Hope is on the horizon for JdVS families.
Building a community. Spreading awareness. Supporting research. Uplifting families.
A hub for research, support, and hope.
The Jansen de Vries Syndrome Foundation is a nonprofit organization created to provide support and a sense of community to families touched by a JdVS diagnosis.
We are focused on education, practical resources, and stronger connections between families, researchers, and medical professionals. Through fundraising and grant efforts, we also work to expand research into the PPM1D mutation and future therapies.
What We Do
Support newly diagnosed families.
Share trusted resources for families and clinicians.
Fund and encourage research.
Raise awareness so more families can find answers sooner.
Support
By uniting families and sharing stories, we help newly diagnosed families connect with others and navigate unfamiliar territory together.
Resources
We connect families and providers with tools, guidance, and examples of what has helped individuals with JdVS thrive.
Research
Fundraising and partnerships help researchers better understand PPM1D and explore treatments that can improve quality of life.
Advocacy
We work to put JdVS on the map by increasing awareness, strengthening community, and helping more families get connected.
Featured Pathways
Start with the section that matches where you are right now.
Learn About JdVS
Understand the syndrome, the PPM1D gene, and common questions families ask early on.
Explore Resources
Find materials for patients, caregivers, and medical professionals in one evolving library.
Join the Community
Connect with other families, read stories, and stay close to the growing JdVS network.
Stories That Inspire
Family stories are a powerful reminder that support, progress, and joy can grow alongside diagnosis.
Meet Uzziah
Uzziah and his family joined the JdVS community in 2019 after diagnosis by Dr. Cynthia Curry. Like many individuals with JdVS, he experienced delays in milestones, feeding issues, seizures, and short stature.
With early intervention and strong family support, he continues to make great progress.
Meet Ryan
Ryan's family has helped raise awareness by sharing his story, his path to diagnosis, and the support shown by his school community.
His story is a reminder that awareness often starts with one family choosing to speak up.
Meet Noah
Noah's family spent months searching for answers before genetic testing identified JdVS. Their story reflects the uncertainty many families face before a diagnosis finally brings clarity.
That clarity does not remove every challenge, but it can open the door to a stronger plan and a stronger community.
