With help from the genetics team, nurse
Debbie Ekonomides and her 2-year-old son, Michael, are learning
to live with his disease.
Genetic counselors help us grasp our biological
From the beginning, Debbie Ekonomides knew something wasn’t
quite right with her baby. He wasn’t eating well and seemed
lethargic. Her hunch proved prescient. Just a day after she and
her infant son, Michael, were discharged from the hospital, Ekonomides
received news that a blood test taken at the baby’s birth
showed he had galactosemia, a rare metabolic disorder.
Ekonomides brought her baby to Hopkins, where he would stay for
five days. She learned from Amanda Bergner, a genetic counselor,
that once Michael’s dehydration and jaundice were under
control, he would need to avoid milk products and certain other
foods for the rest of his life.