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 […]
Bruno’s journey began in 2019. From his birth on October 11th, 2017 we already knew that something was happening but we didn’t have a final diagnosis until February 21st, 2019. Even though the pregnancy was normal, when I was 37 weeks pregnant Bruno hadn’t turned yet. He was going to be born breech and my […]
I was born in 1989. The birth lasted for 33 hours. I was measured to be 49 cm and 3160 grams. During birth I had swallowed amniotic fluid. I could not breathe, and my skin turned blue. The doctors took me to the next room to pump. I also had a hidden cleft palate, so […]
January 28, 2019 18 years and 31 days after he took his first labored breath, we have a diagnosis for my boy. The genetics department called a couple of days after Christmas to share the news, and I have been reeling since. For 30 days now, I have been down the rabbit hole of investigating […]