Evan Hromada will never know for sure what life would have been like had his metabolic condition not been detected shortly after birth. The 18-year-old from Edina is simply grateful that he’ll never have to know, because newborn blood screening identified the condition when he was three days old.
“I think that it saved my life,” Hromada said. “At the very least it made my life as normal as it could be.”
Hromada, a freshman at Marquette University in Milwaukee, spoke at the State Capitol Friday at an event to promote newborn blood screening. Testing discovered that he had galactosemia, a condition by which the body is unable to process the form of sugar known as galactose. The rare genetic condition makes dairy intolerable, and if unmanaged it can lead to speech impairments, cataracts, poor bone density and ataxia, a form of muscular degeneration.
The issue of newborn screening has been politically controversial in Minnesota. Privacy advocates sued the Minnesota Department of Health for the length of time that the state keeps newborn blood samples and for the ways beyond screening in which the samples are used. They prevailed when the Minnesota Supreme Court ruled in November 2011 that the state could not keep the blood samples indefinitely or use them for research without consent from parents.
The state started in early 2012 destroying some of the blood samples it had stored, though at the time it was still hoping to gain court permission to retain thousands of older samples. Gov. Mark Dayton last spring signed a bill allowing parents to give explicit permission for the state to save blood samples from newborns for research and testing.
There has also been debate in Minnesota and other states on whether testing should be automatic unless parents opt out of it, or whether parents should have the choice to opt in to testing. (Minnesota is an opt-out state.)
Hromada feels there has been harmful misinformation about how the samples are used. After the screening of newborns for diseases and genetic disorders, he said, the samples are mostly used to test screening systems to ensure their accuracy. He has become an advocate for newborn screening.
“I’ve benefited so much from it,” he said. “Without newborn screening, my life would have been so different.”
Through careful management of his diet, Hromada has avoided long-term complications. He acknowledged that it has been harder to maintain a strict diet now that he is on his own at Marquette, where the cafeteria workers haven’t always understood his requests for dairy substitutes or provided ingredient lists, but he is diligent.