Our journey to diagnosis looks different than most, our journey to our boy also looks different. In the fall of 2019, my husband and I, had 3 small children and decided to take steps forward toward becoming foster parents. By springtime of 2020, we were ready to start our foster parenting classes, but the pandemic […]
The Oxford dictionary defines insidious as: proceeding in a gradual, subtle way, but with harmful effects. Most people associate this term with clever criminals. Today I am writing this to ask you to think about it in another way. Perhaps the greatest joy a person can experience is welcoming a child into the world. So […]
The 3rd International KAT6A and KAT6B Conference took place on June 4, 2022 in Baltimore, Maryland. It was a patient-centered, collaborative event organized and sponsored by the KAT6 Foundation designed to solidify KAT6A and KAT6B research internationally and enable open dialogue between families, clinicians, and researchers. The Conference was the first in-person meeting since the […]
The KAT6 Foundation is honored to receive a third year of funding from the Chan Zuckerberg Initiative (CZI), in the amount of US$150,000. The grant supports the expansion of the KAT6A/KAT6B Research Network and accelerates our work to find treatments or a cure for KAT6A and KAT6B syndromes. “We are so grateful to the Chan […]
On March 24, 2022, The KAT6A Foundation hosted the second KAT6A and KAT6B Virtual Symposium. The event was designed to solidify the KAT6A and KAT6B research network of clinicians and researchers through identification of research gaps, opportunities and collaborations. The symposium series aims to drive patient- centered and collaborative research to improve outcomes for individuals […]
Dr. Rowena Ng, Ph.D is looking for participants for a new research study. Dr. Ng’s research team is completing a retrospective study that involves reviewing participants’ past neuropsychological or psychological evaluations to determine the cognitive developmental pattern associated with KAT6A Syndrome. Currently, this area is not well published, and therefore determining appropriate early treatments can […]
Sam was born in the summer of 1990, the year Beth turned 36 and I turned 40. We have two daughters who turned 14 and 11 that year, so Sam was a late arrival into the family. We would wait 27 years to learn that a de novo mutation of the KAT6A gene on one […]
Parents and guardians of KAT6 individuals, we need your assistance. Help us gather information that will allow us to identify and prioritize high-impact research questions that will have the potential to improve KAT6 patient health and quality of life. Click here and participate in a short survey. This survey will only take 3 minutes to […]
Our family was honored to be invited as special guests to the Creighton Farms Invitational Golf Tournament in August 2019. Barbara Nicklaus, the wife of golf great Jack Nicklaus spoke about the Genomics Program at Nicklaus Children’s in Miami, which is technology that truly changes lives. We know because it changed ours dramatically. Lilly is […]
Pilar Jean is the mother of Victoria. They live in Palma de Mallorca, Spain with their family. Pilar is proud to share their experience using augmentative and alternative communication (AAC) with the KAT6 community. Our daughter Victoria, 11 years old, lacks verbal communication and since we started to use assistive technology and working with her […]