After struggling for years to have a child, Greenville’s Wes and Brooks Connor were elated when little Charlie was born – ten fingers, ten toes, the picture
of health. That bliss was short-lived when they learned that Charlie’s newborn screen, commonly called the heel prick test, came back positive. Charlie,
who will turn eight in April, was diagnosed with isovaleric academia at five days of age. At the time of his diagnosis, he was the only child in SC
with this condition.
Isovaleric academia (IVA) is a rare genetic disorder in which the body is unable to break down a certain component of protein called leucine. If left untreated,
it can lead to vomiting, seizures, coma, and even death.
“Fortunately, Charlie’s course has been mild and by altering his diet, his IVA has been well controlled,” shared Brooks.
Charlie is followed by Dr. Neena Champaigne through the Greenville office of the Greenwood Genetic Center. “IVA is a recessive condition meaning that while
both of his parents are unaffected, they each carry the altered gene,” said Champaigne. “Charlie has been doing well with treatment which includes
a low protein diet and supplements.”
“The Greenwood Genetic Center, particularly Dr. Champaigne, has been there for us since we got that first frightening phone call nearly eight years ago,”
said Brooks. “I don’t know where we’d be without them, but I do know, even though this disorder is very rare, that we are not alone in this.”
To support other families with genetic disorders and to show their appreciation for the team that cares for Charlie, “Charlie’s Angels” as Brooks calls
them, the Connor family hosted last weekend’s 3rd annual Race the Helix – Upstate.
Participants including GGC employees, families, competitive runners, and others who just wanted to do something worthwhile with their Saturday morning,
enjoyed a hilly 5K trail run or a nice leisurely 1 mile stroll, all to provide support for families like Charlie’s. Proceeds support the GGC Foundation
which provides services for families who are unable to afford them, as well as support for diagnostic testing, research and educational programs of
With five offices across SC, the GGC Foundation is working to develop events and support in all five of those areas. Race the Helix-Greenwood is
planning for its 7th year, the first ever LowCountry race will be in Charleston
on May 6th. Events in Columbia and the Pee Dee are under development.
The story of the Shenal family, who started the first Race the Helix in 2011 was in an earlier Gene Scene post.
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 son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida,
hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered.