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# SLC6A1 Connect

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## Posts

- [News](https://slc6a1connect.org/news/)
- [2025 Science Symposium Videos are now available!](https://slc6a1connect.org/2026/03/12/2025-science-symposium-videos-are-now-available/) - The 2025 SLC6A1 Science Symposium was held in December, in Atlanta, Georgia. The event opened with our Founder, Amber Freed, announcing the first dosing of a human patient with SLC6A1 gene replacement therapy. Amber's talk was followed by several additional scientific presentations on the current state of SLC6A1 research. All of the Symposium Videos are
- [A New Step Forward: What Our EEG Study Is Teaching Us About SLC6A1 — And Where It’s Leading Next](https://slc6a1connect.org/2025/12/16/a-new-step-forward-what-our-eeg-study-is-teaching-us-about-slc6a1-and-where-its-leading-next/) - A New Step Forward: What Our EEG Study Is Teaching Us About SLC6A1 — And Where It’s Leading Next By Hamza Dahshi Grab a mug of coffee (or a sippy cup if you’re five) and let’s talk brainwaves, biomarkers, and what they could mean for every family living with SLC6A1-NDD. Before We Dive In: Why
- [2024 SLC6A1 Connect Science Symposium Videos Are Now Available](https://slc6a1connect.org/2025/04/02/2024-slc6a1-connect-science-symposium-videos-are-now-available/) - https://www.youtube.com/watch?v=VZ4rF8zrtqs&t=1s The 2024 SLC6A1 Connect Science Symposium was held on December 5th, 2024, the day before the annual American Epilepsy Society Conference in Los Angeles, California. Both SLC6A1 researchers and several SLC6A1 families attended the symposium. SLC6A1 Connect is pleased to release 23 videos of presentations from the symposium. These videos contain parent perspectives and scientific research
- [SLC6A1 Connect Proposes Public EEG Dataset For Diagnostic Research](https://slc6a1connect.org/2023/11/10/slc6a1-connect-proposes-public-eeg-dataset-for-diagnostic-research/) - Increasing diagnoses will help us cure SLC6A1 SLC6A1 and other genetic brain disorders are underdiagnosed due to barriers to genetic testing. Conditions that are considered ‘rare’ struggle to attract medical research. A great deal of medical research is funded by drug manufacturers seeking a market for their treatment products. Larger market opportunities attract more funding
- [Understanding Rare Diseases Beyond the Numbers](https://slc6a1connect.org/2025/02/27/understanding-rare-diseases-beyond-the-numbers/) - As we continue our exploration of rare diseases, Dr. Sam Patel examines their global impact, diagnostic challenges, and treatment gaps, offering insights for researchers, policymakers, and patient advocates working toward better solutions. Rare diseases may be individually uncommon, but together, they affect an estimated 300 million people worldwide (AllHealthPolicy.org, 2023). In the United States, approximately 25 to
- [SLC6A1 Connect and the Challenge of Rare Disease](https://slc6a1connect.org/2025/01/11/slc6a1-connect-and-the-challenge-of-rare-disease/) - As we continue our exploration of rare diseases, this article by Dr. Sam Patel, examines the challenges and opportunities in advancing research for rare conditions, providing actionable insights for researchers, policymakers, and patient advocates alike. For decades, rare disease patients and their families have been overlooked by traditional healthcare systems and pharmaceutical markets. Yet, patient advocacy
- [Understanding SLC6A1 Disorders: ASOs Screening Using iPSCs](https://slc6a1connect.org/2025/01/11/understanding-slc6a1-disorders-asos-screening-using-ipscs/) - As we continue our series on SLC6A1 gene disorders, this latest blog entry by Dr. Sam Patel explores how induced pluripotent stem cells (iPSCs) and their differentiated progeny are transforming drug screening platforms, with a focus on antisense oligonucleotides (ASOs) as a therapeutic strategy for genetic conditions like SLC6A1-related disorders Understanding Gene Editing and Correction
- [Understanding SLC6A1 Disorders: How iPSCs Are Helping Us Find New Treatments](https://slc6a1connect.org/2024/10/28/understanding-slc6a1-disorders-how-ipscs-are-helping-us-find-new-treatments/) - As we continue our series on SLC6A1 gene disorders, Dr. Sam Patel delves into the function and cellular localization of the SLC6A1 gene in this second blog post. SLC6A1-related disorders are rare genetic conditions affecting young children, leading to seizures, developmental delays, and other neurological challenges. These disorders stem from mutations in the SLC6A1 gene,
- [Induced Pluripotent Stem Cells Offer Research Path](https://slc6a1connect.org/2024/07/23/induced-pluripotent-stem-cells-offer-research-path/) - Please join SLC6A1 Connect in welcoming the following blog post from Sam Patel, PhD. Dr. Patel is a seasoned stem cell biologist with expertise in developing novel approaches to discover therapeutics for rare conditions, like SLC6A1 gene disorder. We are hopeful that reprogramming adult cells into Induced Pluripotent Stem Cells (IPSCs) will provide a steady source
- [Registration begins for the 2024 SLC6A1 Connect International Symposium and Family Conference](https://slc6a1connect.org/2024/08/30/registration-begins-for-the-2024-slc6a1-connect-international-symposium-and-family-conference/) - We hope you will join us for SLC6A1 Connect’s 2024 International Scientific Symposium and Family Conference to be held on December 5-6, 2024 at the Omni Hotel in Los Angeles, CA, prior to the American Epilepsy Society Annual Meeting. Our International Scientific Symposium will be a full day of clinical updates, scientific presentations and protocols,
- [2023 SLC6A1 Connect Symposium Science Track Videos Are Now Available](https://slc6a1connect.org/2024/01/28/2023-slc6a1-connect-symposium-science-track-videos-now-available/) - The 2023 SLC6A1 Connect Symposium was held on November 30th, 2023, the day before the annual American Epilepsy Society Conference. The events were held in Orlando, Florida. Both SLC6A1 researchers and several SLC6A1 families attended the symposium.SLC6A1 Connect is pleased to release 24 videos of presentations from the science track of the symposium. These videos contain parent
- [SLC6A1 Advocacy at REPO4EU in Stockholm](https://slc6a1connect.org/2023/11/22/slc6a1-advocacy-at-repo4eu-in-stockholm/) - Author: Lindsay Randall of Arthur's Quest, United Kingdom I was very excited to receive a link from our wonderful Portuguese mother Julia Ferrer, for an Orphan Drug Conference called REPO4EU. I had never heard of it before, but thought this title sounds like exactly what we are trying to do as a European network, and
- [Simons Searchlight Quarterly Report - October 2023](https://slc6a1connect.org/2023/11/01/simons-searchlight-quarterly-report-october-2023/) - Our friends at @SimonsSearchlight created a new quarterly report with updated information shared by our families and a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL). The CBCL includes questions about anxiety, sadness, somatic and emotional concerns, attention, social difficulties, and more. Simons Searchlight assigns the CBCL
- [SLC6A1 featured at the Orphan Drugs and Rare Diseases Conference in London](https://slc6a1connect.org/2023/10/14/slc6a1-featured-at-the-orphan-drugs-and-rare-diseases-conference-in-london/) - We are excited to share the following blog post from Lindsay Randall. Lindsay is the founder of Arthur’s Quest, our partner SLC6A1 community in the United Kingdom. On October 10th, my daughter's 4th Birthday, I attended the 4th Annual MarketsandMarkets Orphan Drugs and Rare Diseases Conference in London, as a speaker. My Husband Daniel, and
- [SLC6A1 Advocacy at ILAE 2023](https://slc6a1connect.org/2023/10/05/slc6a1-advocacy-at-ilae-2023/) - by Lindsay Dilley, founder of Arthur's Quest and SLC6A1 Connect UK After a disappointing rejection of our submission to the International League Against Epilepsy (ILAE) for a special interest session on SLC6A1, I was delighted to hear that the advocates were going to attend anyway, and that Amber was pushing to be included somehow. As
- [Simons Searchlight Quarterly Report - August 2023](https://slc6a1connect.org/2023/08/29/simons-searchlight-quarterly-report-august-2023/) - httpscdn.simonssearchlight.orgwp-contentuploads20230814121452SLC6A1-23Q2Download Our friends at @SimonsSearchlight created a new quarterly report with updated information shared by our families and feature a special spotlight on developmental growth charts, using insights based on the Vineland Adaptive Behavior Scales (Vineland-3) data, which show skills at different ages. Caregivers share how their loved ones with the genetic condition progress in communication,
- [Press Release](https://slc6a1connect.org/2018/11/19/november-2018/) - FOR IMMEDIATE RELEASE Contact: Amber Freed, SLC6A1 Connect Email: afreed@slc6a1connect.org SLC6A1 Connect Earns GuideStar Platinum Seal for 2018 Potential funders can see that SLC6A1 Connect is Committed to Highest Level of Transparency DENVER, CO, October 2018 – SLC6A1 Connect is proud to announce that we have earned the GuideStar Platinum Seal of Transparency for 2018. This is the
- [Press Release](https://slc6a1connect.org/2019/06/12/press-release-2/) - FOR IMMEDIATE RELEASE Contact: Amber Freed, SLC6A1 Connect Email: afreed@slc6a1connect.org SLC6A1 Connect Founder and CEO Receives RARE Champion of Hope Award Nomination The Global Genes RARE Champion of Hope Awards honor and recognize true champions for rare disease. DENVER, CO, May 2018 – SLC6A1 Connect is proud to announce that our founder and CEO, Amber Freed, has been
- [Press Release](https://slc6a1connect.org/2018/10/15/press-release/) - FOR IMMEDIATE RELEASE Contact: Amber Freed, SLC6A1 Connect Email: afreed@slc6a1connect.org SLC6A1 Connect Partners with Dr. Steven Gray Pre-clinical lab work currently underway on gene replacement therapy to treat SLC6A1 DENVER, CO, October 2018 - SLC6A1 Connect is proud to announce a partnership with Dr. Steven Gray from UT Southwestern to develop a gene replacement therapy
- [We Are Rare But We Are There!](https://slc6a1connect.org/2023/05/24/we-are-rare-but-we-are-there/) - Last July Amber asked me to help launch the Ciitizen partnership with SLC6A1 to create a new digital Natural History Study. Ciitizen was founded with a mission to let patients control their own health records to aid in their own healthcare and to advance research. They developed the Rare Patient Network, which is a collaboration
- [#ShineYourSearchlight Step 6 - Update Simons Searchlight Yearly](https://slc6a1connect.org/2023/05/03/shineyoursearchlight-step-6-update-simons-searchlight-yearly/) - #ShineYourSearchlight ✨ Continue your @SimonsSearchlight journey and help our community grow! Your involvement can lead to important insights so current and future families can find hope for their family. The more data we collect over time, the better picture we will have of what it means to have SLC6A1. Go to your dashboard to finish
- [#ShineYourSearchlight Step 5 - Provide an Optional Blood Sample](https://slc6a1connect.org/2023/04/05/shineyoursearchlight-step-5-provide-an-optional-blood-sample/) - #ShineYourSearchlight ✨ Do you live in the United States? Make sure your genetic variant is part of the @SimonsSearchlight biorepository! It is important to represent yourself and have researchers looking at YOUR specific information! Your blood sample can help in creating future therapies and treatments. Contact coordinator@simonssearchlight.org to learn more. #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign
- [How Your Donations Multiply](https://slc6a1connect.org/2023/04/01/how-your-donations-multiply/) - Why do you see so many fundraising emails and posts for SLC6A1 Connect? Where does all this money go? I have wondered this since first talking with SLC6A1 Connect CEO and Founder, Amber Freed, after my daughter’s diagnosis in early November 2020. Amber outlined two parallel tracks the organization was following: Research and Fundraising. I
- [#ShineYourSearchlight Step 4 - Complete Surveys](https://slc6a1connect.org/2023/03/22/shineyoursearchlight-step-4-complete-surveys/) - #ShineYourSearchlight ✨ Have you completed @SimonsSearchlight surveys? They collect information on behavior, communication, motor skills and more. Long-term participation and completing surveys are critically important to the success of research into SLC6A1. Go to your dashboard to complete your surveys: bit.ly/Simons_Searchlight_Dashboard #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign
- [#ShineYourSearchlight Step 3 - Share Your Medical History with Simons Searchlight](https://slc6a1connect.org/2023/03/10/shineyoursearchlight-step-3-share-your-medical-history-with-simons-searchlight/) - #ShineYourSearchlight ✨ Share your medical history with @SimonsSearchlight! This will help you and researchers get a more accurate picture of what it means to have SLC6A1 over time. All medical history information is shared by completing a survey with the option to speak to a genetic counselor. Go to your dashboard: bit.ly/Simons_Searchlight_Dashboard #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign
- [#ShineYourSearchlight Step 2 - Upload Your Genetic Lab Report](https://slc6a1connect.org/2023/03/10/shineyoursearchlight-step-2-upload-your-genetic-lab-report/) - #ShineYourSearchlight ✨ Have you uploaded your genetic lab report to your @SimonsSearchlight dashboard? Researchers need specific details in your genetic lab report to learn more about SLC6A1. No genetic lab report? Their team will do the work to find it for you! Go to your dashboard: bit.ly/Simons_Searchlight_Dashboard #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign
- [#ShineYourSearchlight - Join Simons Searchlight](https://slc6a1connect.org/2023/02/08/shineyoursearchlight-join-simons-searchlight/) - #ShineYourSearchlight✨ Not enough is known about SLC6A1. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to SimonsSearchlight.org to sign up for FREE! #SLC6A1
- [Rare Disease Week: Meet the SLC6A1 kids](https://slc6a1connect.org/2023/02/28/rare-disease-week-meet-the-slc6a1-kids/) - Dear Family, Friends and Supporters of SLC6A1 Connect, As Rare Disease Day 2023 is upon us, we are still fighting every day for our children to have the best chance they can have at life. We didn’t ask or hope to be here, again. We don’t want to be begging for answers, for money, for
- [Upcoming Documentary: Too Rare to Care](https://slc6a1connect.org/2023/02/21/upcoming-documentary-too-rare-to-care/) - Dear Family, Friends and Supporters of SLC6A1 Connect: In honor of Rare Disease Day (Week?) 2023, we are sharing this trailer for a new documentary, “Too Rare to Care,” by the fierce Rare Disease mother and talented producer, Lainey Moseley. The documentary features our own superhero mom Amber Freed, who has dedicated her entire life
- [Rare Disease Week](https://slc6a1connect.org/2023/02/25/rare-disease-week/) - Hello again! In continuation of Rare Disease Week, we want to talk specifically about the rare disease that affects our kids and families, SLC6A1 Epileptic Encephalopathy. SLC6A1 epileptic encephalopathy is a rare neurological condition in children that causes seizures, severe movement and speech disorders, and intellectual disability. As rare disease parents, we simply cannot accept that nothing can be
- [Gratitude](https://slc6a1connect.org/2021/01/03/gratitude/) - The start of 2021 is beginning with nothing but positivity, joy and a strong belief that miracles happen every day. Rather than list a slew of resolutions that may or may not be feasible (as COVID taught us), I have decided to start the year with simple gratitude. I have found a large amount of
- [Sorrow](https://slc6a1connect.org/2021/02/11/sorrow/) - Our small, closely knit, rare disease community lost one of our heroes. I have contemplated sharing this information because frankly, it makes it hard to breathe. When I saw the other mother’s post, my mind nearly imploded with grief and fear. I tried to push it out of mind so I could lead morning meetings
- [The Girl That Changed Everything](https://slc6a1connect.org/2021/02/15/the-girl-that-changed-everything/) - Mila was born 10 years ago in Boulder, Colorado to an adoring mother named Julia Vitarello. Beautiful and energetic from the start, Mila was a little girl whose personality drew others in naturally. Even as a three-year-old, she used her captivating smile, repertoire of Frozen songs and her soft touch to charm an entire flight
- [Celebrating Like it's 2017](https://slc6a1connect.org/2021/03/27/celebrating-like-its-2017/) - I was exactly 34 weeks pregnant, and it was the day of my maternity photoshoot. Our sweet photographer said 34 weeks is the perfect time because women are glowing, but that is not the case when you are 5’2, 100 pounds and carrying twins. I could barely walk, Mark put on my shoes and I
- [A Big Win](https://slc6a1connect.org/2021/04/22/a-big-win/) - We’re so excited to share a big win for our community. This is happening because of our selfless donors that walk alongside of us every single day. In thanks to our support, SLC6A1 Connect is funding a clinical trial to repurpose an FDA approved drug named Ravicti made by Horizon Therapeutics for SLC6A1. The trial
- [2022 Symposium Videos are now available](https://slc6a1connect.org/2023/02/03/2022-symposium-videos-are-now-available/) - Hello everyone, In December 2022, SLC6A1 Connect hosted a symposium on the latest trends and research into SLC6A1 disorders. The event preceded the annual American Epilepsy Society (AES) Conference. Both events occurred in Nashville, Tennessee. SLC6A1 researchers and families of SLC6A1 patients attended the symposium. As a father of an SLC6A1 patient, Katrina, I was
- [Maxwell, Riley, and I had a special spring break!](https://slc6a1connect.org/2022/03/26/maxwell-riley-and-i-had-a-special-spring-break/) - SLC6A1 families from Kansas City, Iowa, New York City, Belgium, and the Netherlands all headed to Dallas to visit us! We had some belly laughs and created unforgettable memories. We all share a bond only understood by fellow parents and each other’s presence is comforting. The strength, perseverance, and resilience of each family is remarkable.
- [The Honorable Congressman Van Taylor and Silly Riley](https://slc6a1connect.org/2022/01/08/the-honorable-congressman-van-taylor-and-silly-riley/) - Today was too good not to share!!! I had a meeting with my congressional representative, the honorable Van Taylor to discuss rare disease advocacy at the state and national level. Rare diseases are considered too rare to care by pharma, government, and even some medical professionals. Our lofty aspirations require the support of an army.
- [Amber's Birthday 🎂](https://slc6a1connect.org/2021/10/05/ambers-birthday-🎂/) - My birthday was Saturday which in rare disease world equates to the obligatory fundraiser. This year, I am celebrating a success along with our faithful donors that have made this moment possible. Last December, many gene therapy projects were mostly halted due to social distancing measures. Days continued to pass for children that do not
- [Merry Christmas](https://slc6a1connect.org/2020/12/23/merry-christmas-2/) - We all need a little hope as we close out this incredibly unique year. 2020 brought a lot of pain and setbacks to our fight for a cure, but it did not squash our hope and determination to keep fighting for these innocent kids. This year also brought out a lot of love and support
- [For the Birds!](https://slc6a1connect.org/2020/12/08/for-the-birds/)
- [A Birthday to Remember](https://slc6a1connect.org/2020/03/31/a-birthday-to-remember/) - I had planned a massive birthday party for the twins with a music class, Peppa the Pig appearance, lots of decorations and of course, good food. Unfortunately, COVID19 reset all expectations and plans for the world. At Some Point You Just Have to Let Go of What You Thought Should Happen and Live in What
- [Maxwell's Favorite Thing - Riley](https://slc6a1connect.org/2020/07/01/maxwells-favorite-thing-riley/) - Maxwell was newly diagnosed with SLC6A1 and no doctor knew anything about it. More disheartening, no doctor wanted to learn. I was feverishly reading anything I could get my hands on that could help my innocent little baby. I was full of ideas and hope for an appointment with a neurologist, eagerly sitting down with pages
- [Striving for Mediocrity](https://slc6a1connect.org/2020/04/19/striving-for-mediocrity/) - Learn to be Thankful for What you Already Have, While you Pursue all that You Want - Jim Rohn A month ago, I sat in the waiting room as Maxwell finished up his horse therapy session. Gone are the days where his episodes of jerky, uncontrollable movements could be confused with a developing baby. Gone
- [The Greater Good](https://slc6a1connect.org/2020/10/03/the-greater-good/) - 2020 has been nothing short of a dumpster fire of a year. I kept joking that Biblical locusts were about to descend upon the world. The joke was pretty funny until videos of locusts taking over the Middle East interrupted my nightly celebrity news on Page Six. But what if everything we experience in
- [Today was a Good Day](https://slc6a1connect.org/2019/07/13/today-was-a-good-day/) - A Big Win For Maxwell This week marked a major milestone in our fight against SLC6A1. Our dedicated team of scientists produced the gene therapy treatment and are actively treating mice. If all goes as hoped, the mice will show improvement and this data will go before the Federal Drug Administration to approve the therapy
- [No Research, No Treatment, No Hope](https://slc6a1connect.org/2020/09/10/no-research-no-treatment-no-hope/) - Only 4% of Federal Research Funding is Dedicated to Pediatric Cancer and the 5-year Survival Rate is 2%. Rare Pediatric Diseases are Mostly a Death Sentence for a Life that Never Began. Today is a terrible anniversary for my dear friends, Chris & Chantal Pittman. I flew to Wimberley, Texas to be with Chris and
- [Golf Tournament](https://slc6a1connect.org/2020/06/04/golf-tournament/) - The 1st Inaugural Milestones for Maxwell Golf Tournament will be held on August 17th, 2020 at Fossil Trace Golf Course in Golden, Colorado. We have another EXCITING announcement! The fabulous and talented Denise Plante from The Bull 106.7 will be judging our #MulletsforMaxwell contest! People may enter the contest digitally and the Grand Prize will
- [Home Cuts for A Cure](https://slc6a1connect.org/2020/04/24/home-cuts-for-a-cure/) - Who Needs a Haircut!?! Especially a Home Cut!?! We have decided to have some fun with our hair while raising awareness for SLC6A1. I have never laughed so hard in my life with #HomeCutsForACure. Exhibit A: Mark Freed with a Mullet. Everyone that knows Mark well would barely recognize him without short hair and a
- [Exciting Developments](https://slc6a1connect.org/2018/08/22/exciting-developments/) - This summer has been a whirlwind between Maxwell's diagnosis, the creation of SLC6A1 Connect, and many exciting developments in the way of research. Amber has been hard at work setting up the organization, campaigning for funding and donations, and talking to researchers. We will share all of the exciting developments with you as details are
- [Miracles Take Hard Work](https://slc6a1connect.org/2018/10/19/miracles-take-hard-work/) - We can all fondly remember some of the best moments of our life, like a wedding, graduation, or the birth of a child. I will never forget the feeling of meeting Maxwell and Riley for the first time. I didn't know a human heart was capable of that much love. At that moment, my entire
- [The First SLC6A1 Symposium](https://slc6a1connect.org/2018/12/15/the-first-slc6a1-symposium/) - We put on the first symposium for Maxwell’s disease in late November and it was an overwhelming success. The many late nights of planning all came to fruition in the best way possible! The experience of having 50 brilliant scientists, from all over the world, collaborating on the cure for SLC6A1 was entirely surreal. Each
- [Merry Christmas](https://slc6a1connect.org/2018/12/25/merry-christmas/) - On this Christmas Day, we are reflecting on our many blessings. We are more than blessed. We have beautiful twins. We have more good days than bad days. We have hope. We have a faith stronger than oak. Merry Christmas! We hope everyone is having a wonderful day filled with joy. Maxwell and Riley's mom
- [New Year's Obsession](https://slc6a1connect.org/2019/01/01/new-years-obsession/) - My hope for 2019 isn’t necessarily a hope – it is an obsession to cure my son’s neurological disease. I reflect back to my family this time last year. We knew Maxwell was developmentally behind his twin sister Riley but we still clung to the dimming chance that he was just a late bloomer. Test
- [There's No Place Like Home](https://slc6a1connect.org/2019/01/27/theres-no-place-like-home/) - I moved to Pueblo, Colorado when I was 13 years old and eventually graduated as valedictorian of South High School. Like many college-bound youths, I traded the familiarity of home for someplace new and exciting--in my case, Denver--but I've never forgotten my years in Pueblo. When I go see my mom, who still lives there,
- [Happy Valentine's Day](https://slc6a1connect.org/2019/02/16/happy-valentines-day/) - Maxwell and Riley celebrated Valentine's Day together. They enjoyed a culinary adventure of chocolate chip pancakes with fresh squeezed orange juice over candlelight high chairs. The best friends enjoyed each other's company. Could there be anything more sweet than this!?! Happy Valentine's Day
- [Charity Gala - March 8th, 2019](https://slc6a1connect.org/2019/02/17/charity-gala-march-8th-2019/) - Maxwell is surrounded by guardian angels and his army grows daily. One of his guardian angels is a woman named Laura Leavy with Thrive Mortgage. Thrive Mortgage & Legend Title host an annual business mixer & client appreciation charity gala. Laura Leavy selected our non-profit to be the recipient of the gala this year! We
- [9News Loves Maxwell](https://slc6a1connect.org/2019/02/22/9news-loves-maxwell/) - Kim Christiansen with 9News graciously told our story on the Denver news tonight. Our family anxiously gathered around the TV waiting for our big debut. Kim covered our story with the care and understanding of a fellow mother, and our comfort during the interview is evident in the finished product. You can tell Mark and
- [Maxwell's Gala Recap](https://slc6a1connect.org/2019/03/11/maxwells-gala-recap/) - Thrive Mortgage hosted a gala Friday evening to benefit Maxwell and the night was absolutely incredible. Guests arrived to a #MilestonesForMaxwell red carpet before heading into the beautiful event. The event was so much fun with so many games! The silent auction featured artwork from Lindsay Jane Ternes Fine Art and unique sports memorabilia. The
- [60 Minutes Episode on Gene Therapy](https://slc6a1connect.org/2019/03/13/60-minutes-episode-on-gene-therapy/) - 60 Minutes aired a story about gene replacement therapy CURING sickle cell anemia. The story highlighted a woman experiencing pain as “very sharp, like stabbing, almost feels like bone-crushing pain.” She was barely capable of physical activity, spent weeks a year hospitalized and didn’t know if she would live into her 30’s. Just 9 months
- [Happy Birthday Maxwell & Riley](https://slc6a1connect.org/2019/03/25/happy-birthday-maxwell-riley/) - The Twins Turn Two on the 27th! We celebrated with a special celebration with all of their friends at Great Play in Cherry Creek over the weekend. Maxwell and Riley were dressed as cowboys with matching vests, boots and sparkly hats. Last year, I spent months planning every detail of the twin’s first birthday.
- [Fun Events & Happenings for #MilestonesforMaxwell](https://slc6a1connect.org/2019/04/08/fun-events-happenings-for-milestonesformaxwell/) - First a fundraising update - we have raised over $200,000 with over 1,300 contributors since we started our campaign four months ago. Thank you! Thank you! Thank you! Are you in Denver, the Golden Area or Pueblo and would like to support our efforts to cure his rare neurological disease? Maxwell Norman will be making
- [Ode to Riley James Freed](https://slc6a1connect.org/2019/05/02/ode-to-riley-james-freed/) - The siblings of kiddos with complex health circumstances can get lost in the shuffle of the attention. Riley James Freed is the unsung hero of our household. She handles every circumstance with a grace most adults can’t comprehend and has endless empathy for her twin brother. It is a daily struggle to make sure this
- [Mother's Day](https://slc6a1connect.org/2019/05/12/mothers-day/) - “God could not be everywhere, and therefore he made mothers.” -Rudyard Kipling When I woke up this morning, I couldn't help reflecting on the past few years. Mark and I wanted children so badly that we suffered through 2 years of IVF, but nothing could have prepared me for the overwhelming joy I felt
- [2019 Global Gene Rare Champion of Hope](https://slc6a1connect.org/2019/05/30/2019-global-gene-rare-champion-of-hope/) - Each year, Global Genes, a leading global rare disease patient advocacy organization, asks the community to nominate those deserving of recognition for their extraordinary efforts in rare disease. Nominations are accepted in the areas of advocacy, medical care and treatment, and science and technology. I was nominated this year to receive the reward! I am
- [Janus Charity Challenge](https://slc6a1connect.org/2019/06/07/janus-charity-challenge/) - I spent my career in equity analysis and made some very dear friends along the way, most recently at Janus Henderson Investors. When doctors began warning us that Maxwell was not well, I left my career in a frazzled, frantic state. I tried to be strong the day I resigned from Janus, but I simply
- [The HuffPost](https://slc6a1connect.org/2019/06/11/the-huffpost/) - The Huffington Post recently devoted time with my family to fully understand our daily struggles as we battle a rare disease to save Maxwell. The journalist and photographer deeply cared about Maxwell and felt our sense of urgency as we frantically race to develop a gene replacement therapy for Maxwell before it is too
- [Update to HuffPost](https://slc6a1connect.org/2019/06/11/update-to-huffpost/) - The link to the article didn't go well for some folks...click here: Huffington Post Article
- [Most People are Good](https://slc6a1connect.org/2019/08/04/most-people-are-good/) - This has been a sad week for our nation, so now is the perfect time to focus on the beauty that can still be found in this world. In my household, we are obsessed with Luke Bryan’s music, and one of my favorite songs is called, “I believe most People are Good.” My blog today is highlighting
- [Some Patients’ Best Hope for a Cure Is to Develop It Themselves](https://slc6a1connect.org/2019/08/30/some-patients-best-hope-for-a-cure-is-to-develop-it-themselves/) - The dreaded day we received the news that Maxwell was diagnosed with SLC6A1 was the worst day of my life. Mark and I sat at Children’s Hospital and listened to a never-ending list of things Maxwell would probably never do. I wanted to cover my ears and sing so I couldn’t hear the doctor’s words.
- [A Day of Celebration](https://slc6a1connect.org/2019/10/02/a-day-of-celebration/) - The rare disease world is filled with many high-highs and low-lows with some days being much better than others. I cling to the happy days when Maxwell learns a new skill, scientists reach a milestone achievement or something wonderfully unexpected happens. Today is one of those happy days... a day of sheer celebration we will
- [Standing on the Shoulders of Giants](https://slc6a1connect.org/2019/10/17/standing-on-the-shoulders-of-giants/) - An adorable little girl named Mila Makovec lives just a half hour away from us in Boulder, Colorado. Mila has giant brown eyes, loves chocolate ice cream and singing along to Frozen. Mila is the type of little girl you would see in a grocery store and smile watching her select bananas with excitement. In
- [The Daily Blast Live](https://slc6a1connect.org/2019/10/27/the-daily-blast-live/) - I recently shared my story with the national talk show, The Daily Blast Live. I have loved the show for a very long time and actually followed two of their hosts, Sam Schacher and Jeff Schroder on Instagram forever. I would recognize their families on the street and probably ask about their latest pumpkin patch
- [Matching Grant](https://slc6a1connect.org/2019/11/03/matching-grant/) - A Generous Donor is Matching Every Dollar Raised for October & November! We have the most loyal friends that want to see Maxwell & every other affected child cured of SLC6A1. A generous donor is matching up to $50,000 raised during the months of October and November. In the great words of Bonjovi, We are
- [The Mouse Has Landed](https://slc6a1connect.org/2019/12/12/the-mouse-has-landed/) - I will literally do anything to help Maxwell even if it requires smuggling mice internationally. Before I even dive into this blog post, BuzzFeed has done an incredible job telling my story – from developing a gene therapy to creating mutant mice in China – to help cure SLC6A1. If anyone would like to help,
- [Merry Christmas from the Freed Family!](https://slc6a1connect.org/2019/12/26/merry-christmas-from-the-freed-family/) - Maxwell and Riley knew that Santa Clause was coming to town on Christmas Eve and were so excited! Well, they were * kind of * excited. They did not enjoy meeting Santa at the mall as you can see. Riley said she would run away if she ever saw Santa again. Cherry Creek mall paused
- [A New Year](https://slc6a1connect.org/2020/01/02/a-new-year/) - Living with a Rare Disease is like Walking a Tightrope over the Grand Canyon. Your gaze must stay focused forward on achieving treatment. You can never look backward or down because you will stumble and fall. In 2019, we stepped out in the midst of our most private heartache to make our story very public. It
- [JP Morgan Chase](https://slc6a1connect.org/2020/01/20/jp-morgan-chase/) - JP Morgan hosts the world’s largest healthcare conference every year in San Francisco. If you want to learn about the latest innovation and advances in biotech, the conference is the place to be. Not only does it boast world renowned talent, it is also a source of hope for patients. Miracles are underway in the
- [Upcoming Events - Save the Date](https://slc6a1connect.org/2020/01/29/upcoming-events-save-the-date/) - Lots of Fun Things! SLC6A1 Connect will be hosting the First Annual Golf Tournament at Fossil Trace Golf Course in Denver, CO. The course is truly beautiful and there will be a lot of fun surprises. If you are interested in participating or sponsoring, please let me know. Milestones for Maxwell has also been chosen
- [A First Birthday to Remember](https://slc6a1connect.org/2019/01/06/a-first-birthday-to-remember/) - In lieu of gifts, she preferred donations to help Maxwell.

## Pages

- [Homepage](https://slc6a1connect.org/)
- [Ella](https://slc6a1connect.org/ella/) - NAME: Ella CURRENT AGE: 17 HOME TOWN & STATE: Seattle, WA DIAGNOSIS DATE: December 2017 PARENTS: Sarah & Jayson SIBLINGS: Maya (19) What it felt like when we learned our child has SLC6A1? We had been searching for the cause of Ella's epilepsy and global delay since she was a baby and it was incredible
- [Ella](https://slc6a1connect.org/ella-old/) - NAME: Ella CURRENT AGE: 17 HOME TOWN & STATE: Seattle, WA DIAGNOSIS DATE: December 2017 PARENTS: Sarah & Jayson SIBLINGS: Maya (19) What it felt like when we learned our child has SLC6A1? We had been searching for the cause of Ella’s epilepsy and global delay since she was a baby and it was incredible to
- [Our Kids](https://slc6a1connect.org/our-kids/) - Our Kids Depend On Us – All Of Us SLC6A1 is a genetic disease so rare that it does not have a name – yet. But SLC6A1 has a face –the face of our children. Meet the children whose lives you can help save.
- [2025 SLC6A1 Connect Symposium](https://slc6a1connect.org/2025-slc6a1-connect-symposium/) - The 2025 SLC6A1 Connect Symposium was held on December 4th, just before the annual American Epilepsy Society Conference, in Atlanta, Georgia. The symposium was attended by SLC6A1 researchers and families. Opening and Gene Therapy Announcement, Amber Freed, Founder, SLC6A1 Connect Patient Perspective - Riley's Experience Speaker: Will Cheesebro Institution: SLC6A1 Connect Video A Targeted Approach for
- [2024 SLC6A1 Connect Symposium](https://slc6a1connect.org/2024-slc6a1-connect-symposium/) - The 2024 SLC6A1 Connect Symposium was held on December 5th, just before the annual American Epilepsy Society Conference. The symposium was held in Los Angeles, California. Both SLC6A1 researchers and several SLC6A1 families attended the symposium. Symposium Opening, Amber Freed, Founder SLC6A1 Connect https://youtu.be/VZ4rF8zrtqs Patient Perspective - A UK Mother's Journey Speaker: Lindsay Randall Institution: SLC6A1 Connect
- [SLC6A1 Patient Registries](https://slc6a1connect.org/registry/) - Simons Searchlight is a research registry for SLC6A1 that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders. By collecting detailed information and blood samples, Simons Searchlight takes a deep dive into these disorders. They share the information and blood samples with leading geneticists and scientists around the
- [Contact](https://slc6a1connect.org/contact/) - Contact SLC6A1 Connect We are here to support families, collaborate with researchers, and partner with individuals and organizations committed to advancing the understanding and treatment of SLC6A1-related disorders. Whether you have questions, need resources, or want to get involved, our team is ready to help. Family Support & Resources If you are a newly
- [Charlie Fry](https://slc6a1connect.org/charlie-fry/) - Charlie Fry NAME: Charlie CURRENT AGE: 7 HOME TOWN & STATE: Kansas City, MO DIAGNOSIS DATE: August 2019 PARENTS: Nate and Kim Fry SIBLINGS: Addie What did it feel like when we learned our child has SLC6A1? Devastation. It was the scariest feeling in the world to look into the eyes of a doctor who
- [Donate Here](https://slc6a1connect.org/donate-here/) - Donate Here! Help Us Fund a Cure for SLC6A1 Every day, children living with SLC6A1 face seizures, developmental challenges, and obstacles that most of us cannot imagine. At SLC6A1 Connect, we are a nonprofit made up of parents racing against time to find a cure. Your donation directly supports groundbreaking gene therapy research, preclinical studies,
- [slc6a1-connect-2025-international-scientific-symposium-and-family-conference-bb](https://slc6a1connect.org/slc6a1-connect-2025-international-scientific-symposium-and-family-conference-bb/) - SLC6A1 Connect 2025 International Scientific Symposium and Family Conference December 4 - 5, 2025 Georgia Tech Hotel and Conference Center800 Spring Street NWAtlanta, Georgia, 30308 USA Scientific Registration Family Registration Book Your Room Join us to find a cure We hope you will join us for SLC6A1 Connect's 2025 International Scientific Symposium and Family Conference
- [Who We Are](https://slc6a1connect.org/who-we-are/) - “Alone we can do so little, together we can do so much.” – Helen Keller Our Mission SLC6A1 Connect is a parent-led patient advocacy organization dedicated to improving the lives of children and families affected by SLC6A1-related disorders. We raise awareness and fund pioneering scientific research so that every person with SLC6A1 can access effective treatments and,
- [Who We Are](https://slc6a1connect.org/who-we-are-2/) - Who We Are “Alone we can do so little, together we can do so much.”– Helen Keller Our Mission SLC6A1 Connect is a parent-led patient advocacy organization dedicated to improving the lives of children and families affected by SLC6A1-related disorders. We raise awareness and fund pioneering scientific research so that every person with SLC6A1 can access effective
- [Our Founder](https://slc6a1connect.org/our-founder/) - Amber N. Freed is Fighting Like a Mother to cure SLC6A1. Ms. Freed serves as the Founder and CEO of SLC6A1 Connect. She is the proud mother of adorable twins, Miss Riley James and Mr. Maxwell Norman. Maxwell was just 18 months old when she received his devastating diagnosis of SLC6A1, a rare neurological disease.
- [Our Vice President](https://slc6a1connect.org/our-vice-president/) - Kim Fry, Vice President of SLC6A1 Connect joined our leadership team in late 2019 after her son, Charles Fry was diagnosed with SLC6A1. Ms. Fry brings more than 15 years of marketing and event expertise in both higher education and technology industries, currently serving as the Director of Marketing and Events at ProActive Solutions,
- [test](https://slc6a1connect.org/test-2/)
- [Support](https://slc6a1connect.org/support/) - SLC6A1 Support Financial and Estate Planning for Children With Disabilities - https://www.moneygeek.com/financial-planning/resources-for-parents-of-children-with-special-needs/ Travel Guide for Parents of Children with Disabilities - https://www.moneygeek.com/insurance/auto/resources/driving-a-child-with-special-needs/ Support for Families with Children Diagnosed with Chronic or Terminal Illness - https://www.moneygeek.com/financial-planning/childhood-chronic-terminal-illness/ Rare Disease Support Join the Rare Disease Educational Support Program. The Rare Disease Education Support Program is designed to offer rare disease
- [Annistyn](https://slc6a1connect.org/annistyn/) - Charlie Fry CHILDS NAME: Annistyn CURRENT AGE: 2 years old HOMETOWN & STATE: Abilene, TX DIAGNOSIS DATE: March 2021 PARENTS: Sheryl & Elen Thorn SIBLINGS: Avaleigh What it felt like when we learned our child has SLC6A1? Our oldest daughter, Avaleigh, was diagnosed with SLC6A1 the year prior which stunned us beyond words and threw us
- [Katrina](https://slc6a1connect.org/katrina/) - Charlie Fry NAME: Katrina "Kat" Marie CURRENT AGE: 17 HOME TOWN & STATE: Scotts Valley, CA DIAGNOSIS DATE: November 2020 PARENTS: Kevin and Sandra SIBLINGS: Conor and Kelly What it felt like when we learned our child has SLC6A1? We felt relief and excitement; for 11 years we struggled with our daughter's "autism". We tried
- [Adonaï](https://slc6a1connect.org/adonai/) - Charlie Fry Nom de l'enfant: Adonaï Âge actuel: 2 Ville natale et état: Realmont, France Date du diagnostic: Août 2024 Parents: Sandy et Dylan Frères et sœurs: Kingston et Djeyllie Comment as-tu su que quelque chose n'allait pas ? Nous avons des doute que quelque chose n'allait pas car Adonaï pleuré beaucoup et elle fesait
- [Lennon](https://slc6a1connect.org/lennon/) - Charlie Fry CHILD'S NAME: Lennon CURRENT AGE: 8 HOMETOWN & STATE: Eau Claire, Wisconsin DIAGNOSIS DATE: April 2021 PARENTS: Breana and Neil SIBLINGS: Abram and Vera What did it feel like when we learned that Lennon had SLC6A1? We have a unique story learning about her diagnosis. She was officially diagnosed in 2021 but we
- [Everett](https://slc6a1connect.org/everett/) - Charlie Fry CHILDS NAME: Everett CURRENT AGE: 11 HOMETOWN & STATE: Manhattan Beach, CA DIAGNOSIS DATE: February 2022 PARENTS: Brett and Jenny SIBLINGS: Anderson and Sami How did you know something was wrong? Everett kept falling out of the blue and would shake for a few seconds after each fall, then get back up and
- [Haley](https://slc6a1connect.org/haley/) - Charlie Fry CHILDS NAME: Haley CURRENT AGE: 4 HOMETOWN & STATE: Noblesville, IN DIAGNOSIS DATE: October 2022 PARENTS: Matthew and Emily SIBLINGS: Wesley What did it feel like when we learned our child has SLC6A1? It was a combination of relief, fear, concern, and determination. The hardest part of being a SLC6A1 family? Not having
- [Madeline](https://slc6a1connect.org/madeline/) - Charlie Fry CHILDS NAME: Madeline CURRENT AGE: 3 HOMETOWN & STATE: Newport News, Virginia DIAGNOSIS DATE: July 2022 PARENTS: Sarah Wells & Richard SIBLINGS: William & Charlie What did it feel like when we learned our child has SLC6A1? We were overwhelmed with sadness and instantly hit with the gravity and complexity of the disease.
- [Aubrey](https://slc6a1connect.org/aubrey/) - Charlie Fry CHILDS NAME: Aubrey CURRENT AGE: 6 HOMETOWN & STATE: Freedom, WI DIAGNOSIS DATE: May 2022 PARENTS: Justin and Erika SIBLINGS: None How did you know something was wrong? Aubrey started having hundreds of seizures a day at 3 1/2 years old. With the seizures came regression in areas of cognition, movement, coordination and
- [Reilly](https://slc6a1connect.org/reilly/) - Charlie Fry NAME: Reilly CURRENT AGE: 2 HOME TOWN & STATE: Steamboat Springs, CO DIAGNOSIS DATE: February 2022 PARENTS: Will and Becca SIBLINGS: Mackenzie What it felt like when we learned our child has SLC6A1? We felt mixed emotions, as we had been searching for answers for Reilly since she was 6 months old. When
- [Coco](https://slc6a1connect.org/coco/) - Charlie Fry NAME: Coralynn Paige (Coco) CURRENT AGE: 5 HOME TOWN & STATE: St. Michael, MN DIAGNOSIS DATE: April 2022 PARENTS: Lindsay and Cody SIBLINGS: Milo (3) What did it feel like when we learned our child has SLC6A1? We have experienced a wide variety of emotions surrounding Coralynn's SLC6A1 diagnosis. Overall, we are glad
- [Roos](https://slc6a1connect.org/roos/) - Charlie Fry NAME: Roos CURRENT AGE: 14 HOME TOWN & STATE: Utrecht, Netherlands DIAGNOSIS DATE: February 2017 PARENTS: Joost and Rina SIBLINGS: Isa What did it feel like when we learned our child has SLC6A1? When Roos was 6 months old, we noticed that she didn't progress the same as other babies- she walked at
- [Harper](https://slc6a1connect.org/harper/) - Charlie Fry NAME: Harper CURRENT AGE: 3 HOME TOWN & STATE: Sun Prairie, WI DIAGNOSIS DATE: December 2020 PARENTS: Lindsay and Steve SIBLINGS: Owen (6) What it felt like when we learned our child has SLC6A1? There was some relief that we finally had an answer after 2 years of relentless searching. However, we then
- [Suus](https://slc6a1connect.org/suus/) - Charlie Fry NAME: Suus CURRENT AGE: 6 HOME TOWN & STATE: Mander, Overijssel, The Netherlands DIAGNOSIS DATE: June 2017 PARENTS: Sander and Fleur SIBLINGS: Lieve (11) and Duuk (9) What it felt like when we learned our child has SLC6A1? It was a long journey to find out that Suus had SLC6A1. The first problems
- [Malia](https://slc6a1connect.org/malia/) - Charlie Fry NAME: Malia Kate Tingley CURRENT AGE: 5 HOME TOWN & STATE: Bondurant, Iowa DIAGNOSIS DATE: October 2019 PARENTS: Jordan and Molly Tingley SIBLINGS: Felix (3) What it felt like when we learned our child has SLC6A1? We experienced mixed feelings when Malia was diagnosed. In a way, we were relieved to finally have a
- [JC](https://slc6a1connect.org/jc/) - Charlie Fry NAME: JC (John Christopher) CURRENT AGE: 6 HOME TOWN & STATE: Mount Bethel, PA DIAGNOSIS DATE: January 2020 PARENTS: Laura & John SIBLINGS: Michael (2.5) What it felt like when we learned our child has SLC6A1? It's hard to put it into words, but when we learned that JC has SLC6A1 we were
- [Jaxon](https://slc6a1connect.org/jaxon/) - Charlie Fry NAME: Jaxon CURRENT AGE: 4 HOME TOWN & STATE: Thornton, CO DIAGNOSIS DATE: January 2018 PARENTS: Kellie & Glenn SIBLINGS: Tyler What it felt like when we learned our child has SLC6A1? At 4 months of age, we determined that Jaxon was delayed and would need substantial therapy to catch up. This discovery
- [Xander](https://slc6a1connect.org/xander/) - Charlie Fry NAME: Xander CURRENT AGE: 7 HOME TOWN & STATE: Allentown, PA DIAGNOSIS DATE: February 2020 PARENTS: Cesar & Yohanna SIBLINGS: Andy, Cesar, and Miamar What it felt like when we learned our child has SLC6A1? It was really hard to know that our child had a rare disease and there is no cure.
- [Pepijn](https://slc6a1connect.org/pepijn/) - Charlie Fry NAME: Pepijn CURRENT AGE: 5 HOME TOWN & STATE: Onstwedde, Netherlands DIAGNOSIS DATE: September 2018 PARENTS: Anne & Richard SIBLINGS: Liezelotte What it felt like when we learned our child has SLC6A1? When we found out about Pepijn's diagnosis, we felt absolutely devastated. Parents usually wish that their children grow up "normal" and without
- [Conor](https://slc6a1connect.org/conor/) - Charlie Fry NAME: Conor CURRENT AGE: 8 HOME TOWN & STATE: Oakdale, PA DIAGNOSIS DATE: June 2020 PARENTS: Nicole & Justine, Jaime & Liz SIBLINGS: Ayla, Lincoln and Lucy What it felt like when we learned our child has SLC6A1? It was a very bittersweet day. I was so relieved to have a name for
- [Wyatt](https://slc6a1connect.org/wyatt/) - Charlie Fry NAME: Wyatt Wayne Allen CURRENT AGE: 14 HOME TOWN & STATE: Altamont, TN DIAGNOSIS DATE: January 2020 PARENTS: Jeff & Taffi Allen SIBLINGS: Melina, Alora, and Quade What it felt like when we learned our child has SLC6A1? I got positive results for Wyatt and Melina at the same time. They were tested
- [Avaleigh](https://slc6a1connect.org/avaleigh/) - Charlie Fry NAME: Avaleigh Thorn CURRENT AGE: 2 HOME TOWN & STATE: Abilene, TX DIAGNOSIS DATE: August 2020 PARENTS: Sheryl and Elen Thorn SIBLINGS: Annistyn (10 months) What it felt like when we learned our child has SLC6A1? When our youngest biological child moved out of our family home to go to college, we became
- [Melina](https://slc6a1connect.org/melina/) - Charlie Fry NAME: Melina Therese Allen CURRENT AGE: 10 HOME TOWN & STATE: Altamont, TN DIAGNOSIS DATE: January 2020 PARENTS: Jeff & Taffi Allen SIBLINGS: Wyatt, Alora, and Quade What it felt like when we learned our child has SLC6A1? We received positive results for Melina and her sibling Wyatt at the same time. They
- [Alora Jean Allen](https://slc6a1connect.org/alora-jean-allen/) - Charlie Fry NAME: Alora Jean Allen CURRENT AGE: 9 HOME TOWN & STATE: Altamont, TN DIAGNOSIS DATE: February 2019 PARENTS: Jeff & Taffi Allen SIBLINGS: Wyatt, Melina, and Quade What it felt like when we learned our child has SLC6A1? 1. Relief. It's SOMETHING. And you can do something about something. 2. Confusion. How can
- [Quade](https://slc6a1connect.org/quade/) - Charlie Fry NAME: Quade Ryker Allen CURRENT AGE: 6 1/2 HOME TOWN & STATE: Altamont, TN DIAGNOSIS DATE: February 2019 PARENTS: Jeff & Taffi Allen SIBLINGS: Wyatt, Melina, and Alora What it felt like when we learned our child has SLC6A1? ….What are the chances that this could happen twice? How did you know something
- [Rowen](https://slc6a1connect.org/rowen-checklick/) - Charlie Fry NAME: Rowen CURRENT AGE: 2 1/2 years old HOME TOWN & STATE: Los Angeles, CA DIAGNOSIS DATE: January 2019 PARENTS: Kristina and Michael SIBLINGS: n/a What it felt like when we learned our child has SLC6A1? When we first learned of Rowen's diagnosis, we had no idea what it meant for her. The
- [Paxton](https://slc6a1connect.org/paxton-mcdonnell/) - Charlie Fry NAME: Paxton Lawrence CURRENT AGE: 3 HOME TOWN & STATE: Lake St. Louis, MO DIAGNOSIS DATE: July 2019 PARENTS: Aaron and Kari SIBLINGS: Hendrix (5) and Jovi (3 - twin) What it felt like when we learned our child has SLC6A1? When our pediatric neurologist first gave us the results of our son
- [William Louis](https://slc6a1connect.org/william-louis-feldman/) - Charlie Fry NAME: William Louis CURRENT AGE: 4 HOME TOWN & STATE: Story City, IA DIAGNOSIS DATE: March 27th, 2020 PARENTS: Nate and Whitney SIBLINGS: James and another due on May 12th! What it felt like when we learned our child has SLC6A1? Paralyzing, scary and heartbreaking. Although we felt we knew there was a diagnosis for what William
- [Mees](https://slc6a1connect.org/mees-lebouille/) - Charlie Fry NAME: Mees CURRENT AGE: 4 HOME TOWN & STATE: The Netherlands DIAGNOSIS DATE: 9-8-2018 PARENTS: Haikje & Rik SIBLINGS: Brother Tein & Sister Fiene What it felt like when we learned our child has SLC6A1? We knew something was wrong but to hear that it was a gene defect and thus something that
- [Jack](https://slc6a1connect.org/jack-hart/) - Charlie Fry NAME: John (Jack) Wilson CURRENT AGE: 6 HOME TOWN & STATE: South Riding, VA DIAGNOSIS DATE: June 2017 PARENTS: Joe and Janet SIBLINGS: Kayla, Allison, Claire, and Joshua What it felt like when we learned our child has SLC6A1? We felt relieved that we finally had an answer, but also an immense fear
- [Nevaeh](https://slc6a1connect.org/nevaeh-rae-frederick/) - Charlie Fry NAME: Nevaeh Rae CURRENT AGE: 14 HOME TOWN & STATE: Winter Haven, FL DIAGNOSIS DATE: Epilepsy- 2006; SLC6A1- July 2017 PARENTS: Sarah and Todd SIBLINGS: A half brother and a half sister What it felt like when we learned our child has SLC6A1? The SLC6A1 diagnosis really didn't change how we felt about
- [Garrett](https://slc6a1connect.org/garrett-winder/) - Charlie Fry NAME: Garrett Coble CURRENT AGE: 8 HOME TOWN & STATE: Allen, TX DIAGNOSIS DATE: August 2017 PARENTS: Alissa & Dan SIBLINGS: Benjamin What it felt like when we learned our child has SLC6A1? When genetic testing revealed Garrett had a true genetic mutation that accounted for his severe epilepsy, autism, developmental delays, and
- [Gabriel](https://slc6a1connect.org/gabriel-austin/) - Charlie Fry NAME: Charles Gabriel CURRENT AGE: 7 HOME TOWN & STATE: Chattanooga, TN DIAGNOSIS DATE: August 4, 2018 PARENTS: Chip and Judy SIBLINGS: Gemma (GiGi) What it felt like when we learned our child has SLC6A1? We immediately felt the metaphorical "punch in the gut". It was beyond anything we could have ever imagined.
- [Eleanor](https://slc6a1connect.org/eleanor-macdowell/) - Charlie Fry NAME: Eleanor (Ellie) Rose CURRENT AGE: 14 HOME TOWN & STATE: Honesdale, PA DIAGNOSIS DATE: Ellie was diagnosed with epilepsy at 2 years old and received the SLC6A1 diagnosis at 12 through genetic testing- due to refractory epilepsy. PARENTS: Shawn and Christina SIBLINGS: Dylan, Charlotte, Robert, and Patrick What it felt like when
- [Eden](https://slc6a1connect.org/eden-price/) - Charlie Fry NAME: Eden Rose CURRENT AGE: 21 months old HOME TOWN & STATE: Lynchburg, Virginia DIAGNOSIS DATE: June 2019 PARENTS: Brittani and Brian SIBLINGS: Lincoln and baby brother (due late 2019) What it felt like when we learned our child has SLC6A1? When we first found out that Eden was SLC6A1 positive, it was
- [Danika](https://slc6a1connect.org/danika-mayer/) - Charlie Fry NAME: Danika Stella CURRENT AGE: 3 HOME TOWN & STATE: Platteville, CO DIAGNOSIS DATE: May 2019 PARENTS: James and Lorretta SIBLINGS: Alexis, Taylor, Willow, and a puppy named Koda What did it feel like when we learned our child has SLC6A1? When Danika was first diagnosed it felt like a bad dream that
- [Axl](https://slc6a1connect.org/axl-doms/) - Charlie Fry NAME: Axl CURRENT AGE: 11 HOME TOWN & STATE: Roosdaal-België DIAGNOSIS DATE: April 2019 PARENTS: Gino and Leyla SIBLINGS: His sister, Naomi What did it feel like when we learned our child has SLC6A1? To be honest we were not that surprised. Finally, after 5 years, we had the answer we were always
- [Maxwell Freed](https://slc6a1connect.org/maxwell-freed/) - Charlie Fry NAME: Maxwell Norman Freed CURRENT AGE: 3 HOME TOWN & STATE: Denver, Colorado DIAGNOSIS DATE: Summer 2018 PARENTS: Mark and Amber Freed SIBLINGS: Riley Freed (twin) What it felt like when we learned our child has SLC6A1? We had been looking for answers for a long time, but every test was inconclusive. Then,
- [Arthur](https://slc6a1connect.org/arthur-randall/) - Charlie Fry NAME: Arthur CURRENT AGE: 4 HOME TOWN & COUNTY: Tonbridge, Kentz DIAGNOSIS DATE: May 2018 PARENTS: Lindsay and Daniel SIBLINGS: His sister, Eden What it felt like when we learned our child has SLC6A1? Confusing, scary, bewildering, worrying, overwhelming and lonely. We knew something was wrong with Arthur from very early on as we could see he was having
- [SLC6A1 Connect 2024 International Scientific Symposium and Family Conference](https://slc6a1connect.org/slc6a1-connect-2024-international-scientific-symposium-and-family-conference-bb/) - Header December 5 - 6, 2024 Omni Los Angeles Hotel at California Plaza 251 South Olive Street Los Angeles, California, USA Scientific Registration Family Registration Book Your Room Rare Reception Join us to find a cure We hope you will join us for SLC6A1 Connect's 2024 International Scientific Symposium and Family Conference to be held
- [SLC6A1 Connect 2024 International Scientific Symposium and Family Conference](https://slc6a1connect.org/slc6a1-connect-2024-international-scientific-symposium-and-family-conference-3/) - December 5 - 6, 2024 Omni Los Angeles Hotel at California Plaza 251 South Olive Street Los Angeles, California, USA Scientific Registration Family Registration Book Your Room Rare Reception Join us to find a cure We hope you will join us for SLC6A1 Connect's 2024 International Scientific Symposium and Family Conference to be held on
- [2023 SLC6A1 Connect Symposium](https://slc6a1connect.org/2023-slc6a1-connect-symposium/) - The 2023 SLC6A1 Connect Symposium was held on November 30th, 2023, the day before the annual American Epilepsy Society Conference. The events were held in Orlando, Florida. Both SLC6A1 researchers and several SLC6A1 families attended the symposium. Symposium Opening, Amber Freed, Founder SLC6A1 Connect Slides Introducing Cure GABA A Foundation Speaker: Monica Joanna ElnekavehInstitution: Cure GABA A
- [Elisabeth](https://slc6a1connect.org/elisabeth-furneaux/) - NAME: Elisabeth Tegen (known as Beth) CURRENT AGE: 7 HOME TOWN & STATE: Hungerford, Berkshire Uk DIAGNOSIS DATE: April 2018 PARENTS: Annette and Pete SIBLINGS: Maddy and Jago What it felt like when we learned our child has SLC6A1? Everything seemed daunting; the lack of knowledge about SLC6A1 was difficult to comprehend and process. When
- [VIP Rare C.A.R.E. Binder](https://slc6a1connect.org/vip-rare-c-a-r-e-binder/) - VIPrareCARE.com and the VIP Rare C.A.R.E. Binder were created for families caring for adults with rare epilepsies. The C.A.R.E. Binder addresses: Transitioning your loved one from the pediatric care setting to adult care providers Planning for long-term care after age 22 and beyond as your loved one ages Planning for the time when you are
- [Journal Articles](https://slc6a1connect.org/journal-articles/) - SLC6A1 is a recently discovered pathogenic mutation and is only on 13% of panel testing, so the condition is very under-diagnosed. Dr. Dennis Lal’s renowned genomics lab has published an incidence of 1;38,000 births. Please refer to his study in Brain for additional details along with an excel attachment. Dr. Ingo Helbig at Children's Hospital
- [Grant Program](https://slc6a1connect.org/grant-program/) - *WE ARE ACTIVELY MAKING GRANTS* *WE ACCEPT APPLICATIONS ON A ROLLING BASIS* Help us discover more about SLC6A1 so we can help those who are diagnosed with it. The SLC6A1 Connect research grant program will be used to fund gene therapy research that will help us to learn more about SLC6A1 and how gene therapy
- [Genetic Testing](https://slc6a1connect.org/genetic-testing/) - SLC6A1 Connect has partnered with Probably Genetic to increase access to genetic testing within our community. Probably Genetic's no-cost genetic testing program for pediatric epilepsy disorders is patient-initiated and includes genetic counseling to explain any questions or findings. If you or a loved one are experiencing symptoms associated with pediatric epilepsy or developmental disorders, you can
- [The Path to Resilience: A Guide for Parents of SLC6A1 Children](https://slc6a1connect.org/the-path-to-resilience-a-complete-handbook-for-parents-of-slc6a1-children/) - by Don Lewis at Ability Labs Image via Freepik Welcome to a sanctuary designed just for parents who are caregivers to children with the rare genetic disorder SLC6A1. Navigating life with a child who has this condition is undeniably challenging. This SLC6A1 Connect guide aims to empower you by providing critical information and support strategies. Together, we'll
- [VIP Siblings](https://slc6a1connect.org/vip-siblings/) - In the rare disease world, siblings may experience just as much difficulty as their afflicted brothers or sisters. Parents and guardians expend an incredible amount of time and energy on ensuring their rare disease child attends therapies and doctor's appointments, all while researching the specific disease and maintaining the household. As expected, these non-SLC6A1 siblings
- [Recommended Doctors](https://slc6a1connect.org/recommended-doctors/)
- [Fundraisers](https://slc6a1connect.org/fundraisers/) - We Need Your Help! Sponsor our natural history study 2nd Annual Bingo Night "A Cure for Charlie" Saturday, November 25 · 6 - 8:30pm CST Kansas City, MO Sponsor our 2023 International Symposium in Orlando, FL Shop Threads Worldwide Threads Worldwide creates life-changing work and connections with women around the world through the fair trade
- [International Chapters](https://slc6a1connect.org/advocacy/) - Belgium Italy Netherlands Spain The United Kingdom
- [COMBINEDBrain Biorepository](https://slc6a1connect.org/combinedbrain-biorepository/) - Currently enrolling participants Principal investigator: SLC6A1 Connect in partnership with COMBINEDBrain Email to enroll About the study COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our
- [Current Research](https://slc6a1connect.org/gene-therapy/) - The Gray Lab Steven Gray, PhD; Berge Minassian, MD; and Kimberly Goodspeed, MDUniversity of Texas Southwestern SLC6A1 Syndrome associated with mutations in the SLC6A1 gene severely disables affected children. At the basic mechanism level, the brains of children lacking this gene cannot generate adequate energy for proper functioning of the brain. Unfortunately, there is neither
- [Medical Board of Advisors](https://slc6a1connect.org/medical-board-of-advisors/) - Dr. Scott Demarest is an assistant professor in the Department of Pediatrics, Division of Neurology and the Adult & Child Consortium for Health Outcomes Research and Delivery Science. He is board certified in Neurology with special qualification in Child Neurology as well as Epilepsy. His clinical practice and research focus on the evaluation and treatment
- [Attract New Hires With Disabilities to Your Business With These Considerations](https://slc6a1connect.org/attract-new-hires-with-disabilities-to-your-business-with-these-considerations/) - by Don Lewis at Ability Labs It’s no secret that people with disabilities face unique challenges when it comes to finding and maintaining employment. From a lack of accessibility to inflexible work schedules, there are several barriers that can prevent an individual with a disability from reaching their full potential in the workplace. However, there
- [Angel Flight NE Assists Rare Disease Patients](https://slc6a1connect.org/angel-flight-ne/) - Angel Flight NE is a 501(c)3 nonprofit organization that coordinates free air and ground transportation for medically stable patients seeking medical care for healthcare conditions including rare and ultra-rare diseases that requires them to travel hundreds if not thousands of miles for the specialized care they need. Our vital mission is made possible through the generosity
- [October 2018](https://slc6a1connect.org/slc6a1-connect-partners-with-dr-steven-gray/) - FOR IMMEDIATE RELEASE Contact: Amber Freed, SLC6A1 Connect Email: afreed@slc6a1connect.org SLC6A1 Connect Partners with Dr. Steven Gray Pre-clinical lab work currently underway on gene replacement therapy to treat SLC6A1 DENVER, CO, October 2018 – SLC6A1 Connect is proud to announce a partnership with Dr. Steven Gray from UT Southwestern to develop a gene replacement therapy to treat SLC6A1 mutation.
- [November 2018](https://slc6a1connect.org/november-2018/) - FOR IMMEDIATE RELEASE Contact: Amber Freed, SLC6A1 Connect Email: afreed@slc6a1connect.org SLC6A1 Connect Earns GuideStar Platinum Seal for 2018 Potential funders can see that SLC6A1 Connect is Committed to Highest Level of Transparency DENVER, CO, October 2018 – SLC6A1 Connect is proud to announce that we have earned the GuideStar Platinum Seal of Transparency for 2018. This is the
- [Research Philosophy](https://slc6a1connect.org/research-philosophy/) - SLC6A1 Connect is a patient organization that was formed out of necessity - Our children are sick. Our goal is for our organization not to not exist in 5 years because a cure is in place. By that time, we will have moved on to curing the next rare disease. SLC6A1's research mindset was formed
- [Research Philosophy](https://slc6a1connect.org/research-philosophy-2/) - SLC6A1 Connect is a patient organization that was formed out of necessity – Our children are sick. Our goal is for our organization not to not exist in 5 years because a cure is in place. By that time, we will have moved on to curing the next rare disease. SLC6A1’s research mindset was formed
- [Our Partners](https://slc6a1connect.org/partnerships/) - It Takes a Village to Raise a Child. Partnering with SLC6A1 Connect makes an immediate impact on the lives and hopes of children and families suffering from a rare genetic disease. Whether you’re a large organization, a small business or a person with a big heart, every partnership helps. Our Supporters Our Partners Join Our Team
- [In Memory of Claudette Maraziti](https://slc6a1connect.org/in-memory-of-claudette-maraziti/) - SLC6A1 Connect is a registered nonprofit under Internal Revenue Service Section 501(c)(3), run entirely by volunteers to fund research. We are mothers racing to find a cure for our children. Every penny goes straight to research. Every dollar raised goes directly to SLC6A1 research and the development of a cure! We are simply just a
- [SLC6A1 Families Across the World](https://slc6a1connect.org/slc6a1-familymap/)
- [Available Disease Models](https://slc6a1connect.org/available-mice/) - The mouse model has been robustly phenotyped and used to model both neuropsychiatric and epileptic syndromes. Mice Please reach out to Amber Freed for phenotypic information on each mouse. Cells iPSC with Crispr Control Line: email Amber Freed directly. GABA Neurons: email Amber Freed directly. Fibroblasts & LCLs can be ordered via the Coriell Institute.
- [Want To Help?](https://slc6a1connect.org/want-to-help/) - There are so many ways that you can help - and we appreciate every single one of them! To make a direct donation or gift, Donate Here. Please see our Fundraisers page to find out about upcoming fundraisers you can sponsor to help raise funds and awareness for SLC6A1 Connect. Plan a fundraiser of your
- [Newly Diagnosed](https://slc6a1connect.org/newly-diagnosed/) - To Do List: First and foremost, it is vital to join our two patient registries with Simons Searchlight and Ciitizen.com. Click here for more information: SLC6A1 Patient Registry. A patient registry is the primary method to connect patients with researchers and to alert patients of new treatments. Contact Amber Freed at afreed@SLC6A1Connect.org to be included
- [2022 SLC6A1 Connect Symposium](https://slc6a1connect.org/2022-slc6a1-connect-symposium/) - The 2022 SLC6A1 Connect Symposium was held on December 1st, 2022, the day before the annual American Epilepsy Society Conference. The events were held in Nashville, Tennessee. Both SLC6A1 researchers and several SLC6A1 families attended the symposium. Symposium Opening Speaker: Amber Freed, Founder SLC6A1 Connect Slides, Video 1. Clinical Trial Readiness for SLC6A1-related neurodevelopmental disorder
- [Company Gift Matching](https://slc6a1connect.org/company-gift-matching/) - The following is a list of companies that offer gift matching. If you don't see your employer on the list, ask your company's Human Resources office if they offer gift matching, and if not, ask them to start. To add SLC6A1 Connect to their list of charities, have your Human Resources office contact SLC6A1 Connect
- [SLC6A1 Resources and Information Summaries](https://slc6a1connect.org/slc6a1-resources-and-information-summaries/) - Author: Jacob Tiller Here at SLC6A1 Connect, we believe that each family deserves access to accurate and understandable information related to their childrens’ conditions. Please find the link to our “Parental Overview” here- Scientific Overview. In addition to this condition overview covering the scientific foundations of the SLC6A1 genetic mutation, we have provided information on
- [Current Trials](https://slc6a1connect.org/current-trials/) - Partner Paper 4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models
- [Parent and Family Scientific Overview](https://slc6a1connect.org/resources/scientific-overview/) - Author: Jacob Tiller The SLC6A1 Gene is responsible for the encoding of a transporter that removes the GABA from a place called the synaptic cleft, the gap between brain cells. GABA is an important inhibitory neurotransmitter, meaning it helps regulate overactivity in brain cells. When a mutation occurs, and the SLC6A1 gene is no longer
- [Maxwell & Riley's Birthday](https://slc6a1connect.org/milestones-for-maxwell/birthday/)
- [Access to Therapies](https://slc6a1connect.org/access-to-therapies/) - We vehemently refute the notion that an expanded access program cannot be conducted in parallel with a clinical trial, and reject the notion that doing so poses an ethical issue. In fact, keeping a therapy that can only reach someone who doesn’t qualify for a trial through the provision of expanded access from them poses
- [COMBINEDbrain](https://slc6a1connect.org/partnerships/combinedbrain/) - SLC6A1 Connect is a member of COMBINEDbrain a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain’s mission is to speed clinical trial readiness for severe cognitive disorders by pooling resources and working together across all of our member disorders. The other members of CB that we are in
- [Inclusivity Policy](https://slc6a1connect.org/inclusivity-policy/) - SLC6A1 Connect’s Inclusivity Policy SLC6A1 Connect is a 501(c)(3), nonpartisan organization that deliberately prioritizes diversity. We are committed to building an inclusive community that serves as a voice for all, including the most vulnerable among us. SLC6A1 Connect intentionally supports the empowerment of women, people from diverse backgrounds, the LGBTQ+ community, people with disabilities, and
- [Media](https://slc6a1connect.org/media/) - https://www.facebook.com/TomasHoppoughNational/videos/409772043055205/ Our campaign to raise awareness of SLC6A1 and to raise money to develop a gene therapy cure has gained attention in local and state media. SLC6A1 Connect and Milestones for Maxwell have been featured in the following: Media Archive Article in MIT Technology Review 10/23/18 Article in the Pueblo Chieftan 1/26/19 TV Feature on
- [Videos](https://slc6a1connect.org/videos/) - Characteristics of SLC6A1 (Videos Courtesy of Families) Dyspraxia : impairment of the ability to perform coordinated movements Hand Stereotypy : frequent repetition of the same, typically purposeless movement, gesture, posture, or vocal sounds or utterances Refusal to Hold Objects/Does Not Reach for Toys SLC6A1 Drop Seizures SLC6A1 Seizures https://youtu.be/4aeNqThYlC0 Eye Fluttering (Absence Seizures) https://www.youtube.com/watch?v=zGPsHi0KUmY&feature=youtu.be https://www.youtube.com/watch?v=QAScsiCKC14&feature=youtu.be *Please see
- [Milestones for Maxwell](https://slc6a1connect.org/milestones-for-maxwell/) - Amber Freed is raising $4,000,000 to cure her son, and others, of a rare neurological disease called SLC6A1. Every dollar counts. Maxwell's Story https://youtu.be/xbNXxMJ4xW8After 2 years of IVF, Maxwell and Riley Freed were born on March 27, 2017 and made us the most happy people on the planet. In an instant, our lives were filled with purpose
- [2019 Scientific Symposium](https://slc6a1connect.org/2019-patient-scientist-conference/) - 2019 SLC6A1 Connect International Conference Schedule (.pdf) SLC6A1 Connect Update Speaker: Amber N. Freed, Organization: SLC6A1 Connect Video: (Link) "The CEO and founder of SLC6A1 Connect, Ms. Freed’s background is in equity and financial analysis. Through SLC6A1 Connect, she has elevated awareness and created a network that can systematically help fund and consolidate
- [Team Maxwell](https://slc6a1connect.org/team-maxwell/) - Maxwell with his mom, Amber, his sister, Riley, and his dad, Mark. We are incredibly grateful for the wonderful support we've received from our family, friends, co-workers, and those in the medical and scientific communities. Though it would be impossible for us to list every person who has made a difference on this journey so
- [Letter from the Founder](https://slc6a1connect.org/letter-from-the-founder/) - Think about debilitating rare diseases like ALS, muscular dystrophy, and epilepsy. Now imagine a world without them. There are nearly 6,000 rare diseases in existence and my passion is to imagine a world where they no longer exist. I waited until my mid-30s to start a family so I would be established in my equity
- [Maxwell's Story](https://slc6a1connect.org/maxwell/) - I'm Maxwell and I'm one year old. I have a twin sister named Riley and a kitty cat named Nittany, and most of the time I think they're both pretty great. Most of the time... I was diagnosed with SLC6A1 in May of 2018, just a couple months after my first birthday. Mom and Dad
- [Patient Registry](https://slc6a1connect.org/patient-registry/) - We have partnered with Simons Searchlight for a patient registry. Simons Searchlight is an online community that supports families with rare genetic changes (also called “genomic variants”) associated with features of autism and developmental delay. We provide access to resources, information, and family support. Simons Searchlight also provides an opportunity for families to participate in research. Participants receive
- [Gene Therapy Research](https://slc6a1connect.org/current-research/) - SLC6A1 Connect is proud to announce a partnership with Dr. Steven Gray from UT Southwestern to develop a gene replacement therapy to treat SLC6A1 mutation. Pre-clinical lab work is currently underway. Article: Patients with rare brain diseases help scientists open new doors for gene therapy Why Gene Therapy? Scientific Explanation: SLC6A1 is a heterozygous haplo-insuficient,
- [Frequently Asked Questions](https://slc6a1connect.org/frequently-asked-questions/) - (From the NIH U.S. National Library of Medicine site, ClinicalTrials.gov) What Is a Clinical Study? A clinical study involves research using human volunteers (also called participants) that is intended to add to medical knowledge. There are two main types of clinical studies: clinical trials (also called interventional studies) and observational studies. ClinicalTrials.gov includes both interventional
- [Mees's Story](https://slc6a1connect.org/meess-story/) - Mees is a very affectionate, busy and sweet boy from 3,5 years old. He got his SLC6A1 diagnosis when he was 2 years and 9 months old. When Mees was about 6 months old, he was very interested in his hands. He kept looking at them and turned/moved his hands in front of his eyes/face.
- [University of Pennsylvania](https://slc6a1connect.org/university-of-pennsylvania/) - The Prosser Lab Benjamin Prosser, PhD; Ingo Helbig, MD; and Beverly Davidson, PhD University of Pennsylvania "Targeting micro-RNAs to treat genetic epilepsies" Supported by AES, The Cute Syndrome Foundation, and SLC6A1 Connect Scientist Thesis Statement: Numerous genetic epilepsies arise from haploinsufficiency, the reduced expression of epilepsy associated genes. The Prosser lab hypothesizse that the expression of
- [Research](https://slc6a1connect.org/research-2/) - Prevalence SLC6A1 is a recently discovered pathogenic mutation and is only on 13% of panel testing, so the condition is very under-diagnosed.Dennis Lal’s genomics lab predict (unpublished, in review) 2.6 (CI:2.3-2.8) new SLC6A1 patients in 100,000 births, which translates to an incidence of about 1 in 38,000 births. In addition: SLC6A1 is the 10th most
- [Presentations](https://slc6a1connect.org/presentations/) - Phenotypic spectrum of patients with SLC6A1 mutations - Katrine Johannesen https://www.youtube.com/watch?v=P2dD_DB1keo SLC6A1: MAE and More - Katrine Johannesen Power Point Presentation - Click Here to Download
- [Past Events](https://slc6a1connect.org/past-events/) - Thrive Mortgage Gala - March 8, 2019 Shoe Drive Benefiting Milestones for Maxwell - February 18th to April 12th, 2019 Fit4Mom Loves Maxwell - March 15, 2019 Ride and Rosé - Rush Cycle Denver Highlands - March 23, 2019 Peach Fundraiser for Milestones for Maxwell - March 31, 2019 Gold Mine Cupcakes Mother & Son
- [Arthur's Story](https://slc6a1connect.org/arthurs-story/) - Hello, our son is called Arthur and he was born April 2016 (UK). Arthur is such a wonderful little boy, a total joy for all of us in his life. He is full of energy, loud and funny. He is the most sociable 2 year old I have ever known. He loves to be with
- [Store](https://slc6a1connect.org/shop/) - We're excited to announce that we're opening up a web store where you'll be able to buy t-shirts, mugs, hats, and other items to support our cause. All proceeds will go toward the foundation. Link coming soon!
- [Letter from the Founder](https://slc6a1connect.org/letter-from-the-founder-2/) - Think about debilitating rare diseases like ALS, muscular dystrophy, and epilepsy. Now imagine a world without them. There are nearly 6,000 rare diseases in existence and my passion is to imagine a world where they no longer exist. I waited until my mid-30s to start a family so I would be established in my equity
- [Thank you!](https://slc6a1connect.org/our-donors/) - To our donors: We can't emphasize enough how important fundraising is to our research efforts. So it is with the utmost appreciation that we thank those who have contributed to our cause. Without your help, it wouldn't be possible to move the cure for SLC6A1 from bench to bedside. So, thank you, from all of
- [2018 SLC6A1 Symposium](https://slc6a1connect.org/slc6a1-symposium/) - https://www.youtube.com/watch?v=cvKlQD7MQHo&t=6s. Our Symposium was a great success and SC6A1 is steadily making progress due to the diligent work of our attendees. We thank everyone who showed up and made this event happen! The video and sound quality of the recording is poor due to a hotel power outage. Below is a summary of our presenters,
- [Our Heroes](https://slc6a1connect.org/our-heroes/) - Doctors, Researchers, and Clinicians Brandon Prentice, Chief Research Consultant - Mr. Prentice is a University of Denver alumnus with a BS in Biological Sciences. After managing a local, Denver non-profit, he came across our story and developed an interest in genetics. He currently supports our team by analyzing relevant research articles and providing summaries that are
- [Scientist FAQs](https://slc6a1connect.org/scientist-faqs/) - SLC6A1 – Scientist Flashcard AKA: GABA Transporter – 1 Phenotype Myoclonic Atonic Seizures Absence Seizures Autism Spectrum Disorders Intellectual Disability Delayed Speech Ataxia Hypotonia Gene Facts Location: 3p.25.3 Protein Encoded: GABA Transporter 1 Size: 4.7 kbps Gene Card Profile: Click Here (Here is the link: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A1&keywords=SLC6A1) Mice (that Exhibit Phenotype) are Available Here Skin cells
- [Chase's Story](https://slc6a1connect.org/chase/) - My name is Chase and I’m almost five years old. I have an older brother, Kaiden, who is seven. I love to follow him everywhere because Kaiden’s my best friend! We play hockey, build forts in the living room, and make amazing crafts together. Mom named me Chase when I was born, because she had
- [Lolly's Story](https://slc6a1connect.org/lolly/) - My name is Lolly, and I’m 11 years-old. I love My Little Pony, making slime, remembering people’s birthdays, and hanging out with my friends. I had trouble with speech and language when I was younger, so my parents worked to get me into doctors who could tell them what was going on. Sometimes I lost
- [Diet Therapies](https://slc6a1connect.org/diet-therapies/) - The Ketogenic Diet The ketogenic diet has shown to help patients with an SLC6A1 diagnosis and seizure activity (Read Study) and it’s popularity is growing. The diet promotes the metabolic formation of ketone bodies by causing the body to use fat, rather than carbohydrates, as its principal energy source. New studies show that the ketogenic diet,
- [Michael's Story](https://slc6a1connect.org/michael/) - My name is Jackie, and my son has SLC6A1. Here is our story. I was so excited when I found out I was pregnant. My sister-in-law and my sister both got cancer at the same time and passed away within weeks of each other, shortly followed by my Uncle. It was a sad time, full
- [Jack's Story](https://slc6a1connect.org/jack/) - Jack is a very happy, curious, and busy 5 year old boy! We received his SLC6A1 diagnosis in June of 2017. We spent a couple of years trying to figure out what issues he may have going on. Jack was born at 36 weeks and was healthy. The first thing we noticed was that Jack
- [Resources](https://slc6a1connect.org/resources/)
- [Research](https://slc6a1connect.org/research/) - SLC6A1 is a relatively new gene with little information existing. Dr. Ingo Helbig at Children's Hospital of Philadelphia wrote a blog explaining the condition in Beyond the Ion Channel: Here. Here are some articles that other parents have found helpful in understanding their children's disease: Aggravation of Epilepsy by Anti-Epileptic Drugs GABA Transporter Deficiency Causes Tremor,

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- [The Diagnostic Odyssey](https://slc6a1connect.org/bootcamp/the-diagnostic-odyssey/) - by Amber Freed When you have a child, you want the best for that child in every way. This includes access to whatever healthcare is required for a healthy life. For parents of children born with a genetic disorder, a correct diagnosis is the first step to receiving that care. Because children with a rare

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