In 2017, when our daughter, Gabby, was 10 years old, we finally received a diagnosis that explained her symptoms and challenges: a mutation of the KDM5C gene.
Amy searched online for other parents and families affected by this rare syndrome, but couldn’t find much support. That’s when Amy created the KDM5C Support Group on Facebook, which now has hundreds of members representing approximately 100 diagnosed individuals worldwide.
In 2020, a group of families and researchers met up for the first time at the rare disease day conference at Albert Einstein College of Medicine. It was inspiring to see families, clinicians, and scientists come together in support of KDM5C research for the first time. There continues to be strong collaboration amongst these groups and a growing volume of research, particularly at labs in New York and Michigan.
As the Facebook support group continued to grow, several families came together with the idea of creating Foundation to improve the lives of KDM5C-affected families. The KARES foundation was born in 2022, a nonprofit 501(C)(3) dedicated KDM5C advocacy, research, education, and support for Individuals and families living with KDM5C syndrome around the globe.
