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, ultimately, a cure.

Our Story

SLC6A1 is a rare neurological condition that causes epilepsy, movement and speech disorders, intellectual disability, and a wide range of behavioral and psychiatric challenges. For many families, the first time they see the word “SLC6A1” is in a genetics report delivered with the phrase, “there’s nothing we can do.”

In 2018, after her son Maxwell was diagnosed with an SLC6A1 variant, our founder Amber Freed left her career in finance and created SLC6A1 Connect. What began as one family’s urgent search for options has grown into a global, patient-driven movement that brings together families, clinicians, scientists, and industry partners around a single goal: change the future for everyone with SLC6A1.

What We Do

We focus our time, energy, and resources where they can have the greatest impact for patients today and for generations to come:

Accelerate Research & Therapies

  • Fund innovative science aimed at disease-modifying treatments, including gene therapy and other novel approaches.
  • Repurpose and de-risk promising therapies by supporting preclinical and translational work, so treatments reach patients faster.
  • Create an ecosystem of collaborators—academic labs, biotech and pharma companies, and other rare disease partners—to avoid duplication and speed progress toward a cure.

Support Families

A diagnosis of SLC6A1 changes everything. We walk alongside families from the moment they hear the word “SLC6A1” and throughout their journey:

  • Newly diagnosed guidance to help families understand the condition, next steps, and how to plug into expert care.
  • Practical resources, including information on therapies (like diet therapy for seizures), clinical trials, recommended clinicians, and patient registries.
  • Community connection through our family map, support groups, and social channels so no one has to navigate this diagnosis alone.

Advocate & Raise Awareness

We work to make SLC6A1 visible in the broader epilepsy, autism, and rare disease communities:

  • Elevating SLC6A1 at scientific meetings, gene therapy panels, and rare disease forums around the world.
  • Partnering with leading organizations and coalitions to improve diagnosis, access to care, and research infrastructure.
  • Sharing family stories in the media to build empathy, awareness, and momentum for change.

Power Progress Through Fundraising

Scientific breakthroughs only become real treatments when they are funded.

  • We raise critical dollars to move research from promising ideas to therapies in clinical trials.
  • Every donation—large or small—helps fuel the next experiment, the next data point, and the next step toward a cure.

Who We Serve

We exist for:

  • Children and adults with SLC6A1-related disorders, wherever they live in the world.
  • Parents, siblings, and caregivers doing the everyday work of love, care, and advocacy.
  • Clinicians and researchers seeking partners, data, and resources to advance their work.
  • Allies and advocates who believe that rare disease families deserve answers, options, and hope.

How to Get Involved

For Families

  • Newly diagnosed? Start with our patient resources to understand SLC6A1, registries, and next steps in care.
  • Looking for connection? Meet other families through our SLC6A1 family map, Facebook Group, and Our Kids stories.
  • Share your story. Your experience brings awareness, hope, and connection to others on this journey.
  • Host a fundraiser. Rally your community or workplace to support research and help move us closer to a cure.

For Researchers & Clinicians

We’d love to collaborate with you on:

  • Therapeutic development and translational research
  • Natural history studies and outcome measures
  • Biomarkers, imaging, and innovative trial designs

If you have an idea, please email Amber Freed at afreed@slc6a1connect.org.

For Donors & Partners

You can help change the trajectory of this disease:

  • Donate to advance promising research and support families.
  • Host a fundraiser in your community or workplace.
  • Partner with us as a corporate, foundation, or strategic ally.

If you have questions or want to help, please email Kim Fry at kfry@slc6a1connect.org.

Together, We Are SLC6A1 Connect

SLC6A1 may be rare, but the determination of this community is not. Families, scientists, clinicians, and advocates worldwide are joining forces to turn “nothing we can do” into “look how far we’ve come.”

Please visit our Contact Us and Donate pages to take the next step.