Kara Kilroy

President

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 out to connect with others and she committed to making a difference within the JdVS community. Fortunately her geneticist at Boston Children’s Hospital remained involved in her son’s and called within a few months to share the name of Dr. Cynthia Curry, a researcher and practitioner who diagnosed the first cases of JdVS within the United States. A call with Dr. Curry set off a series of connections across the United States and developed the community of support we have today. The JdVS Foundation was created to provide families with a welcoming community of support during an incredibly isolating and confusing time.

Kara has Masters degrees in School Counseling and Mental Health Counseling. She spent many years working as a high school counselor and more recently transitioned to private practice, serving the mental health needs of children and adolescents. When she is not advocating on behalf of the JdVS community or working, Kara enjoys spending time outdoors with her family, cooking, reading and planning her next home improvement project!

Rachel Horne

Vice President/Secretary

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 now finds connecting with other families helps her to remain hopeful and she knows working together will help doctors learn more about JdVS. Using her own experiences to build the foundation has become her passion. Wells is doing wonderfully, even though it can be consuming navigating the world of special education and IEP’s.

Rachel has a Bachelor of Science in Early Childhood Education. She has taught kindergarten and preschool, currently responsible for a four year old classroom in a small faith based program. Her family keeps her extremely busy! They can usually be found riding bikes, at the beach, reading, or playing with neighbors.

Marinda du Toit

Treasurer

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 diagnosis with JdVS later the same year. There was little information available then, only one article that described the PPM1D gene mutation. This article prompted the request for further testing. Through Dr. Curry, Marinda was able to get connected with other families with the same new diagnosis. Recognizing that there would be other parents looking for support and more information following diagnosis, a small group of mothers has been working to raise awareness for JdVS and connect families worldwide.

Marinda was born in South Africa, emigrating to the US with her husband, Arno, in 2005. Their first child, Leann, was born in 2007 and is unaffected by JdVS. Marinda has a master’s degree in nursing with a focus on leadership and administration. Her nursing background is in Labor & Delivery, and she is currently employed as a Neonatal Intensive Care Unit nurse.

Kerry Smith

International Ambassador - 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 perfect as if they’d been entered earlier they might not now have an answer to all of his difficulties as the syndrome was not known about.

Kerry was happy to find the JdVs foundation after the diagnosis and feels that she has gained a lot of support from the group over the past several years. However, living in the UK, services and systems are very different to those in the USA and she is keen to work towards providing more support directed to families in the UK.

Kerry has a degree in Psychology and Health, along with a Masters in Social Work and has also trained to be a primary school teacher. She has worked for many years in the field of Children with Disabilities and has spent her career working with children in lots of different settings and services. She hopes to use her skills and experience to advocate for the JdVS community in the UK.