Katie’s Story

Katherine Jane Schomisch (“Katie”) was born September 9, 2017. After experiencing some global developmental delays, our answer was found with an exome sequencing of Katie’s genes. Katie is the 220th person world-wide to be diagnosed with Schaaf-Yang Syndrome (SYS). It’s a rare genetic disorder based on the MAGEL2 gene on the 15th chromosome. This is within the same segment as Prader-Willi Syndrome. Visit https://www.fpwr.org/about-schaaf-yang-syndrome if you are interested in learning more. So far in Katie’s short life, she has had to be under anesthesia 5 times for various procedures and surgeries. Katie has had 9 sleep studies and 2 swallow studies. We have regular doctors’ visits with 10 different doctors, and she has already had numerous early intervention therapy sessions–too many to try to count (7 one-hour sessions per week). Katie sleeps with a CPAP machine for sleep apnea. She is making progress in feeding therapy, but she is not chewing or eating independently. She is not suspected to have autism, epilepsy, or scoliosis—all common with SYS. Katie is making big strides in physical therapy lately. She started walking independently this summer right before her 4th birthday—go Katie! Katie has been attending the Washington Center (a separate school facility for students with severe/profound intellectual disabilities) from 8-11 on weekday mornings. She has loved getting to know her classmates and teachers. Katie is a happy girl, and she will continue to progress and improve. Currently, there is no cure for Schaaf-Yang Syndrome. The Foundation for Prader-Willi Research is interested in advancing research toward understanding and treating specific aspects of the syndrome, with the goal of an eventual cure. Nick and I want to thank our families for all of their support. We hope you will continue to support Katie as we track her progress through the years!