A Lucky Find
Everett Olson was indeed fortunate that his mother had a change of heart. Even though she had initially turned down the screening, a nurse returned to Olson's hospital room three times to gently ask if she'd like to reconsider. Olson had been worried about her son getting any type of medication, including the antibiotic eyedrops that are routinely given to newborns. When the nurse pointed out that nothing harmful would enter Everett's body during the heel-prick test, she finally consented. "I believe God told me it was the right thing to do," she says.
The test was sent to the state health department, and his mother forgot about it. Everett seemed perfectly healthy as he got the hang of breastfeeding, so five days after her son's birth, Olson was caught off guard when the pediatrician told her at his first checkup that the screening suggested he might have galactosemia, a very rare inherited condition that interferes with a child's ability to break down the sugars in breast milk and most formulas. "I didn't believe it," she says. "I figured it was a false positive." She made an appointment to have Everett tested with a more conclusive blood test, but that very afternoon he became lethargic and jaundiced. "Then I wasn't able to wake him up," she says.
Everett was admitted to the neonatal intensive care unit, and his liver enzymes were found to be dangerously high. At such elevated levels, he was at risk of complications that could easily destroy his liver, wreak havoc on his kidneys, and cause brain damage. But because he had a tentative diagnosis from the newborn screening, doctors were able to bypass a long list of diagnostic tests to figure out what was wrong. Instead of treating the condition as jaundice, which would call for more intensive breastfeeding to help reduce levels of bilirubin in the blood, they urged Olson to stop nursing because the milk was acting like a poison. Over the next few days, as the diagnosis of galactosemia was confirmed, doctors were able to lower his liver enzymes to a normal range and prevent any damage to his organs. They switched Everett to an amino acid-based formula specially designed for children with conditions like his. The Olsons were shocked to learn that when galactosemia doesn't get diagnosed or treated, 75 percent of babies with the disease will die.
Today, laughing and wrestling with his father in his family's suburban home, 23-month-old Everett looks like the picture of health. For the rest of his life, he'll adhere to a diet avoiding milk and milk-based products (as well as legumes and tomatoes, which contain smaller amounts of the same sugar that's in milk), and he'll have his liver enzymes and blood levels monitored. Olson meticulously reads labels for unexpected dairy-derived additives in foods that could give him trouble. She, her husband, and their 4-year-old son, Emerson, have now all been tested and found to be carriers of the gene that causes galactosemia -- which Olson feels will be helpful for Emerson to know when he's interested in having children of his own some day. Looking at Everett, and knowing how differently things might have turned out without the newborn screening, she marvels, "It's amazing how a simple test could impact our lives in such a powerful way -- if the diagnosis was even one day later, Everett's outcome could have been very different. We can't believe how much joy he has brought to our lives."