When Seth Galena and Hindy Poupko Galena welcomed their daughter, Ayelet, in December 2009, the new parents were over the moon. But soon, Ayelet began having digestive problems that their pediatrician couldn't fix, and eventually the little girl was diagnosed with dyskeratosis congenita, a rare genetic disorder that makes it hard for the body to produce healthy cells. Despite a bone marrow transplant, Ayelet lost her fight against the disease and died in January 2012, shortly after her second birthday. But Ayelet's brief life had a greater purpose: A study that she participated in through the National Institutes of Health (NIH) resulted in a groundbreaking medical advancement and enabled her parents to have a child who didn't have the disorder.
The Galenas learned about an NIH study for rare diseases through a support website for parents whose kids had dyskeratosis. "When Ayelet was alive, we went down to their headquarters," Seth Galena explains to Yahoo Shine. "It was like 'Men in Black,' asking us super-interesting questions; they had photographers taking pictures of her body parts." The lead doctor on the study, Sharon Savage, MD, told the couple that she and her team believed they would be able to find the genetic mutation that caused dyskeratosis within five years. Thanks in part to the research done on little Ayelet, it only took two.
Seth remembers the day that he and his wife, who had wanted to have more children but didn't want to risk the one-in-four odds that another son or daughter would suffer from the same disease, got the news. For the Galenas, whose blog documenting Ayelet's health struggles had become popular in the Jewish community, where genetic diseases can be a major risk, the news that the NIH had found both the gene that caused dyskeratosis and a way to detect it before birth was nothing short of a miracle.
Hindy recalls meeting President Obama at a Hanukkah reception held at the White House. There, she thanked the president, who had sent a condolence letter when Ayelet passed away. "He gave me a huge bear hug. He said he was so sorry, and I said, 'I want you to know that the NIH gave us a future.' I felt great that I was able to thank him personally for the continued support of the NIH."
The Galenas went through IVF to create several embryos that were then tested in a lab. One in four of them had the gene that causes dyskeratosis, while another one in four was a carrier for the disease. The healthy embryos were then frozen, with one implanted in Hindy. It took. They welcomed a son, Akiva Max, on June 7.
Akiva's name is full of meaning. It was the name of a first-century rabbi who contributed some of Judaism's most important writings. "Rabbi Akiva also lost a child, but he was the person who best represented somebody who kept looking to the positive," says Seth. "It clicked on a lot of different levels."
And among the first people the Galenas emailed to share the happy news were Savage and the other doctors who had worked with Ayelet during her brief life, including staffers at Cincinnati Children's Hospital Medical Center and Sloan Kettering in New York. "The responses from them – we love our family and friends, but they were in a way the most meaningful, because they knew us in a different way. They knew just how challenging the journey was and they appreciated the medical breakthrough," Hindy says. "I was just overwhelmed with emotion and gratitude."