You Just Got a Diagnosis.
You Are Not Alone.
Receiving an OPHN1 diagnosis can feel overwhelming, isolating, and uncertain. We've been there too. This page gives you a clear place to start — with community, information, and reasons for hope.
See Your First StepsFrom families who have walked this path: The early days after a diagnosis are the hardest. Information is scarce, emotions run high, and the future feels uncertain. The OPHN1 Foundation exists because parents like us refused to face this alone — and we refuse to let you face it alone either. We are actively working to access therapies for our family members affected by OPHN1 variants.
Where to Begin
Your First Steps After Diagnosis
Follow these steps at your own pace. There is no rush and no wrong order. Each step connects you more deeply with information, community, and the research your family deserves.
Take time to feel and process
A rare neurodevelopmental disorder diagnosis like ours can be scary, overwhelming, and isolating — but please know you are not alone. There is grief in this moment, and that grief is valid. The OPHN1 Foundation is here to help with some of the unknowns, and we are actively working to access therapies for our family members affected by OPHN1 variants. There will be time for action. First, breathe.
Register your family with the OPHN1 Foundation
Sign up through the OPHN1 Community Contact List to register your family with the Foundation. This allows us to communicate with you about clinical trials, research opportunities, and family events — and to connect you with other OPHN1 families around the world who are navigating this same journey.
Complete the Treatment Priorities Survey
Tell us what your biggest concerns are so that we can make sure we are pursuing therapies to address our greatest needs. Common priorities from our families include seizure control, behavioral management, and addressing learning and communication challenges. Your voice shapes our research agenda.
Join our private Facebook community
Join our private Facebook group to read and share the experiences of families living with OPHN1 variants. You will find support, practical wisdom, and families from across the world navigating the same diagnosis. This community is safe, moderated, and open only to OPHN1 families.
Complete the CoRDS patient registry
The CoRDS Patient Registry is a more in-depth collection of symptoms and health history used by researchers to better understand OPHN1. Enrolling builds the foundation of scientific knowledge that will drive clinical trials and treatment development. You control who sees your data — you can specify exactly which researchers may access your information.
Review and bookmark our website
Our website is a living resource for your family. Return to the Families page for clinical features, care information, and research updates. Explore The Science to understand the biology underlying OPHN1 Syndrome. Bookmark ophn1.com as your home base for everything OPHN1.
Our Community
What You'll Find in the OPHN1 Community
You are joining a global community of families who understand your diagnosis and are working together to change its future.
Global Families
Families from the US, UK, Europe, and Australia. You are joining a worldwide community united by the same diagnosis.
Active Research
The Foundation is actively pursuing safety data for Fasudil, a ROCK inhibitor with preclinical rescue data in OPHN1 mouse models.
Practical Guidance
Families sharing what works for therapies, school supports, seizure management, and navigating the medical system with a rare diagnosis.
Questions? We're Here.
You don't have to figure this out alone. Reach out to the OPHN1 Foundation directly — we are parents and caregivers too, and we'll do our best to point you in the right direction.