Slc6a1 Connect

04/09/2026

Grateful to Kimberly Fry for representing the SLC6A1 community at this important gathering 🤍

What stood out about this event was the shared recognition that rare disease is not just a collection of individual conditions—it is an opportunity to build something far more connected across science, clinical care, trials, and long-term partnership 🔬

Kim brought an authentic, grounded voice to that conversation—highlighting both the real progress we are seeing and the structural barriers families continue to face every day. That balance of momentum and honesty is exactly what moves this field forward 📈

Thank you, Kim, for showing up with clarity, conviction, and a deep commitment to our community 🙏


CACNA1A CSNK2A1 DravetSyndrome SCN2A SCN8A KCNQ2 FOXG1 GRIN SYNGAP1 LennoxGastaut
RareEpilepsy PatientAdvocacy PrecisionMedicine GeneTherapy

03/24/2026

🚨 Breakthrough for the SLC6A1 community 🚨

A newly published study has identified something we’ve all been searching for:
👉 a quantifiable, objective biomarker for SLC6A1-related neurodevelopmental disorder.

Researchers analyzed EEG data and found that delta power (slow brain wave activity) is significantly elevated in individuals with SLC6A1—and, importantly, it behaves differently over time than in typically developing children. ()

Even more exciting:
✨ This signal can distinguish patients from controls with very high accuracy (AUC ~0.93)
✨ It is measurable using scalable, real-world EEG tools
✨ It shows a unique developmental trajectory, increasing with age instead of decreasing

Introduction: SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is an epileptic encephalopathy linked to mutations in the SLC6A1 gene and is characterized by early-onset seizures and developmental delays. Despite the growing recognition of SLC6A1 as a major cause of early-onset epilepsy, the e...

03/24/2026

💔 What if your child had a disease so rare… it didn’t even have a name?

That’s Maxwell.

Today, he turns 9. 🎂
And instead of asking for toys… he’s fighting for his future.

Maxwell was born with an ultra-rare genetic condition so complex doctors couldn’t even name it — but after years of relentless effort, he became the first child in the world to receive a treatment for his disease.

He’s not just fighting for himself — he’s paving the way for other kids and the only thing standing in our way is money.

🎯 Birthday Goal: $10,000

Instead of gifts, let’s give him something that matters:
💙 Hope
💙 Progress
💙 A real chance

🙏 Please donate + share.
Every dollar moves this forward. Every share matters more than you think.

Because no child should have to fight this hard just to live.

💙 Let’s show Maxwell he’s not alone.

Support SLC6A1 by donating to Mother’s Fight for Miracles: From One Child’s Hope to Ten More.

03/02/2026

💜 Join Us at Cameron & Gabe’s Run for a Cure in Chattanooga! 💜

We’re excited to share that Cameron & Gabe’s Run for a Cure is happening Saturday, June 6, 2026 at Tennessee River Park – Shelter 4 in Chattanooga, TN! This family-friendly event includes a 5K run/walk and a 1-mile fun run/walk to raise awareness and funds for research and treatment of SLC6A1, a rare neurological genetic disorder affecting children like Cameron and many others.

📍 Location: Tennessee River Park – Shelter 4, 4301 Amnicola Hwy, Chattanooga, TN 37406
🗓️ Date: Saturday, June 6, 2026
⏰ Time: 10:00 AM
👟 Activities: 5K and 1-mile run/walk (costumes encouraged!)
🎗️ Purpose: Support research and help take life-changing gene therapy from the lab to the kids who need it most.

Let’s come together — run, walk, cheer, donate, and support families in the rare disease community! 🧡

https://www.local3news.com/local-news/making-a-difference/making-a-difference-local-moms-host-fundraiser-for-rare-disease-cure-research/article_0803efee-c26d-4ea4-95b4-dca83c2ff320.html



Katie Sharp Judith Austin Amber Freed

SLC6A1 is a rare neurological condition that causes epilepsy, movement and speech disorders, intellectual disability, and a wide range of behavioral and psychiatric challenges, according to SLC6A1 Connects.

02/28/2026

Our families are proudly representing rare dLainey Moseleyties around the world 💙

Lainey Moseley’s powerful documentary, Rare: The Documentary, was recently screened at Notre Dame, followed by a meaningful panel discussion that amplified the voices of families living with rare conditions.

Grateful to see these stories shared on such an important stage.

02/28/2026

Today is Rare Disease Day 💙

We’re celebrating by inviting our community to order FREE swag! Show off your friendship bracelets, add our stickers to your computer, and start the conversation.

Because of YOU, we have treatments in patients — and we’ve come this far entirely through donations and the fierce love we have for our children.

👉Order here: https://www.classy.org/event/rare-swag/e704520

Let’s keep going. 💫

02/27/2026

Tomorrow is Rare Disease Day, and we need your support 💙

Order your free swag to help raise awareness for children living with .

We’ve already seen hope in action — our gene therapy has safely treated one patient, and we’re working tirelessly to expand the trial as quickly and as far as possible.

Every share, every conversation, every donation makes an incredible difference for our small but mighty community. Your intention and awareness truly go extra far for us.

Order here: https://www.classy.org/event/rare-swag/e704520

Thank you for standing with our kids 💛

02/24/2026

In September 2025, our community witnessed something we once only dared to hope for 💙

Amber Freed’s son became the first patient ever to receive a gene replacement therapy for SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD).

Less than seven years ago, this was just an idea. A possibility. A fight we weren’t sure we could win.

Today, it’s real.

In a powerful conversation with Abigail Pinchbeck (Editor, Cell & Gene Therapy Insights), our Founder & CEO, Amber Freed, shares:

🔬 How patient-led research helped drive progress
🧬 The rapid development of an AAV gene replacement therapy for SLC6A1

🤝 Why advocacy is reshaping rare disease drug development

This milestone belongs to our families, our researchers, our clinicians, and every advocate who refused to accept “wait and see” as an answer.

This is what happens when advocacy and science move forward together.

Read the full discussion to learn more. 💫

https://www.insights.bio/cell-and-gene-therapy-insights/journal/article/3727/advocacy-at-warp-speed-delivering-the-first-gene-replacement-therapy-for-slc6a1?utm_medium=social&utm_source=linkedin&utm_campaign

02/24/2026

We’re currently recruiting individuals with SLC6A1 to participate in an MRI clinical research study at UTSW in Dallas 🧠

⏱ Time commitment: ~2 hours
📄 Participants will receive their MRI results
📚 Contribute to an upcoming publication advancing SLC6A1 research

If you’re interested or would like more information, please email afreed@SLC6A1Connect.org

Your participation helps move research forward for our entire community 💙

02/20/2026

We should NEVER miss a chance to celebrate the incredible people in our community — especially the heroes among us. 💛

Recently, an SLC6A1 patient was in the ER during a serious emergency. Seven nurses and two doctors were working desperately on their son when Dr. Armstrong received a call — not in a hospital, but while loading car seats into her minivan. 🚗❤️

In just TWO minutes, she stepped in and resolved the situation. The family was overcome with relief and gratitude and filled with thankfulness for Dr. Armstrong’s calm, compassionate care.

Dr. Armstrong is a true angel in our community, and we are so grateful for her. 👼✨

Thank you for everything you do — your heart, your skill, your presence matter more than you know. 🙏💛

02/15/2026

A mother’s love doesn’t negotiate with fear.
It doesn’t wait for rescue.
It doesn’t calculate the cost.

She will hold her babies above the waves while she disappears beneath them.

This is what sacrifice really looks like.
This is what survival mode does to mothers.
This is the quiet, unseen bravery of women who are drowning… but still making sure their children can breathe.

Some mothers aren’t “overprotective.”
They’re fighting battles no one else sees — against chaos, danger, trauma, and systems that don’t always protect the innocent.

She’s not dramatic.
She’s desperate to keep her children safe.

And she will go under before she ever lets her baby.

02/12/2026

📣 New research on communication profiles in neurodevelopmental disorders! 🧠💬

A large new study looked at how genetic differences relate to communication abilities in 79,518 individuals with neurodevelopmental disorders (like autism and other genetic conditions).

🔍 What they did:
Researchers analyzed caregiver-reported communication skills across many genetic conditions and compared them to individuals with autism without known genetic causes.

🧬 Key findings:
• Genetics play a strong role in communication strengths and challenges.
• Some genetic conditions showed milder communication issues, while others had more significant challenges, especially with speech.
• Certain groups showed better nonverbal communication skills (like using gestures) compared with typical autism profiles.
• The study also suggests communication abilities change with age in some genetic groups.

🗣️ Why this matters:
This research could help shape more personalized speech and communication support tailored to individual genetic profiles — not a one-size-fits-all approach.

Rationale Neurodevelopmental disorders (NDDs) are characterised by significant challenges in communication, social interaction, and adaptive function, often impacting quality of life. Previous studies support genetic influences on the communication abilities of individuals with NDD, but were either....