February 28th is Rare Disease Day. This day takes place on the last day of February each year and the main objective is to help raise awareness about rare diseases. Nick and I would like to continue our story about our daughter, Katie. We are excited to partner again this year with the Foundation for Prader-Willi Research (FPWR) to help fund research for this rare syndrome.
Katie is the 220th world-wide to be diagnosed with Schaaf-Yang Syndrome (SYS). SYS is a genetic disorder caused by a disruption of the MAGEL2 gene on chromosome 15. This is within the same segment as the more common Prader-Willi Syndrome (PWS). The goal of the MAGEL2 work supported by FPWR is to develop new therapies which may improve the lives of individuals with both SYS and PWS.
Since last year, Katie started walking this summer right before her 4th birthday - go Katie! She had another sleep study (her 9th) and must continue using her CPAP machine every night. She is making progress in feeding therapy, but she is not eating independently yet. Katie enjoys attending the Washington Center (a separate school facility for students with disabilities) from 8-11 weekdays. Katie also became a big sister this year! Katie is a happy girl and she will continue to progress and improve in her own time.
Nick and I want to thank our families for all their support. Currently, there is no cure for SYS. FPWR is interested in advancing research toward understanding and treating specific aspects of the syndrome, with the goal of an eventual cure. Please join us this year so that this research can continue. This year, you can help elevate the cause and shine a light on Katie and others with SYS by donating to support SYS research. We hope you will continue to support Katie and track her progress through the years.
Laura, Nick, Katie, and Anna Schomisch