If you are located outside of the US, please let us know ASAP, so we can connect you with one of our dear sister organizations.
Your first step starts here.
A diagnosis of SLC6A1 can feel like the ground has shifted beneath you. We've put everything you need to know — specialists, registries, treatments, and community — into one clear, compassionate guide written by parents who've been exactly where you are.
History
SLC6A1 Connect was founded by Amber Freed in 2018 when her son Maxwell was diagnosed. Amber was told nothing could be done, to go home and give Maxwell the best life possible. Amber left her career in equity research and focuses 100% of her focus on SLC6A1.
Similar like-minded parents have joined our cause from all over the world including:
Kim Fry our Vice President/Fundraising Chair
Laura Bermingham is our Program and Conference Organizer
Sandy McEntee in charger of special projects
What is SLC6A1?
Watch these videos to understand SLC6A1 and this video to understand genetic disease.
Treatments
Traditional treatments for SLC6A1 encephalopathy have primarily included anti-epileptic medications and comorbidities such as ADHD, anxiety, and behavioral regulation. It is never a good time to be diagnosed with a rare disease like SLC6A1, but we have made incredible strides with centers of excellence, a repurposed drug, a patient treated with gene therapy and more treatments on the horizon.
Sign up for our patient registries
Patient Database
This information helps us reach out to keep you informed with news and information about future clinical trials and treatments. We need to know who you are so we can serve you best.
The Matrix
Matrix is running a Natural History Study for SLC6A1 Connect. Data is collected through surveys completed by patients, parents, and caregivers. You may also upload important medical records. We are asking all families worldwide to participate.
Simons Searchlight
Simons collects data through surveys completed by parents and caregivers. This information is shared with researchers studying SLC6A1. Gift cards are provided for completing surveys.
Citizen Health
Citizen Health partners with SLC6A1 Connect to use health data to improve care and drive research toward treatments and a cure for SLC6A1. It is also a free platform to retrieve, store, and share your loved one’s medical records. Sign-up takes about 10 minutes.
Traditional Treatments
A prior, FDA-approved medication named glycerol phenylbutyrate (Ravicti), has been identified as potentially addressing the underlying cellular mechanism of SLC6A1. A pilot study involving nine SLC6A1 patients demonstrated safety and efficacy.
The medication is expensive, so begin conversations with your doctor and the insurance battle soon.
Our best advice is to engage with other parents and reference our playbook for obtaining coverage.
Additional Information
- Download the SLC6A1 resource guide
- Join our Facebook support group
- Follow us on Facebook
- Follow us on Instagram
- Follow us on LinkedIn: SLC6A1 and Amber Freed
- We host an annual International Scientific Symposium and Family Conference brings together families, researchers, and clinicians. You may register for the 2026 Conference scheduled for December 3-4th in Denver, Colorado here.