David and Victoria Braddock excitedly welcomed twin girls, Madison and Mackenzie, in the spring of 2012, but their joy quickly turned to fear when one of their daughters was diagnosed with a rare metabolic disorder. Madison’s newborn screen, a blood test performed on all babies in the first two days of life, discovered that she had glutaric acidemia, type 1, also known as GA1. Madison must follow a carefully managed diet to avoid the severe complications of the disorder, which can be devastating, even lethal, if not detected and treated early.
Dr. Neena Champaigne, Director of the Metabolic Treatment Program at the Greenwood Genetic Center (GGC), was called in and met the family when Madison was just days old. “Dr. Champaigne was a life-saver, literally and figuratively,” shared Victoria. “She swooped in with her team, started Madison on a treatment plan, and has supported our entire family on this journey. The GGC team makes us know that we are not alone.”
The Braddock family recently held their inaugural ‘Care for Rare’ event in their hometown of North Augusta, SC to raise awareness about rare diseases like GA1 and the importance of newborn screening. Proceeds from the event, which included food, games, children’s activities, t-shirt sales, and a silent auction, were shared between the Newborn Screening Foundation and the Greenwood Genetic Center Foundation.
On Wednesday, Victoria and Madison presented a check for $1,000 to the GGC Foundation.
“We are so honored that this family has chosen to support GGC and our work in the treatment of genetic disorders,” shared Dr. Steve Skinner, Director of GGC and Executive Director of the GGC Foundation. “With treatments now available and on the horizon for many genetic conditions, the work of GGC and our Foundation is to ensure that our patients receive the best possible care including the most advanced treatments available.”
“Madison is doing great,” said Victoria. “She is thriving and developing like a typical, very busy, two year old, thanks to her newborn screening test and the treatment team at GGC. We received so much support from GGC, our community and other metabolic families across the state with this event and are already looking to make next year’s ‘Care for Rare’ even bigger.”
To donate to ‘Care for Rare’, contact any First Citizens Bank. For more information on the GGC Foundation click here.
Photo caption: Madison and her mom, Victoria Braddock (center), present proceeds from ‘Care for Rare’ to Dr. Steve Skinner and Dr. Neena Champaigne of the Greenwood Genetic Center.