Jansen de Vries Syndrome Foundation

Our Mission

Raising Hope, Together.

The Jansen de Vries Syndrome (JdVS) Foundation is a nonprofit, tax-exempt organization as defined in section 501(c)(3) of the Internal Revenue Code and, as such, contributions to JdVS Foundation are tax-deductible. Donations will go towards the mission of providing support and a sense of community to families touched by a JdVS diagnosis.

We are focused on providing education and resources to both families and medical professionals. Our goal is to raise awareness about this rare genetic condition and unite families, researchers, and medical professionals through the facilitation of a patient registry program.

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.

Board Members

Kara Kilroy

When Kara’s son was diagnosed with JdVS in November of 2017 she was handed the one article published on the disorder, a mere 9 months prior to her son’s diagnosis, and given little else. Without a medical background and frustrated by the lack of information and isolation she experienced during this painful time, she set…

Rachel Horne

Rachel’s son was diagnosed in August of 2017 in Charleston, South Carolina. Initially, the pediatrician thought Wells’ developmental delays and joyful disposition were a result of Williams Syndrome. The PPM1D diagnosis was discovered using the Whole Exome Sequencing test, but there were still so many questions that could not be answered at that time. Rachel…

Marinda du Toit

Living in California, Marinda’s son, Daniel, has been a patient of Dr. Curry since 2011, when his pediatrician noted his developmental delays early on and started investigating. Several other syndromes, including Williams syndrome, were considered, but genetic testing ruled out all abnormalities. In early 2017, Dr. Curry contacted Marinda requesting further testing, leading to Daniel’s…

Kerry Smith, United Kingdom

Kerry’s son was diagnosed with JdVs in 2020, after taking part in the 100000 Genome project, due to his various difficulties since birth. They were very lucky to be included on the project as they were some of the last to be signed up before it closed in 2017. Kerry considers the timing to be…