Advocacy by the Foundation

Legal Advocacy:  Rare on the Hill 2025 Report

Board member and STXBP1 mom, Cristina Brennan, attended this year’s Rare on the Hill event sponsored by the EveryLife Foundation in Washington DC Feb 24 - 26.  The annual Rare on the Hill event teaches rare disease advocates about important federal legislation that impacts the rare disease community.  The advocates then meet with their Senators and Congresspeople to advocate for the passage of the legislation.  Please learn more about Rare on the Hill 2025 here.

Meeting with the FDA

The STXBP1 Foundation held a Patient-Focused Drug Development (PFDD) meeting, our first public meeting with the FDA, in October, 2023. This was a very special opportunity to inform the FDA of the lived experience with STXBP1 for patients and our families, and elevate our voices to emphasize the urgent need for truly impactful therapies. More than 288 people attended. We are grateful to Biogen, BioMarin, Encoded Therapeutics, and Horizon (now Amgen), for their generous partner support, and we are especially grateful to the families who so openly shared their compelling personal stories about the challenges of STXBP1 disorders. Watch the recording, read the transcripts or download our final report here.

Industry Conferences

The STXBP1 Foundation works hard to keep our presence high and involvement deep in important industry events. Some of the most important conferences are the American Epilepsy Society annual meeting and Global Genes where experts in rare genetic diseases, neurodevelopment disorders, and epilepsies unite to network, collaborate, and share research. Along with having a stand we also participate by speaking on conference panels and working with researchers on their scientific poster submissions.

Petitioning the CDC

In May 2024, the STXBP1 Foundation petitioned the Centers for Disease Control and Prevention (CDC), on behalf of our community, with a request for an ICD-10 code for STXBP1. We began our journey for this important code in 2021 to support better care for our patients today, and also help us to improve the care our patients receive in the future.  The CDC manages the ICD-10 codes and has been hesitant to issue codes for rare diseases.

We persisted.

And, our active community delivered meaningful help with over 3,000 people signing onto the letter, including over 125 clinicians and healthcare workers. Read the full details in our news story here.