Slc6a1 Connect

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....

02/11/2026

📢 New autism genetics study and what it means for SLC6A1 families

A large new genetics preprint analyzed spontaneous (de novo) mutations in over 41,000 families to better understand autism. The findings confirmed that rare new genetic changes — including those in the SLC6A1 gene — play an important role in autism risk and neurodevelopmental conditions like SLC6A1-related disorder.

Why this matters for SLC6A1:

• SLC6A1-NDD is caused by spontaneous variants in the SLC6A1 gene, not inherited changes.
• These mutations can lead to epilepsy, developmental delays, autism features, and more.
• Large research efforts like this help confirm that rare de novo genetic changes are real contributors to autism and related conditions, reinforcing the value of genetic diagnosis and research.

We’ll share more updates as this research progresses! ❤️

https://pubmed.ncbi.nlm.nih.gov/41646820/

Slc6a1 Connect Slc6a1 België - Belgique vzw GEN Slc6a1 Connect Italia Gène Slc6a1 France slc6a1-spain SLC6A1-Deutschland Asociación SLC6A1-Spain Arthur's Quest Rare Epilepsy Network: REN

02/11/2026

This beautiful baby girl just turned ONE year old — only days after Christmas 🎂🎄 — Instead of planning milestones and memories, her family is fighting for her future.

She is fighting an ultra-rare genetic condition called SLC6A1, so rare it's only known by the genomic location. Most doctors have never have or ever will see it. But this little girl lives with it every single day.

💔 Lily deserves a life full of laughter, learning, and love — not hospital rooms and uncertainty.

But here’s the hopeful part: a treatment exists.
The drug that could help her is already made and sitting in a refrigerator but it can’t reach her without funding.

✨ A generous donor has pledged to match up to $750,000 meaning every dollar you give is doubled. Your impact literally goes twice as far to save lives.

💛 Every gift matters — even $5.

🙏 If you can't give, then please SHARE this message — because spreading the word could connect us to someone who can help.

📢 Your share. Your donation. Your kindness. It all brings hope.

If you’re reading this, you are exactly the person who could help change her life. She is loved, she is fighting, and she deserves a chance.

Please help if you can. 💗🙌

Fight for Lily’s Future

02/10/2026

Excited to share that Emily Ann Haus, Maria Nelson and Amber Freed will be attending this upcoming event at University of Notre Dame and will be joining the panel discussion afterward.

It’s inspiring to see how Notre Dame is helping lead the next wave of rare disease leaders, and I’m truly energized by the passion and innovation coming out of this community.

If you are in the area, please come see us!

https://t.e2ma.net/message/qam8ch/ygcb4lq