Ella’s story: Two rare diseases and the NICU roller coaster ride

“Everyone tells you that the NICU is a roller coaster ride. What they don’t tell you is that it’s a customized roller coaster ride just for you. You never know what’s coming at you next,” says Carrie Shea, whose daughter Ella spent her first three months of life in Boston Children’s Hospital NICU. Today, Ella is a “remarkably normal little girl,” says Carrie. It’s quite a feat for the three-year-old who was born with GACI (generalized arterial calcification of infancy), an extremely rare condition with an 85 percent mortality rate, and diagnosed with PKU (phenylketonuria), a second rare genetic disorder, a few weeks after birth. But Ella and her parents seem to have a knack for beating the odds. An unusual prenatal ultrasound finding When she was 31 weeks pregnant, Carrie had a prenatal ultrasound to check her unborn baby’s birthweight. And the roller coaster ride began. “I’ve never seen this before,” the obstetrician told Carrie and her husband Mike. He sent the couple to Boston Children’s, where Jami Levine, MD, cardiology associate, diagnosed their baby with GACI. With GACI, a rare genetic condition inherited from both parents, calcium accumulates in the blood vessels and attacks the arteries or soft tissues, often leading to a stroke or heart attack before the baby reaches 6 months of age. “We promised each other that we were going to fight it and give our baby the best chance we could,” says Carrie. Ella was born two weeks later on May 24,...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our patients’ stories Source Type: news