The Roya Kabuki Program was established by Dr. Olaf Bodamer at Boston Children’s Hospital in 2017. During this year, Dr. Bodamer met Roya, a beautiful young girl newly diagnosed with Kabuki Syndrome (KS), and her family. While creating a plan of care for Roya it became evident that families of children with KS were dealing with immense unmet medical needs. Through a generous gift from Roya’s family, the Roya Kabuki Program was created with strong clinical and research goals in mind. In collaboration with Roya’s family, it is our intention to fulfill the needs of not only Roya, but of many Kabuki families across the world.
In addition to seeing a geneticist, many patients with Kabuki Syndrome require care from multiple other specialties related to their individual symptoms (e.g. cardiology, endocrinology, neurology, and more). This often leaves families with the task of connecting the dots between specialties, and sometimes with seeing clinicians who may not have any KS background. The Roya Kabuki Clinic was created to provide interdisciplinary care by identifying a ‘Kabuki Champion’ in each of the specialties typically seen by KS patients at Boston Children’s Hospital. With this approach, patients are able to see a connected team of physicians who have experience in treating KS.
Currently, there are no targeted drug therapies for individuals diagnosed with Kabuki Syndrome. Advancing research to learn more about KS, the underlying mechanisms of the condition, and how to improve patient outcomes is the second goal of the Roya Kabuki Program. We are actively enrolling patients with KS into a research study at Boston Children’s Hospital. Participation in the study typically involves providing samples for analysis in the lab, and providing medical histories through records and surveys. Local families are welcome to come into the hospital to complete the study tasks, however everything can be coordinated remotely allowing patients nationwide to become involved.