Our daughter Chloe is a happy, loving child who enjoys jumping on the trampoline, swimming, playing with her sisters, family BBQs, and visiting with her grandparents. She is universally adored by her classmates, teachers and caregivers due to her positive attitude and sweet nature.
Chloe has developmental delays and neurologic and physical impairments associated with an anomalous KAT6A gene identified through exome genetic sequencing.
As of 2017, over 100 boys and girls have been discovered to have the KAT6A genetic mutation and have contacted us through this website. These children live in countries including Argentina, Australia, Dominican Republic, England, Finland, Ireland, Israel, Spain, Sweden, and Venezuela.
We invite you to join our efforts to promote KAT6A research to find better treatments for our children, and to identify ways we as families can support our children with KAT6A mutations. Just by identifying your child, you can increase the number of children studied and the quality of research that can be conducted.
If you know someone with KAT6A mutation, please contact The KAT6A Foundation at:
or email me directly at: