In Choosing a Sperm Donor, a Roll of the Genetic Dice

May 14, 2012 – New York Times
By JACQUELINE MROZ

Sharine and Brian Kretchmar of Yukon, Okla., tried a number of medical treatments to conceive a second child. After a depressing series of failures, a doctor finally advised them to find a sperm donor.

For more than a year, the Kretchmars carefully researched sperm banks and donors. The donor they chose was a family man, a Christian like them, they were told. Most important, he had a clean bill of health. His sperm was stored at the New England Cryogenic Center in Boston, and according to the laboratory’s Web site, all donors there were tested for various genetic conditions.

So the Kretchmars took a deep breath and jumped in. After artificial insemination, Mrs. Kretchmar became pregnant, and in April 2010 she gave birth to a boy they named Jaxon.

But the baby failed to have a bowel movement in the first day or so after birth, a sign to doctors that something was wrong. Eventually Jaxon was rushed to surgery. Doctors returned with terrible news for the Kretchmars: Their baby appeared to have cystic fibrosis.

“We were pretty much devastated,” said Mrs. Kretchmar, 33, who works as a nurse. “At first, we weren’t convinced it was cystic fibrosis, because we knew the donor had been tested for the disease. We thought it had to be something different.”

But genetic testing showed that Jaxon did carry the genes for cystic fibrosis. Mrs. Kretchmar had no idea she was a carrier, but was shocked to discover that so, too, was the Kretchmars’ donor. His sperm, they would later discover, was decades old, originally donated at a laboratory halfway across the country and frozen ever since. Whether it was properly tested is a matter of dispute.

Sadly, the Kretchmars’ experience is not unique. In households across the country, children conceived with donated sperm are struggling with serious genetic conditions inherited from men they have never met. The illnesses include heart defects, spinal muscular atrophy, neurofibromatosis type 1 and fragile X syndrome, the most common form of mental retardation in boys, among many others.

Hundreds of cases have been documented, but it is likely there are thousands more, according to Wendy Kramer, founder of the Donor Sibling Registry, a Web site she started to help connect families with children who are offspring of the same sperm donor.

 

 

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