By uniting families and sharing stories we support newly diagnosed families looking to connect with others. Creating community together, we will look to each others’ shared experiences to help us navigate this uncharted territory.
Connect with providers who have treated JdVS individuals, learn what works and share success stories. Hear from a variety of specialists who have a unique understanding of how JdVS individuals learn best.
Through fundraising and grant efforts, we will work to provide researchers the resources necessary to gain a better understanding of the PPM1D mutation and develop potential treatments and therapies to ultimately improve the lives of those living with this rare genetic condition.
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Together climbing mountains.
Stories that inspire
You are not alone - learn more about the families and children currently living with Jansen de Vries Syndrome.
About Mollie: An answer after 42 years When Mollie and her family found out in February of 2021 that she has Jansen de Vries Syndrome, a 42-year mystery was solved. Prior to this unexpected news, her diagnosis was Cyclic Vomiting Syndrome (CVS) and undiagnosed global developmental delay. Mollie was a year and a half old…Read Story
About Uzziah We are excited to introduce you to Uzziah! Uzziah and his family joined the JdVS community in 2019 after being diagnosed by a member of the JdVS Medical Advisory Board Dr. Cynthia Curry. He shares his diagnosis with other family members, meaning his mutation is not de novo. Like many individuals with JdVS,…Read Story
About Daniel Daniel is 12 years old. He lives with his dad, mom, and older sister. He loves to see his grandmother Lena every day and has many family members in South Africa and Australia. Early Years Daniel was born at term after an uncomplicated pregnancy. Still, his parents and the medical team knew right…Read Story
About Wells Wells was born at thirty seven weeks to his mother, Rachel. The pregnancy was mostly normal, except for excess amniotic fluid. Healthy at birth, he was discharged after two days in the hospital. At twelve weeks, Wells underwent surgery for three hernias. Around three months, Wells was diagnosed with laryngomalacia (underdeveloped vocal cords) which…Read Story
Noah’s Story Over Noah’s first 4.5 months his mother Nicole spent countless hours and sleepless nights contemplating the cause of the myriad of symptoms that he was having. The twins were born at 37 weeks and 2 days and Noah did not require any time in the NICU. Over the next several weeks to months…Read Story