Stories about: GACI

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

L-R Nora O'Brien-Lemanski, Callum O'Brien-Lemanski, Ella Shea
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.”

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

ella  1“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.

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