Healthy Kids - Winter 2023


Hope and Grace UPDATE Though genetic testing didn’t generate answers, it still gave young Grace a fighting chance


hen 5-year-old Grace Holbrook was born, she was diagnosed with a congenital diaphragmatic hernia and congenital heart disease. At just 5 days old, she underwent surgery to repair the hole in her diaphragm. But she was still in bad shape.

“The problem with this hernia is that the lungs can’t develop, and when you combine bad lungs with a bad heart, it’s just a disaster,” says Liz Holbrook, Grace’s mom. “We were told that no baby with her combination of conditions had ever survived—they just didn’t know how to help these babies.” Grace’s doctors thought then-novel genome sequencing may unlock the secret to successfully treating her, or at least reveal the cause of her

rare double diagnosis and whether it would shorten her life. Her journey was documented in a 2017 Time magazine article. “They had told us that for a baby to have two congenital defects as massive as Grace’s, it would be very rare to not find some sort of genetic disorder,” says Liz. The weeks the Holbrooks waited for the results were a blur. The family was in limbo for the first month of Grace’s life, wondering if she would ever get to go home. And while the waiting was agony,

We were told that no baby with her combination of conditions HAD EVER SURVIVED —they just didn’t know how to help these babies. –LIZ HOLBROOK, GRACE’S MOM ‘‘

they were unaware of exactly how much was riding on the outcome— the lack of a genetic component meant Grace would be eligible for life-saving open-heart surgery. “I knew that the genetic testing was important to understand if she was eligible for heart surgery, but I didn’t really realize at the time how make-or-break it that was,” Liz says. Once DNA mapping ruled out any genetic conditions, Grace’s open-heart surgery was scheduled.

Pediatric surgeon Nick Saenz, MD, told Liz and her husband, Tristan, that the path forward was not going to be easy, but if they were willing to fight, he and his team would fight alongside them to give Grace a chance. Grace underwent heart surgery at Rady Children’s at only 1 month old.


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