Tilly Collins is in the third year of her speech and language therapy degree, studying at Cardiff Metropolitan University, UK. Collins is interested in hearing your thoughts, opinions and experiences of speech and language therapy as parents of children with KAT6A syndrome. Your involvement will be a 30-minute casual interview over the phone or a […]
July 1, 2023 Working through ZebraKinder — our KAT6 counterpart in Austria, filmmaker Niko Mylonas has released the new production, “Genetic Defekt.” Coordinated by executive producer (USA) Emile Najm for the KAT6 Foundation and retaining its German title, the production is available in English narrated by our own Katie Bator as well as in […]
TO ALL KAT6 CAREGIVERS: A PLEA FOR INFORMATION The KAT6 Foundation has established a committee to study mortality within our community. It is sobering to realize that there is a need for this. While we are all here to surround and support those burdened with the loss of a loved one, the ultimate objectives for this […]
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 KAT6B disorders. Currently, this area is not well published, and therefore determining appropriate early treatments can […]
We are proud to report that research led by Dr. José A. Sánchez-Alcázar and his team was published by Genes on November 15, 2022 in an article titled Pantothenate and L-carnitine Supplementation Corrects Pathological Alterations in Cellular Models of KAT6A Syndrome. This is an important milestone for our Foundation as it is the first research project […]
by David A. Woodbury Parents and caregivers of children or adults with KAT6 disorders are the first to recognize whether the person they care for is in distress. Those continually looking after the person’s needs are the best ones to intervene and advocate for medical care when it appears that a problem is present and […]
The Gastrointestinal Health and Beyond in Children with Rare Genetic Variations was a 2-hour long, patient-centered, collaborative event organized by the KAT6 Foundation. It was designed to fuel conversation about the gastrointestinal challenges faced by children with KAT6A and KAT6B gene variations and enable open dialogue between families, clinicians, and researchers. The webinar provided a […]
It was just a few days before Anna’s birthday and, after being in several different hospitals, we were about to receive the long-awaited answer. It didn’t seem true that we could name Anna’s problems after years of research. What we did not expect was to be confronted with a rare genetic disease: the KAT6A syndrome. […]
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 […]