Tuesday, September 18, 2007

Beating the odds

Brian Polka never could picture himself raising a boy. No particular reason, he said. He just couldn’t. But when it came time for the three-time triathlete to start a family, it was still strange for him to discover that he probably never would.

Polka, 34, of Lake in the Hills has a genetic disorder affecting his Y-chromosome that doctors theorize has made it highly unlikely that he and his wife, Catherine, could ever be able to give birth to a boy.

“To me, it is what it is,” Polka said.
“It doesn’t mean that I’m any weaker or any less of a man.”

Polka’s Y-chromosome has missing pieces of genetic material, or micro-deletions, that doctors suspect has made the chromosome so unstable it causes the male embryo to miscarry. The couple went through three miscarriages before they discovered the disorder during a last-ditch effort to visit a fertility doctor.

Laurence Jacobs, the couple’s doctor with Fertility Centers of Illinois in Crystal Lake, said he never had seen a man with so much genetic material missing but who still had a Y-chromosome.

Most men who have three or more micro-deletions usually don’t fertilize eggs at all, Jacobs said. Brian Polka had 17.

“In his case, he could fertilize, but he could do little else after that,” Jacobs said.

“[The theory is that] simply because there were so many micro-deletions, that after the egg fertilized, the Y-chromosome would disintegrate,” he continued.

Jacobs worked with the Polkas to maximize their chance of getting pregnant and referred them to a geneticist in New York who specializes in pre-implantation genetics.

The doctors recommended that the couple undergo in vitro fertilization and have the embryos tested beforehand to determine which were male and which were female, suspecting that the females would have a better chance of survival.

But doctors still couldn’t say for sure that implanting a girl would solve the problem.

“We cannot say with certainty that this micro-deletion is causing their infertility,” said William Kearns, director of the Shady Grove Center for Preimplantation Genetics in New York and the couple’s geneticist.

“It’s playing a role, there’s no question,” he said. “But is it the entire role? We don’t have the answer to that.”

With the odds stacked against them and the possibility of yet another miscarriage looming, the Polkas embarked on a costly journey of precisely timed injections and one test after another.

The couple eventually came up with three “normal” embryos, including two males. So they implanted one of each and hoped for the best. It wasn’t long before one died off, but the couple didn’t know which it was or if it was healthy.

For the first four months of Catherine’s pregnancy, the Polkas didn’t know whether their baby was going to live or die. They couldn’t help but wonder whether each new cramp Catherine had was the start of yet another miscarriage.

So they held their breath.

“We couldn’t be happy because we didn’t want to be happy until we knew for sure,” Brian said.

If that wasn’t hard enough, Brian was away on business in California much of the time, forcing the couple to navigate parts of their roller-coaster pregnancy over the telephone.

“If we didn’t have such a strong marriage, we would have gone under by now,” said Catherine, 33.

The pair also had some tough decisions to make. If it turned out that the male embryo had survived, the odds seemed likely that he could be born with a genetic disorder.

As it turned out, Catherine gave birth in January to a healthy baby girl who they named Molly. At last, the wait was over.

“It was the best thing ever,” Catherine said. “It was, ‘Oh my God, she’s here, after everything we’ve been through.’ For as much as it was scientific and methodical and robotic, it was such a blessing. We know how lucky we are.”

The Polkas also learned one of the meanings behind their daughter’s name was “wished-for child.”

For them, it couldn’t be more accurate.

“For everything that we went through to get what we got is well worth it,” Brian said. “We have this perfect child. You go through that and 10 times more to know that what you’re going to get in the end is well worth it.”

What’s a micro-deletion?

A micro-deletion refers to a missing piece of genetic material. Doctors tested 20 spots on Brian Polka’s Y-chromosome and found 17 of them missing, an unusually high number that they suspect could be contributing to his wife’s multiple miscarriages

Source: http://www.nwherald.com/articles/2007/09/18/news/local/doc46ef990ddba53963315272.txt

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