Tale of two mothers: Bridge between families facing rare diseases brings hope

L-R Nora O’Brien-Lemanski, Callum O’Brien-Lemanski, Ella Shea Toward the end of Ella Shea’s three-month stay in Boston Children’s Hospital in 2011, when doctors shared the x-rays that showed the treatment for her rare disease was working, her parents were overjoyed. Ella had beat GACI (generalized arterial calcification of infancy), an extremely rare disease with an 85 percent mortality rate. Her mother Carrie had another thought—the next family facing this diagnosis will have more answers than we did. Carrie’s hunch ultimately blossomed into something much bigger. She and her husband Michael forged a tremendous bond with another Boston Children’s family struggling with GACI and paved the way for a network of families supporting each other as they parent children with GACI. Two years later, after an ultrasound showed brightness indicative of calcium in her unborn baby’s aorta, Christine O’Brien found herself Googling “arterial calcification on fetal ultrasound.” “What I read was heartbreaking. The results pointed to GACI. There had only been 100 cases worldwide, and there is no specific treatment. Most babies die from a heart attack in the first year of life.” The O’Brien-Lemanski family Callum O’Brien-Lemanski Like Carrie and Michael, Christine and her husband, also named Michael, were no strangers to rare disease. Their son Callum was born on August 6, 2010, at 25 weeks and spent four months in the NICU at Beth Israel Deaconess Medi...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our patients’ stories Source Type: news