Generated by All in One SEO v4.9.3, this is an llms.txt file, used by LLMs to index the site. # FamilieSCN2A Foundation The global leader in SCN2A-related autism & epilepsy research, advocacy, and community. ## Sitemaps - [XML Sitemap](https://www.scn2a.org/sitemap.xml): Contains all public & indexable URLs for this website. ## Posts - [Blog](https://www.scn2a.org/about-us/blog/) - Blog Insights, research updates, and stories from the SCN2A community — supporting families, raising awareness, and advancing understanding of rare epilepsy and autism. d o n a t e Reflections from AES: Collaboration, Momentum, and What’s Ahead for SCN2A December 23, 2025 Photo: Jeff Cottrell – Interim Chief Scientific Officer, Leah Myers – Executive Director, Angie Weaver - [Reflections from AES: Collaboration, Momentum, and What’s Ahead for SCN2A](https://www.scn2a.org/reflections-from-aes-collaboration-momentum-and-whats-ahead-for-scn2a/) - Photo: Jeff Cottrell – Interim Chief Scientific Officer, Leah Myers – Executive Director, Angie Weaver – Director of Philanthropy & Development, Amanda Gale – Program Manager. Missing from photo: Jenny Burke, Board Chair Our team returned from the American Epilepsy Society (AES) Annual Meeting feeling encouraged by the depth of collaboration across the epilepsy community and energized by the - [The FamilieSCN2A Foundation Response to Recent Autism News](https://www.scn2a.org/the-familiescn2a-foundation-response-to-recent-autism-news/) - “In light of this week’s public comments and media discussion about the causes and management of autism, we want you to know: we’re thinking of you. Moments like this can feel confusing or heavy—especially for families already navigating complex care. You’re not alone, and we’re here.” -Amanda Gale, FamilieSCN2A Program Manager, in 9/23/25 email inviting the community to a special town hall listening session - [Updates on the SCN2A Clinical Trial and Treatment Pipeline ](https://www.scn2a.org/updates-on-the-scn2a-clinical-trial-and-treatment-pipeline/) - The FamilieSCN2A Team: Amanda Gale – Program Manager, Angie Weaver – Director of Philanthropy & Development, Leah Myers – Executive Director, Jeff Cottrell – Interim Chief Scientific Officer, Melody Kisor – Director of Advocacy, and Morgan Weberg – Research Coordinator Dear SCN2A Community, Our team just returned from a wonderfully successful trip to the American - [What Baby KJ’s Breakthrough Means to Us](https://www.scn2a.org/what-baby-kjs-breakthrough-means-to-us/) - Town Hall Presentation by Shawn Egan, PhD and CSO, which is recorded here: Click Here There is excitement in the rare disease community about a cutting-edge treatment that may someday be helpful for other genetic conditions, such as SCN2A-related disorders. In this blog post, we’ll describe this breakthrough and discuss what it means for our community. - [From Advocacy to Action: SCN2A Now Has Its Own ICD-10 Code](https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/) - The FamilieSCN2A Foundation is thrilled to announce that advocacy efforts with the CDC over the last four years have resulted in the assignment of a unique ICD-10-CM code for the SCN2A community. Effective October 1, 2025, the new code for SCN2A-related neurodevelopmental disorders will be QA0.0101. “An ICD-10-CM code for SCN2A means that clinical care data - [What to Expect When Considering a Clinical Trial: Clinical Research 101](https://www.scn2a.org/what-to-expect-when-considering-a-clinical-trial-clinical-research-101/) - Thinking about participating in a clinical trial, but not sure what it really means for your child and your family? Learn What to Expect When Considering Participating in a Clinical Trial On July 20th, 2025, the FamilieSCN2A TASCO (Team for Accelerating Science and Clinical Outcomes) hosted a special fireside chat to walk through the basics - [Everlee’s Story: A Family’s Journey of Strength, Love, and Hope](https://www.scn2a.org/everlees-story-a-familys-journey-of-strength-love-and-hope/) - The story of Everlee Robles is one of strength, love, and the unbreakable bond that holds a family together in the face of uncertainty. From the moment she entered the world, her life was anything but ordinary. Born 8 weeks premature, Everlee spent the first weeks of her life in the NICU, fighting for her - [FINDING YOUR VOICE](https://www.scn2a.org/finding-your-voice/) - FINDING MY VOICE On a cold January morning during the first week of what, unbeknownst to me, would become a 5 month long stay at our local children’s hospital NICU, I was holding my daughter when I noticed every few minutes she would repeat this strange pattern with her body and face. I asked the - [Praxis Precision Medicines, Inc updated our SCN2A community on the status of their three SCN2A programs in development and their CIITIZEN partnership.](https://www.scn2a.org/praxis-precision-medicines-inc-updated-our-scn2a-community-on-the-status-of-their-three-scn2a-programs-in-development-and-their-ciitizen-partnership/) - PRAX-562 PRAX-562 is currently in phase 1 clinical trials (meaning it is being tested in humans). This agent has completed its single-ascending dose (SAD) portion of the phase 1 study and is now being evaluated in a multiple-ascending dose (MAD) portion of the trial. The SAD study was completed up to the maximum planned dose - [Decisions, Decisions, Decisions.](https://www.scn2a.org/decisions-decisions-decisions/) - As a parent of a non-verbal, non-ambulatory child I am forced to make decisions for her on a daily basis—what clothes will she wear, when and with what toys will she play, and the list goes on. While some of these decisions are trivial, others could have a major impact on her quality of life. - [It Takes a Village](https://www.scn2a.org/it-takes-a-village/) - After Eliana was born, we spent five months in the NICU of our local children’s hospital. I quickly realized how isolating our new journey was going to be. Research has shown that people who have unique experiences tend to report less positive feelings and a sense of exclusion compared to those who had shared, ordinary - [Why I Study SCN2A](https://www.scn2a.org/why-i-study-scn2a/) - I’m a neuroscience postdoctoral researcher in the lab of Loren Frank at UCSF. I’m fascinated by Scn2a because I want to understand the mechanism of Scn2a loss of function disorder and develop new treatments. During my MD/PHD training, I studied genetic causes of autism spectrum disorders and other developmental disorders with Chris Walsh at Boston - [Expanded Access Programs, What you Need to Know](https://www.scn2a.org/expanded-access-programs-what-you-need-to-know/) - Expanded Access Program May Offer Drug Access to SCN2A Kiddos Prior to a Potential Drug Approval – Praxis has disclosed that they will be opening an Expanded Access Program (EAP) which may provide medication to patients while their drugs are still in clinical development (pre-FDA approval). Praxis has 1 medication potentially in clinical development for SCN2A - [Industry Relations Updates](https://www.scn2a.org/industry-relations-updates/) - Industry Relations UpdatesAmerican Epilepsy Society Annual Meeting, Chicago 12/2022 Longboard Pharmaceuticals plans to initiate a phase 1b/2a* clinical study for their drug LP352 sometime between January 1st and March 31 of 2022. This will be a basket study (enrolling many different Developmental and Epileptic Encephalopathies) which includes SCN2A. The full details of the inclusion/exclusion criteria have yet to - [Not So Happy Holidays](https://www.scn2a.org/not-so-happy-holidays/) - During the holiday season leading up to Eliana’s birth, I can remember that excited feeling of knowing that from this point forward, the holidays were going to be so much different. They would now include playing in the snow, baking cookies and candies, highly anticipated visits from Santa, repositioning the Elf on the Shelf for - [Building Towards A Cure: 2022](https://www.scn2a.org/building-towards-a-cure-2022/) - With International SCN2A Awareness Day fast approaching, we are reflecting on the progress made last year and turning our attention to the new year filled with hope and possibility. Despite the challenges of 2021, the FamilieSCN2A Foundation thrived. › The SCN2A Clinical Trial Readiness Study began paving the way for new treatments for SCN2A-related disorders - [Positive Step Towards a Treatment for SCN2A Gain-of-Function Patients](https://www.scn2a.org/positive-step-towards-a-treatment-for-scn2a-gain-of-function-patients/) - Encouraging Initial Clinical Data for Praxis’ PRAX-222 in SCN2A Gain-of-Function DEEFirst in-human data for PRAX-222, an antisense oligonucleotide (ASO) in development for SCN2A gain-of-function was reported during a Praxis R&D day. This is the first clinical trial readout in SCN2A which represents an exciting milestone for our SCN2A community. To date, there have been 5 patients - [Promising Initial Relutrigine (Prax-562) Clinical Data](https://www.scn2a.org/promising-initial-relutrigine-prax-562-clinical-data/) - We will be hosting a SCN2A families only Town Hall this Thursday, 9/5/2024 at 12:00PM EST where we will be discussing these updates and data. Data Implication to our SCN2A CommunityThe initial phase 2 data for Relutrigine (Prax-562) looks promising for our community, and the update that the trial is expanding to a registrational trial - [The FamilieSCN2A Research Roundtable: A Family Perspective](https://www.scn2a.org/the-familiescn2a-research-roundtable-a-family-perspective/) - Our family first found out about our daughter Adeline’s SCN2A diagnosis in an online message. The message had been sitting in her MyChart inbox for ten days, unbeknownst to us. After we read the clipped 150-word note, We could not reach the geneticist who sent it to me for over a week. We called our - [AES 2024 Recap: Collaboration, Innovation, and Progress in Epilepsy Research](https://www.scn2a.org/aes-2024-recap-collaboration-innovation-and-progress-in-epilepsy-research/) - The 2024 American Epilepsy Society (AES) Annual Meeting was a dynamic gathering of clinicians, researchers, advocates, and caregivers committed to advancing epilepsy care and treatment. This year's event showcased groundbreaking research, fostered meaningful collaborations, and set the stage for future innovation. The FamilieSCN2A Foundation Team was proud to represent our #SCN2A community at the 2024 ## Pages - [Home](https://www.scn2a.org/) - Welcome to The FamilieSCN2A Foundation The global leader in SCN2A-related autism & epilepsy research, advocacy, and community. Discover the difference families make. d o n a t e Families Connected 0 Granted Research $ 0 M Papers Published 0 Countries 0 Conferences Hosted 0 Here you will find the world’s largest SCN2A community and the most - [Clinical Information](https://www.scn2a.org/scn2a-related-disorders/clinical-information/) - Clinical Information for Professionals Comprehensive resources to help clinicians and other professionals working with people with SRDs. d o n a t e SCN2A Resources for Clinicians "SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal - [EL-PFDD Meeting](https://www.scn2a.org/programs-events/pfdd/) - EL-PFDD Meeting Helping regulators and drug developers understand the unique needs of the SCN2A community D O N A T E Externally-led Patient-Focused Drug Development (EL-PFDD) Meetings We are pleased to announce the FamilieSCN2A Foundation will host an Externally-led Patient-Focused Drug Development (EL-PFDD) meeting in Fall 2026. The goal of this public meeting is to - [Donate](https://www.scn2a.org/donate/) - Seize the Moment Accelerate research now. Impact lives today. D O N A T E Your gift supports our mission. Make a donation today. Your donation directly fuels critical SCN2A research, raises awareness, and provides vital educational and emotional support to families affected by SCN2A-related disorders (SRD). Every dollar truly makes a difference - and - [ICD-10 Code](https://www.scn2a.org/scn2a-related-disorders/icd-10-code/) - ICD-10 Code QA0.0101 D O N A T E Effective October 1, 2025, the new code for SCN2A-related neurodevelopmental disorders is QA0.0101. From Advocacy to Action: SCN2A Now Has Its Own ICD-10 Code The FamilieSCN2A Foundation is thrilled to announce that advocacy efforts with the CDC over the last four years have resulted in the - [Family & Professional Conference](https://www.scn2a.org/programs-events/family-professional-conference/) - SCN2A Family & Professional Conference Bringing the SCN2A community together has a life-changing impact on all who attend. D O N A T E The most exciting and important event of the year is the world’s largest SCN2A-related gathering of families, researchers, clinicians, and industry.There’s nothing quite like being at the SCN2A Family & Professional - [Programs](https://www.scn2a.org/programs-events/programs/) - Programs The FamilieSCN2A Foundation provides a variety of programs to support the needs of the SCN2A community. D O N A T E Global Family Support Network The Global SCN2A Support Network is a private Facebook group established by the FamilieSCN2A Foundation for parents, caregivers, patients, and families of children with SCN2A-related disorders. The purpose - [Bereavement](https://www.scn2a.org/about-us/bereavement/) - Support for Bereaved SCN2A Families You are not alone... and we will always remember D O N A T E You Are Not Alone Losing a loved one, especially a child, is an indescribable pain - one that no family should have to face. Grief is complex, and no two experiences are the same. In - [Clinical Trials and Research Opportunities (2)](https://www.scn2a.org/research/clinical-trials-and-research-opportunities-2/) - Clinical Trials and Research Opportunities D O N A T E Research is the key! Research is the key to unlocking future treatments and potential cures for SCN2A-related disorders. The FamilieSCN2A Foundation is a global leader in sponsoring and funding critical research projects that aim to increase understanding of the disorders and work toward patient-centered - [How to Participate](https://www.scn2a.org/research/how-to-participate/) - How to Participate in Research Everything you need to know about participating in research d o n a t e Everything You Need to Know About Participating in Research Participation in research is our greatest hope for better treatments and cures for all SCN2A-related disorders! Get ready to participate in research by learning more about - [SCN2A Spectrum of Autism and Epilepsy](https://www.scn2a.org/scn2a-related-disorders/scn2a-spectrum-of-autism-and-epilepsy/) - SCN2A Spectrum of Autism and Epilepsy Changes, or variants, in the SCN2A gene can cause a wide variety of issues. Just as each human is a unique individual, so is each genetic variant. D O N A T E SCN2A-related disorders (SRDs) are often referred to as being on a spectrum because different variants affect - [Research Roadmap and Pipeline](https://www.scn2a.org/research/research-roadmap-and-pipeline/) - Research Roadmap and Treatment Pipeline D O N A T E Researchers are making tremendous progress on a variety of therapeutic interventions for SCN2A-related disorders, including small molecules (traditional drugs), ASO therapy, gene therapy, and targeted neurological interventions. Explore the research roadmap and treatment pipelines to see where we’re going and how far we’ve come! - [Research Network](https://www.scn2a.org/research/research-network/) - Research Network FamilieSCN2A collaborates with scientists and clinician researchers around the world to accelerate the study of SRDs. D O N A T E Join the Global Network of SCN2A Scientists and Clinician Researchers FamilieSCN2A brings together a global network of scientists and clinician researchers to collaborate, strategize, and learn. Professionals who are interested in - [Team Members](https://www.scn2a.org/about-us/team-members/) - Who We Are People with a vision of a world with effective treatments and cures for all SCN2A-related disorders. D O N A T E You Are Not Alone After All In 2012, the SCN2A gene was added to the list for genetic testing. As positive results occurred, mainly in children, parents were told by - [Key Publications](https://www.scn2a.org/research/key-publications/) - SCN2A Publications D O N A T E Key Publications Dedicated researchers from around the globe contribute to a growing body of scientific knowledge and understanding of SCN2A-related disorders. Many of these publications were made possible by support from The FamilieSCN2A Foundation and the families in the SCN2A community. With over 1,000 SCN2A publications to - [Resources](https://www.scn2a.org/caregivers/resources/) - Resources D O N A T E The FamilieSCN2A Foundation creates and curates resources from trusted partners to help families thrive and to inform clinicians, teachers, and other professionals involved in the care of those affected by SCN2A-related disorders.​ SCN2A Info Sheets and Educational Materials Infographics and brochures Newly-Diagnosed and Info Sheets Companion Guide to - [Donor Confidence](https://www.scn2a.org/about-us/donor-confidence/) - Donor Confidence Donors provide the fuel to accelerate SCN2A research and encourage affected families. d o n a t e Responsible Stewardship is Our Commitment Thank you for the trust you place in us when you choose to donate to our mission. The FamilieSCN2A Foundation is committed to providing the exceptional stewardship your investment deserves. As - [Research Funding](https://www.scn2a.org/research/research-funding/) - ResearchFunding FamilieSCN2A accelerates research by directly funding grants and projects and by sharing information on other grant opportunities. Learn about all of our grant recipients! d o n a t e With generous donor support, the FamilieSCN2A Foundation is excited to provide robust research funding opportunities through three different programs. Read about them here, then - [SCN2A Awareness Day](https://www.scn2a.org/programs-events/events/scn2a-awareness-day/) - SCN2AAwarenessDay Learn about the significance of the date 24 February and how we recognize it! d o n a t e Significance of the date - 2/24 In 2017, the FamilieSCN2A Foundation established International SCN2A Awareness Day, celebrated each year on February 24th — a date chosen because the SCN2A gene is located on the - [Newly Diagnosed](https://www.scn2a.org/caregivers/newly-diagnosed/) - NewlyDiagnosed Learning that someone you care for has been diagnosed with an SCN2A-related disorder may be overwhelming. We understand—we have been there. D O N A T E You are not alone! Here you will find a caring community and abundant resources on SCN2A-related disorders (SRDs). Whether you have a newborn baby with epilepsy or - [Clinical Care Centers](https://www.scn2a.org/caregivers/multidisciplinary-centers/) - SCN2A Clinical Care Centers Coordinated care and expertise for SCN2A-related disorders from Multidisciplinary Care Centers and research centers of excellence. D O N A T E The FamilieSCN2A Foundation recognizes the need for specialized care for families affected by SCN2A-related disorders. Thanks to the generous support of our donors and community, we have launched the - [Contact Form](https://www.scn2a.org/contact-form/) - Newsletter Stay in the loop - get research updates, inspiring stories, and ways to make a difference delivered to your inbox. d o n a t e Join Our Mailing List We never sell or share your data! First Name Last Name Email Are you family to someone affected with SCN2A-related disorders? Yes No Are - [Advocacy](https://www.scn2a.org/about-us/advocacy/) - Advocacy Advancing the FamilieSCN2A Foundation’s mission by amplifying the voice of the SCN2A community and ensuring patient perspectives are at the center of science, policy, and care. D O N A T E Empowering the SCN2A Advocate “Every voice, every post, every act of participation moves us closer to awareness and change” – Amanda Gale, - [Glossary](https://www.scn2a.org/glossary/) - Glossary of SCN2A-Related Terms Learning how to talk and read about SCN2A and SCN2A-related disorders may require some new vocabulary. D O N A T E This glossary is a collection of terms that will be helpful to understand when learning about SCN2A-related disorders. It will unlock the scientific language used in research papers, scientific - [Patient-Centered Drug Development](https://www.scn2a.org/research/patient-centered-drug-development/) - Patient-Centered Drug Development Learn how FamilieSCN2A Foundation engages in patient-centered drug development by amplifying the patient voice with regulatory agencies and industry partners. D O N A T E Patient-Centered Drug Development is an intentional effort to ensure that patient needs and priorities are meaningfully included at all stages of clinical research and development. Regulatory - [Join the Research Network](https://www.scn2a.org/research/join-the-research-network/) - Join the Research Network Everything you need to know about participating in research d o n a t e - [Press Releases](https://www.scn2a.org/about-us/press-releases/) - In the News Important announcements shared with the world! D O N A T E Press Releases FamilieSCN2A Foundation Announces 2025 Action Potential and Accelerator Award Recipients August 19, 2025 Read more FamilieSCN2A Foundation Expands Multidisciplinary Care with Children's Hospital Colorado Neurogenetics Clinic February 24, 2025 Read more FamilieSCN2A and Cellectricon Partner to Accelerate Drug - [Media](https://www.scn2a.org/about-us/media/) - News & Media Everything SCN2A, delivered to you, right here: press releases, newsletters, the "Unraveling SCN2A" blog, FamilieSCN2A YouTube channel, and key publications. d o n a t e Breaking News: Conference Recap! A spotlight on the latest news: There’s nothing quite like being at the SCN2A Family & Professional Conference—surrounded by families who understand - [Events](https://www.scn2a.org/programs-events/events/) - Events Throughout the year, FamilieSCN2A hosts and encourages opportunities for the SCN2A community to come together. D O N A T E SCN2A Warrior Challenge Every October, SCN2A Warriors around the world come together to celebrate the FamilieSCN2A Foundation's anniversary by creating a customized event in their own communities. Whether it's a walk, run, roll, - [Welcome Packets ES](https://www.scn2a.org/caregivers/welcome-packets-es/) - SCN2A Info in Spanish D O N A T E These informative documents provide easy handouts to share with care providers. This information is intended for educational purposes only. Please consult your doctor for medical advice. Download all SCN2A Welcome An overview of the FamilieSCN2A Foundation and the services we provide. View PDF SCN2A in - [Welcome Packets PT](https://www.scn2a.org/caregivers/welcome-packets-pt/) - SCN2AInfo inPortuguese D O N A T E These informative documents provide easy handouts to share with care providers. This information is intended for educational purposes only. Please consult your doctor for medical advice. Download all SCN2A Welcome An overview of the FamilieSCN2A Foundation and the services we provide. View PDF SCN2A in a Nutshell - [Welcome Packets KO](https://www.scn2a.org/caregivers/welcome-packets-ko/) - SCN2A Info inKorean D O N A T E These informative documents provide easy handouts to share with care providers. This information is intended for educational purposes only. Please consult your doctor for medical advice. Download all SCN2A Welcome An overview of the FamilieSCN2A Foundation and the services we provide. View PDF SCN2A in a - [About Us](https://www.scn2a.org/about-us/) - About us The FamilieSCN2A Foundation was created by parents of children diagnosed with rare forms of epilepsy and autism as a result of a change in the SCN2A gene. d o n a t e Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build - [Family Education & Support](https://www.scn2a.org/caregivers/family-education-support/) - Education & Support Living with an SCN2A-related disorder can be challenging. We believe in empowering the community with tools to enhance the quality of life for all affected by SRDs. D O N A T E An important part of the FamilieSCN2A mission is to empower families to advocate for themselves in a world where - [Programs & Events Overview](https://www.scn2a.org/programs-events/programs-events-overview/) - Find important dates here D O N A T E Calendar of Events - [Families Stories 2](https://www.scn2a.org/about-us/families-stories-2/) - Family Stories "Families" is part of our name for a reason. Every family has a unique story illustrating how SCN2A has affected their lives. D O N A T E Meet our SCN2A Warriors! 'Warriors' is a term of endearment used to honor the brave children and adults who persevere through the daily trials of - [Get Involved](https://www.scn2a.org/caregivers/get-involved/) - Get Involved Get involved and make a difference! Whether you donate, volunteer, or help raise awareness, your support brings us one step closer to life-changing treatments and hope for families affected by SCN2A-related disorders. D O N A T E Spread Awareness by Sharing Your Story These personal pages are a way for you to - [Welcome Packets EN](https://www.scn2a.org/caregivers/welcome-packets/) - SCN2A Info D O N A T E These informative documents provide easy handouts to share with care providers. This information is intended for educational purposes only. Please consult your doctor for medical advice. Welcome An overview of the FamilieSCN2A Foundation and the services we provide. View PDF SCN2A in a Nutshell A brochure to - [SCN2A Comorbidities](https://www.scn2a.org/scn2a-related-disorders/scn2a-comorbidities/) - SCN2AComorbidities Comorbidities are symptoms or conditions that occur at the same time. SCN2A-related disorders may have one or more of these. D O N A T E Comorbidities may be discovered before or after the genetic diagnosis of an SCN2A-related disorder. The direct, or causal, relationship between symptoms, conditions, and genetics is not always clear. - [SCN2A-Related Disorders](https://www.scn2a.org/scn2a-related-disorders/) - SCN2A-Related Disorders Changes in the SCN2A gene can cause a range of health issues known as SCN2A-related disorders. Learn more about this important gene. D O N A T E What are SCN2A-Related Disorders? The SCN2A gene is like a set of instructions inside the body to help the brain work properly. This gene helps - [Annual Campaign](https://www.scn2a.org/programs-events/events/annual-campaign/) - AnnualCampaign d o n a t e Seize the Moment Seize the Moment - is our powerful call to action in this year’s annual campaign to kick off our 10th year. We have a goal to raise $100,000 by April 1st to make a transformational impact on the lives of families living with an SCN2A-related - [Warrior Challenge](https://www.scn2a.org/programs-events/events/warrior-challenge/) - Warrior Challenge This event exemplifies our commitment to fostering community involvement and advancing research toward effective treatments and a cure for SCN2A-related disorders. d o n a t e Join the Movement. Support the Mission. Make an Impact. The SCN2A Warrior Challenge is our annual virtual event that brings together families, friends, and advocates from - [SuperSibs Club Form](https://www.scn2a.org/programs-events/events/supersibs-club-form/) - SuperSibsClub Supporting sibling of children with SCN2A-related disorders. d o n a t e Welcome to the SuperSibs Club! We are thrilled to have you on board. Our club is committed to creating support for the siblings of children with SCN2A-related disorders. Join SuperSibs Club First Name Last Name Email Age of SuperSib Parent/Guardian First - [The Genetics of SCNA2](https://www.scn2a.org/scn2a-related-disorders/the-genetics-of-scna2/) - Genetics & Physiology of SCN2A D O N A T E SCN2A is one of the genes most associated with early-onset epilepsy and has been identified as the leading single-gene cause of autism spectrum disorder. It is helpful to have an understanding of genetics and physiology, or how genes work in the body. A common - [SCN2A Explained](https://www.scn2a.org/scn2a-related-disorders/scn2a-explained/) - SCN2A Explained The SCN2A gene helps regulate neuronal excitability, support brain development, and contribute to learning and memory. d o n a t e What is the Function of the SCN2A Gene? The SCN2A gene, situated on chromosome 2 (illustrated below), provides instructions for creating a sodium channel protein vital for brain cell communication. Pathogenic - [Research](https://www.scn2a.org/research/) - Research SCN2A-related disorders today are at the forefront of scientific research and supported by a global community. D O N A T E How to Participate in Research Get ready to participate in research by learning more about clinical trial basics, types of research, and participant rights, responsibilities, & protections. Learn More Research Roadmap and - [Caregivers](https://www.scn2a.org/caregivers/) - Caregivers Caring for a loved one with an SCN2A-related disorder is a journey filled with challenges as well as moments of unexpected joy. In the midst of daily routines and responsibilities, it's often the small, meaningful moments that leave lasting impressions - a brief smile, a shared laugh, or a quiet moment of connection. D - [Programs & Events](https://www.scn2a.org/programs-events/) - Programs & Events We bring together families, medical professionals, and researchers through programs and events to improve care and find cures for SCN2A-related disorders. D O N A T E The FamilieSCN2A Foundation is dedicated to supporting groundbreaking research and advancing awareness for SCN2A-related disorders. From educational webinars and community outreach initiatives to our annual conference, - [Event Organizers](https://www.scn2a.org/event-organizers/) - [em_event_organizers] - [American Epilepsy Society Conference](https://www.scn2a.org/programs-events/events/american-epilepsy-society-conference/) - American Epilepsy Society Conference Lorem ipsum dolor amet, consectetur adipiscing elit. Aliquam vel fringilla, id sagittis elit. d o n a t e 2023 Poster Lorem ipsum dolor sit amet, consectetur adipiscing elit. Aenean dolor quam, ultricies ut iaculis ac, commodo eget metus. Vivamus sed gravida sem, eu tincidunt magna. Sed sollicitudin scelerisque orci ac - [Still Undiagnosed](https://www.scn2a.org/still-undiagnosed/) - Still Undiagnosed Lorem ipsum dolor amet, consectetur adipiscing elit. Aliquam vel fringilla, id sagittis elit. OFFER A DONATION Still undiagnosed? Sometimes getting a diagnosis can be the hardest part of the journey. There are resources available if you think you or your child may have SCN2A. The following resources will help you get closer to - [Caregivers 2](https://www.scn2a.org/caregivers-2/) - Caregivers Lorem ipsum dolor amet, consectetur adipiscing elit. Aliquam vel fringilla, id sagittis elit. OFFER A DONATION Introductory write up. A few sentences. List of sections below will link to new pages (numbers are for reference and correlation only). Lorem ipsum dolor sir amet, consectetur adipiscing elit. Aliquam vel fringil Your Journey Begins Here Newly ## My Templates - [Responsive Menu](https://www.scn2a.org/?elementor_library=responsive-menu) - About Us About UsWho We AreFamily StoriesBereavement2022-2025 Strategic PlanAdvocacyNews & MediaDonor Confidence What is SCN2A? SCN2A-Related DisordersSCN2A ExplainedThe Genetics of SCN2ASCN2A Spectrum of Autism and EpilepsySCN2A ComorbiditiesClinical InformationICD-10 CodeKey PublicationsGlossary Programs & Events Programs & EventsProgramsEventsCalendarEL-PFDD MeetingFamily & Professional Conference Caregivers CaregiversGet InvolvedNewly DiagnosedEducation & SupportClinical Care CentersBereavementGlossaryResources Research ResearchHow to Participate in ResearchResearch Roadmap - [Join the Research Network](https://www.scn2a.org/?elementor_library=join-the-research-network) - Content area - [Family Stories 01](https://www.scn2a.org/?elementor_library=family-stories-01) - Elizabeth Elizabeth Hi! I'm Elizabeth. Loves Mickey. Loves looking at herself in the mirror. Sings head, shoulders, knees and toes like it’s her job. Has the cutest run and cutest kisses. Our Daughter, Elizabeth was diagnosed with SCN2A mutation loss of function in 2022. She’s now 2 years old. She has global delay. She does - [Family Stories 02](https://www.scn2a.org/?elementor_library=family-stories-02) - Brooks Brooks Hi! I'm Brooks. Loves Mickey. Loves looking at herself in the mirror. Sings head, shoulders, knees and toes like it’s her job. Has the cutest run and cutest kisses. Our Daughter, Elizabeth was diagnosed with SCN2A mutation loss of function in 2022. She’s now 2 years old. She has global delay. She does - [Family Stories 03](https://www.scn2a.org/?elementor_library=family-stories-03) - Hudson Hudson Hi! I'm Hudson! I like riding on my jeep, swinging, bubbles, books, puzzles, singing songs like "Wheels on the Bus", airplanes, anything that spins, and I love to EAT! I'm in Pre-School and live at home with Mom and Dad in Texas, United States. I had a pretty normal first 23 months of - [SCN2A Warriors](https://www.scn2a.org/?elementor_library=scn2a-warriors) - A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & Raegan L Laianna Leah Levi Liam M Mark Marty Mateo Miles N Nikol O Oscar Otto - [Classic Hub Kit](https://www.scn2a.org/?elementor_library=liquid-kit) - [The Events Calendar - Starter](https://www.scn2a.org/?elementor_library=the-events-calendar-starter) - [The Events Calendar - Dynamic template](https://www.scn2a.org/?elementor_library=the-events-calendar-dynamic-template) - Photo: Jeff Cottrell – Interim Chief Scientific Officer, Leah Myers – Executive Director, Angie Weaver – Director of Philanthropy & Development, Amanda Gale – Program Manager. Missing from photo: Jenny Burke, Board Chair Our team returned from the American Epilepsy Society (AES) Annual Meeting feeling encouraged by the depth of collaboration across the epilepsy community and energized by the - [Default Kit](https://www.scn2a.org/?elementor_library=default-kit) - [Carousel – Item 01](https://www.scn2a.org/?elementor_library=carousel-item-01) - Landing Hub Pro Personal data protection for tech businesses. Hub IT allows your business and technology computers to store, transmit, analyze, and manipulate big data. Business Consultation Corporate Financial Advisory Explore Hub - [Get in touch](https://www.scn2a.org/?elementor_library=get-in-touch) - Get in touch We are here to answer any question you may have. Feel free to reach via contact form. 290 Maryam Springs 260,Courbevoie, Paris Email: hello@liquid-themes.com Phone: +47 213 5941 295 - [Carousel - Investing in Digital Companies​](https://www.scn2a.org/?elementor_library=carousel-investing-in-digital-companies) - Investing in Digital Companies Hub IT allows your business and technology computers to store, transmit and analyze. - [Carousel - Business Consultation](https://www.scn2a.org/?elementor_library=carousel-business-consultation) - Securing Digital Payment Hub IT allows your business and technology computers to store, transmit and analyze. - [Carousel - Financial Advisory](https://www.scn2a.org/?elementor_library=carousel-financial-advisory) - Building the idea of future Hub IT allows your business and technology computers to store, transmit and analyze. ## Headers - [Main Header](https://www.scn2a.org/?liquid-header=classic-hub-main-header) - About Us Who We Are Family Stories Bereavement 2022-2025 Strategic Plan Advocacy News & Media Donor Confidence SCN2A-Related Disorders SCN2A Explained The Genetics of SCN2A SCN2A Spectrum of Autism and Epilepsy SCN2A Comorbidities Clinical Information ICD-10 Code Key Publications Glossary Programs & Events Programs Events Calendar EL-PFDD Meeting Family & Professional Conference Caregivers Get Involved ## Footers - [Main Footer](https://www.scn2a.org/?liquid-footer=classic-hub-main-footer) - The FamilieSCN2A Foundation is a registered 501(c)(3). FEIN 47-3169795 P.O. Box 4260 Gettysburg, PA 17325 info@scn2a.org Contact us Who are we? The FamilieSCN2A Foundation was founded in 2015 by parents of children diagnosed with rare forms of epilepsy and autism as a result of a change in the SCN2A gene. The SCN2A gene helps regulate neuronal ## Portfolios - [Data Analysis](https://www.scn2a.org/portfolio/data-analysis/) - Project Details Date: Sep 2021Client: Apple Inc.Location: London, UKTask: Data Analysis Get a Free Quote Data Analysis Take advantage of the experiential-learning opportunities built into many programs. You can work in labs on and off campus or even spend semesters overseas. One Construction employs over 3 000 employees, the majority of whom are based on - [RD Service Plan](https://www.scn2a.org/portfolio/rd-service-plan/) - Project Details Date: Sep 2021Client: Apple Inc.Location: London, UKTask: Data Analysis Get a Free Quote Data Analysis Take advantage of the experiential-learning opportunities built into many programs. You can work in labs on and off campus or even spend semesters overseas. One Construction employs over 3 000 employees, the majority of whom are based on - [Startup Investment](https://www.scn2a.org/portfolio/startup-investment/) - Project Details Date: Sep 2021Client: Apple Inc.Location: London, UKTask: Data Analysis Get a Free Quote Data Analysis Take advantage of the experiential-learning opportunities built into many programs. You can work in labs on and off campus or even spend semesters overseas. One Construction employs over 3 000 employees, the majority of whom are based on - [Global Data Analysis](https://www.scn2a.org/portfolio/global-data-analysis/) - Project Details Date: Sep 2021Client: Apple Inc.Location: London, UKTask: Data Analysis Get a Free Quote Data Analysis Take advantage of the experiential-learning opportunities built into many programs. You can work in labs on and off campus or even spend semesters overseas. One Construction employs over 3 000 employees, the majority of whom are based on - [Research and Development](https://www.scn2a.org/portfolio/research-and-development/) - Project Details Date: Sep 2021Client: Apple Inc.Location: London, UKTask: Data Analysis Get a Free Quote Data Analysis Take advantage of the experiential-learning opportunities built into many programs. You can work in labs on and off campus or even spend semesters overseas. One Construction employs over 3 000 employees, the majority of whom are based on - [Immediate settlement](https://www.scn2a.org/portfolio/immediate-settlement/) - Project Details Date: Sep 2021Client: Apple Inc.Location: London, UKTask: Data Analysis Get a Free Quote Data Analysis Take advantage of the experiential-learning opportunities built into many programs. You can work in labs on and off campus or even spend semesters overseas. One Construction employs over 3 000 employees, the majority of whom are based on ## Stories - [Carson](https://www.scn2a.org/stories/carson/) - Hi! I'm Carson! Read my story! d o n a t e Hi, I'm Carson. Carson loves video games and anime. He likes to read and learn about animals and art. His favorite thing to do is hang out with his sister. Carson's SCN2A diagnosis was not confirmed until he was 18 years old. However, - [Volodymyr](https://www.scn2a.org/stories/volodymyr/) - Meet Volodymyr Read his story... d o n a t e Volodymyr Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Zayden](https://www.scn2a.org/stories/zayden/) - Meet Zayden Read his story... d o n a t e Zayden’s favorite person is his big sister Everyone meet Zayden. Zayden is 2 years old and the sunshine on everyone’s rainy day. Zayden enjoys watching Cocomelon, playing with his sister, and playing with his toys. Around 18 months old, I noticed that Zayden was - [Zachariah](https://www.scn2a.org/stories/zachariah/) - Hi, I'm Zachariah! Read my story... d o n a t e Hi everyone, I’m Zachariah but lots of people call me Zach. I love to dance and currently my favorite song is 'Old MacDonald Had a Farm' so I can shout all the animal noises as loudly as possible! I was diagnosed with SCN2A - [Theo](https://www.scn2a.org/stories/theo/) - Hi, I'm Theo! Read my story... d o n a t e Hi, I'm Theo from Wendover, Bucks. I love the beach! Listening to the waves and paddling in the sea. I am extremely brave and am known as Super Thee to my friends and family. Theo is a happy, smiley, affectionate and loving six - [Taylor](https://www.scn2a.org/stories/taylor/) - Meet Taylor Read his story... d o n a t e Taylor's favorite toy since he was a baby is a dancing Santa that sings Holly Holly Christmas. Taylor's birth and early days were normal. At about 4 months I sensed something was not right (he is my 4th). He quit sleeping and was not - [Sabin](https://www.scn2a.org/stories/sabin/) - Hi, I'm Sabin! Read my story... d o n a t e Hi, I'm Sabin from San Felice Circeo (LT), Italy. I love to be pampered and in the center of attention. My whole world is my Mommy. Hi everyone. I'm Sabin, I'm 4 and a half years old and I live in Italy. I - [Rylee](https://www.scn2a.org/stories/rylee/) - Hi, I'm Rylee! Read my story... d o n a t e Hi, I'm Rylee. Rylee loves cuddling, bubbles, miss Rachel, and toys that make noise and light up. Rylee is a twin of her brother Aiden, by the time she was 6 months old I knew there was something going on. From there I - [Quinn](https://www.scn2a.org/stories/quinn/) - Meet Quinn Read his story... d o n a t e Quinn Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Quintin](https://www.scn2a.org/stories/quintin/) - Hi, I'm Quintin! Read my story... d o n a t e Hi, I'm Quintin, but everyone calls me, "Q". I love spending time with my family and classmates. I especially love swimming in the therapy pool at school, listening to stories, and dancing to music! I live in New York with my mom, dad, - [Parker](https://www.scn2a.org/stories/parker/) - Meet Parker Read his story... d o n a t e Parker learned how to roll over at 1 month old! Parker is a 6 month old sweet baby boy who loves cuddles, reading colorful books, and trying new foods! Parker was born in Germany and struggled to eat and was diagnosed with Failure to - [Otto](https://www.scn2a.org/stories/otto/) - Meet Otto Read his story... d o n a t e Otto likes taking baths and co sleeping He was diagnosed when he was 5 days old with epileptic encephalopathy he had seizures since he was 2 days old and he would cry all the time. Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena - [Oscar](https://www.scn2a.org/stories/oscar/) - Meet Oscar Read his story... d o n a t e Oscar is very expressive: he’s never short on smiles that can light up a room. Oscar is a happy 6-year-old. His first observed seizure was seen the morning after he was born, and after nearly three months split between NICUs at two hospitals he - [Nikol](https://www.scn2a.org/stories/nikol/) - Hi, I'm Nikol! Read my story... d o n a t e Hi, I'm Nikol from Kiev, Ukraine. I like to sleep! I live in Ukraine with my mom and dad, but I still was not at home. From birth until now (4 months) I havebeen in the hospital, in intensive care. I am diagnosed - [Miles](https://www.scn2a.org/stories/miles/) - Hi, I'm Miles! Read my story... d o n a t e Miles's smile is contagious and radiates joy! Hi, my name is Miles. I live in Michigan with my parents, Dan & Lindsay, & my sister, Juliet and brother, Elijah. I am the youngest and have brought so my love and joy into my - [Mateo](https://www.scn2a.org/stories/mateo/) - Hi, I'm Mateo! Read my story... d o n a t e Hi! I'm Mateo from Athens, Georgia. ¡Hola! Soy Mateo de Athens, Georgia. My favorite color is green! I love to have chips with all my meals! I get excited with Mickey Mouse Clubhouse songs and I fake cry to not work on therapy. - [Marty](https://www.scn2a.org/stories/marty/) - Hi, I'm Marty! Read my story... d o n a t e #1 Fan of The Wiggles! Meet Martin a 3-year-old happy, little boy, who loves to wiggle, dance, and spend time with his Momma, Dada and older Sissy– who chose his name “Marty”. Marty was born a seemingly healthy full-term baby boy weighting 8 - [Josephine](https://www.scn2a.org/stories/josephine/) - Meet Josephine Read her story... d o n a t e Josephine's from Bentonville, Arkansas. Her favorite show is Blue's Clues. Josephine was born with seizures, and we noticed her having them on the 2nd day of her life. She has overcome many obstacles and has finally gotten control of her seizures starting in 2021 - [KennedyRaegan](https://www.scn2a.org/stories/kennedyraegan/) - Hi, we're Kennedy & Raegan! Read our story... d o n a t e Hi, we're Kennedy & Raegan from Eastlake, Ohio. We're both named after Presidents! Meet Kennedy and Raegan! Two sisters who have a lot in common—they both love Simple Songs, are named after Presidents, and both have been diagnosed with an SCN2A - [Laianna](https://www.scn2a.org/stories/laianna/) - Hi, I'm Laianna! Read my story... d o n a t e Hi, I'm Laianna from Columbus, Ohio. I'm a happy baby! Laianna was diagnosed at a day old. Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G - [Leah](https://www.scn2a.org/stories/leah/) - Hi, I'm Leah! Read my story... d o n a t e Hi, I'm Leah from Bennington, Vermont. I love music. I live with my mom (Ashley), Dad (Keith), and dog Brooklyn and my cat Boots Meow. My favorite things are music, books, animals, aquariums, and going to the ocean. I enjoy watching the "Garfield - [Levi](https://www.scn2a.org/stories/levi/) - Hi, I'm Levi! Read my story... d o n a t e Hi! I'm Levi from Kitimat, BC Canada. My favorite things are: school (LOVES), going for walks & being outside, looking at books, being held, action songs, shaking/tapping toys, and hanging out with my big sister Dylan! As a result of these mutations I - [Liam](https://www.scn2a.org/stories/liam/) - Hi, I'm Liam! Read my story... d o n a t e Hi, I'm Liam from Greenlawn, New York. I love my beard and never met an iPhone or iPad that I didn’t like! Our Liam is 24 years old. He has SCN2A with loss of function and autism. We first found out from a - [Mark](https://www.scn2a.org/stories/mark/) - Hi, I'm Mark! Read my story... d o n a t e I love to laugh and tickles are my favorite! I'm from Maryland, where I live with my Mom, Dad, sister Jillian and brother Luke. I go to a special preschool for children with autism because I was diagnosed with Autism Spectrum Disorder as - [Jax](https://www.scn2a.org/stories/jax/) - Meet Jax Read his story... d o n a t e Jax Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Isaiah](https://www.scn2a.org/stories/isaiah/) - Hi, I'm Isaiah! Read my story... d o n a t e I am very tactile and enjoy my chewy! Hi. My name is Isaiah and I am 3 years old. SCN2A does not define me but it is a pivotal point in my life. My journey began months prior to receiving an SCN2A diagnosis. - [Henry](https://www.scn2a.org/stories/henry/) - Meet Henry Read his story... d o n a t e Henry loves music, nature and books. Henry was diagnosed with SCN2A gene mutation around 2020 after he had 5 seizures in 3 days. It was very devastating news for our family. At that time, we lost all of our hope because there was very - [Henry S](https://www.scn2a.org/stories/henry-s/) - Hi! I'm Henry! Read my story... d o n a t e I am from Freeport, Maine. I LOVE strawberries, chocolate milk, and anything involving peanut butter. I'm from Maine, where I live with my Mom, Dad, my big sister Cora, my little brother Dominic, and our bouncing Jack Russel Terrier, Murphy. I am in - [Harry](https://www.scn2a.org/stories/harry/) - Hi! I'm Harry! Read my story... d o n a t e I am from Garden City, New York. I love all things trains, especially steam trains! Our SCN2A warrior Harrison (Harry for short), is a warm and loving little boy, who loves to give "squeezies" (hugs), play with cars and trains, do puzzles, and - [Grayson](https://www.scn2a.org/stories/grayson/) - Meet Grayson Read his story... d o n a t e Grayson Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Ethan](https://www.scn2a.org/stories/ethan/) - Meet Ethan Read his story... d o n a t e Ethan Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Colin](https://www.scn2a.org/stories/colin/) - Meet Colin Read his story... d o n a t e Colin Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Ashlyn](https://www.scn2a.org/stories/ashlyn/) - Meet Ashlyn Read her story... d o n a t e Ashlyn Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Amelia](https://www.scn2a.org/stories/amelia/) - Meet Amelia Read her story... d o n a t e Amelia Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F Francisco G Grayson Gianna H Harper Harry Henry S. Henry Hudson I Isaiah J Jax Josephine K Kennedy & - [Hudson](https://www.scn2a.org/stories/hudson/) - Hi, I'm Hudson! Read my story! d o n a t e I like riding on my jeep, swinging, bubbles, books, puzzles, singing songs like "Wheels on the Bus", airplanes, anything that spins, and I love to EAT! I'm in Pre-School and live at home with Mom and Dad in Texas, United States. I had - [Carney](https://www.scn2a.org/stories/carney/) - Hi! I'm Carney! Read my story! d o n a t e Carney is a 4.5 year old non verbal little girl. We just recently discovered she has the SCN2A gene. Meet Other SCN2A Warriors! A Alex Amelia Ashlyn Athena B Benjamin Brooks C Carney Carson Colin E Elizabeth Emily Emily D. Ethan Everlee F - [Brooks](https://www.scn2a.org/stories/brooks/) - Meet Brooks Read his story! d o n a t e July 18th, 2019 my wife Chelsea, daughter Everly, and I welcomed our son/brother Brooks into this world. Yes, our son. Can you believe it? A boy. I grew up in a family of girls and married into a family of girls. I think anyone - [Benjamin](https://www.scn2a.org/stories/benjamin/) - Hi! I'm Benjamin I am a serial hugger! d o n a t e Benjamin, known to all that love him as Ben, is an adorable 8 year old that resides in Gettysburg, PA with his mom, Leah Schust, dad, Brant Myers and his grandmother, Suzanne Schust (A.K.A Mimi.) His family waited a long time - [Athena](https://www.scn2a.org/stories/athena/) - Hi! I'm Athena! Read my story! d o n a t e Athena loves anything mechanical to see how things work. She loves learning hands on and being a little social butterfly everywhere she goes. Athena was born a little tiny peanut at only 4 pounds 10 ounces. Other than being tiny, she seemed rather - [Alex](https://www.scn2a.org/stories/alex/) - Meet Alex! Read his story... d o n a t e SCN2A-related seizures that began at birth in 2000 have robbed sweet Alex of the ability to enjoy things most of us take for granted every day. As a toddler he enjoyed walking (although wobbly), eating (messy!), babbling (his own language), laughing, and smiling. A - [Elizabeth](https://www.scn2a.org/stories/elizabeth/) - Hi! I'm Elizabeth! Read my story! d o n a t e Loves Mickey. Loves looking at herself in the mirror. Sings head, shoulders, knees and toes like it’s her job. Has the cutest run and cutest kisses. Our Daughter, Elizabeth was diagnosed with SCN2A mutation loss of function in 2022. She’s now 2 years - [Emily](https://www.scn2a.org/stories/emily/) - Hi, I'm Emily! Read my story! d o n a t e My special talent is keeping secrets and bringing a smile to people's faces. I love school and I attend most of my day in a regular education setting. I live in Minnesota with my: mom, dad, sister Isabelle and dog Tito. As a - [Emily D.](https://www.scn2a.org/stories/emily-d/) - Hi, I'm Emily! Read my story! d o n a t e Emily is a great multi-tasker! She can eat, sleep and float around her pool all at the same time because of her G-tube. Hi, my name is Emily Katherine Dedon. My mommy is typing this for me. I am nonverbal and non-mobile but - [Everlee](https://www.scn2a.org/stories/everlee/) - Hi, I'm Everlee! Read my story! d o n a t e She is our ray of sunshine, and we wouldn’t have her any other way. Despite the difficulties of her journey with SCN2A, Everlee is a spirited and determined 2-year-old who brings boundless joy to everyone around her. She has five loving SuperSibs who - [Francisco](https://www.scn2a.org/stories/francisco/) - Hi, I'm Francisco! Read my story! d o n a t e Hi, I'm Francisco from São Paulo. I'm curious and I eat a lot! I love to hear my mommy and sister talking and playing with me. My dad is my best friend. We have 2 kids, Julia Cauzo, she's 2 1/2 years old - [Gianna](https://www.scn2a.org/stories/gianna/) - Hi, I'm Gianna! Read my story! d o n a t e Hi! I'm Gianna from New York. I love Elmo, playing peek-a-boo, popping bubbles, singing, books, and splashing in my dogs water bowl (even though my parents try to stop me). I live with my Mom, Dad, younger brother and dog, Nugget! In my - [Harper](https://www.scn2a.org/stories/harper/) - Hi, I'm Harper! Read my story! d o n a t e Harper's smile and laughter light up the world! Harper was born a healthy little girl in November of 2013. She was developing on track until April 2014 when she was diagnosed with Infantile Spasms. By the grace of God, we were able to ## Events - [Giving Tuesday](https://www.scn2a.org/sfce_event/giving-tuesday/) - [US Halloween - Share Your Pix](https://www.scn2a.org/sfce_event/us-halloween-share-your-pix/) - [Research Roundtable](https://www.scn2a.org/sfce_event/research-roundtable/) - [ Board of Trustees Meeting](https://www.scn2a.org/sfce_event/board-of-trustees-meeting/) - [Int’l SCN2A Awareness Day](https://www.scn2a.org/sfce_event/intl-scn2a-awareness-day/) - [Last Chance for EOY Tax Deductible Donation](https://www.scn2a.org/sfce_event/last-chance-for-eoy-tax-deductible-donation/) - [AES](https://www.scn2a.org/sfce_event/aes/) - [Warrior Challenge](https://www.scn2a.org/sfce_event/warrior-challenge/) - [ Foundation 10th anniversary](https://www.scn2a.org/sfce_event/foundation-10th-anniversary/) - [Golf Tournament](https://www.scn2a.org/sfce_event/golf-tournament/) - [Warrior Wednesday](https://www.scn2a.org/sfce_event/warrior-wednesday/) - [SCN2A Family and Professional Conference](https://www.scn2a.org/sfce_event/scn2a-family-professional-conference/) ## Categories - [Blog](https://www.scn2a.org/category/blog/) - Your blog category ## Tags - [clinical](https://www.scn2a.org/tag/clinical/) - [clinical trial](https://www.scn2a.org/tag/clinical-trial/) - [clinical research](https://www.scn2a.org/tag/clinical-research/) - [participate in clinical trials](https://www.scn2a.org/tag/participate-in-clinical-trials/) - [scn2a clinical trials](https://www.scn2a.org/tag/scn2a-clinical-trials/) - [autism](https://www.scn2a.org/tag/autism/) - [causes of autism](https://www.scn2a.org/tag/causes-of-autism/) - [SCN2A autism](https://www.scn2a.org/tag/scn2a-autism/) - [autism treatments](https://www.scn2a.org/tag/autism-treatments/) - [ICD](https://www.scn2a.org/tag/icd/) - [ICD-10](https://www.scn2a.org/tag/icd-10/) - [ICD-10-CM](https://www.scn2a.org/tag/icd-10-cm/) - [QA10.0101](https://www.scn2a.org/tag/qa10-0101/) - [SCN2A code](https://www.scn2a.org/tag/scn2a-code/) ## Portfolio Categories - [Analytics](https://www.scn2a.org/portfolio-category/analytics/) - [Business](https://www.scn2a.org/portfolio-category/business/) - [Marketing](https://www.scn2a.org/portfolio-category/marketing/)