Slc6a1 Connect

01/15/2026

And here we are — confidently stepping into 2026 with more momentum than ever.

Seven years ago, our children’s condition was dismissed as nothing more than alphabet soup — just a collection of letters on a page. Today, because of you — our community’s strength, passion, and relentlessness — we’ve accomplished what many said was impossible:

🌟 A once-and-done gene therapy designed to replace the missing DNA
💊 A repurposed drug that benefits 80% of children
🌍 Centers of excellence now located around the world
We now have SLC6A1 parents and advocates around the globe on the warpath to change life for our children — and 2026 is already shaping up to be a landmark year.
Here are some upcoming events and opportunities to plug in:

📍 Worldwide Clinical Trials — San Diego, CA
🗓 January 22, 2026

📍 RARE Advocate Development (RAD) Brain Workshop — Boston, MA
🗓 January 27–29, 2026

📍 World Orphan Drug Congress USA — Boston, MA
🗓 June 9–11, 2026

📍 Notre Dame Rare Disease Day
🗓 February 27, 2026

Would you like to become more involved? Whether it’s advocacy, fundraising, community outreach, or supporting research efforts — we’d love to connect you with meaningful ways to make an impact.
DM us!

Thank you for standing with us — for your courage, your voice, and your unwavering belief that better days are coming.

Amber Freed

01/08/2026

Meet our new intern!!!

Snehitha is a sophomore at Wylie High School who hopes to pursue the medical pathway. She loves giving back to her community in any way she can and is excited to be working with SLC6A1 Connect on our incredible journey! 💙

12/29/2025

🌟 Please meet the newest member of the SLC6A1 team! 🌟

Hamilton Roebken, a sophomore at the University of Notre Dame studying Neuroscience with a minor in Rare Diseases and Bioengineering, presented his summer research on hashtag at Notre Dame’s Fall Undergraduate Research Fair (FURF).

Over the summer, Hamilton had the opportunity to work with Dr. Alexander Rotenberg and Dr. Henry Lee investigating the excitatory neural pathway of SSADHD — a project that has deepened his passion for neuroscience and rare disease research.

Since last winter, Hamilton has also served as an Intern with Slc6a1 Connect, where he continues to grow professionally and contribute to meaningful work in the rare disease community.

Hamilton is going to make a big impact on this world and we are honored to have him! 🎓✨

12/22/2025

In partnership with , we are thrilled to award Melissa DeLeeuw from the a $20,000 grant to support their research on . Together, we’re writing a brighter story for the community! We hope you’ll join us in person as and celebrate Melissa alongside nine other early-career researchers at Uplifting Athletes’ Young Investigator Draft on Saturday, January 31, in Philadelphia. To learn more, visit the link in our bio!

12/22/2025

In partnership with Uplifting Athletes, we are thrilled to award Melissa DeLeeuw a $20,000 grant to support their research on ! Together, we’re writing a brighter story for the community!

Join us as and celebrate Melissa alongside nine other early-career re-searchers at Uplifting Athletes’ Young Investigator Draft on Saturday, January 31 at Lin-coln Financial Field in Philadelphia.

To learn more and purchase tickets for , visit https://charity.pledgeit.org/YID2026.

12/21/2025

Happy Birthday to fighter mom Erin McKie 🎉 Celebrating by lifting up her strength—and by supporting her GoFundMe for her beautiful baby, Kate. 💛

She has raised $30,000 in a week!!!

https://www.gofundme.com/f/4nky6-a-cure-for-kate?attribution_id=sl:ac45642b-a4fa-467d-bb89-04e67a064ab4&lang=en_US&ts=1765580239&utm_campaign=man_sharesheet_dash&utm_content=amp17_te&utm_medium=customer&utm_source=copy_link

12/15/2025

✨ I never knew if I’d get to say this — but here it is: Maxwell has finally received treatment. ✨

We are seeing real progress. Real hope. Real change. ❤️

From a diagnosis in 2018 to receiving a genetic treatment in 2025 — it felt like an eternity, but truly, it’s a miracle.

For the past 6½ years, I’ve poured 60–70 hours a week into pushing science forward — engineering mice, rallying researchers, hosting conferences, fundraising nonstop. I never stopped believing… even through sleepless nights, doubt, and fear.

And now… we’ve reached the moment we’ve been fighting for.
It still doesn’t feel real to write.

If you’re reading this, you likely donated, shared, encouraged, or simply stood beside us during the hardest days.

You helped save my child’s future. 🙏

“Thank you” feels too small, but it’s all I have.
I owe you a hug. 🤗

But this isn’t the end.
We’re fighting harder than ever.

✅ The groundwork is laid.
✅ Maxwell has tolerated the gene therapy well in these early days. ❤️
✅ We now have a manufactured drug in a refrigerator and a clear path forward.

Today marks the start of our next mission:

💪 Fundraising to complete the Phase 1/2 clinical trial and work toward an FDA-approved treatment that insurance will cover.
Thank you for helping us get here.

We’re not done — we’re just beginning. 🚀
Donate Here: https://giving.classy.org/campaign/740751/donate

With unwavering determination and deep gratitude,

Amber (Mom and Founder)

https://www.youtube.com/watch?v=hjpkFEoyUa4

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12/15/2025

Our community has something real to be hopeful about! There’s a genetic therapy ready in a refrigerator, and our goal is to hold a Phase 1/2 trial in 2026.

Please consider giving little Kate a chance 💛

https://www.gofundme.com/f/4nky6-a-cure-for-kate?attribution_id=sl:ac45642b-a4fa-467d-bb89-04e67a064ab4&lang=en_US&ts=1765580239&utm_campaign=man_sharesheet_dash&utm_content=amp17_te&utm_medium=customer&utm_source=copy_link

12/07/2025

🔥 URGENT: A child’s life is changing — and others are running out of time. 🔥

You may have seen the story about 8-year-old Maxwell — born with a disease so rare it didn’t even have a name. This fall, he became the FIRST child in the world to receive a gene therapy for SLC6A1. 💉✨

Thanks to years of relentless work — fundraising, research, and sheer love — his treatment finally happened. And now… other children are waiting for their chance. 🧒💔

⏳ Here’s the reality:
Every day without treatment means lost skills, suffering, and irreversible damage.
Every day we wait, another child falls behind.

But YOU can help change that. 💙

👉 Please donate today to help bring this treatment to other families who are desperately waiting for hope.
🙏 Every single dollar matters.
💫 Every share helps us reach someone who can save a life.

💛 Thank you for being part of their miracle.

Amber Freed tells PEOPLE how she worked for years to find a treatment for her son Maxwell's SLC6A1 diagnosis, and finally got the treatment administered in September, making history in the process.

12/07/2025

https://people.com/8-year-old-has-disease-so-rare-doesnt-have-name-first-receive-treatment-exclusive-11848935

Amber Freed tells PEOPLE how she worked for years to find a treatment for her son Maxwell's SLC6A1 diagnosis, and finally got the treatment administered in September, making history in the process.

12/06/2025

8-Year-Old Has Disease So Rare It Doesn’t Have a Name. Now He’s First in the World to Receive Treatment (exclusive) https://people.com/8-year-old-has-disease-so-rare-doesnt-have-name-first-receive-treatment-exclusive-11848935