Screening for rare disorder saves couple from second childbirth nightmare

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A Colorado couple has two healthy children thanks to sophisticated genetic screening. They were able to choose disease-free embryos over ones that carried a rare disorder.

For the Wilkersons of Colorado Springs, it was the only way they could go into another pregnancy without fear of losing their child.

Their first child, Noah, was born June 26, 2009. He went home healthy.

“On the evening of the fourth day of Noah’s life, suddenly without warning, he stopped breathing,” said his mother, Sarah Wilkerson.

Noah died. He had inherited a rare metabolic disease called MCADD. MCADD stands for “medium chain acyl-CoA dehydrogenase deficiency.”

People with MCADD have problems breaking down fat into energy for the body.

“Sarah and I didn’t know that we were carriers of this disease”, said Chris Wilkerson.

These grieving parents desperately wanted children, but they were terrified.

“You know, how do we trust ourselves to have a baby that’s going to be healthy?” Sarah asked.

The Wilkerson’s turned to reproductive endocrinologist Dr. Shona Murray and the University of Colorado Hospital.

The couple opted for “preimplantation genetic diagnosis” or PGD.
“Their risk of having an abnormal child was lower than the background population,” explained Dr. Murray.

It began with in vitro fertilization (IVF).

Once embryos were formed, a single cell from each one was sent to the lab “Genesis Genetics” in Detroit to be tested for the disease that killed Noah.

Two healthy embryos were then implanted.

“Suddenly life had hope again,” said Sarah.

Read full, original article: Genetic Screening: Some Claim Controversy, Others Say It’s A Miracle

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