Many leaders launch their platforms and find their voices in business, politics, or academia, but some leaders find their passion and voice out of necessity while fighting for those they love most.
By Kaci Fisher
Tucked in communities all around the world are leaders advocating for people with rare diseases, special health care needs, and disabilities to elevate care, inclusion, research, awareness, and support. Many of these fierce advocates are parents. They never imagined the course their lives would take when their precious babies were born. For many families, the journey brings heartbreak, grief, individualized education program meetings, financial hardships, loneliness, and fear — but also a deeper understanding of resilience, gratitude, patience, and appreciation for the little wins, milestones, and services received for their loved ones.
One such organization filled with these incredible parents, family members, and caregivers is the Koolen-de Vries Syndrome Foundation. It was launched in 2013 by a small group of Kool families fueled by a desire to find answers for their loved ones diagnosed with KdVS. It is a genetic syndrome identified in 2006 involving the 17th chromosome and is caused by a microdeletion at 17q21.31 (including the KANSL1 gene) or a mutation of the KANSL1 gene. The microdeletion or mutation causes developmental delays and learning difficulties and may cause several other health concerns. Children and adults with KdVS tend to be friendly and cheerful, and about half of those with KdVS have recurring seizures (epilepsy). The prevalence is now estimated at 1 in 55,000 individuals.
The KdVS Foundation is now connected to over 500 Kool individuals worldwide and is still exclusively run by families dedicating their time and expertise to fulfill the foundation’s mission to educate, increase awareness, and promote research for the support and enrichment of individuals living with KdVS and their families. The foundation has a board of nine medical professionals from around the world committing research efforts and scientific expertise to advancements in KdVS.
In addition to funding worldwide research, the foundation supports patient advocacy summits every other year, bringing medical researchers and families together to learn, contribute to research efforts, and be in community together. Research is funded exclusively through fundraising by Kool friends and families, and as a result, projects include mice colonies to understand behavior and possible treatments, a biorepository containing biofluids, cell lines and biomarkers, a natural history study to understand the full progression of the syndrome, and exploration into gene therapy for a treatment of epilepsy in KdVS individuals.
Ask any of the parents who started the foundation or still serve, and they will likely tell you what began as a necessity has turned into a passion that will help future generations. These parent leaders have together built a legacy that makes the future for Kool individuals even brighter and the journey for their caregivers a little lighter.
