Our Mission
Raising Hope, Together.
The Jansen de Vries Syndrome (JdVS) Foundation is a non-profit organization with the mission of providing support and a sense of community to families touched by a PPM1D 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…
Read More
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…
Read More
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 were considered, one being Williams syndrome, but genetic testing ruled out all abnormalities. In early 2017, Dr. Curry contacted Marinda requesting further testing, leading to…
Read More