Hope Through Heartbreak: Reflecting on 2025

A holiday message and end of year request from our Board President, Charlene Son Rigby

Last year, I wrote about keeping our foot on the gas pedal. In 2025, we experienced both the highest highs and the lowest lows of our journey together.

This has been a year I will never forget—marked by extraordinary scientific progress and devastating loss. Our community experienced what we've long known was possible but hoped would never happen: we lost one of our own in a clinical trial. The first gene therapy trial for STXBP1 that represents so much hope also brought us profound grief. Our community has walked through this together, holding one another up. To the family who courageously enrolled their child in that trial, we hold you in our hearts. Your bravery in pursuit of a better future for all our children will never be forgotten. 

In the wake of this loss, I've reflected deeply on what it means to Fast Forward—to push urgently toward treatments while honoring the gravity of every decision, every risk, every life. We move forward not despite this heartbreak, but informed by it, with deeper commitment to rigorous science, transparent communication, and unwavering support for our family community.

Even in this difficult year, our community collectively has achieved milestones that will serve our children for years to come:

• After a four-year advocacy journey, we secured an ICD-10 code specifically for STXBP1-related disorders. This changes everything—enabling proper diagnosis coding, improved insurance coverage, better epidemiological tracking, and enhanced visibility in healthcare systems. This is the kind of infrastructure that will serve our community regardless of which therapies ultimately succeed.

  The STARR Natural History Study reached more than 170 participants, building the robust clinical data that pharmaceutical companies and regulators need to design safer, more effective trials. The parallel European STXBP1 Consortium (ESCO) study is now recruiting, creating truly global momentum. Every data point from these studies improves our understanding of STXBP1 and helps us design better interventions.

  The STXBP1 Foundation reached $3.5 million in cumulative research funding, and this year awarded grants for three new therapeutic discovery programs: a gene therapy, a CRISPRa therapy, and a repurposed drug screen. We are not putting all our eggs in one basket. Diversification gives us “more shots on goal”, and matters more than ever.

  Our census now stands at 1,431 patients in 54 countries, reflecting both the growth of our community and our growing ability to find and connect families worldwide through STXBP1 Global Connect. Every family needs to know they're not alone.

  Eighteen therapies are now in development for STXBP1-related disorders. Yes, we've experienced a devastating setback in one program. But the breadth of this pipeline—the variety of approaches, the depth of scientific commitment—represents resilience. We learn from every trial, every study, every outcome. This is how science moves forward.

  We continue to Fast Forward STXBP1, but with eyes wide open to both the promise and the peril of this work. With eighteen therapies in development and critical research ongoing, we have urgent work ahead—work that honors both our hope and our grief. We are committed to rigor, safety and transparency.

  I ask you to donate to the STXBP1 Foundation to help us continue this essential work with both urgency and wisdom.

  Thank you to those who have already supported us this year, especially during difficult moments. 

  This year has taught us that the path to treatments is neither straight nor easy. But it has also shown us the strength of our community and the importance of persistence. Join me in making a gift that honors both our heartbreak and our hope. I am making my gift in honor of my daughter, Juno. She inspires me to keep moving forward, thoughtfully and courageously.

With profound gratitude and solidarity,
Charlene Son Rigby
STXBP1 Foundation
President + Mom

STXBP1 FOUNDATION Impact since 2017

6 Research Roundtables

$3.5M in Grants & Research Funding

7 Family Summits

$75K Patient Assistance Grants

1431 Patients identified

>18 Therapies in Pre-Clinical Development