(page 3 of 3)
From there to getting pregnant was a relatively short road, but not an uncomplicated one. The couple went through a process called preimplantation genetic diagnosis, or PGD, in which the female’s egg and the male’s sperm are mixed in a laboratory to produce embryos. Those embryos were then tested for the mutant gene. The healthy ones were implanted via IVF.
Late last year, Poupko, now 30, got pregnant.
In his bris speech, Galena offered a special thanks to the NIH, “who told us to give them five to 10 years to find the genetic mutation” but found it in less than two.
Now that they have a new baby, Poupko says she wants to help spread the message within the Jewish community about the importance of genetic testing — particularly in the haredi Orthodox community. Haredi couples whose genetic screenings show both members are carriers for certain genetic diseases often are told to break up, but Poupko says new genetic research makes it possible for such couples to produce healthy babies.
“Modern medicine gives people options they never thought possible,” Poupko says, citing her own experience of being able to screen out problematic embryos before their implantation. “The Jewish community needs to be educated on this. Ashkenazi Jews in particular need to be up to date and knowledgeable.”
She recommended JScreen as one useful resource for genetic testing for Ashkenazi Jews.
Galena says the experience of the recent pregnancy and birth was an emotional roller coaster.
“Even when we found out we were pregnant it was still a bittersweet process,” Galena said. “The thought of being parents again opened up more wounds for us about mourning Ayelet.”
With the new baby boy now at home, his big sister doesn’t feel far away, Galena said.
“A lot of having a new child is thinking about the old one, so Ayelet’s definitely on our minds at all times,” he said. “Akiva should know what a great older sister he had.”