Even before their daughter, Ayelet Galena, was diagnosed with a rare bone marrow disease called dyskeratosis congenita around her first birthday, parents Hindy Poupko and Seth Galena knew they wanted to have more children.
But once the diagnosis arrived, the couple had a dilemma: There was a fair chance their next child would have the life-threatening genetic disease, too.
Over the course of the next year or so, Galena and Poupko didn’t have much time to think about other kids. They were busy tending to Ayelet, whose struggle they decided to document on a blog, Eye on Ayelet. It quickly gained a following in the thousands. While her kidneys failed her, Ayelet became an Internet sensation. Galena dubbed the phenomenon Ayelet Nation.
When Ayelet died on Jan. 31, 2012, less than two months after her second birthday, thousands of people from around the world who had never met the little Orthodox Jewish girl from Manhattan’s Upper West Side seemed to share in her parents’ grief, overwhelming Poupko and Galena with condolence messages, food packages and gifts.
This month, good news finally arrived in the Galena-Poupko household: The couple had a new baby, a healthy boy born two weeks ago. On Sunday at his bris, they named him Akiva Max Galena...
When Ayelet was diagnosed, she immediately was tested for the seven known genetic mutations that cause dyskeratosis congenita. But the results showed she didn’t have any of them, which meant her illness was caused by an unknown genetic mutation that could not be identified by prenatal screening.
“From that moment we always knew that having more children and confidently healthy children would be a challenge,” Poupko said. “They couldn’t even tell us if the disease was inherited or not.”
The couple had two options: They could get pregnant again and risk having another sick child who might suffer and die young, or they could wait for the science to catch up. If the genetic mutation that caused Ayelet’s disease could be identified, they could do in-vitro fertilization and test the embryos before implanting them in the uterus to make sure they didn’t carry the disease-causing gene.
The couple decided to wait.
“A lot of people would say lightning doesn’t strike twice, but this is a science,” Poupko said. “Statistically, we knew the likelihood of us having another child with the disease was 25 percent.”
They joined a National Institutes of Health study led by Dr. Sharon Savage of the National Cancer Institute to find the genetic causes for a number of inherited bone marrow diseases. The couple was told the process could take a few years, and by the end there would be only a 50-50 chance that the genetic mutation that caused Ayelet’s illness would be found.
While they were dealing with Ayelet’s tests, hospital stays and a bone-marrow transplant at Cincinnati Children’s Hospital Medical Center — and eventually her tragic passing — researchers at the NIH were working on the genetics in consultation with scientists at the Rockefeller Institute, Mount Sinai Hospital and Johns Hopkins University School of Medicine.
With Poupko in her late 20s, the two figured they could afford to give the NIH study some time before trying for another baby...
The good news finally came on April 11, 2013. Poupko remembers where and when she was when she got the call. After the NIH nurse on the phone told her that Ayelet’s genetic mutation had been found, Poupko broke down, sobbing.
“We had been following up, calling them nonstop, but they had never called us before,” she recalled. “It was amazing. We knew at that moment that we would have that future we’d always wanted.”...
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.
Courtesy of my daughter.