Resources
Guidance for families and clinicians.
We hope you find these resources useful and continue to check back as we add to this evolving library.
Our Mission
Raising Hope, Together.
Start Here
Facing a rare diagnosis can be isolating and confusing, but having answers can also be the beginning of a new path forward. This section gathers practical starting points for families, caregivers, and medical professionals.
Genes can feel complicated. The family-friendly Genetics 101 document and the Human Disease Genes resource are good places to begin.
Featured Resources
These are the most important resource pathways currently available in the rewrite.
Treatment Guide for Families
A practical family-facing overview of evaluations, therapies, and ongoing care considerations.
Clinical Considerations
A clinician-friendly summary of system-based evaluations and treatment considerations for JdVS.
NIH and PubMed Articles
Browse a curated list of publications and research materials connected to JdVS and PPM1D.
Resource Library
Additional resources from the database can live alongside the foundation's featured guides.