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.

PPM1D

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

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What Families Need to Know About Genetic Testing

Pediatricians may recommend a genetics consult or genetic testing for a child. This article from…

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Understanding Rare Chromosome and Gene Disorders

You might despair at the lack of information about your own or your child’s disorder or…

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Boy in a wheelchair next to a lake

Original Paper on Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold

Featured in

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Child coloring

Learning & JdVS

Each individual with JdVS is unique and may need additional supports within the learning environment.…

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Avery by Marta Ales

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

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Kid on a dirt trail riding his bike

Guidance from a Teacher

Recommendations for Educators Teaching a student with JdVS is truly a once in a lifetime…

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Baby in a swimming pool, floating on their back

Guidance from a Physical Therapist

What makes JdVS kids unique? Navigating the unique presentation and combination of underlying complexities is…

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Dr. Lachman’s iPS Cell Research at Einstein Medical

Dr. Herbert Lachman, a scientist at the Albert Einstein College of Medicine, and a JdVS…

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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

Featured in the American Journal of Human Genetics.

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Common Physical Attributes Associated with JdVS

Other names: PPM1D, IDDGIP Small hands and feet Hypoplastic nails Short stature Broad forehead Low-set…

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