CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174

July 7, 2025 Week 28

 

ADAMS CAMP

https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/ 

 

CENSUS & WHY WE WILL SEE MORE PATIENTS

AAP recommends Whole Exome as a first line test for GDD/ID.

https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_

 

SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is. 

https://curesyngap1.org/census/

https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0

First patients from Bulgaria, Pakistan, Paraguay, and Uruguay.  US, Germany & France growing but UK standing still?

 

WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/

Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP.  17I thought it was worth noting the fast action this family is taking.

 

Martina - First patient from Uruguay. 

 

SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories

 

IMPORTANT SRF POSTS

Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/

 

VOLUNTEER SHOUT OUT

Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close.

 

CONFERENCE - DECEMBER 4th & 5th

Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta 

 

FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF

Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June!

 

WEBINAR

#108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars

 

PRESS RELEASE

https://curesyngap1.org/blog/prof-kristian-stromgaard-awarded-cure-syngap1-grant-research-biomolecular-condensates-pr40/ 

 

WHY OUR RESEARCH MATTERS

Bowie Lab Talk on Glutamatergic Neurons.  We learn about Intelligence from studying ID.

https://www.youtube.com/watch?v=sfcN2BuZOJw

 

NUMBERS

PUBMED 334, 26, so -1 vs. weeks.

Follow on Youtube and LinkedIn, they matter.

https://www.linkedin.com/company/curesyngap1/ 4,221

https://www.youtube.com/@CureSYNGAP1 1,390

 

#S10e173 CORRECTION

I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline.

 

NICOLE’S POST

I hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son.

Dear Syngap,

It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me.

I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace.

One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go.

You make him miserable. And I hate you for it.

You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears, when his body betrays him, when he fights a battle most will never see.

People don’t see what I see. They don’t hear the cries in the middle of the night or witness the exhaustion in his body. They don’t see the war raging inside him. And me? I’ve been called crazy, overprotective, dramatic. But I don’t care. I’ll wear those labels like armor. Because as long as my son is fighting, I will fight harder.

You tried to take so much from us. You tried to steal my marriage, tried to break my family apart, tried to strip away our joy. You’ve knocked us down, over and over again. But listen to me, Syngap: you will never have us.

And here’s the strangest thing. For all the hell you’ve put us through, you’ve also given me things I never expected. You’ve made me stronger than I ever thought possible. You’ve forced me to fight with a fierceness I didn’t know I had. You’ve shown me how to love deeper, to celebrate what others overlook, to appreciate moments most take for granted.

You take and you take—but somehow, you also build. You break, yet somehow, you make us unbreakable.

But hear me loud and clear: you don’t win.

Tomorrow, my son will wake up, and despite you, he will rise. He will smile. He will fight. He will accomplish things you never thought he could. And I? I’ll be there, standing beside him, fighting for him, daring you to try and stop us.

You don’t get the final say, Syngap. Not today. Not ever.

My son is more than you. And you have underestimated his mother.

Sincerely,

A Syngap Momma