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"...the urgency to act now, regardless of the cost, regardless of the pain that might come with an adoption like that. We knew we had to act."
Mark Shaeffer
"...when we landed at the second airport, (Story) was having rapid-fire seizures and doing so poorly. I finally sat in the wheelchair and just held her on my lap because she could hardly keep going."
Lynn Shaeffer
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July 12, 2023
Issue #33
Dear Family, Friends and Partners of SRF,
Thank you, Mark & Lynn Shaeffer, for telling us all about their journey with Story. If you haven't seen it yet, make sure you watch the video!
Have you shared the story of your journey? Each of us has a unique experience, and yours is worth sharing. Reach out to a local news source. Create a video. Reach out to Ashley to be a guest on SYNGAP1 Stories. Host an event.
Telling your story is one of the most important ways to generate interest in SYNGAP1 - with scientists, clinicians, researchers, doctors, and the world. We must continue to make noise and spread news. We must inspire others, including our own community, to take action and help us on our path to cure SYNGAP1.
For our kids - all of our kids,
Ed Gabler
Cole's Bapa & SRF Newsletter Coordinator
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SYNGAP1 news in Argentina!
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Light it UP for SYNGAP1!
EPM Emblematic building of Medellín, Colombia was all lit up in honor of our families and patients on SYNGAP1 Awareness Day.
So, for next year, contact your city - let's spread the word ...
...and spread the light!
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Eurodis is an organization of over 1,000 members specializing in the needs of rare disease patients. Congratulations!
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SRF has been accepted into TRAIN
TRAIN is a network of forward-thinking organizations sharing ideas and solutions with the medical research system. Collaboration is everything!
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We celebrated our birthday last month!
Revisit the first 5 years of SRF through this special edition of our newsletter and this blog post.
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SynGAP Soiree
Atlanta, GA - August 26, 2023
Information is here!
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Cannonball for the Cure
Crossing the USA in September 2023
Last year's information is here!
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Scramble for Syngap
Traveler's Rest, South Carolina
October 7, 2023
Information is here!
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SRF Gala Honoring Caren Leib
Bridgewater Township, New Jersey
October 21, 2023
Information is here!
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Are you holding a fundraiser this year? Let us know so we can add it!
See full calendar of events here
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CRITICAL STUDIES
Prepare For The Future
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- STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020)
- Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082)
CINEMAS STUDY (for those with mild intellectual delay, 1-18 years old)
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Inspirational Tales From the Blog
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SRF - Our Voice is Getting Louder!
Paulina Polanco shares her experience attending a conference in Mexico with Fondo de Investigación Syngap Director Vicky Arteaga.
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We have posted at least 10 new Blogs since our May newsletter - see them all here.
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All of us could use a little help now and then (or more often!). Share what's on your mind with the SRF community. Join us for a weekly Zoom Meeting - https://Syngap.Fund/SRFfam.
And for SYNGAP1 Grandparents, we have regular meetings for you too! Join monthly on the third Tuesday at 8:00 ET.
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Recent Webinars
Click on image to watch
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SYNGAP1 & SRF in the Press
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- Brain & Life recently published a podcast featuring SYNGAP1 families Marta Dahiya, MD and Paulina Polanco as well as Dr. Angel Aledo-Serrano, an epileptologist in Madrid. This episode is available in Spanish & English.
- SRF SAB member Richard Huganir, PhD published a preprint on Mouse models of SYNGAP1-related intellectual disability.
Here is a link to our webpage with stories of SRF & families in the news.
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Watch, Listen, Read, Stay Up To Date
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To keep up with the latest, breaking news, listen to Mike! Subscribe on YouTube, Spotify, Anchor, Apple, etc. - Syngap.Fund/10.
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Recent guests include Lauren Perry, Danielle Williams, Co-founder Ashley Evans, and Monica Harding. Syngap.Fund/Stories.
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Get To Know A Few Of
Our 192 Syngapian Warriors
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Read All Warrior Stories Here
Tell Us Your Warrior's Story Here
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