Success Stories
How a Wilkes County couple avoided the risk of genetic disease
Denise and Chris Kennedy of Austin, North Carolina, were ready to have children but they were concerned about the risk of having a child with Duchenne muscular dystrophy, a debilitating and fatal genetic disease that ran in their family. Denise was diagnosed as a carrier.
The Kennedy’s first tried IVF at a nearby clinic but were not successful. They eventually found REACH, whose doctors arranged for the Kennedy’s to undergo preimplantation genetic diagnosis (PGD).
REACH called on one of the world’s PGD pioneers, Dr. Mark Hughes, based in Michigan. He was the first to utilize this delicate laboratory procedure used in conjunction with IVF to help detect certain diseases.
Since it was first performed in 1989, PGD has become the most important advance in genetic testing to assure babies are born without genetic abnormalities. A single cell is removed from an embryo and analyzed for a specific abnormality. PGD allows doctors to identify embryos with irregularities. By transferring only non-affected embryos to the mother’s uterus, the probability that couples will have a healthy child increases.
Because REACH is hundreds of miles from Dr. Hughes’ lab, extreme care and communication was required regarding the transportation of the single cells removed from the embryos growing in the incubator at REACH.
After Dr. Hughes’ team completed PGD analysis in October 2006, healthy embryos were implanted. Denise became pregnant and the Kennedy’s twins, Chloe and Chris, Jr., were born in perfect health May 30, 2007.
Pre-implantation genetic diagnosis helps couple avoid a second tragedy
Wendy and Chris Baker of Rock Hill, South Carolina lost their first child, Benjamin, when he was only 3-1/2 in August 2004. As a toddler, Ben began struggling to pull himself up, stand and take steps. Soon after, a pediatrician noticed red spots in Ben’s eyes. As time passed, Ben began having seizures and struggled to sit up and swallow, confirming their worst fears: he had inherited Tay-Sachs disease, a recessive genetic disorder. Children born with Tay-Sachs, which causes severe deterioration of mental and physical abilities, usually die before the age of four.
Wendy and Chris learned they were both carriers of the Tay-Sachs gene only after Ben was diagnosed. Their children would have a one-in-four chance of inheriting the disease. The Baker’s luck held when their daughter, Caroline was born healthy. But when they were ready for Caroline to have a sibling, they sought medical support from the specialists at REACH to ensure its health.
Their doctors recommended a medical procedure called preimplantation genetic diagnosis (PGD). Since it was first performed in 1989, PGD has become the most important advance in genetic testing to assure babies are born without genetic abnormalities. A single cell is removed from an embryo and analyzed for a specific abnormality. By transferring only non-affected embryos to the mother’s uterus through in vitro fertilization (IVF) , the probability that couples will have a healthy child increases.
The Bakers followed through with the complex tests and REACH doctors helped Wendy achieve pregnancy with IVF. In March 2006, the Bakers welcomed Caroline’s new brother, Jacob, who arrived in perfect health.
"Jacob is a healthy little boy who’s full of life," Wendy says, "With his pregnancy, I had much more peace, because the sense of not knowing wasn’t there. If I faced the same situation again, I’d take the same path."
