Wednesday, September 04, 2019 9:03:28 AM
1/5/2017 1:00:00 PM
Greenwood Genetic Center Named Rett Syndrome Center of Excellence
Center's work providing care and hope to families
Katy Forsythe of Simpsonville is a 14 year old girl who like many teenagers, loves her dogs and being the center of attention. But Katy is not a typical teenager. Katy has Rett syndrome, a rare neurodevelopmental disorder that causes significant cognitive and physical challenges.
“Katy was born happy and healthy, hitting nearly all of her milestones during her first year,” shared her mother Adel. “Then at 15 months she very suddenly changed from a little girl who was talking, feeding herself, and engaged with books to a child with a fearful, dazed look in her eyes, who lost all but one word and had very little use of her hands.”
Finally, just before her third birthday, Katy was diagnosed with Rett syndrome. She has been part of the NIH’s natural history study of Rett syndrome for 10 years, first through clinics in Houston, and more recently visiting Greenwood Genetic Center (GGC) for annual evaluations to help researchers better understand the condition. She is also enrolled in a current clinical trial at GGC evaluating a new medication that has shown promise in improving some of the symptoms of Rett syndrome.
Because of GGC’s commitment to providing exceptional clinical care and research opportunities for families impacted by Rett syndrome, GGC has been named a Clinical Research Center of Excellence by rettsyndrome.org, formerly known as the International Rett Syndrome Foundation.
The Center has recently initiated a Rett syndrome multidisciplinary clinic at Shriners Hospital in Greenville, and GGC’s Dr. Walter Kaufmann, of the Center’s Greenville office is leading a translational research initiative focusing on several neurodevelopmental disorders including Rett syndrome.
GGC is one of 14 clinical centers worldwide to receive this newly established Center of Excellence designation.
Rett Syndrome Centers of Excellence are chosen based on criteria that include broad experience with patients with Rett syndrome, a team-based approach in delivering care and services to families, a commitment to clinical training, and engagement in clinical trials and research programs in search of cures, treatments and therapies for Rett syndrome.
“We are honored to be one of the first centers to receive this special designation from rettsyndrome.org, an organization created and run by families,” said Dr. Steve Skinner, GGC’s Director and a lead investigator on GGC’s Rett syndrome initiatives. “Working with such resilient and amazing families like the Forsythes keeps us motivated to move this research forward to improve the quality of life for these patients and hopefully, one day soon, find a cure.”
“We are so grateful to Dr. Skinner and his team for welcoming us and making sure we feel special and cared for each time we visit,” said Adel. “GGC’s work is providing us with the hope that this is just the beginning for Katy. Hope is a wonderful thing. Our hope of all hopes is for Katy to talk again. We so want to hear her voice and know her heart in a more complete way.”
http://gwdtoday.com/main.asp?SectionID=2&SubSectionID=27&ArticleID=39044
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