Slc6a1 Connect

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

02/07/2026

In September 2025, our founder Amber Freed’s son made history as the first person to receive a gene replacement therapy for SLC6A1-related neurodevelopmental disorder and this is simply the beginning of great things for the community. Cell & Biosights sat down to speak with Amber about this remarkable advocacy journey as well as the power of patient and advocate voices in healthcare, and what it takes to bring a gene therapy for a rare disease from idea to reality in record time.

👉 Read the full interview here.

“We have now de-risked the SLC6A1 transgene and generated human data. That opens the door to many new research opportunities. Someone had to take that leap of faith, and now the data exist”In September 2025, patient-advocate Amber Freed’s son made history to become the first patient to receive...

02/04/2026

💜💜We are overwhelmed with gratitude for the outpouring of support for BABY Lily and her family in just the past 24 hours. The tiniest baby to ever be diagnosed.💜💜

Because of this incredible community, awareness of SLC6A1 is spreading — and together we’ve raised over $27,000 to accelerate research and hope for Lily and every child and family affected by this rare neurological condition.

This moment is just the beginning. At Slc6a1 Connect, our mission is to improve lives and advance scientific progress toward treatments and cures for — and it’s families like Lily’s, surrounded by people like you, who make that work possible.

Thank you to everyone who has shared posts, donated to Lily’s fundraiser, sent kind messages, and shown up with love and encouragement. Your voice helps spread awareness, your actions make research possible, and your support brings hope to countless families.

Please keep sharing and helping us raise awareness for SLC6A1 — together, we are changing what’s possible. 💜

👉 give.classy.org/LilyStrong

Amber Freed Kimberly Fry

02/04/2026

Incurable is unacceptable. For families, hope is not optional—it’s essential. We push research forward until ‘incurable’ is no longer part of the conversation.

We are driven with hope and fueled with science.

01/26/2026

Meet beautiful baby Lily 💕

Lily has been diagnosed with SLC6A1, making her the youngest diagnosis we know of. While the road ahead may be unexpected, Lily has more hope than ever for a bright future.

Her community has already wrapped around her family with love, strength, and support — and that makes all the difference.

Go Lily! We’re all cheering you on. 🌈✨

Fight for Lily’s Future