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This morning, we got to meet with a very special company and one of our CURE GABA-A conference sponsors—Trialport. ❤️ A team that cares deeply about what they’re doing and why they’re doing it.

We first connected with Trialport at the Global Genes conference in Boston and had the opportunity to meet with their team in Atlanta today. Keith and his awesome team took the time to listen to our story, ask thoughtful questions, and share their passion for creating meaningful connections in the medical space.

Trialport helps people explore clinical trials with greater clarity and confidence. Their platform makes complex study information easier to understand and helps families consider whether a trial might be medically relevant AND fit into their everyday lives. When they’re ready, people can choose to connect directly with the study team.

As a family who knows how much hope, uncertainty, and decision-making can come with a clinical trial, this mission means so much to us. A clinical trial has been what has changed Charlie’s life starting a year ago two days from now. ❤️ Families deserve understandable information and the space to make their own informed decisions. ❤️

Thank you, Keith and the Trialport team, for listening, caring, and supporting our CURE GABA-A community. We’re so grateful for these connections and the people working to make the clinical research journey easier for families like ours.

Trialport- “Understanding comes first. Decisions follow.” ❤️

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YOU!!!! YOU WOULD MAKE OUR DREAMS COME TRUE! ❤️❤️❤️

3 years ago this conference changed our LIVES ❤️❤️❤️ please come join us and have your life changed by meeting other families like you, the amazing people working towards life changing therapies and medicines for your child. This is REAL! 🥰❤️👏🏻

Come join us for the 2026 CURE GABA-A Family & Scientific Conference in Orlando! 💙💜

📅 November 5–7, 2026
📍 Hyatt Regency Orlando
9801 International Drive, Orlando, FL 32819

These three days are a chance to meet other families, connect with scientists and researchers who study GABA receptor disorders, share experiences and resources, and hear about the research moving our community forward.

✨ Thursday, November 5: Disney Day for families
💙 Friday, November 6: Family meeting to connect and support one another
🔬 Saturday, November 7: Scientific meeting with research, clinical updates, and future possibilities

We would love for you to join us. Families, scientists, real progress—together! 💜

Conference registration: curegabaa.org/event/2026conference/
Disney Day tickets: disneyevent.com/curegaba2026

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Let’s do some DID YOU KNOWS? ❤️

🧬 What does “de novo” actually mean?

De novo means “new.”

When a genetic variant is de novo, it means the change is present in the child but was not found in either parent’s tested DNA. The genetic change can happen in an egg or sperm cell, or very early after conception.

For Charlie, his GABRA2 variant is de novo. Neither Mom nor Dad has his specific variant — it occurred as a new genetic change in him.

De novo variants happen naturally and randomly. They aren’t caused by something a parent did or didn’t do.

And while Charlie’s genetic change may have started with him, understanding exactly how that change affects his GABRA2 gene can help researchers learn more about his disorder and, we hope, move us closer to treatments. 🧬💙

The more we understand the genetics, the more we understand where to look for answers. ❤️

Keep following for more #DIDYOUKNOW @curegabaa

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Heading home after an intense, very busy and absolutely fabulous few days at the European Epilepsy Congress (EEC2026) in Athens 🤩

Epilepsy care is teamwork, and I have the impression that our community is stronger than ever 💪

What makes meetings like EEC so special is seeing the full epilepsy ecosystem come together: neurologists, geneticists, neuropsychologists, neurophysiologists, nurses, neuroscientists, pharma, patient advocates, and many other disciplines from all over the world 🌍

Different perspectives, shared challenges, new ideas, and most importantly, a shared ambition to move epilepsy care and research forward 🚀

I am incredibly proud of our fellows and PhD students, who contributed to the scientific program with excellent talks and poster presentations. Seeing the next generation of epilepsy researchers step up, share their work, and engage with the international community is one of the real highlights of meetings like this 😍👏

It’s a privilege to be part of such a strong community, and honestly, if even half of the ideas and plans discussed over these past few days become reality, we are going to make a real difference 🤩

So many great conversations and reunions with the team from @ern_epicare, ECET - European Consortium for Epilepsy Trials, the @curegabaa and #SYNGAP1 communities, old fellows, colleagues, friends, and many, many more❤️

Leaving with a full head, a full calendar, and a lot of excitement about what comes next.

See you in Amsterdam in 2027 🇳🇱

#EEC2026 #Epilepsy #Genetics #EpilepsyCare

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Desde AUDER tuvimos el placer de participar en la Audiencia Pública “Hacia una agenda regional para la inclusión, el acceso a la salud y la eliminación del estigma”, organizada por la Comisión de Ciudadanía y Derechos Humanos del Parlamento del MERCOSUR.

Nuestra integrante de Comisión Directiva, Agustina Fernández @agusferg , participó en representación de AUDER y CURE GABA-A @curegabaa compartiendo este espacio con líderes y representantes de distintas asociaciones de pacientes con epilepsia de la región.

Fue una instancia muy valiosa para intercambiar experiencias, fortalecer vínculos y avanzar en una agenda regional que promueva el acceso a la salud, la inclusión y la eliminación del estigma asociado a la epilepsia.

Desde AUDER celebramos estos espacios de diálogo y cooperación, fundamentales para seguir visibilizando las necesidades de las personas con epilepsia y sus familias.

#Epilepsia #AUDER #CUREGABAA #PARLASUR #MERCOSUR Inclusión AccesoALaSalud

💙🤍💛

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Huge congratulations to Susan Lin and all the other fabulous fellows who graduated from the BRIDGE – Translational Excellence Programme today 🎉

BRIDGE, funded by the Novo Nordisk Foundation, is a unique postdoctoral programme at the University of Copenhagen that aims to bridge basic biomedical research, clinical practice and the life science industry, helping young researchers translate discoveries into better treatments for patients.

During her BRIDGE fellowship, Susan has been investigating developmental and epileptic encephalopathies caused by genetic variants in the #GABRB3 gene, which encodes the β3 subunit of the #GABAA receptor.

She has worked incredibly hard on developing and studying neuronal models in the lab, while also investigating, together with Sebastian Ortiz De la Rosa, which antiseizure medications work best, and which may work less well, in GABAA-receptor related epilepsies.

It has been an absolute pleasure to mentor Susan together with Zeynep Tumer and Jakob Balslev Sørensen. We are incredibly proud of what she has accomplished so far and, fortunately, we don’t have to say goodbye just yet! We are very much looking forward to continuing our work and collaboration 🤩

Congratulations, Susan 👏🤗🎉

#Epilepsy #Genetics #ProudMentor

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Celebrating Charlie’s birthday has always been very hard for me. ❤️

I know that might sound strange, but for a long time, each birthday felt like a reminder of the milestones Charlie wasn’t hitting.

I remember when Charlie was first diagnosed. The geneticist knew almost nothing about what his future would look like, and I remember telling my dad, “Oh, I think he might walk at 2.”

I put a timeline on it. An expectation.

And when Charlie didn’t walk at 2, I was heartbroken.

Slowly, over the years, I started releasing the expectations, the timelines, and the idea of when things were “supposed” to happen.

Instead, I started focusing on giving Charlie every opportunity to become the very best version of himself—with no expectations attached. Just loving him exactly as he is, while still fighting every single day to give him every opportunity possible. ❤️

It’s a constant balance.

Then, when I realized how far CURE GABA-A had come toward developing therapies for our kids—and that funding was such a critical part of continuing to move that work forward—I thought:

Okay. Let’s take something that has always been hard and turn it into one of the BEST days ever.

Instead of focusing on what Charlie can’t do, let’s celebrate everything he is SO incredibly good at.

Loving people.
Giving hugs.
Smiling.
Bringing joy. ❤️

And bringing people together.

Because if there is one thing Charlie has always had an incredible ability to do, it is bring people together.

So we invited EVERYONE. ❤️

And then came this moment.

A moment I almost didn’t let happen.

I was worried about singing Happy Birthday. Charlie can’t eat the cake. There are parts of a “typical” birthday celebration that can still bring up those feelings for me.

But I let go.

And WOW. 😭❤️

450 people sang Happy Birthday to Charlie.

Standing there, hearing an entire gym full of people sing to our sweet boy, I realized what a gift this was.

You helped us recreate what birthdays mean for Charlie—and what they mean for our family.

They don’t have to be about what Charlie can’t do.

They can be about ALL THAT HE CAN DO.

We love you ❤️

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We’re still taking in all the love, joy, and generosity from Charlie’s Birthday Bingo Bash. ❤️

We are SO excited and incredibly grateful to share that together we raised…

🎉 $49,371!!! 🎉

This is more than we ever could have imagined. WE ARE BLOWN AWAY AND SO GRATEFUL Every dollar raised is going directly toward Charlie and CURE GABA-A research and the development of potential treatments for children with GABA-A receptor disorders—including mRNA and ASO programs.

To every person who came, donated, volunteered, sponsored, bought a shirt or raffle ticket, contributed a prize, shared our event, prayed for us, or supported us from afar—THANK YOU.

From the Bottom of Our Hearts… ❤️

This past Saturday, you helped us raise funds for research, but most of all, you showed Charlie and our family just how deeply we are loved.

Charlie may not be able to tell you himself what Saturday meant, but if he could, we think he would say:

Thank you for showing up. Thank you for celebrating with me. Thank you for BELIEVING that my life—and the lives of kids like me—are worth fighting for. ❤️

To every person who attended, donated, volunteered, sponsored, contributed a prize or baked goods, helped behind the scenes, shared our event, prayed for us, or supported us from afar—thank you.

You weren’t simply attending a birthday party or fundraiser. You became part of Charlie’s story and part of something we believe can truly change the future for children with GABA-A disorders.

We will never forget seeing that gym filled with people we love, celebrating our sweet boy. ❤️

From the bottom of our hearts, thank you for making Charlie’s 6th birthday so incredibly special. 🥰❤️

With so much love and endless gratitude,

The O’Connor Family
Lisa, Ty, Jack & Charlie ❤️

PS MARK YOUR CALENDARS FOR AUGUST 2027 We Hope to bring the community together again at our next CHARLIE’S BIRTHDAY BINGO BASH ❤️🥰

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A beautiful morning of Mahjong, community & giving back is coming to Malibu. 🀄️🌊✨

Join us for a Mahjong Malibu Morning, this special event is benefiting Cure GABA-A and supporting innovative research and therapies for children affected by GABA-A gene variants.

818 MAHJ is bringing the tables, the tiles and the Mahjong experience for a morning filled with connection, brunch, bubbles and meaningful impact, all set against the beautiful backdrop of Malibu.

🤍 Saturday, August 22
🀄️ 10:00 AM–1:00 PM
🥂 Brunch, bubbles & sweet treats included
📍 Malibu, California
🎟 $100 per player | $300 per table of four

Come with your Mahjong group or join a table and meet someone new. This is everything we love about Mahjong, gathering around the table, connecting with one another and playing for a purpose.

Spaces are limited for this open play Mahjong event.

Mahjong tablescapes by @818mahj
Benefiting @curegabaa

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Happy 6th birthday Charlie!! Yesterday over 400 people gathered to celebrate this special boy who loves giving lots of hugs. Charlie’s birthday bingo bash held at Pinecrest Academy was a successful fundraiser for the GABA-A community. Fun and fellowship was enjoyed by all!

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A little piece of our hearts from yesterday. ❤️

Ty and I had the opportunity to share a little of our journey, why we were all there, and most importantly, to say thank you.

Because Charlie’s story has never just been ours. So many of you have walked alongside us through the hardest moments, celebrated the biggest victories, prayed with us, loved our boys, and continued to show up again and again. ❤️

Looking out and seeing a room full of people there to celebrate Charlie and support CURE GABA-A was overwhelming in the most beautiful way.

We will never be able to fully put into words what this community means to us.

Thank you for loving Charlie.
Thank you for believing in him.
Thank you for showing up.
And thank you for helping us fight for a future filled with more answers, more treatments, and ultimately a cure. ❤️🧬

This is our why. This is Charlie. And we are so grateful you’re on this journey with us. ❤️

#CHARLIESBIRTHDAYBINGOBASH ❤️ #CUREGABAA

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I make this reel and I’m tearing up. Wow. WOW. Wow. We are in shock. In all the amazing, beautiful, wonderful ways. We can’t put into words the gratitude for the community who showed up for us. ❤️ for Charlie for our family. THANK YOU THANK YOU ❤️

We can’t even 🤯❤️ the community of LOVE SUPPORT KINDNESS from the committee of friends and family who helped me plan since May, to the high school volunteers that hit it out of the park in kindness and willingness to help, to every single person who helped get things, set up, clean up, prizes, banners, to EVERYONE. You are making a DIFFERENCE. And we are SO GRATEFUL. We couldn’t have pulled this off without every single one of you and the way God truly sent each person to me as I needed them 🤯 mind blown with the beauty. The promise we are not alone ❤️🥰🤯

We WILL get a gene therapy and we WILL CURE GABA-A for every child. I have so much hope and faith with the support of this community behind us right here it WILL happen ❤️🥰 Here’s to CHANGING THE WORLD for all children ❤️🙏🏻🥰 WE CAN DO THIS!!! ❤️❤️❤️

THANK YOU.

Donations still coming in will update soon final number❤️ mind already blown 🤯

Thank you to our sponsors ❤️😭🥰 @pinecrestacademy1993 @alessiospizza @sunshinegoodss @crescent.coffee.ga @scottsdale_farms @dreamers.health @nancy_adtvhost @emilywiltdesigns @themilkshakefactory @laurendavisphotog @barrelandbladebarbershop @the.groutmaster @woodhouseavalon @manorgcc

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