Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research – PR22

SynGAP Research Fund (SRF) was “born” in 2018 after a boy named Tony was diagnosed with SYNGAP1-Related Disorder (SYNGAP1 or SRD). His parents wanted what all parents of a child afflicted with a rare disease want – an immediate cure. Unable to find a patient advocacy group dedicated to research, Mike Graglia and Ashley Evans took matters into their own hands. They talked with scientists, and though basic research was underway, they believed that a science-focused patient group that was willing to advocate for faster therapies could accelerate SYNGAP1 progress. So Mike and Ashley formed SRF, an organization open to and supportive of all SYNGAP1 families. Less than six years later, this ever-expanding non-profit entity has succeeded in fundraising an impressive $5.75 million in the name of SYNGAP1. Hope grows daily that a cure is on the horizon. 

In 2019, SYNGAP1 mom and SRF volunteer, Jo Ashline, wrote a blog titled, Meet the #GlobalVillage of #SyngapLeaders, profiling several Syngap parent advocates from SRF and Syngap Global Network. Since 2019, SRF has grown from a small handful of amateur parent volunteers to a professional, well-oiled machine. To reflect this growth and meet many of the new faces of SynGAP Research Fund (as well as revisit several from the past), we have assembled at least 50 brief stories from volunteers who believe wholeheartedly in supporting SRF and helping all those with SYNGAP1. They all collaborate daily on a laser-focused goal: accelerating the science to cure SYNGAP1! Together, we can improve the prognosis and quality of life for our children. Join us!

Peter Halliburton, SRF Development Director + SRF Board of Directors

See official Press Release here.

(Click on the family name to go directly to their statement)

1) Rebecca Kohlhepp; Pennsylvania; Autumn, Age 15, Diagnosed: March, 2011

I volunteered for three years as SRF’s Treasurer and CFO and continue to support the fund’s mission. I was apprehensive of volunteering at first. The Managing Director, Mike, had asked for my support just before the birth of my third child when SRF was launching. Anticipating the exhaustion of having a new child and having recently parted ways as a volunteer with a different organization, I needed a break. Just under a year later, I attended the first Syngap Roundtable at AES. SRF needed somebody in the financial seat, and I offered to fill it until a more permanent candidate could be found.  

The energy, drive, and determination of a core group of people driven to support SYNGAP1 reignited my interest, which is how ‘interim’ turned into three years. I had a unique view from behind the scenes and can personally vouch for the fact that the founders were covering all of the operational overhead. This benevolence is nearly unheard of and instilled an immense respect for the founders; they wanted every dollar to go to research. The amount of funds raised and personally donated by the founders over the years to drive research, to look for therapies for our children, is an incredible gift to the Syngap community.

SynGAP Research Fund lives and breathes its mission statement to improve the quality of life for SYNGAP1 patients and their families. SRF created a space for families to connect and to support each other on an ongoing basis. This connection with families living your reality was invaluable when the world was shut down from COVID and remains a safe space today for families to connect and lean on each other.

SynGAP Research Fund is led by a passionate team who is changing the lives of Syngap patients and their families. They operate with integrity, transparency, and undaunted drive, and I am so thankful for Mike’s unyielding determination and leadership.

Rebecca Kohlhepp, SRF Volunteer

SYNGAP1 families at the SYNGAP1 Conference, Orlando, December 2023

2) Yulia & Ivan Surovtseva; Branford, CT; Misha, Age 16, Diagnosed: 2012 

Ivan and I are scientists at Yale, so quite familiar with both basic cell biology and also translational science approaches where basic scientific discoveries are used to develop new treatments. Our son Misha was diagnosed with SYNGAP1 deficiency in early 2012, at 4 years of age. I remember feeling a huge relief because we finally understood the reason behind his struggles. I also remember feeling hopeless because very little was known about SYNGAP1 back then, and if we don’t understand a disease, we can’t treat it.  

So much has changed since our introduction to SYNGAP1, with SynGAP Research Fund contributing tremendously to the progress and success of SYNGAP1 research. Funding grants, recruiting new investigators, providing research tools including patient-derived samples, and truly building an expansive network of scientists focused on understanding how Syngap works and what goes wrong when the gene is mutated is work by SRF that’s critical for future therapeutic development efforts. In addition to supporting scientific research, SRF is also heavily focused on clinical trial readiness. As scientists, we recognize the major challenges associated with treating genetic disorders like SYNGAP1-Related Disorder. With that said, we also appreciate the remarkable progress in this field, with genetic therapies for several diseases now being approved and in clinic, in addition to drug repurposing that is showing tremendous results. This is a good time, the hope is real, and SRF is ready for continued action!

Last but not least, what truly makes SRF special to us is the community. Being the parents of a rare disease child with complex needs is isolating. SRF builds and cultivates a community of parents, family members, friends – all wonderful people who understand Syngap, and who are always there for each other.  We are incredibly grateful to SRF for all the fund is doing to support Syngapians and their families, and we are doing what we can to leverage our scientific background and expertise to contribute to these efforts.  

Yulia Surovtseva, SRF Volunteer- Ivan Surovtseva, SRF Volunteer

3) Marta Caceres Dahiya; Fort Worth, TX; Sofia, Age 21, Diagnosed: March 15, 2013

For 16 years, I didn’t have the sense of a community that could help me understand what was happening with Sofia. I didn’t know any families who were going through similar experiences. It was upsetting and difficult to see my daughter make very little progress despite undergoing a full-time schedule of therapies. I was isolated, without friends with whom I could relate. I always wanted to do more than simply care for my daughter – I wanted to help her. Without community, I couldn’t utilize my physician skills to help make a difference for Sofia and others like her.

Before 2019, I had limited engagement with SYNGAP1 families, but I felt that the community needed to be more cohesive. In 2019, I was given the fantastic opportunity to volunteer for SRF. Mike saw my potential and guided me to be one of the clinical leads for SRF. I’m immensely grateful to Mike and Ashley for the opportunity and for starting and leading SRF to be the unique organization it is today. I’m also thankful for dozens of others in SRF with whom I have worked closely and who have taught me so much in every aspect of SYNGAP1. Because of the SRF community, I have implemented changes in my daughter’s care, resulting in an improved quality of life. My spirit sometimes diminishes due to the challenges of raising a child with SYNGAP1, but it bounces back because of the SRF community support.

SRF has achieved many life-changing goals that have positively touched many SYNGAP1 families. SRF is built on a clear vision and mission, strong leadership, a culture of collaboration and respect, a focus on innovation, ethical and social responsibility, inclusion, adaptability and agility, and community engagement. Everyone can find a role to play, no matter their background. It is the best organization I have been part of, hands down!!

Marta Caceres Dahiya, SRF Clinical Director + SRF Board of Directors

Mike and Marta

4) Olga Bothe; Houston, TX; Drew, Age 16, Diagnosed: June 13, 2013

In June of 2013, our five-year-old son, Drew, finally received a diagnosis to help us understand his global developmental delay, epilepsy, low muscle tone, and lack of verbal speech. Being one of the first families to receive this rare diagnosis of SYNGAP1 in the United States, we immediately jumped into investigative mode. While somewhat relieved to know that Drew’s condition was not life-shortening, we had a lot to learn about this new path.

Minimal SYNGAP1 research was being conducted in the U.S., as the first human case was just discovered in 2009. We are fortunate enough to live close to one of the largest medical centers in the world, so I was able to resource a competent research neurologist who was also willing to take Drew on as his patient and begin researching and exploring SYNGAP1 further. I co-founded another organization, but as Drew’s care became increasingly complex, his well-being became my priority. I stepped back from my role to focus more on Drew and his complex needs. A few years later, I learned about the formation of SynGAP Research Fund (SRF) and its focus on finding a treatment to improve the lives of families and children with SYNGAP1. I was excited about the possibilities this organization provided.

SRF was and remains a cohesive and welcoming organization with established goals and plans. The leadership was respectful and considerate of my past work with SYNGAP1 and brought me on board without hesitation. SRF is like a family that brings out the best in all its volunteers and supporters. I have been involved with SRF in many different volunteer roles, including Board of Directors Co-Chair. Currently I work on the scientific webinar team and enjoy bringing these important presentations to fruition. Additionally, I attend rare disease advocacy events and conferences. It’s an honor and a privilege to be involved and engaged with the amazing team at SRF.

Olga Elizabeth C. Bothe, SRF Volunteer

Lauren, Olga, and Katrien

5) Laura and David Green; Atlanta, GA; Ellie, Age 22, Diagnosed: June 10, 2014

As we near the tenth anniversary of Ellie’s diagnosis, I am filled with gratitude for the work and the people of SRF. Ten years ago, the landscape for research, community, and hope for our children was bleak. We were the first family in our neurologist’s practice to be diagnosed with SYNGAP1. At the time, we could only find a handful of patients worldwide and one SYNGAP1 researcher in Canada. Recently I took Ellie to her neurology appointment and, as we were leaving, we passed Suzanne and Jansen Jones on their way in. How did I know them? Through SRF, of course! Both Suzanne and I were there to discuss new possibilities for exciting drug therapies on the horizon. I am amazed at how the SYNGAP1 landscape has been changed by the impact, influence, and reach of SRF.

We give our time and resources to SRF because we found in this patient advocacy group a founder, Mike, and a team of volunteers who have always led with results, intelligence, and compassion. They work tirelessly to connect families, doctors, scientists, experts, and donors, as well as drive meaningful research that will improve the lives of our families. At the same time, the organization is a grassroots, family-driven, volunteer-run operation full of some of the smartest, most dedicated, and warmest parents I have ever met. It truly is an inspiring group that fills our lives with hope and community.

Laura Green, SRF Volunteer, 2023 Syngap Soiree Host Committee & Solicitor of Fortune 500 Corporate Sponsor

6) Aaron & Monica Harding; San Diego, CA; Jaxon, Age 18, Diagnosed: December 8, 2015

Upon being diagnosed, we began to connect with an international community made up of fewer than 100 patients at the time, who have since become family. Immediately, I began serving as an advocate and in a science role in conjunction with other SYNGAP1 families for two years. In 2018, I teamed up with SynGAP Research Fund, founded by Ashley and Mike, at its inception. I have served in many roles with SRF. Currently, I’m on the Board of Directors, Medical/Science Team, and Grants Management. I also serve as the SRF Historian.

Why is SRF different? At the second Syngap Conference, Dr. Gavin Rumbaugh told me that SRF will be able to fund critical research that U.S. federal grants can’t. What has been impressive about SRF is its ability to collaborate with the broader rare disease community on projects to help Syngap patients. Mike has built a team of volunteers in which everyone is encouraged to play a role in making a difference for their loved one, even those with a time-restricted life. The result of such teamwork is the awarding of $5.75 million in research that has some SRF parents participating in a clinical trial, Ravicti. Based on drug repurposing research, we are hoping to initiate more clinical trials in the near future. Be a part of amazing where Connection is Everything!

Aaron Harding, SRF OG + SRF Board of Directors
Monica Harding, SRF Volunteer

SRF Board Retreat, Washington, D.C. 2024

7) Summer & Adam Slaght; Missoula, MT; Ryker, Age 12, Diagnosed: January, 2016

When our son Ryker was diagnosed in January 2016, there were fewer than 100 known Syngapians in the world. SynGAP Research Fund gave our family a sense of belonging in a world of the unknown. That’s why I did not hesitate when approached to join the first round of SRF’s Board of Directors. As a volunteer, I contributed by creating blogs, participating in Sprint4Syngap, and helping with SRF Merchandise. While I am no longer on the SRF Board, I continue to support SRF by volunteering where I can, most recently by helping organize the 2023 SYNGAP1 Conference and assisting the Community Activation team with helping families connect.

SynGAP Research Fund has provided our family with a wealth of knowledge and a positive community that is supportive, caring, engaged, and available to one another. SRF has been a true blessing to our family, and we are thankful for the extended family we have gained over the years. Knowing we have others with whom we can share our rare journey, we no longer live in a lonely world. We are forever grateful to SRF.
Summer Slaght, SRF Volunteer

Summer and Danielle

8) Heather Mestemaker; Newtown, PA; Thomas, Age 11, Diagnosed: March 25, 2016

While I have been involved in the specialty and rare disease space professionally for decades, this work became personal when my son was diagnosed with SYNGAP1 in 2016. Since then, I have been active with SRF, most specifically by driving awareness and fundraising, building community in Pennsylvania, consulting with SRF leadership on organizational change, and recruiting for the SYNGAP1 Natural History Study. As an executive in the biopharmaceutical industry, I understand rare drug development and commercialization, which is a mission-critical focus for SRF on behalf of its families, and one that SRF is well suited to pursue as a skillfully run patient advocacy group (PAG).

In rare diseases, the path to therapies – and hopefully a cure – always starts with, and is enabled by, patients and their families. With SRF, our SYNGAP1 families have truly come together to “spark” change. Parents, out of necessity, may be this spark – seeking and driving toward cures – but that power must be channeled and organized to effect real change. SRF works to coalesce patients, researchers, and industry into a SYNGAP1 network to prepare for and enable therapeutic development. I know what it takes to develop such revolutionary rare disease therapies, and SRF has what it takes to make that happen and also sustain our Syngap families along the journey. 

Heather Mestemaker, SRF Volunteer + SRF State Ambassador, Pennsylvania

9) Michael Ann Price; Atlanta, GA; Wells, Age 15, Diagnosed: June, 2016

SRF is a loving and dedicated community that is composed of the most knowledgeable group of people striving to help our kids diagnosed with SYNGAP1 that I’ve encountered. I am grateful for the connections made since I decided to attend SRF’s SYNGAP1 Conference in 2022. I find the opportunity to learn about and be involved in the latest research and information around SYNGAP1 to be priceless. Because of the value I see in SRF and the friendships it affords, I have become increasingly involved with our local SRF crew. I have especially enjoyed gathering with fellow SYNGAP1 moms for lunches and to bond over shared experiences. I have also volunteered my time as a host, helping execute the Syngap Soirée Gala each year. My extended family members, who join me in having hope for my son’s future, support SRF’s mission and were some of the Syngap Soirée’s (and SRF’s as a whole) top corporate sponsors both years. 

– Michael Ann Price, SRF Volunteer + 2022 & 2023 Syngap Soiree Host Committee

10) Lauren Perry; Loveland, CO; Will, Age 14, Diagnosed: September 26, 2016

When Will was diagnosed with SYNGAP1 at age 6, it was a relief to finally have an explanation for his delays, sensory sensitivities, obsessions, and seizures. I found a small online community of parents with children like Will, and there, I met people who remain my close friends today. It was a community I needed. As I listened to Mike speak about SynGAP Research Fund and saw the organization’s early work unfold, I knew I wanted to be involved.

The first SRF webinar I attended focused on the keto diet and a friend’s experience implementing it with her son. Hearing stories specific to SYNGAP1 was so valuable. Soon thereafter, I was volunteering as a State Ambassador for Colorado. This afforded me the opportunity to speak with families from my state. I was also asked to speak with other single moms caring for children with SYNGAP1. I loved taking these calls. During the pandemic, I also joined the weekly family Zoom calls and grew even closer to the community while isolating at home.

In May of 2021, I was hired as SRF’s Operations Manager and have seen the dedication of our volunteers from behind the scenes. I am fortunate to work closely with Mike and know his intelligence, devotion, and vision drive him to constantly seek ways for SRF to help people with SYNGAP1. He maintains this focus while also serving as the primary caregiver for a Syngapian himself. SRF is an organization of people who care so much, believe in its mission, and want to help our kids. I am proud to work for SRF and to feel like I am doing something significant to help our loved ones with SYNGAP1.

Lauren Perry, SRF Operations Manager + SRF State Ambassador, Colorado

Lauren and Julie, SYNGAP1 Conference, Orlando, December 2023

11) Virginie McNamar; Indianapolis, IN; Tyler, Age 8, Diagnosed: November, 2016

My son was diagnosed seven years ago, and I have been involved with the SYNGAP1 and rare disease communities ever since. When Mike and Ashley’s son was diagnosed, they started SynGAP Research Fund with the mantra of Collaboration, Transparency, Urgency. I knew immediately that this was the organization I wanted to be involved with and that if we followed the mantra, we could completely change the dynamic of our community and the future for our kids. 

My work with SRF led to an opportunity to work in the rare disease space, which I have been doing for two years. I have learned so much about the rare realm in that time, causing me to come to appreciate even more what SRF has achieved. Believe me when I say that SRF has become an organization other rare diseases look up to, in large part because of how many families still raise their hands to volunteer to help us in our mission and how engaged and connected our community is.

Virginie McNamar, SRF Partnerships Director

12) Kathryn Helde; Seattle, WA; Joey, Age 23, Diagnosed: May, 2017

My “Why”: My goals align perfectly with the mission of SynGAP Research Fund. Both SRF and I hope to accelerate the invention of disease-modifying treatments (not just make one symptom at a time a little bit better). We want safe, effective, available options for every interested family. My education and work experience in the field of Human Genetics and Developmental Biology made it a natural fit for me to work with the SynGAP Research Fund, as it is the SYNGAP1 Patient Advocacy Organization funding the essential steps – science and clinical trial readiness – required to create disease-modifying treatments for SYNGAP1-Related Disorder. I have been volunteering with SRF for five years, and became SRF’s Chief Scientific Officer in February 2024. SRF has a dedicated team of family members who work together for a common noble and essential purpose.

My “Why Now”: My son with SYNGAP1-Related Disorder is 23 and lives outside the family home, as do my other children. Joey’s disease state is fairly stable, his days are fairly predictable, and his suffering is reasonably mitigated. Unlike in earlier chapters of parenting, I currently have the capacity to seriously apply myself to SRF’s crucial mission, knowing that I can actually get some sleep, show up to a scheduled Zoom meeting, or even leave town to learn or present on behalf of SRF. Besides the obvious urgency for treating sick kids, the journey toward inventing SYNGAP1 treatments is now at a point where specific projects that I lead will make a noticeable difference. I have put aside other business and life pursuits for the time being to take the CSO role head-on. I have never been more excited or proud of my work. It has never been so personal, not just for me, but for my Syngap family, and frankly for other rare diseases whose treatments come on our heels.

Why Not You?: SRF is the organization that allows me to use my thought processes, education, and work experience in a way that fills me with a deep sense of purpose. If you are interested in pitching in, there is a role for you. If you are a volunteer with an interest in the biology or clinical side of SRD please get in touch with me (cso@curesyngap1.org)!

Kathryn Helde, SRF Chief Scientific Officer + SRF MedSci Director

SRF at Global Genes, San Diego, 2022

13) Ashley Evans & Mike Graglia; Mill Valley, CA; Tony, Age 10, Diagnosed: February, 2018

When Tony was diagnosed, we did what many families consider. We jumped into action, both seeking existing SYNGAP1 resources and racking our brains for ways to help our son. It was a confusing and frustrating experience. We were unable to find a patient advocacy group actively pushing SYNGAP1 science forward; instead, we were told to be patient. Nobody encouraged us to assist with ongoing projects. When we asked what was happening, we were told the work was confidential. We studied other patient advocacy groups, and we came to believe that a science-focused patient group that was willing to advocate for faster therapies really could accelerate SYNGAP1 progress. We made the decision to create SynGAP Research Fund with the mantra: Collaboration. Transparency. Urgency. Disappointment in our options at the time and our need for action on the heels of a devastating diagnosis for our son led us here. We wanted to help; we needed to know what was going on; we needed progress…now. SRF was created so that every family diagnosed after us could have a post-diagnostic experience better than ours.

I have continued to work full-time, pro bono, for SRF since its inception. When our family created SRF, it was because we saw a need for a high-functioning patient advocacy group, and we wanted a better future for our son. With time, my motivation has grown. As I met more and more patients with SYNGAP1-Related Disorder, my heart expanded, and I came to care for and love them. As I connect with these families, I benefit from making many life-long friends. SRF is my community now. It gives me life and energy today, my efforts have redoubled, and I believe as SRF grows stronger and I grow older, it will help take care of all patients with SYNGAP1, including Tony, in the years to come.

I volunteer with SRF because it is the most effective way to improve my son’s future and encourage you to join us.

Mike Graglia, SRF Founder + Managing Director

14) Victoria Arteaga & Juan Gómez; Jupiter, FL; Amelia, Age 8, Diagnosed: August 28, 2018

Following Amelia’s diagnosis, it took us a year to grieve the shocking news. At the end of 2019, I was invited to join SRF’s Board of Directors, a role I gratefully accepted, and proudly served from 2020 to 2024.

In 2020, I assumed the position of Latin America Director for SRF. Through the efforts of Fondo Syngap, we have been able to provide assistance and advocacy for Spanish-speaking families in the United States and Latin America. Alongside a dedicated team of volunteers, we have implemented various initiatives such as Spanish-language blogs, webinars, the Cafe SYNGAP1 podcast, monthly family meetings, and scientific conferences. We have also devised strategies to empower Hispanic families affected by SYNGAP1 to actively engage in supporting research efforts, raising awareness, and promoting genetic testing within the region.

I am honored to stand behind SynGAP Research Fund because this incredible organization is actively working to advance treatments for our children. With over $5.75 million dedicated to Syngap research, overseen by a Scientific Advisory Board composed of SYNGAP1 experts, SRF is making strategic investments in various therapeutic approaches. It is undeniable that, without the dedication and efforts of SRF, we would not have seen the progress we have on the journey toward finding effective SYNGAP1 treatments.

Victoria Arteaga, SRF Latin America Director + SRF Diversity, Equity, and Inclusion (DEI) Board Member

Fondo Syngap at the SYNGAP1 Conference, Orlando, December 2023

15) Pavel Gerovich & Jessica Duggan; New York City, NY; Hannah, Age 6, Diagnosed: 2019

I remember well the week of our daughter’s diagnosis back in 2019. There was little credible information on the internet about SYNGAP1, so our conversations with the SRF welcome crew (Peter, Hans, Aaron, Mike, Ashley, and Virginie) were invaluable. Mike and Ashley were able to explain the science behind SYNGAP1 and answer our questions in a way that no one else at the time seemed able to do.

We’ve both since been involved in numerous initiatives to grow SRF: developing the quarterly census, partnering with global research institutions, coordinating with the SynGAP Global Network, establishing SRF UK, expanding SRF’s digital presence and accessibility, and developing standards to keep our online communities a safe space for families. Our goal was to quickly get SRF into a place where new families would find us, get up to speed on the research, and be able to find ways to contribute to our cause.

Something we’re most proud of is our work to refine SRF’s grant-making process into a multi-phase review process involving numerous advisors and input from the Scientific and Clinical Advisory Boards that culminates in a vote by SRF Board Directors. SRF is run by families, for families. They are the powerhouses behind SRF’s mission to discover treatments for our loved ones. It has been a delight and joy to volunteer with fellow SRF family members. SRF is open to volunteers from all backgrounds. There’s no barrier to volunteering any amount of time and energy for SRF. Everyone is welcome, and everyone has valuable skills and perspectives to contribute.

Jess Duggan, SRF Volunteer + SRF State Ambassador, New York
Pavel Gerovich, SRF Board of Directors

16) Jackie Kancir; Paris, TN; Jadyne, Age 20, Diagnosed: July 21, 2019

My daughter’s neuromuscular neurologist called me on a Sunday night to discuss test results from genetic testing weeks earlier. Our whole lives changed the moment our 16-year diagnostic odyssey ended. We finally had our “why” to explain the pile of co-occurring diagnoses my daughter had been collecting – SYNGAP1. Unfortunately, we were still missing the “what”. The doctor recommended I locate other parents because little was known about this newly discovered rare disease. I didn’t have to look far, because SynGAP Research Fund was impossible to miss. Through webinars, chats, and phone calls, SRF ensured I had the information needed to understand my daughter’s diagnosis. SRF has now become one of the most valuable assets in our family’s lives today.

I have been an advocate most of my life, and our diagnosis came at the height of severe, challenging behaviors. Most of the other diagnosed patients at the time were still much younger than my daughter. As parents shared about their six-year-old’s meltdown in a store or grade school IEP challenges, I felt a calling to provide a warning of what was to come. Our path had been fraught with challenges, in large part due to stigma and misunderstanding of behaviors. Being able to use those experiences to help other families have clearer paths and sharper tools made our hard times not for naught.

Thanks to the talented and dedicated fundraising of SRF families, research had begun providing concrete explanations of how our children’s brains are fundamentally different and why the behaviors are a medical symptom, not a character flaw. The research SRF has funded has not only helped expand our understanding of the “what” of SYNGAP1, but it’s led to ground-breaking innovative solutions for larger populations, like the Neurobehavioral Evaluation Tool (NET) by Dr. Thomas Frazier. Selection bias had long-plagued academic research for people who were minimally verbal and had an intellectual disability, and disability advocates across the nation had been trying to brainstorm how to reduce those disparities. Our little, yet mighty team has grown into something that will change the world, and in many ways already has.

Of the numerous organizations I have served over the years, SRF by far provides the highest effort-to-reward ratio. The community is full of hope, mind-blowing talent, and a drive for progress. I can keep my focus on advocacy because there are teams raising cash, driving science, building community, and on and on. It just keeps growing! The effortless communication and cheerleading colleagues make SRF an absolute joy to serve. This is the Super Bowl team of patient advocacy groups. I cannot overstate the diversity of expertise condensed in our rare SYNGAP1 community. I am immeasurably grateful and humbled to get to serve alongside these energized superstars who embody “Collaboration. Transparency. Urgency.” 

Jackie Kancir, SRF Patient Advocacy Director

Sprint4Syngap, Nashville, TN 2024

17) Peter & Lindsay Halliburton; Dallas, TX; Carter, Age 7, Diagnosed: July 31, 2019

Following Carter’s diagnosis in 2019, my wife and I created a Facebook fundraiser benefiting SRF, receiving considerable support from friends and family. Professionally, I’ve spent 10+ years in cybersecurity sales. Given my sales background, Mike asked me to help with fundraising efforts, and I began volunteering with SRF as the Development Director. I’ve also been on SRF’s Board of Directors since 2020. In my role, I oversee fundraising strategy and enable SYNGAP1 families to support Syngap science. When the next family that receives a SYNGAP1 diagnosis decides to take action in accelerating therapeutics for their child, joining SRF will be the obvious choice!

I’m proud to support SRF because this organization is doing real work to accelerate therapeutics for our kids. SRF has committed $5.75 million to Syngap science, guided by a world-renowned Scientific Advisory Board of SYNGAP1 researchers. We’ve made strategic investments across multiple therapeutic modalities – repurposed drugs, ASOs, and gene therapies. SRF’s creation of an ICD-10 code, publishing of a quarterly Syngap Census, investing in Ciitizen’s digital natural history study, and hosting of an annual scientific conference are all vitally important, without which SYNGAP1 would not be where it is on the path to treatments!

Peter Halliburton, SRF Development Director + SRF Board of Directors

Peter, Pavel, Brett, and Kevin, Cannonball for the Cure, 2021

18) Jess & Tom Fares; Cleveland, OH; Cole, Age 7, Diagnosed: August 29, 2019

Cole was diagnosed a few months before his third birthday. With fewer than 400 patients diagnosed worldwide, our doctors didn’t have much knowledge or information about SYNGAP1. All the Genetic Counselor could tell us was that Cole would likely have severe ID (intellectual disability) and develop seizures, so we should schedule an appointment with a neurologist immediately. This information sent us reeling. Epilepsy wasn’t something that had been on our radar with Cole’s autism diagnosis, and we weren’t prepared for such a shock, especially coupled with sparse details about what we could do to help him. It took a few months for us to come to terms with the SNYGAP1 diagnosis, a process that was aided by joining SynGAP Research Fund’s social media pages and following along with other families on the same journey. It provided us immeasurable support to see and receive advice from people at a time when we were feeling so overwhelmed and alone. 

I started getting involved with SRF in small ways – joining a weekly parents’ support Zoom meeting, helping promote social media posts, fundraising, making a movie about Cole, and sharing our ups and downs online for other parents to see. Eventually, I was invited to join SRF’s Board of Directors. I am so thankful to be able to volunteer time to help this organization thrive in its mission to advance science and help our kids. My dad, Cole’s Bapa, is retired and also volunteers for SRF, having become heavily involved in many facets, primarily in Communications, keeping everyone up-to-date through social media, the website, and the SRF newsletter.

It’s hard to believe, but our patient population has grown to over three times what it was when Cole was first diagnosed. SRF is focused on finding treatments and helping each and every one of these escalating numbers of patients, which is laudable. But just by being a place for caregivers to feel safe, seen, and understood, SRF is doing so much more. I would always want to be a part of that.

Jess Fares, SRF Board of Directors + SRF State Ambassador, Ohio

19) Ed Gabler; Cleveland, OH; Cole (Grandson), Age 7, Diagnosed: August 29, 2019

I still clearly remember the day of Cole’s diagnosis (don’t we all?), and though it took us longer than some, we eventually found and involved ourselves with SynGAP Research Fund. My volunteer journey began in 2022 when I began working on the SRF newsletter. That December, when Leadership Groups were formed, Mike suggested that I would make a good lead of Communications and Marketing. I was surprised, as I still felt like a newbie. I wasn’t even a parent! Soon, though, I realized that my status was a benefit – as a retiree and a grandfather, I had more time to devote to volunteering than most parents.

Volunteering with SRF is highly rewarding, but it’s not the tasks that excite me – the “who” is so much more important. I volunteer for SRF. The fact that our co-founders, Mike and Ashley, have spent 5+ years covering SRF overhead as the organization establishes itself, allowing donations to be directed toward research and programs to help SYNGAP1 patients, proves to me that this is the right family for us. I volunteer for the SRF community. This group is amazing! Every day, I am floored by the kindness, passion, and commitment to helping each other, especially with respect to new families. Most importantly, I volunteer for Cole. Every time I look at his sweet face, I know I can’t let up. I know this is my new purpose in life.

Thank you, Mike, Ashley, and everyone at SRF for giving me a new family and the opportunity to make a difference.

Ed Gabler, SRF Communications and Marketing Director

Pavel, Michael, Ed, and Juan in Orlando, December 2023

20) Merlina Davila; Dallas, TX; Rosanna, Age 8, Diagnosed: November, 2019

When Rosanna was diagnosed, I felt devastated and lost. I remembered hearing “SYNGAP1,” a word I had never heard. But a new life was about to begin. As a teacher, I quickly started searching for information about SYNGAP1, seeking to help my daughter despite knowing that SYNGAP1 has no cure. I also contacted Victoria Arteaga (SRF’s Latin America Director), who invited me to join her as a volunteer for this amazing organization – SynGAP Research Fund.

I decided to get involved with SYNGAP1 and SRF primarily by raising awareness within my community. I hope to positively impact Spanish-speaking families in the U.S. and Latin America by connecting, providing assistance to, and sharing information with them. I have also had the opportunity to bond with families enduring a similar SYNGAP1 experience to mine in our monthly family meetings, as well as by hosting the Cafe SYNGAP1 Podcast en Espanol. My connection with families living with SYNGAP1 is invaluable. I am proud to support Latin American families and to also actively participate in important surveys and research on behalf of SRF.

Teaching children with disabilities affords me the unique position to spread awareness in schools where nobody talks about rare diseases such as SYNGAP1. In the future, I hope to lobby for communication and education around rare diseases because it is important to teach people how a rare disease such as SYNGAP1 affects people’s lives and how everyone can help someone with SYNGAP1 or any other disability.

I am proud to support SRF as a volunteer and believe in the dedicated efforts of this organization whose volunteers work tirelessly to find a cure for SYNGAP1. Thanks to SRF, I have a big family.

Merlina Davila, SRF Volunteer

21) Minnie Zhou; Chicago, IL; Hayden, Age 6, Diagnosed: 2019

I received my daughter’s diagnosis in 2019 when she was 19 months old. I took her to a neurology appointment and during that first appointment, her neurologist told us that a lot of researchers are working on SYNGAP1 and interested in ASOs to increase the SynGAP protein levels in the brain. I was intrigued and hopeful. I observed later that the reason for such research was an organization called SynGAP Research Fund. I connected with Mike and Ashley because I was inspired by what they were doing to help accelerate SYNGAP1 research in order that our children see effective treatments in their lifetimes.

Upon attending volunteer meetings, I discovered why SRF is a thriving organization. SRF approaches treatment and research in a very organized and systematic manner. Volunteers contribute their individual talents and knowledge to help with science, policy, advocacy, technology, media, fundraising, community outreach…the list goes on. Leadership of this organization is extremely effective, and volunteers are motivated and united. My job as a volunteer was to interview scientists and write up blog posts a few years ago. As my daughter became older and required more attention, I transitioned to being the liaison between SRF and the SYNGAP1 community in China and work to share with our Chinese counterparts the news on SYNGAP1 science. I see a lot of love and hope in our Syngap community. SRF is the driving force.

– Minnie Zhou, SRF Volunteer

Peter, Brett, and Kevin, Cannonball for the Cure, 2021

22) Roy & Heather Morris; BC, Canada; James, Age 8, Diagnosed: December, 2019

For a parent, it is the worst to see your child suffer. Since James was six months old, we began to see big differences. He was unable to complete tasks other younger children had long since mastered. Then came seizures and a whole host of symptoms that would devastate his world. We didn’t even know if James would survive into adulthood. Finally, after years of testing and multiple hospital stays, just before Christmas and his 4th birthday, we got our answer – SYNGAP1-Related Disorder. SYNGAP1 was a very rare genetic change in James’ DNA unknown even to the gene specialists at the Children’s Hospital.

It took a while to absorb this diagnosis – a permanent illness afflicting our child that no one is even researching. I’d say it can take years for some to grasp, and that’s if you ever fully take it in. It doesn’t stop there; the impact of this diagnosis is family-wide. SYNGAP1 not only affects us, his parents, but it also directly affects his siblings – all the sleepless nights and months spent in hospitals have taken a toll. Some family members have distanced themselves from us. For us, retreating inward made us feel safe. And then, while navigating this new normal for our family, came COVID.

Through the darkness of diagnosis and COVID, our light at the end of the tunnel has been finding SynGAP Research Fund. SRF helped us see a future with hope. Our lives are incredibly chaotic, but now we have advice, friendship, and understanding – all provided through weekly video calls and new connections. We share information and drug recommendations and appreciate having Ciitizen, a central database for medical records. On the horizon are better treatments and, someday, a cure.

On day one of our diagnosis, the genetic specialist said, “You will be writing the book for others to follow.” Well, SynGAP Research Fund not only wrote the book; it made the video, got the funding, found the people, made the trials happen, and developed a plan for finding treatments and a cure.

I volunteer as much time as I can to SRF and plan to give more. I am extremely grateful for the efforts of all its volunteers. Together, SRF is making a difference for all the diseased children, all their siblings, all the extended families, and all those yet to be born with SYNGAP1. I am so proud to be a small part of the SRF family. SRF is our beacon of hope and is knocking it out of the park.

Roy Morris, SRF Volunteer

23) Kali Worth; Wilmington, NC; Kailyn, 9, Diagnosed: December, 2019

Once Kai received her SYNGAP1 diagnosis, I joined all related groups on social media. Within a few days, I was able to connect through one of these groups with fellow parents Virginie McNamar and Peter Halliburton. It was their kind words and willingness to share and connect that was my soft place to land during a time that was grief-stricken for our family. Beyond being a source of genuine fellowship, SynGAP Research Fund (SRF) and its team have provided a real sense of empowerment. The energy and tenacity behind the scenes is what struck me and ignited my interest in collaborating with SRF.

I served on SRF’s Board of Directors in 2020 and have continued to support SRF through varying volunteer roles. I continue to assist with the ongoing ORCA study being conducted by Duke University in conjunction with COMBINEDBrain; I had the privilege to volunteer at the two most recent SRF SYNGAP1 Conferences in Nashville and Orlando; and a highlight of this year is joining the SRF team for Million Dollar Bike Ride (MDBR) in Philadelphia this June to raise funds for SYNGAP1 research. In the future, I will continue to support SRF through time and fundraising because I believe in the people who work tirelessly, supporting the mission of SRF to improve the quality of life of SYNGAP1 patients, including our Kailyn. In the rare disease space, community is vital, and we are so grateful for the community that SRF has given to our family. 

Kali Worth, SRF Volunteer

The SRF MDBR crew, 2022

24) Lindsay Wieczorek & Andrew Rosa Borges; Minneapolis, MN; Adeline, Age 9, Diagnosed: December 15, 2019

Adeline was diagnosed with SYNGAP1-Related Disorder just as COVID-19 was beginning to sweep across the U.S. For us, both the diagnosis and the pandemic lockdowns were a relief. We had struggled with Adeline’s developmental delays, seizures, and severe behaviors for many years. We had stacked hours of school, therapy, and doctor’s appointments each week, trying to improve life for Adeline while exhausting everyone in our family. The diagnosis finally gave us an answer to our problems. The pandemic gave us an acceptable retreat from a society in which we no longer seemed to fit.

After our diagnosis, we held on to hope that things would improve with time and that Adeline could still ‘grow out of it’. With time and some grieving, it became apparent that SYNGAP1-Related Disorder was a lifelong journey, and we needed to make the best of it. I attended SRF’s SYNGAP1 Conference to meet similarly affected families and learn. At that meeting, I found a level of compassion and support never before experienced. I was surrounded by cutting-edge science that I was excited to get behind. I was ready to take action, and joining SRF was the best way that I could make a significant impact in the lives of our children.

I currently serve on the SRF Board of Directors, helping to make decisions about the direction and focus of the organization. I also serve as a Scientist and Science Lead within SRF, where I leverage my 20 years of experience in the field of infectious disease research and clinical development to support drug repurposing efforts and upcoming clinical trials. Lastly, I function as a State Ambassador (MN) for SRF to ensure local families have the support and resources they need to thrive. Andrew also provides logistical and scientific support when he’s able.

When we tried to go through this Syngap life alone, we felt isolated, helpless, and hopeless. Joining SRF opened our world to a community that cares, supports us, and has enabled us to make an impact. We are forever grateful for the passionate people in the SRF community who make all of this possible.

Lindsay Wieczorek, SRF Board of Directors + SRF State Ambassador, Minnesota
Andrew Rosa Borges, SRF Volunteer

25) Christi & Dontae Burns; Grovetown, GA; Christian, Age 6, Diagnosed: December 31, 2019

Christian was diagnosed with SYNGAP1 on December 31, 2019. What a way to bring in the new year! Discovering SRF made us hopeful that we didn’t have to be afflicted with this rare disease alone. We connected with a supportive community jointly striving to improve the lives of our loved ones. Since Christian’s diagnosis, I have volunteered for SRF in any way I can. In 2021, I was one of the original members of SRF’s Diversity and Inclusion team alongside Alexis Edouard. In 2022, I was involved in the RARE Compassion Program. Also that year, I partnered with the Rare Disease Diversity Coalition (RDDC) on behalf of SRF. In 2023, our family took part in the CHOP ENDD natural history study. At this time, I am proud to have recently joined the newly formed SRF Diversity, Equity, and Inclusion (DEI) Board. 

SRF is one of the hardest working organizations I’ve ever been a part of. It really feels like everyone is part of a family working together. I am so excited to see what the future holds.

Christi Burns, SRF Diversity, Equity, and Inclusion (DEI) Board Member

Team Kai Sprint4Syngap 2023

26) Alexis & James Edouard; Orlando, FL; Naya, Age 7, Diagnosed: February 5, 2020

Our support for the SynGAP Research Fund (SRF) is deeply rooted in our belief in diversity, equity, and inclusion. We have actively engaged in SRF’s Diversity, Equity, and Inclusion efforts (which has now evolved to become a DEI Board), ensuring that every voice within the community is heard and valued.

Our commitment extends beyond advocacy to fundraising efforts, which provide crucial resources for research and support programs. Additionally, we contribute hands-on by volunteering at conferences and hosting meetups in Central Florida, all of which fosters connections and solidarity within the SYNGAP1 community.

One of our most personally impactful contributions to SRF and its community is Naya’s Syngap Story Video, where we share our personal journey with SYNGAP1, aiming to inspire hope and raise awareness for the cause. Our dedication exemplifies the transformative power of empathy and advocacy in driving positive change for individuals and families affected by rare genetic disorders.

– Alexis Edouard, SRF Volunteer

Edouard Family at the SYNGAP1 Conference, Orlando, December 2023

27) Kathy & Mike Langen; Dover, MA; Charlie, Age 23, Diagnosed: March 13, 2020

The first 19 years of Charlie’s life were literally like walking in the dark without a flashlight.  Nothing about his symptoms made sense to any medical professional, and I was consistently told, “I have never seen a child with this presentation.” After an inconclusive round of DNA sequencing in 2011, we repeated the genetic testing in 2019 at the urging of our son’s geneticist. Given Charlie’s age, and the need to focus on other aspects of his adult life, I gave very little thought to that second round of testing – until the call. We received his diagnosis of SYNGAP1 on the day the U.S. was shutting down for COVID.

It took me a few months to process what the SYNGAP1 diagnosis meant at Charlie’s stage of life. After much research, I sent an email to Mike Graglia at SynGAP Research Fund. He responded immediately, and within days, we had an hour-long conversation that changed my life. Mike connected me with another mom of an adult with SYNGAP1, and I could barely contain my emotions as her story and mine were so similar. It was the first time in 20 years I did not feel alone raising Charlie. That feeling only intensified as I started volunteering with SRF and made new friends. I have been able to utilize my background in marketing to assist at our SYNGAP1 Conferences, while Charlie’s dad is utilizing his background in finance when volunteering on the SRF Board of Directors as its Treasurer.

Kathy Langen, SRF Volunteer
Mike Langen, SRF Board of Directors

28) Nancy Leib Kessler; New Jersey; Caren Leib (Sister), Age 68, Diagnosed: June 17, 2020

After a lifelong quest, my sister Caren was diagnosed with SYNGAP1 at the age of 64, a discovery that arrived too late for our parents. Their search for answers concluded without closure. Caren’s diagnosis led me to the wonderful and supportive community of the SynGAP Research Fund (SRF), a group of highly driven, educated, and ethical individuals committed to advancing SYNGAP1 research and providing family support. For me, becoming an SRF Board Director signified the end of isolation and the start of a collaborative effort to effect change. I also found purpose in sharing my sister’s story in the short film “Celebrating Caren,” produced by illumina and the SynGAP Research Fund.

Having retired from a 35-year career in education and case management for special needs children, I was familiar with the challenges faced by individuals like Caren. My role with SRF has been a transformative experience, enabling me to witness and contribute to the organization’s growth, inspired by the incredible vision of founders Mike Graglia and Ashley Evans. Hosting the annual SynGAP Research Fund Gala – for Caren and all those diagnosed – has been an honor. In doing so, we’re bringing our community together in the quest for research and a cure, and also working to ensure that no family managing SYNGAP1 ever feels alone.

Nancy Kessler, SRF Volunteer

Nicole and Nancy

29) Jen & Dan Robert; Greenville, SC; Elsie, Age 6, Diagnosed: July 13, 2020

For the first six months after Elsie’s diagnosis in 2020, we joined any and every SYNGAP1 group available. We observed from afar, taking in as much information as we could. After noticing the strong community within SynGAP Research Fund, I reached out to Mike to let him know I could help with graphic design. We hit the ground running immediately. Since then, Dan and I have been involved at SRF in many capacities: graphic design, fundraising, website design/development/management, as well as serving on the Board of Directors.

SRF is our hope for a treatment for our daughter. The continued efforts by SRF to push science forward in the world of SYNGAP1 are unmatched. Being part of a supportive community of families who know exactly what we are going through has had a significant positive impact on our lives. We know we aren’t alone on this journey. To say we are grateful to be a part of this community would be an understatement. 

There is power in numbers, and as SRF continues to grow with more diagnosed families, we will continue to see considerable progress towards the goal of finding a treatment for our kids.

Jen Robert, SRF Volunteer
Dan Robert, SRF Volunteer

30) Michael & Julie Miles; South Carolina; Miller, Age 8, Diagnosed: July 28, 2020

After years of searching for answers regarding our son’s global developmental delays, we took several months to process and grieve the diagnosis of SYNGAP1. Once we felt ready, we connected with the SynGAP Research Fund and immediately knew that we had finally found our community. We hosted a few Facebook fundraisers and ultimately decided that we wanted to do more to raise both funds and awareness within our community. Together, with another local Syngap family, we hosted the 1st Annual Scramble for Syngap in October of 2022. We will be hosting our 3rd annual event this fall. In addition to fundraising, I have been on SRF’s Board of Directors since 2023 and serve as the Board liaison for the annual SRF Conference

SRF is leading the way in providing our loved ones with real hope for a better future! SRF has pushed forward at an incredible speed to help find answers and better treatments for patients with SYNGAP1. The Managing Director and Board of Directors are laser-focused on our mission of collaboration, transparency, and urgency. Having funded over $5.75 million in research, the numbers truly speak for themselves. This community is a force that has given us hope and invaluable resources that no other organization has been able to provide. Our family will be forever thankful for SRF and all that it has given us!

Julie Miles, SRF Board of Directors + SRF State Ambassador, South Carolina
– Michael Miles, SRF Volunteer

Scramble for Syngap 2022

31) Kelli McIntosh; Monroe, OH; Kyle, Age 18, Diagnosed: July, 2020

When Kyle was diagnosed with SYNGAP1, I finally felt a sense of relief. I think every parent experiences a different emotional reaction based upon the age of their child. For us, we had lived 14 years with multiple symptoms, multiple genetic tests, and no answer. Finally, we had an underlying explanation for everything. At the time of Kyle’s diagnosis, I had developed a website and blog to share our journey. After learning Kyle had SYNGAP1, we started a YouTube channel to spread awareness. Mike Graglia found us online and reached out. I remember my phone call with him – I was ecstatic to be talking to my very first parent of a Syngapian! He told me about the SynGAP Research Fund, and I was introduced to a world where other parents had children just like Kyle. Another sense of relief! I discovered that these parents were working hard to spread awareness, find a cure, and connect families.

I wanted to support and volunteer with SRF in some capacity. So for Kyle’s 16th and 17th birthdays, we ran a “Birthday Fundraiser” on our YouTube channel to raise funds. I also had the opportunity to represent SRF at the COMBINEDBrain Meeting in Cincinnati, close to where we live. There, I shared my story of Kyle and how the SynGAP Research Fund supports families. It was my first in-person event and the first time I met other parents of children with SYNGAP1. I have also assisted SRF’s Communications & Marketing Director in editing blogs for SRF’s website. This last year of Kyle transitioning to adulthood has been difficult for our family, but I hope, after things settle, that I can volunteer again in some capacity. SRF is changing the lives of families like mine, and I am so thankful to be a part of such a supportive community.

– Kelli McIntosh, SRF Volunteer

32) Paulina Polanco; Manteca, CA; Libertad and Esperanza (sister), Age 20, Diagnosed: August 19, 2020

I started volunteering for SynGAP Research Fund after the 2022 conference in Nashville. I attended the conference with two of my four sisters as representatives for our family. SRF was relatively new to us at the time because we had only become involved some months prior after one of my Syngapian sisters, Esperanza, had her first grand mal seizure at 18 years old. Her seizure completely flipped our world upside down. Esperanza and her twin Libertad were both diagnosed with SYNGAP1 in 2020, but we didn’t join SRF until after the seizure. Before the seizure, we didn’t feel like we really had a sense of community anywhere. The twins’ symptoms didn’t seem to fit in the puzzle of autism as well as other kids’ did. Their diagnosis always felt somewhat inconclusive. When Esperanza had her seizure, we finally put two and two together, realizing that the SYNGAP1 diagnosis was a lot more meaningful than we had originally thought in 2020. The twins’ symptoms were spot on, and the stories we would read of other families’ experiences felt as if we were reading our own. Naturally, we felt like we finally found our place.

At the SYNGAP1 Conference, my sisters and I were all a bit nervous being in a state we had never visited before and with so many people we had never met before. Immediately upon our arrival, we were greeted with a warm welcome. It felt like we had met long lost family members! Since then, I had a strong urge to become involved with the team – their drive, passion, message, and dedication to improve the lives of Syngapians was, and still is, so beautiful to me that I needed to be a part of it. I wanted to join the family and strive to help SRF make advancements in the therapy/medical world and find more families like mine to help. I wanted to help families feel seen, heard, and understood like SRF helped my family. Above all, I wanted to dive in for my Syngapian sisters.

Since the 2022 conference, I have become a volunteer for SRF and Fondo Syngap in Latin America. I have been able to travel to several events to represent SRF and meet many researchers, doctors, and scientists. Through volunteering, I’ve learned so much about SYNGAP1 and the strides being made toward improving the lives of our Syngapians. At the 2023 SYNGAP1 Conference in Orlando, I was given the opportunity to share my story and felt very, very supported by the entire team and community. Although I was extremely nervous to go on stage and be vulnerable in front of a large crowd, my fellow volunteers encouraged and supported me. Another fellow volunteer Kathryn (a Syngap mom, geneticist, and author) so graciously shared the stage with me to help ease my nerves and guide me into my speech.

I have met so many Syngap families and Syngapians since I began volunteering and have been able to make the sweetest connections with them based on common ground. It’s a wonderful feeling knowing that the work SRF has done, and the work to which I’ve had the privilege to contribute, has touched the lives of other people.

Paulina Polanco, SRF Volunteer + Fondo Syngap Volunteer

Families at the SYNGAP1 Conference, Orlando, December 2023

33) Beata Tarasiuk & Robert Klein; Tucson, AZ; Kasia, Age 7, Diagnosed: October, 2020  

Our daughter was three when we received the life-changing diagnosis of SYNGAP1-Related Disorder. The diagnosis day brought us profound pain followed by grief. I will never forget my husband’s words asking, “How?” We were tested for most diseases – Kasia has been tested –  how is this possible? At the time, there were about 600 known patients worldwide with SYNGAP1. I received a Facebook message from Jess from SRF within an hour of diagnosis. Mike followed, then Monica, Aaron… so many others. Not knowing anything about disability or genetic diseases, I asked a million questions, cried a lot, and leaned on the SRF community for support.

I knew right away that this organization, these people, are special. They are selfless, kind, and smart. It did take me a while to wrap my brain around the possibility that we can influence science and that there is hope for our daughter to have a better life. Grief is sneaky, but I found that it can be battled with action. It helps to belong to a community of people who work on the same goal and who want the same for their children as I want for mine.

I believe each person has a unique set of skills and can provide a unique contribution to any organization or cause. I found that mine was to find more Syngapians, especially in my home country of Poland. On behalf of SRF, I started finding patients in Poland and built a local organization. Today we have 35 patients and counting, a strong patient advocacy organization, and are preparing for clinical trials. Now it’s time for me to assume a supporting role in Poland and take care of our families in my home state of Arizona. Every day I am grateful to SRF for letting me do what I want and can to help the community and my family. This life is not easy, but now I walk through it with friends, with hope, and with gratitude because I am part of SynGAP Research Fund.  

Beata Tarasiuk, SRF Volunteer + SRF State Ambassador, Arizona

Beata & Kathryn at the SYNGAP1 Conference, Orlando, December 2023

34) Jessica Johnson; Maryland; Kai, Age 5, Diagnosed: October, 2020

The day I was lucky enough to find the SRF community was the same day we received my son’s diagnosis. I am so thankful that my frantic Google search, only hours after hearing Kai’s diagnosis, led me to the Facebook page for a non-profit called SynGAP Research Fund. This amazing community of dedicated and passionate individuals has been a lifeline for my family. Immediately, I knew I had found my people!

Our family has enjoyed fundraising for SRF over the last three years through Sprint4Syngap. In 2022, I attended my first SYNGAP1 Conference in Nashville. It was exhilarating finally meeting in person the SRF families with whom I had been communicating online for two years. The feeling of community, acceptance, and understanding was instant. Very quickly, I realized these relationships would be lifelong. The first day of the conference’s Science Day, I was blown away by, and in awe of, all the research SRF was funding. Upon leaving that conference, I knew I wanted to get more involved as a volunteer with SRF. 

Since then, I have been fortunate to attend Rare Disease Week in Washington, DC on Capitol Hill and at the NIH. I’ve also volunteered SRF in the merchandising and community outreach realms. Going forward, I plan to take on a greater role in the area of advocacy, focusing on policy and education. I will build on my experience gained this year from participating in a program through the ARC of Maryland called Partners in Policymaking, which provides training for those representing individuals with intellectual and developmental disabilities to be effective advocates at the local, state, and federal levels. 

I don’t want to think about where we would be today without the support of this community. SRF is truly a beacon of hope!

– Jess Johnson, SRF Volunteer + SRF State Advocacy Lead, Maryland

Jess, Kai, and Marques Johnson

35) Stefanie Decker; Prairie du Sac, WI; Saydee, Age 6, Diagnosed: November, 2020

I knew very early on that something wasn’t quite right with Saydee’s development, and we were immediately introduced to early intervention and therapies. For three years, we did nothing but run from appointment to appointment trying to help her developmental progress. Finally, after genetic testing, we received a SYNGAP1 diagnosis. I had no idea what it would mean at the time, but what I did know was that I was already so alone in my world trying to just make it through the day. I went on Facebook in search of anything SYNGAP1-related and found Peter. He immediately started a conversation with me and made me feel heard. I slowly started hearing from other families who understood everything I was going through. I know the best way to help our kids is to donate money for research, and I knew that wasn’t something I could do. What I could do was use my unique set of skills as a CPA to volunteer and relieve another parent who needed to take a step back as the CFO.

In one of my first conversations with Mike, he made it very clear that there are no secrets at SRF. I could have access to the books and see exactly where the money came from and where it was paid. I can say with 100% certainty that Mike and Ashley pay all overhead costs at SRF. Every penny brought in does go directly to research and programs to help our children and families. I truly believe that Mike’s goal is to find a treatment for all of our kids as quickly as possible, and his drive and accountability are what draw all of us parents, grandparents, aunts and uncles, and other loved ones to step up and volunteer because none of us can do all of it, but each of us can do some of it.

Stefanie Decker, SRF Critical Operations Co-DIrector + Chief Financial Officer

Gustavo, Merlina, and Victoria

36) Melissa Foster; Mission Hills, KS; Hattie, Age 7, Diagnosed: May, 2021 

The day we received our four-year-old daughter Hattie’s SYNGAP1 diagnosis in 2021, we were relieved to have this knowledge, but also lost and devastated. After scouring the internet for info about SYNGAP1, we came across SynGAP Research Fund. We saw that there were other organizations, but this one in particular looked to be the most cohesive, supportive, and legitimate. We reached out and were put in touch with SRF’s founder, Mike Graglia. Since that life-saving conversation, we have become a part of the SRF community. Within months of Hattie’s diagnosis, we met Mike and numerous other families struggling with this terrible disease, giving us so much hope and support. This diagnosis is all about connection.

Since our initial interaction with SRF, we created a family video to help educate our community and we raised funds to help advance science and support SRF’s growth. Our extended family made a significant contribution to Texas Children’s Hospital in Fort Worth, Texas to facilitate the establishment of a SYNGAP1 clinic and also supported a significant SYNGAP1 research project. I have also spent time serving on the SRF Board of Directors, helping with critical decision-making on funding grants to scientists to advance our knowledge of and search for treatments for this disease.

SRF is family. There is no other organization we would invest our time, money, and energy into. We have all the hope in the world that with the teamwork and support of SRF, we will find treatments, and hopefully a cure, someday.

Melissa Foster, SRF Volunteer

37) Corey Baysden; Newport, NC; Saylor, Age 6, Diagnosed: July, 2021

In July 2021, our lives changed when our daughter, Saylor, was diagnosed with the SYNGAP1 genetic disorder. Learning the name of her condition was difficult to accept, yet it provided clarity and a direction for our family’s journey. I dove headfirst into researching SYNGAP1 and connected with others who shared similar experiences. Within moments of joining the SynGAP Research Fund’s Facebook group, I was greeted warmly by Mike Graglia, who swiftly provided resources, family videos, and introductions to families navigating the same path. The outpouring of support felt like we’d finally found a community where we belonged.

Soon after joining SRF’s Facebook group, I found myself on a call with Mike and several other families and decided to volunteer with SRF. This choice has been transformative. Volunteering has given me purpose and control in a situation that often feels overwhelming. Rather than passively waiting for progress, I’m actively contributing to driving research and advocacy efforts for our children.

My role as Community Activation Director allows me to onboard new families, connect them with vital resources, and engage them in our research initiatives. The dedication and talent of our family volunteers make our organization a well-oiled machine. It’s truly incredible to witness the collective effort and commitment to a common goal. Volunteering with SRF has not only been a lifeline for my family, but also a pathway to impact the lives of countless others affected by rare diseases. 

At SynGAP Research Fund, we pride ourselves on transparency and open communication. We encourage questions, feedback, and participation from everyone. It’s this collaborative spirit that fuels our progress. It’s a reminder that we are stronger together and that every action, no matter how small, contributes to a brighter future for our children.

Corey Baysden, SRF Community Activation Director + SRF State Ambassador, North Carolina

Mike and Corey

38) Suzanne & Brent Jones; Atlanta, GA; Jansen, Age 13, Diagnosed: September 13, 2021

Within days of our daughter being diagnosed with SYNGAP1, we were on a Zoom call with Mike Graglia, SRF Co-Founder and Managing Director. Shortly thereafter, I was inundating Aaron Harding with genetic questions, reaching out to Peter Halliburton to understand initiating a fundraiser, and messaging with so many other SRF volunteers (especially Jess Duggan). Thank goodness for the reach of Facebook SYNGAP1 groups! Brent, meanwhile, latched onto Mike’s SYNGAP10 podcasts and urged me to listen to my first-ever podcast. I acquiesced and listened to the 20 or so episodes I’d already missed. I haven’t missed an episode since…141 and counting as of May 2024!

We chose to align with SRF because we instantly realized it was a community of loving, driven, and like-minded families affected by SYNGAP1, working in tandem with the singular hope of improving their children’s futures. My involvement with SRF evolved from launching an initial online fundraiser, volunteering with the Development team, and being voted onto the Board of Directors, to chairing two 300+ person galas in Atlanta and becoming the Board of Directors Chairwoman. Through our efforts, Brent and I raised $1M (less event expenses) for SRF in our first two years of engagement. Although stepping back from hosting a large-scale event this year, we continue to support SRF philanthropically, and I remain committed to SRF’s critical fundraising and strategic initiatives.

Being welcomed and enveloped by the SRF community after years of isolating anxiety and fearful uncertainty was monumental for our family. Finally, after more than 10 years of inconclusive genetic tests, we could transition from blindly seeking answers to proactively searching for a cure. With SRF, no matter what the future holds for our daughter, and even if a cure remains elusive, we have found hope and an extended family. For this, we are eternally thankful.

Suzanne Jones, SRF Board Chair + SRF State Ambassador, Georgia

SRF Advocating for SYNGAP1 on Capitol Hill, Rare Disease Week 2024
Jess, Suzanne, Nancy, John, Marta, Kathryn, and Vicky

39) Teresa and Ryan Diercks; Pensacola, FL; Thatcher, Age 7, Diagnosed: September 29, 2021

I can recall our son’s diagnosis day as if it was yesterday. It was a gut punch, but at the same time, comforting to know that we finally had a diagnosis. We had so many questions, but very few answers from our doctors. A year later, we attended the SRF SYNGAP1 Conference in 2022 in Nashville, and I was left in awe. I had just met so many remarkable families, all dealing with Syngap and the challenges it brings. I was inspired, but confused about what to do next. I joined the family meetings, listened to the podcasts, and watched the webinars. I then reached out to Mike in 2023 to start volunteering for SRF. I was quickly connected to the conference volunteer committee.

I found so many selfless individuals volunteering for the greater good. SRF, and the entire Board, work tirelessly every single day to make certain that our children and loved ones are not forgotten; to ensure that scientists and researchers not only know what SYNGAP1 is, but that they’re actually working on scientific advancements and possible treatments; to establish a strong presence in communities, both online and in-person, to spread awareness about SYNGAP1.

We don’t volunteer with SRF for a paycheck or recognition. We don’t do it for self-promotion or egos. We do it despite our limited time, energy, and resources. If we only have a couple of hours to give or fifty dollars to donate, we do our part. When enough people do their part, it creates a catalyst for change. At the end of the day, SRF’s families know that the only thing that matters is finding treatments, creating a cure, and never giving up the hope that it will come true.

I thank God every day that Mike and Ashley had the foresight to create SRF and that I now get to join its countless other volunteers, and to not only have hope, but to be able to take actionable steps so that my child can have a better future.

Teresa Diercks, SRF Volunteer

SRF at AES 2022

40) John Hill; Hazlet, NJ; Kiera (Grandniece), Age 4, Diagnosed: November 19, 2021

Being blessed with two healthy children and three grandchildren has always made me look to support those less fortunate, especially children. Six years ago, the company that I was leading chose Alex’s Lemonade as our corporate charity. Alex’s raises funds to support childhood cancer research. Recently, I decided to (somewhat) retire, and I wanted to direct my philanthropic efforts closer to home. My grandniece Kiera was diagnosed with SYNGAP1 almost three years ago. My grandkids spend a lot of time with Kiera, and my family wants to support her and the SynGAP community to do our part to help those diagnosed have an improved way of life. 

Two years ago, we attended our first SRF Gala in New Jersey, a SYNGAP1 event run by Nancy Kessler, and met a lot of special people who advocate for this cause. From there, I wanted to become more involved with the SynGap Research Fund, and the SRF family welcomed me with open arms. Nancy invited me to help host the 2023 SRF Gala, which was a pleasure. She and I are expecting an even greater turnout at the Fourth Annual SRF Gala on October 18, 2024. We worked with Kiera’s mom, Megan, to raise funds during Sprint4Syngap on April 27th and are broadening our reach to generate increasing levels of support.

Kiera is a sweet four-year-old, and we have seen progress in the past couple years as she is now walking with the help of braces. This allows her to be a bit more engaged with her cousins when they are together. Each milestone warms my heart and provides hope that her parents and relatives will continue to see progress, thanks in no small part to the efforts of SRF.

John Hill, SRF Board of Directors

41) Nicole Ciccone Getbehead; Canton, GA; Jackson, Age 8, Diagnosed: December 2021

I support SynGAP Research Fund (SRF) because it has become painstakingly clear to our family that no one else is going to undertake the initiative of helping our son and others afflicted with SYNGAP1. With thousands of rare diseases fighting for global press, the reality is that to date, the number of people diagnosed with SYNGAP1 is too small to make major headlines in the biomedical and pharmaceutical world. For this reason, research funds dedicated to SYNGAP1 simply won’t come soon enough without activism.

The families who make up SRF are motivated to be the force to push for fast-tracking this research. SRF, in addition to propping up critical research, also provides our community with invaluable resources in the form of an annual conference, MIke’s weekly podcasts, and periodic science webinars. Lastly, SRF has created a supportive community that is welcoming to all families and fosters long-lasting friendships. 

Nicole Ciccone Getbehead, SRF Volunteer

Syngap Soirée 2023
Nicole, Michael Ann, Suzanne, Natalie, and Ashley

42) Emily & Gordon Barnes; Danvers, MA; Hadley, Age 6, Diagnosed: January 12, 2022

After knowing something was different about Hadley very early on and having continued concerns, we finally got the answer that Hadley has a genetic disorder. She was four years old at the time of her SYNGAP1 diagnosis. “What is SYNGAP1?”, we thought. We were immediately immersed in learning everything we could about SYNGAP1 and how we could help Hadley.

We were embraced and supported beyond measure by the SynGAP Research Fund from the get-go. Since then, we have made incredible connections and felt massive hope for the future of Hadley and all Syngapians. SRF has proven to be at the forefront of science, intelligence, and community. I joined SRF’s Board of Directors in 2023, and it has been an absolute pleasure and privilege to work with the talented team. We have dedicated ourselves to fundraising and advocacy and will continue to work eagerly to support SRF.

Emily Barnes, SRF Board of Directors

SYNGAP1 Conference, Orlando, December 2023

43) Heather Bensch; Ripley, TN; McKaela, Age 22, Diagnosed: January 28, 2022

I spent 20 years looking for the reason why our daughter has severe autism and other diagnoses, as well as why nothing I did seemed to help her. Those years had me believing that I was at fault, alone, and not doing enough for her. But then our daughter was finally diagnosed with SYNGAP1. I learned it was a de novo mutation (not inherited from her dad or me) and that there were almost 1,000 others worldwide with the same diagnosis.

I embraced the opportunity to volunteer with SynGAP Research Fund in its efforts to raise awareness and fund the research for treatment and a cure! Since then, being a part of this community has changed everything for our family. Importantly, I now help connect other families with SRF, which gives all of our families hope for a better tomorrow!

Heather Bensch, SRF Community Activation Assistant Director

SYNGAP1 Conference, Orlando, December 2023

44) Emily Brimsek & Eric Moulton; Washington, DC; Phoebe, Age 3, Diagnosed: February 13, 2023

Our life changed permanently when we received Phoebe’s SYNGAP1 diagnosis. Immediately, we went online to search for any available information, since our neurologist had never heard of the disease. We sought connection with anyone – any organization – who could tell us more about what to expect. Thankfully, SynGAP Research Fund answered the call. Within weeks of Phoebe’s diagnosis, we were able to have phone conversations and in-person discussions with other parents facing this challenge, and realized we had found a community. In the words of one parent, we “won the ‘lottery’” with this horrible and extremely rare diagnosis, but we also truly “won the lottery” by finding such a dedicated group of parents committed to raising money and funding research to find effective treatments. 

Since February 2023, we have raised more than $59,000 for SRF through two “Phoebe’s Fight” Sprint4Syngap campaigns, Eric has joined the SRF Board, Emily’s parents have taken on the role of donor appreciation, and Emily will be working with the SRF Advocacy Group on a federal advocacy policy. We are proud to support SRF because they supported us immediately in some of our darkest hours. SRF has given us a path forward (fundraising, but also participation in important studies like ENDD at Children’s Hospital of Philadelphia), and has provided parents with a true community of others who understand our unique challenges. We are all working together toward the same goal for all of our beloved kids.

Emily Brimsek, SRF Volunteer
Eric Moulton, SRF Board of Directors

SYNGAP1 Conference, Orlando, December 2023

45) Zoe & Earl Bailey; Fairfield, CA; Kaia, Age 3, Diagnosed: February 24, 2023

The moment we received the email that Kaia was diagnosed with SYNGAP1, our entire world changed. That moment is vividly etched in our memory banks; clearer than almost any other in our lives. It took more than a year to catch our breath and find our footing. However, the second we accepted our new reality, SynGAP Research Fund (SRF) was there to embrace us, instill hope, and stand by our sides. SRF has been an unmatched support system with an incredible team working on treatments and therapeutics for our sweet baby. With over $5.75 million already spent on funding science, the future for everyone diagnosed with this horrible condition is brighter because of SRF.

We just finished our first Sprint4Syngap fundraiser and raised not only a little over $6k, but we also raised awareness and garnered support from those near and dear to us. Zoe is just beginning to join the Advocacy and State Ambassador volunteer groups. She hopes to support newly diagnosed families and connect them to resources needed to navigate the challenging path of being a special needs parent.

As a Licensed Clinical Social worker by trade, Zoe is well-versed in advocacy, case management, navigating systems, and providing social/emotional support – all of which will be utilized in her new volunteer roles. Earl’s sales and customer satisfaction skills will be assets with his upcoming volunteer roles.

We are ever so grateful and honored that we get to be a part of this family-led group of MIGHTY folks dedicated to creating community and finding a cure for SYNGAP1! 

Zoe Bailey, SRF Volunteer Coordinator + SRF State Ambassador, California

Earl, Kaia, Harper, and Zoe Bailey

46) Holly Prantil; Atlanta, GA; Josey, Age 14, Diagnosed: July, 2023

As I know too well from our 14-year diagnostic journey, it can be a lonely experience fighting for your child’s ability to thrive when, despite the best efforts of doctors, friends, and family, there are no answers. All too often, I found that no one could relate to the isolation, worries, or struggles related to raising a rare child. Being able to recently join the SynGAP Research Fund family was like receiving a long overdue hug from a dear friend. SRF has provided the gift of both a community and a roadmap in everything SYNGAP1. This roadmap is indispensable for the twisty confusion of the scientific words and concepts that come at newly diagnosed parents like rapid-fire — words like mutation, VUS, and RNA sequencing. SRF has been a rock in the chaos that I, and so many others, felt prior to diagnosis and am certainly swirling in now, so soon after diagnosis. What has been amazing is that SRF understands where newly diagnosed families are coming from and is the village for which it seems many of us have been seeking. The web of knowledge that SRF provides is so valuable, but what is immeasurable is the much-needed extra arms in the fight to uplift my child, yours, and those of SRF’s leaders.

The reason I have chosen to commit some of my limited free time to working with SRF is simple. Lifting up rare children takes a village…and that village is stronger when bound together.  I am looking forward to working as a Co-Ambassador for Georgia’s SYNGAP1 families and befriending our local community. From there, I hope to meet more SRF families facing SYNGAP1 like I am and I hope to lift all of our kids by whatever means possible.

Holly Prantil, SRF Volunteer + SRF State Ambassador, Georgia

47) Jessica Bell & Justin Row; Bakersfield, CA; Greyson, Age 2, Diagnosed: August 22, 2023

It feels like a lifetime ago, but it was just last August that Greyson received his SYNGAP1 diagnosis. He was only 20 months old, and his delays seemed minor at first. Within a month of our initial concerns, we had the diagnosis, leaving us surprised and scrambling for answers. We immersed ourselves in online research, determined to understand what this meant for Greyson and our family.

Thankfully, I found the SynGAP Research Fund (SRF) website, which offered immediate connection with other families on the same journey. Within a week, I was contacted by Corey, a fellow mom who offered empathy and reassurance. Shortly after, Kathryn, SRF’s CSO, scheduled a Zoom call to explain the science behind SYNGAP1 in detail to both Justin and me. Peter, SRF’s Development Director, followed up, offering a dad’s perspective and allowing Justin to ask questions and process the diagnosis. Finally, we spoke with Mike, SRF’s founder, who grounded us with a powerful message of hope. He emphasized the incredible work SRF is doing for children like Greyson.

Now, I work with SRF on family fundraising. It brings me immense joy to give back to this incredible community that has done so much for my son and his future. SRF is a safe haven, and I’m forever grateful to everyone involved.

Jessica Bell, SRF Development Operations Coordinator

SYNGAP1 Conference, Orlando, December 2023

48) Justin & Ashley Albrecht; Whispering Pines, NC; Harper, Age 2, Diagnosed: October 2023

When Harper received her SYNGAP1 diagnosis after we observed global delay in motor and verbal milestones, our family had so many questions. Thankfully we were able to find and connect with the SynGAP Research Fund. SRF has so many resources that have helped our family navigate these last few months since her diagnosis.

With SRF, we feel as if we’ve been given an amazing opportunity to connect with other families on the same journey as ours. Receiving Harper’s diagnosis changed our lives forever, but connecting with SRF has also changed our perspective and given us more hope for the future. We have made lifelong friends and found wisdom from those who have traveled this path for years. We have been given the opportunity to participate in the Million Dollar Bike Ride in Philadelphia, traveled to Children’s Hospital of Philadelphia for a natural history study, and attended the annual conference in Florida. Through SRF, we have received a wealth of knowledge about Harper’s disease, volunteer opportunities that are organized and focused, and, most importantly, established friendships with people that understand both the beauty and the struggle of the daily experience of SYNGAP1.

– Justin Albrecht, SRF Volunteer

SRF at the SYNGAP1 Conference, Nashville, November 2022

49) Sara Driscoll & Jesse East; Richmond, VA; Mora, Age 1, Diagnosed: November 27, 2023

Mora’s diagnosis came as a shock to our family at the end of last November. We immediately dove right into the SynGAP Research Fund community who welcomed us with open arms, shoulders to cry on, and infinite wisdom regarding a diagnosis so few were aware even existed. With only approximately 1,400 known Syngapians globally, the SRF community shares an unexplainable, yet impermeable, bond.

Jesse and I are both mechanical engineers and well-versed in “getting into the weeds.” While we are new to volunteering for SRF, we are excited to showcase these skills in both grant management and in an emerging program centering around specific state benefits that are often available and necessary for facilitating happy, healthy lives for our Syngapians. We are proud to support SRF because the community has already assisted us so much in navigating life with Mora and our new diagnosis. SRF gives our families hope for a brighter future, particularly because science is at the forefront of the organization’s strategy.

Sara Driscoll, SRF Volunteer

50) Rainy Schlosser; Redding, CA; Hope, Age 4, Diagnosed: November 27, 2023

Between September and November 2023, Hope was diagnosed with both epilepsy and autism, as well as had surgery on both of her eyes. At the end of November, Hope was diagnosed with SYNGAP1, and I felt completely defeated. I didn’t want any more bad news. I didn’t tell anyone and didn’t research anything about SYNGAP1. A deep feeling of loneliness set in as I realized that no one in my life could understand what I was dealing with. After a period of mourning, I finally did a Google search, finding the SynGAP Research Fund. I joined SRF’s Facebook group and introduced Hope.

The number of welcoming responses I received was overwhelming. SYNGAP1 is so incredibly rare, yet the SRF community was extremely active and available. Soon after my initial digital introduction, I met Mike and Ashley and their lovely family. I was unsure of my next move, but decided to get involved by answering questionnaires and getting Hope into research studies and clinical trials. That is when the cross-country drive-a-thon, Hope4theCure 2024, was set in motion. While driving to three SYNGAP1 studies, we stopped and met other Syngapians. The bonds, connections, and friendships we made during this trip helped alleviate the severe loneliness I had when Hope was first diagnosed.

On this trip, I was invited to volunteer with SRF to connect with other SYNGAP1 families. This trip proved to me that this was an organization I wanted to support. Having a child with SYNGAP1 can be devastating, but for me, that devastation has been minimized because of all the love, support, and compassion the SynGAP Research Fund community has provided to both Hope and myself. I’m truly blessed to be able to give back a fraction of what SRF has given us. I am truly looking forward to getting more involved.

Rainy Schlosser, SRF Volunteer + SRF State Ambassador, California

Hayden, Minnie, Rainy, Hope, and Hope in Chicago during the Hope4theCure 2024 drive-a-thon

51) Farah Hannah Hall; Murrieta, CA; Oliver, Age 3, Diagnosed: February 21, 2024 

When Oliver received his SYNGAP1 diagnosis, our family had so many questions. Thankfully we were able to find and connect with the SynGAP Research Fund. SRF has so many resources that have helped our family navigate these last few months post-diagnosis. 

Through SRF, we’ve been given an amazing opportunity to connect with other families going through the same experience as our family. Receiving Oliver’s diagnosis changed our lives forever, but connecting with SRF has also changed our lives and instilled hope for the future.

Farah Hall, SYNGAP1-Related Disorder Family