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Arriving full-term amidst a flurry of excitement, Tygh Derossett’s birth at a Kentucky hospital in 2016 mimicked that of most newborns. He cried, he received Apgar scoring, and he got a bath. On his second day of life, Tygh’s health care team took a few drops of his blood and sent it to Kentucky’s newborn screening lab.
A few days later, Tygh left the hospital with his parents, Amanda and Aarron, and the new family traveled to their home just south of the state line in Tennessee. Having their first baby was everything Amanda and Aarron imagined, and all was well. When they brought Tygh to his one-week checkup, they assumed everything would be normal. It wasn’t.
“The pediatrician sat us down and said, ‘Tygh has a metabolic disease,’” Amanda says. “We were like, ‘Okay, he’s just going to be skinny.’ Then he followed up with, ‘It’s fatal, and there’s not a cure.’”
Tygh’s newborn screening result was consistent with Krabbe disease. Rare, degenerative, and often incurable, the illness usually claims infants affected by the most severe form of Krabbe disease, like Tygh, within the first two years of life.
That appointment set the family on a journey that, unbeknownst to them, had actually started a week earlier when, as part of Tygh’s newborn screening, a test was performed by Mayo Clinic Laboratories for Krabbe disease, as provided through the Kentucky Department of Health’s Newborn Screening Program. Kentucky is one of just nine states that currently includes newborn screening for Krabbe disease, which is estimated to affect about 1 in 100,000 children.
Read the rest of Tygh's story on Mayo Clinic Laboratories Patient Spotlight.