Sharine and Brian Kretchmar 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, of Oklahoma, researched sperm banks and donors. The donor they chose was a family man, they were told. Most important, he had a clean bill of health. His sperm was stored at the New England Cryogenic Centre in Boston and, according to the laboratory's website, all donors there were tested for various genetic conditions.
So the Kretchmars took a deep breath and jumped in. After artificial insemination, Sharine 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. Eventually Jaxon was rushed to surgery. Doctors returned with terrible news for the Kretchmars: their baby appeared to have cystic fibrosis.
“We were pretty devastated,” says Sharine, 33, 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.”
Someday I have to explain to him that the pain and difficulties he endures should have been prevented
But genetic testing showed that Jaxon carried the genes for cystic fibrosis. Sharine 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. Whether it was properly tested is a matter of dispute.
Sadly, the Kretchmars' experience is not unique, as 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 and fragile X syndrome (the most common form of mental retardation in boys).
Hundreds of cases have been documented but it’s likely there are thousands more, according to Wendy Kramer, founder of the Donor Sibling Registry, a website she started to help connect families with children who are offspring of the same sperm donor.
Donated eggs pose a risk as well, but the threat of genetic harm from sperm donation is arguably much greater. Sperm donors are no more likely to carry genetic diseases than anybody else but they can father a far greater number of children.
The scale of the problem is only now becoming apparent. “There needs to be oversight, and some regulation of the industry,” Kramer says.
The US Food and Drug Administration requires that sperm donors be tested for communicable diseases, but there is no federal requirement that sperm banks screen for genetic diseases. Some of the better ones do anyway, in accordance with guidelines by organisations like the American Society for Reproductive Medicine, which encourages sperm banks to test donors for conditions such as cystic fibrosis. Generally, the donor himself is tested, not his sperm.
But compliance with those guidelines isn’t obligatory, and genetic testing practices vary widely. Critics of the industry are calling for mandatory and consistent medical and genetic testing of all donors.
“In this day and age, when you have genetic testing available for about $200, there's no reason sperm banks can't provide this for clients,” Kramer says.
A lack of regulatory record-keeping also makes it difficult for sperm banks to warn related families, or even donors, when a genetic illness is discovered in one or more children. And donor families aren’t required to report births or illnesses to the sperm banks. Since the clinic has no way to know a donor's sperm is flawed, it may continue to be sold long after problems have surfaced.
The lives of the Kretchmars have been irrevocably altered by their son's illness. Cystic fibrosis is a progressive disorder that causes thick, sticky mucus to build up in the lungs, digestive tract and other areas of the body. The life expectancy of someone with the disease is about 37 years.
Every day, Jaxon, now two, must take more than 20 pills. He needs several nebulizer treatments daily, and he must regularly wear a special vest that shakes his torso to help loosen the congestion in his body.
The Kretchmars have sued New England Cryogenic Centre, the sperm bank that sold them the sperm used to conceive Jaxon. As it turns out, the sperm was purchased from a cryobank that closed a few years ago. The sperm was donated more than 20 years ago.
“Someday I have to explain to Jaxon that the pain and difficulties he endures are unnecessary and should have been prevented,” Sharine Kretchmar says. “It is a helpless feeling to know that I can't take away my child's pain.”
The New York Times