Stories about: Loeys-Dietz syndrome

Courtney’s story: Piecing together a genetic puzzle

Courtney, who has Loeys-Dietz syndrome poses after her college graduation. Courtney Whitmore was born 22 years ago with a cleft palate, two clubbed feet and fists that were so tightly clenched they couldn’t be pulled apart. Since Courtney was an otherwise happy and healthy baby, neither her parents nor her doctor saw cause to be concerned about these seemingly unrelated conditions. What they didn’t realize was that these were the first clues to a genetic puzzle that would take ten years to unravel.

The next clue came at age 3.

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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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