One Mother's Story

Connors web2After 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 form 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

Study Participation

Eligible participants include individuals from birth to 60 years who have had genetic testing and have a documented molecular diagnosis of Angelman syndrome OR patients with a clear clinical diagnosis of Angelman syndrome who do not have a known molecular defect.

For more information, see the Angelman syndrome study fact sheet or contact This email address is being protected from spambots. You need JavaScript enabled to view it. , study coordinator.