“Villagers of the rare disease community are comprised of parents themselves, moms and dads in search of answers, support, and the holy grail: a cure for the disease affecting their children.”
Jo Ashline, SYNGAP1 Mom - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
|
|
HAPPY 5th BIRTHDAY, SRF!
|
|
This issue is passionately dedicated to every individual with SYNGAP1, including those yet to be diagnosed. SynGAP Research Fund has devoted all of our past work, as well as what we will accomplish in the future, to you.
To our readers, this collection of milestones achieved during SRF's first five years may take more than one sitting to complete, but I guarantee - it's worth every moment! Please take time to savor the highlights at your leisure, then buckle up for our future!
Also, it is impossible to name everyone to whom we owe a debt of gratitude for the memories that follow. Founders, partners, volunteers, board members, scientists, industry, families, etc. are too numerous to name, but we see you! Thank you all for making the past five years so successful.
|
|
June 27, 2023
Issue #32
Dear Family, Friends, and Partners of SRF;
In May of 2018, I hadn't heard of SYNGAP1, Mike had short hair, and SynGAP Research Fund didn’t exist. All of that changed soon enough. SRF was incorporated on June 27, 2018. The first census in July of 2019 counted 431 individuals with SYNGAP1 worldwide. Our first newsletter was six pages long and published in January of 2020, and SYNGAP10 premiered in March of 2021 - its length? One second short of 10 minutes.
SRF has grown during the past 5 years. We’re at 1,215 in the census, and Mike’s hair is no longer short. As for the newsletter and our flagship podcast ... they're also not as short as they used to be! The length of both are a testament to everything our volunteers and industry partners are accomplishing. There is so much going on!!
Thank you, Mike and Ashley, for your vision and leadership, for laying such a strong foundation, and for inviting us all to help build the SRF house and community.
For our kids - all of our kids,
Ed Gabler
Cole's Bapa & SRF Newsletter Coordinator
|
|
"The mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems."
SRF Mission Statement
|
|
|
SRF IS FORMED
June 27, 2018
Tony was 3 years old when he started having seizures. In March 2018, Mike Graglia and Ashley Evans received his SYNGAP1 diagnosis.
On June 27, 2018, SynGAP Research Fund (SRF) became a non-profit public benefit corporation for charitable purposes, and a hopeful future for our families was born.
|
|
|
“Seems like one day all of the sudden BAM!
I started seeing Syngap posts on Facebook from this random guy named Mike. He seemed like he really knew what he was talking about.
I remember specifically seeing a post with a photo of an adorable little boy
drinking whipped cream…. I thought, man, I need to start following this random guy and see what they are doing.”
Lauren Perry, SYNGAP1 Mom & SRF Operations Manager
|
|
"Do what you can.... Maybe you can fundraise for SRF. Build a website. Form a SYNGAP group. Keep a blog with tips for new parents. Listen to other folks asking for help and step up in the way you can."
Hans Schlecht, MD, SYNGAP1 Dad & Translating Science to the Clinic Group Leader - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
|
SRF GOES INTERNATIONAL
November 27-28, 2018
SynGAP Research Fund attended the 2nd International SYNGAP1 Conference with SRF Australia and Overcome Syngap1 at the Scripps Research Institute in Jupiter, FL.
|
|
|
THE FIRST WARRIORS - THEN & NOW
January, 2019
|
|
"This charity has been an amazing source of comfort, information and hope for our family and our son Bear, diagnosed with Syngap. What has been a difficult journey has been made so much easier because of SRF."
Katrien Deckers, SYNGAP1 Mom & SRF EU Chair - Great Non-Profits Review - 10/3/2020
|
|
|
FIRST GRANTS
January through March, 2019
In early 2019, SRF awarded its first grants to Jimmy Holder, MD, PhD; Gavin Rumbaugh, PhD; and Richard Huganir, PhD in the amount of $835,000. This recent pre-print was from the work of one of these grants! Since inception, SRF has awarded over $4M in grants!
|
|
"SynGAP sucks. What it does to our kids’ brains and lives is heartbreaking. Scientists are working hard every day to understand SynGAP better and find treatments. Many dedicated organization leaders and advocates are out there trying to speed things up and connect the dots. The best part besides our wonderful SynGAP warriors? The community! We will listen, support, cheer, cry, scream and help every step of the way. You are not alone!"
Virginie McNamar, SYNGAP1 Mom & Co-Founder SynGAP Global Network - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
|
TO NEW PARENTS
April 15, 2019
SYNGAP1 Mom and SRF Co-Founder Ashley Evans shared a timeless message to new parents.
|
|
|
"This is not a club that you would have chosen to join...but it is a group of hundreds of parents who uniquely understand the particular form of suffering you experience in watching your sweet child struggle...."
Ashley Evans SYNGAP1 Mom and SRF Co-Founder - A Message to the Newly Diagnosed SynGAP-1 Parent - 4/15/2019
|
|
|
FIRST CENSUS
July 15, 2019
SRF shared the First Global Census counting 431 SYNGAP1 patients. (prelim. chart shows 364) All census posts are here.
|
|
|
|
A GLOBAL VILLAGE
September 23, 2019
The Global Village of SYNGAP1 Leaders was introduced in this blog. We owe all of them so much!
|
|
|
"In the few short years since this organization's inception, it has pushed forward at an incredible speed to help find answers and better treatments for patients with SynGAP. Their clear mission, determination, and collaborative spirit has already helped bring a great deal of focus to this rare disorder."
Maryanne.m - Great Non-Profits Review - 11/12/2020
|
|
|
FIRST WEBINAR
October 15, 2019
Our first webinar featured SYNGAP1 parents sharing their experience with Keto & their Syngapians. We now have 79 webinars available on our website!
|
|
|
|
FIRST NEWSLETTER
January 14, 2020
In SRF's first newsletter, the global census was up to 484, we looked back at 2019 accomplishments, and we looked forward to 2020 for MDBR, Splash, Global Genes, & another AES Roundtable.
|
|
|
|
FIRST BOARD EXPANSION
April, 2020
In 2020, the SRF Board of Directors expanded from its original 7 to 12. The Board changes regularly, and since 2018 has been represented by 22 SYNGAP1 families.
|
|
"SRF has made such a positive impact on our lives since our daughter's diagnosis almost a year ago. They have connected us to a network of people ready to engage and help, and they have also given us a feeling of hope…."
M. Marinho - Great Non-Profits Review - 2/9/2022
|
|
|
FIRST MDBR
June 13, 2020
While the world was virtually shut down due to COVID, SRF participated for the first time in the 7th annual MDBR, a virtual event.
|
|
|
|
FIRST ROADMAP
June 18, 2020
The first roadmap into SYNGAP1 research was presented as a webinar. This information was converted into a blog on July 22, 2020.
|
|
|
|
SRF & NHS
August, 2020
SRF joined Ciitizen to collect patient data in preparation for future trials. Natural History Studies, such as Ciitizen, Simons, & Rare-X, will help researchers better understand SYNGAP1.
|
|
|
"We need to be investing our energy into participating in data registries…as well as Natural History Studies which will fast track the regulatory approval of treatments when they arise."
Danielle Williams, SYGAP1 Mom to 2 Syngapians, SRF Australia Co-Founder, & SynGAP Global Network Co-Founder - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
|
CELEBRATING CAREN
February 26, 2021
The movie “Celebrating Caren” premiered featuring the life of a 65-year-old Syngap patient diagnosed in 2020. Everyone should watch this award-winning film.
|
|
PRIMER CONGRESO ESPAÑOL
February 2021
SRF participated in the first Congreso Internacional en Espanol para Conocer el Sindrome Synagp1 (International Congress in Spanish to learn about SYNGAP1 Syndrome). It was virtual and led by Victoria de Guzman.
|
|
“It’s a difficult journey the one we have to make, but we are not alone. There is an incredible support and family group, take your time to accept the situation, there is no need to hurry up, this is a long-distance journey.”
Gonzalo Bermejo, SYNGAP1 Dad & SYNGAP1 España Co-Founder & President - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
|
FIRST PODCAST
March 12, 2021
The first episode of SYNGAP10 aired, updating SYNGAP1 families on what's happening in the SRF world and explaining what SynGAP Research Fund is doing to help families. At last count, we're at 107 episodes, almost all featuring Mike's trademark delivery filled with compassion and enthusiasm!
|
|
|
|
FIRST SPRINT
April 24, 2021
SYNGAP1 families from near and far participated in the inaugural Sprint4SynGAP. Over $124,000 was raised in its first year! Sprint unofficially kicks off the SRF fundraising season each year and has grown, raising over $247,000 in 2023.
|
|
|
ICD-10 CODE
October 1, 2021
The SYNGAP1 ICD-10 Code went into effect in 2021. Having an ICD-10 code helps our patients get access to services, medicines, and attention more easily.
Make sure your doctor has this code!
|
|
|
"You have spent many thousands more hours with your child than any clinician. You understand this disease with more detail and nuance than any of them ever will. So, share insights and data with them, and every other researcher."
Ashley Evans, SYNGAP1 Mom & SRF Co-Founder - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
|
FIRST CANNONBALL
FOR A CURE
October 6-8, 2021
Three SYNGAP1 Dads drove across the country to raise money and awareness, all while streaming it live the entire way! Read about both 2021 & 2022 drives here.
|
|
|
|
FIRST CAREN LEIB GALA
October 23, 2021
In New Jersey, 90 attendees, including 16 SYNGAP1 families, gathered to celebrate Caren - the oldest known Syngapian in the US - at the first annual Gala.
|
|
|
|
FIRST SOIREE
November 12, 2022
The first SynGAP Soiree Sparks of Hope lit up Atlanta for a new fundraiser. The night featured a pre-cocktail party, silent auction, live auction, dining, and a whole lot of fun!
|
|
|
|
FIRST FAMILY CONFERENCE
December 1 & 2, 2022
SYNGAP1 families and scientists working toward a cure came together in Nashville, TN for the inaugural Conference hosted by SRF. The first day was all about Science, followed by Family Day on day two. New friends were made, and important work was shared.
|
|
"There aren't many positives of having Syngap1…having SRF driving our community forward with such passion and drive is a massive positive - as well as being incredibly comforting and inspiring."
Charlotte L. Holden - Great Non-Profits Review - 9/27/2021
|
|
|
SECOND PODCAST
January 23, 2023
Our second podcast, SYNGAP1 Stories, was launched in early 2023. While SYNGAP10 summarizes what’s going on in the SRF world, Stories talks to individuals about what’s going on in in their world, living with SYNGAP1. 11 episodes have aired so far, including the most recent with SRF Co-Founder Ashley Evans
|
|
|
|
FIRST
PADDLE SLAP
May 20, 2023
Pickleball came to Oxford, MS at the first annual SynGAP Paddle Slap. Twelve teams and countless spectators and fans were on hand. Everyone had a 'ball'!
|
|
|
|
PRÓXIMAMENTE:
¡EL TERCER PODCAST DE SRF!
Coming Soon - SRF’s 3rd Podcast: SYNGAP1 Café - en español con video.
|
|
|
SYNGAP1 CONFERENCE 2023
HOSTED BY SRF
Have you reserved your room? Book it now!
Pre-register to receive the latest information as it becomes available!
Not sure you should travel with your Syngapian?
Listen to this podcast from our friends at CTNNB1
We hope to see you there!
|
|
"...the SRF community has truly been such an incredible resource to our family and the glue that has held us up on some of our absolute hardest days."
Julie Miles, SYNGAP1 Mom, SRF Volunteer - Great Non-Profits Review - 2/8/2022
|
|
"We know there is no cure yet. Don’t lose hope. Don’t lose patience. Be loving and caring to your kids.... The researchers are working on it: it’s just a matter of time."
Amit Mandora, SYNGAP1 Dad & SYNGAP1 India Founder - Meet the Global Village of Syngap Leaders - 9/23/2019
|
|
RAISE MONEY - HOLD A FUNDRAISER
Sprint, bike at MDBR, help with someone else's event, plan your own event, etc..
|
|
MAKE A DIFFERENCE - VOLUNTEER
|
|
SPREAD AWARENESS OF SYNGAP1
Check out our full brochure here!
|
|
|
|
