Resources
Hope is on the horizon for JdVS families.
We hope you find these resources useful and continue to check back as we add to this evolving library.
Our Mission
Raising Hope, Together.
What is JdVS?
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!
About JdVS and the PPM1D Gene
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.
Start Here
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
What Families Need to Know About Genetic Testing
Pediatricians may recommend a genetics consult or genetic testing for a child. This article from the Journal of the American Medical Association reviews what families need to know about genetic tests.
Understanding Rare Chromosome and Gene Disorders
You might despair at the lack of information about your own or your child’s disorder or that the disorder hasn’t even got a ‘proper’ name. Whatever your feelings and emotions, we know how much it can help to talk to people who understand what you are going through and who even know what you are talking about. You are not alone.
What Families Need to Know About Genetic Testing
Pediatricians may recommend a genetics consult or genetic testing for a child. This article from the Journal of the American Medical Association reviews what families need to know about genetic tests.
Understanding Rare Chromosome and Gene Disorders
You might despair at the lack of information about your own or your child’s disorder or that the disorder hasn’t even got a ‘proper’ name. Whatever your feelings and emotions, we know how much it can help to talk to people who understand what you are going through and who even know what you are talking about. You are not alone.
What Families Need to Know About Genetic Testing
Pediatricians may recommend a genetics consult or genetic testing for a child. This article from the Journal of the American Medical Association reviews what families need to know about genetic tests.
Understanding Rare Chromosome and Gene Disorders
You might despair at the lack of information about your own or your child’s disorder or that the disorder hasn’t even got a ‘proper’ name. Whatever your feelings and emotions, we know how much it can help to talk to people who understand what you are going through and who even know what you are talking about. You are not alone.
What Families Need to Know About Genetic Testing
Pediatricians may recommend a genetics consult or genetic testing for a child. This article from the Journal of the American Medical Association reviews what families need to know about genetic tests.
Understanding Rare Chromosome and Gene Disorders
You might despair at the lack of information about your own or your child’s disorder or that the disorder hasn’t even got a ‘proper’ name. Whatever your feelings and emotions, we know how much it can help to talk to people who understand what you are going through and who even know what you are talking about. You are not alone.