Patient Stories

​When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.

Ella, 5, was diagnosed with Kleefstra syndrome, a rare genetic disorder. Her family has created a nonprofit, iDefine, to identify treatments & cures and build community and resources for families…

Jeremiah Licorish was born with a rare genetic mitochondrial disorder. Because of his persistent mother and GGC’s ability to expedite his appointment and testing, he is now on a clinical trial medication that is showing great promise.

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.

​Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with looses anagen hair by identifying a mutation in the SHOC2 gene

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child.

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child.

We know, first-hand, the role that Greenwood Genetic Center plays in lives of families who encounter the unexpected. We have been blessed three times over with three little boys who each have their own obstacles and challenges that life has to offer. From autism to genetic abnormalities each of our boys have been patients of the Greenwood Genetic Center.

Charlie Connor, 13, has been part of the GGC family since he was five days old. Each spring, the Connor family hosts Race the Helix-Upstate in Greenville to share their GGC story and encourage others to support this cause that is so dear to them…

Rare is beautiful! Artist and GGC mom, Nicole Shannon, found invaluable support from GGC and inspiration in her son’s diagnosis. She created a series of paintings depicting real roses with genetic differences to share her message of beauty and acceptance…