Are you close to someone newly diagnosed? Facing a new diagnosis (especially a rare disease with little information/research) can be isolating and confusing, but having answers can also be the start of a new path to success.
There are many ways friends, family, and loved ones can reach out and support families going through this transition. Consider making a meal for a newly diagnosed family, offering childcare, or getting involved with our foundation to show you care!
Genes are complicated. This document was created for parents/caregivers of an individual diagnosed with JdVS, by parents who were once in your shoes, in an effort to make it easier to understand.
The Human Disease Gene Website is an online library that contains clinical information regarding specific genes and copy number variants. Developed by researcher Bert de Vries and his colleagues, additional professional information regarding the PPM1D gene can be found on the site.
We aim to offer resources and support for families, friends, specialists, and educators to provide guidance on caring for those with JdVS.
This book was inspired by one of our beautiful JdVS kiddos! Avery by Marta AltésView Resource