This December, our family had the privilege of attending our second Cure SYNGAP1 conference in Atlanta, Georgia. Walking this journey alongside our son Camden, the conference felt like both a reflection of how far we have come and a glimpse into what lies ahead. It reminded us why this community matters so deeply and why hope feels more tangible now than ever before.
Returning for a second year carried a different weight than our first visit. Last year, we arrived overwhelmed and unsure of what to expect. This year, we walked in with anticipation. Familiar faces greeted us, hugs came easily, and conversations picked up where they had left off. The emotions were still intense, but they were steadied by connection, confidence, and the comfort of knowing we were surrounded by people who truly understand this life.
A Community That Understands Instantly
Families come to the Cure SYNGAP1 conference from across the country and around the world, and they all just get it. No explanations are needed. They understand the daily struggles, the constant uncertainty, and the fears that quietly sit in the background. Many have older children who have already walked paths we are only beginning to approach, and their guidance is invaluable. Their empathy is immediate, and their presence feels like an anchor in the storm.
Watching other parents interact with Camden was one of the most meaningful parts of the weekend. For once, we did not feel ourselves holding our breath. If Camden became overwhelmed or frustrated, they knew how to respond. There was no judgment, no confusion, and no need to apologize. Being able to simply breathe in those moments felt like a gift.
And Camden loved every second. He performed, he communicated, he entertained, and he filled the room with his spark. The other parents were the perfect audience, warm and encouraging. Seeing him shine through their eyes reminded us to step back and appreciate the abilities he works so hard to show us. We spend so much time buried in therapy schedules and developmental goals that we forget how far he has come. This weekend helped us celebrate the progress that is so easy to overlook in the day to day grind.
Wisdom From Those Who Walked Before Us
Meeting families face to face after months or years of messages, calls, and online support was deeply emotional. Hugging people who have held us up from afar felt like embracing old friends. These relationships are built on shared battles and shared hope, and they are a gift we never expected to find.
Parents of older children also stood before the room and shared their journeys. They spoke openly about hard behaviors, impossible decisions, and the emotional toll of raising a child with SYNGAP1 related disorder. Their honesty left many of us in tears. SYNGAP1 can create challenges that push every limit a parent has. Hearing from families who have lived through those moments and found a way forward brought comfort and strength. Their willingness to share reminded us that we are not alone and that there will always be someone ahead of us willing to reach back and steady our steps.
The Science and the People Behind It
The research presentations strengthened that sense of hope. Hearing directly from scientists whose work has shaped our understanding of SYNGAP1 was both humbling and inspiring. Dr. Richard Huganir, whose laboratory at Johns Hopkins helped define the role of the SYNGAP1 gene, shared insights drawn from decades of foundational research. His work laid the scientific groundwork that makes today’s therapeutic efforts possible.
We were also honored to hear from Professor Ingrid Scheffer, a global leader in pediatric neurology and epilepsy. Her career has transformed how genetic epilepsies are recognized, classified, and treated. Listening to her speak with such clarity and purpose reinforced how far the field has come and how much expertise stands behind the progress we are seeing today.
Equally encouraging was the presence of many other researchers, including early career scientists choosing to invest their talent and curiosity in SYNGAP1. Seeing established leaders and emerging researchers in the same room felt powerful. It was clear that the legends of neurology were not only sharing data, but inspiring the next generation to push forward with us. Knowing that more bright minds are dedicating their careers to our children gives us tremendous hope.
Building Momentum: The Therapies That Give Us Hope
The momentum continued with updates from Lundbeck and Praxis, both of which are working on seizure medications aimed at reducing seizures in several developmental and epileptic encephalopathies. Praxis shared details about their Emerald study, which is testing Relutrigine. While the molecule itself is promising, what stood out most was the study design. Praxis understands the realities of families raising medically complex children. Their approach allows participation from home and brings study staff directly to families. This level of consideration is rare and costly, and it shows that families are finally being heard.
Camp4 shared progress on their antisense oligonucleotide therapy, which remains on track to begin human clinical trials in the second half of 2026. GLP toxicology studies are underway, and their commitment to SYNGAP1 was unmistakable. They spoke to us not as data points, but as families. The care and dedication they showed resonated deeply throughout the room.
Leaving With Determination
When the conference ended and we began our trip home, one feeling rose above all others: determination.
Progress in rare disease research is accelerating, and the momentum is real. Our time is not some distant future. It is taking shape right now. We returned home with renewed comfort knowing our community is walking beside us, researchers are fighting for our children, and companies are listening and designing treatments with our lives in mind.
The connections we felt throughout the weekend reminded us that we are part of something powerful. SYNGAP1 families are fierce, resourceful, and driven by a kind of love that never quits. Their strength lifts us all.
Families who came before us pushed for recognition, demanded research, and fought to open doors that had never existed. They had to move mountains just to be seen. Now, thanks to them, we are climbing, and you might say we have made it to Camp4.
The view from here is full of hope. For the first time, we can see the summit.
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