An Experimental Procedure Could Help More Families Have Healthy Babies. But It ’s Not Allowed in the U.S.

When Noah Shulman was born a few days after Christmas 2016, his parents Kristelle and Evan had no reason to worry about him. The pregnancy went smoothly, and so did the birth. But within a few days of taking his first breath, Noah began to struggle. He wasn’t feeding, so he started losing weight. He was also lethargic. Several pediatricians reassured the Shulmans that they were probably just overly sensitive to Noah’s symptoms because Kristelle is a nurse and Evan is a physician assistant–a case of first-time-parent-white-coat syndrome. “They kind of dismissed us as neurotic parents,” says Evan. But when Noah strained to breathe, the alarmed Shulmans took him to the emergency room, and he spent the next few months in the hospital. After a harrowing month of medical emergencies that included seizures and a heart attack, the Shulmans learned that their son had a rare genetic disease that affected his mitochondria. About 1 in 4,000 people worldwide–20,000 in the U.S.–have mitochondrial diseases. Mitochondria are present in nearly every cell in the human body, and they provide energy for everything cells do, acting as the body’s molecular batteries. They also have their own DNA, and mutations can cause hearing loss, diabetes, muscle weakness, seizures and heart problems. There are no treatments for mitochondrial disorders, as it’s not yet possible to repair or alter the affected mitochondrial genes using gene therapy. Three m...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized fertility Research Source Type: news