The next frontier in fertility treatments
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 months after he was born, Noah passed away.
As they tried to accept their son’s death, the Shulmans were dealt another emotional blow. Their doctors bluntly told them that they should not expect to have a healthy biological child; because of the way mitochondrial mutations occur, each pregnancy would be like playing a game of reproductive roulette, the variable being how severely affected their baby would be. “They gave us a blank stare and very matter-of-factly told us there was really no way we would have another biological child,” says
