that. Always great news when families talk to industry. In fact, I want to see more of this. I’m actually thinking about doing a training next year to help families get ready to go and present to companies so that our core team— myself, Virginie, Lauren, and Kathryn— don’t feel like they have to go everywhere. It’s just too much work. I’m really grateful to this couple for going and presenting to CAMP4. We have another couple who will be presenting to BridgeBio, I think next month. It’s very exciting, very exciting stuff. And I’m grateful. CAMP4, by the way— oh, the other thing about CAMP4: they got a shout-out from NASDAQ.
[ 00:03:59 ] So NASDAQ has that big board in Times Square. Put a link in the show notes to the picture. And basically, NASDAQ gave them a shout-out for all their work on Syngap1 therapy. So not many rare diseases have their name on the board in, in, um, New York. It’s pretty exciting. Good job, CAMP4. They closed at 4.43 yesterday. Check them out.
I’ve been talking to a lot of newly diagnosed families lately. I should have put this after the census, but I didn’t. And I’ve had this conversation, like, three times with three different parents. And so I’m just going to share it here one more time so that people can come back to it and reference it,
[ 00:04:31 ] and that if you get into it with your doctor, you can share this video with them and you can ask them exactly what I’m saying here that is not true.
[ 00:04:39 ] Okay, I am not a doctor. This is not medical advice. I’m encouraging you to talk to your doctor. And I’m warning you, your doctor’s not going to have a lot of patience for this conversation.
[ 00:04:47 ] So I’m asking you, when you bring this up with your doctor, to have them be really specific. In fact, giving you a recent paper would be a good thing to do as to why their answer makes sense. Because a lot of the times the doctor’s answers are not making sense. I know this because I’m talking to family after family after family who is having this conversation.
Start by reading our article on bones. curesyngap1.org/bones will take you to the long link. It’s in the article. There are two families in there—
[ 00:05:14 ] a 40-something and a 30-something, maybe he’s 20, whatever. Older patients. One had a drop seizure, one tripped, both of them fell, both of them shattered their legs. Hospital X-ray, doctor looks and says, “What’s going on here? Why does a kid this age have legs that are this frail? I don’t understand.” And then both of these caregivers, these moms, spent months— not days, not weeks, months— taking care of a Syngapian, a big, strong Syngapian who couldn’t walk.
[ 00:05:42 ] If that’s your idea of fun, you can ignore this next part. But if you, like me, plan on taking care of a Syngapian until the day you die, listen up.
[ 00:05:53 ] There are medications that we are being given for seizures that destroy bone density. This is well known and well understood, and neurologists are just not thinking about it because neurologists are trying to whack the mole of seizures. “No more seizures! This drug stops seizures. Boom. I did a good job today.” What they’re not thinking about is that once we get on those drugs, we are on those drugs for months and then years and then decades.
And some of these drugs specifically— valproate. Valproate is… either valproic acid, which is also known as Depakine, Sodium Valproate, or divalproex sodium, which is known as Depakote. Most of you are on Depakote. All of those different words I just rattled off are all different drugs that get the exact same ion into your patient. Valproate is the ion. That ion does stop seizures. It also… goes to the gut and screws up the gut’s ability to absorb calcium. Turns out the body needs calcium to do important things like make your heart beat, right? So the body will steal calcium if it can’t get it from food.
[ 00:06:56 ] So if you’re taking a drug that stops your stomach from getting calcium and your body wants to keep your heart beating, what does it do? It steals calcium. Where does it steal calcium from? Your bones.
[ 00:07:05 ] And that is how, when you put a 30-year-old on Depakote, you start thinning their bones. We know from Karen and others that our Syngapians are going to live till 50, 60, 70 plus.
[ 00:07:18 ] So if you put a patient on Depakote at 30, when they’re 60, their bones are going to be frail. And when they bounce into something, they’re going to break something. And we know that when you break bones at an old age, especially if you’ve got Syngap, things get ugly,
[ 00:07:36 ] which is why I say repeatedly: do not accept valproate as the main drug for your kid. Ask for a better drug.
[ 00:07:46 ] I’m not saying that because it’s not a good seizure drug. It’s a great seizure drug, but it also has a significant deleterious impact on bones. Now, the doctor is going to say, “Oh, the bone problem. That’s right. Let me give you Vitamin D and calcium.” First of all, they should have done that on day one of the drug. This is in the literature. Second of all, it’s not enough.
[ 00:08:05 ] Third of all, the longer you’re on this drug and the more of the drug you’re on, the more bone damage happens.
[ 00:08:11 ] So why can’t you get off the drug? This drug was developed in the 1970s. We’ve been developing better drugs for decades since then. Ask for a better drug. Ask for a better drug.
Now, here’s the real problem with this. There are two big problems with this. First big problem with this is insurance companies like it because it was developed in the ’70s and it’s cheap. Second big problem with this is if you go to the best paper on Syngap, which was written by McKee a couple of years ago based on the natural history study, she has this great line in here: “Valproic acid and clobazam were commonly used for epilepsy treatment, while risperidone, Abilify, and guanfacine were used for behavior management. Valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than any other seizure medications.”
[ 00:08:53 ] This is true based on the data that Dr. McKee reviewed. This is true, and that’s why she published it when she circulated this draft. I said to her, “I don’t like this. I don’t like our kids on this paper.” She said, “Mike, it’s true. This drug has done the best job.” It’s done the best job because it’s one of the oldest drugs out there. A lot of our patients are on it and it does work.
What is ignored in this paper is the damage that has been done to their bones because we haven’t measured it. The doctor’s— neurologist’s job is to stop seizures. Our job as parents… our job as parents is to ensure the long-term health of our kids, and that includes their bone health. So please, read the bone article, read the medical article, read the Syngap paper, call your doctor and say, “Why am I on Depakote? Is there a better drug?
[ 00:09:41 ] Is there a better drug?”
There are lots of fundraisers coming up. PubMed’s got some good stuff I’ll talk about in the next episode. I’m at my 10 minutes. Thanks for listening. Happy 4th of July.