One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests.

I will never forget the following day. It was cool and crisp - not a cloud in the sky. The next thing I know, our pediatrician showed up at our door. The tests had confirmed that our son had a very rare metabolic disorder called Isovaleric Acidemia or IVA and we must go straight to the hospital.

Our pediatrician was in direct contact with Dr. Neena Champaigne at the Greenwood Genetic Center, and we met with her the very next day. She explained that Charlie could not process a component of proteins called leucine. Although IVA is a serious metabolic disorder, we were relieved to find out that it could be treated through his diet. We also learned that Charlie was the only child in South Carolina with IVA. Before Dr. Champaigne left the hospital, she told us that through the support of GGC, "we were not alone."

There are no words to express our family's thanks and appreciation to the couriers, to the lab technologists, to the doctors, to the nutritionists, to the entire staff of the Greenwood Genetic Center, all of whom give tirelessly of themselves so that we don't even feel alone. They are "Charlie's Angels!"

- Brooks Connor

Meet Reggie Roper

Meet Reggie Roper

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 loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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