Our Mission
Our mission is to accelerate comprehensive research on Weaver syndrome and to empower affected families through information, education, and a great community.
We support this mission by focusing our efforts on initiatives that:
- Advance research to improve care, treatment, and quality of life for individuals with Weaver syndrome
- Raise awareness and deepen understanding of Weaver syndrome
- Empower, connect, and support individuals and families living with Weaver syndrome
- Foster collaboration between medical professionals, researchers, and the patient community
Our Story
The Weaver Syndrome homepage was launched in 2025, a little over a year after our daughter was finally diagnosed with Weaver syndrome at the age of 9 months. At the time of her diagnosis, we could only find around 48 known documented cases worldwide.
Naturally, we found ourselves with very little information. Google searches brought up vague or confusing results, and we struggled to find reliable answers—or any sense of what the future might hold.
One of the most challenging parts of receiving the diagnosis was the feeling of being completely on our own. We had no idea what to look out for, which therapies might be important, or what kinds of medical checkups would be necessary. Even our pediatrician had never encountered a child with Weaver syndrome before, nor did they have any additional information for us. It felt like being dropped into a jungle without a map.
Thankfully, we soon discovered the closed Facebook group for affected individuals and families. The exchange of experiences and the connections we made there were—and still are—incredibly helpful and encouraging.
Still, we often found ourselves wishing for more—more structured information, more guidance, and a place that could offer a clearer overview.
That’s why we created this homepage: to offer a space where individuals and families affected by Weaver syndrome can find clear, accessible information, connect with others, and hopefully feel a little less overwhelmed.
Beyond that, the goal is to help build bridges—between affected individuals and families, medical professionals, and researchers. We believe that real progress—whether in understanding, support, or treatment—can only happen when these communities come together and grow together.
At the moment, this is a personal initiative—born from the experience of one family and created with the hope of helping many others.
Nevertheless, in the near future, we truly hope to grow this initiative—with you—into something much larger: something that brings together even more voices, builds stronger connections, and contributes to greater awareness, research, and support.
For now, we hope this page will serve as a helpful and hopeful starting point for all those navigating this rare diagnosis—day by day.
