GGC Named Rett Center of Excellence
Makayla Gunn of Mount Pleasant is a 4 year old girl who like many preschoolers loves playing in the pool and ocean, riding her rocking horse and dancing. But Makayla is not a typical preschooler. Makayla has Rett syndrome, a rare neurodevelopmental genetic disorder that causes significant cognitive and physical challenges.
"At about 18 months, we noticed that she started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words," shared Makayla's father, Hollis Gunn. "She had learned some sign language and said 'Mama' and 'Dada', but that was it, and suddenly even that stopped."
At age two, Makayla's caseworker through the state's BabyNet early intervention program suggested that she have a genetics evaluation. Makayla was referred to the Greenwood Genetic Center's Charleston office where she was diagnosed with Rett syndrome.
Rett syndrome affects approximately 1/10,000 females. Girls with Rett syndrome experience normal development until 6-18 months followed by a period of developmental regression. The features of Rett syndrome typically include intellectual disability, seizures, absent or reduced speech, and stereotypical hand movements, as well as breathing and digestive issues.
Because of the Greenwood Genetic Center's (GGC's) commitment to providing exceptional clinical care and research opportunities for families impacted by Rett syndrome, the Center has been named a Clinical Research Center of Excellence by Rettsyndrome.org.
GGC is one of only 14 clinical centers worldwide to receive this newly established designation, and is the only one in SC.
The award was celebrated at a Rett syndrome family event on Saturday in Greenwood. Gunn, who is the SC Family Empowerment Representative for Rettsyndrome.org spoke at the event encouraging other families with his story.
"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.
Makayla is also part of the NIH's natural history study of Rett syndrome at GGC to help scientists better understand the condition and help guide clinical trials and interventions.
"GGC has been so encouraging for our family as we navigate through what, for us, are uncharted and scary waters," said Gunn. "Dr. Skinner and the whole staff showed compassion from that first day where they gave us all the time we needed to ask questions and process the overwhelming amount of information we needed to know."
"Working with such resilient and amazing families like the Gunns 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," shared Skinner.
"I do not think there is any sound sweeter than when Makayla is tickled and she laughs and laughs," Gunn said. "She has blessed our family in so many ways."
For more information, contact Lori Bassett
Photo: Dr. Steve Skinner (right) chats with Makayla and Hollis Gunn befire the family event.