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!
Start Here
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.
Resources
We aim to offer resources and support for families, friends, specialists, and educators to provide guidance on caring for those with JdVS.
Audience
What Families Need to Know About Genetic Testing
Pediatricians may recommend a genetics consult or genetic testing for a child. This article from…
Understanding Rare Chromosome and Gene Disorders
You might despair at the lack of information about your own or your child’s disorder or…
Template for a JdVS Introduction Letter
Sharing your own or your loved one’s JdVS diagnosis and the unique characteristics associated with…
PPM1D Related Publication (June 2022)
Dr. Herbert Lachman, a member of the JdVS Medical Advisory Board is a co-first author…
Learning & JdVS
Each individual with JdVS is unique and may need additional supports within the learning environment.…
JdVS/PPM1D Publications
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families…
Ideas for Explaining Your Child’s Differences to Them or Their Siblings
This book was inspired by one of our beautiful JdVS kiddos! Avery by Marta Altés
Guidance from a Teacher
Recommendations for Educators Teaching a student with JdVS is truly a once in a lifetime…
Guidance from a Physical Therapist
What makes JdVS kids unique? Navigating the unique presentation and combination of underlying complexities is…
Genida
Like many Rare Diseases, there is insufficient medical information about JdVS. Some of the JdVS…
