A rare genetic disorder kept baby Rylae-Ann from lifting her head. Her parents held her at night so she could breathe comfortably and sleep. Now a breakthrough gene therapy holds promise for Rylae-Ann and others suffering from devastating illnesses.
Rylae-Ann Poulin’s parents thought their daughter was having seizures. Doctors thought she might have epilepsy or cerebral palsy. Neither was the case.
Judy Wei, Rylae-Ann’s mother, saw a Facebook post. It mentioned a child with AADC deficiency. The condition is inherited. AADC is an enzyme. It helps create neurotransmitters in the nervous system. Without enough AADC, cells in the nervous system (neurons) can’t communicate. The extremely rare disorder afflicts only about 135 children worldwide—many in Taiwan.
Wei was born in Taiwan. She and her husband, Richard Poulin III, sought a doctor there. Wei and Poulin learned their daughter qualified for a ground-breaking trial at Taiwan’s PTC Therapeutics.
In 2019, Rylae-Ann received treatment in Taiwan. Hers was the first brain-delivered gene therapy for AADC deficiency. The one-time surgery involved a thin tube inserted into a hole in the skull. Through the tube, doctors delivered a working version of the problem gene. The new gene helps the brain release a chemical neurotransmitter that aids memory, movement, sleep, learning, and more.
About 30 U.S. studies are also testing brain-delivered gene therapies. Those include treatments for AADC as well as Alzheimer’s, Parkinson’s, and Huntington’s diseases.
Another AADC patient is eight-year-old Rian Rodriguez-Pena. Rian received gene therapy shortly before her fifth birthday. Two months later, she held her head up for the first time. She soon started using her hands and reaching for hugs. Seven months later, she sat up on her own.
“It’s a completely different life,” says Rian’s mom.
Still, scientists say brain-delivered gene therapy presents challenges. For example, timing is critical. Earlier in life is usually better because diseases often cause other problems over time.
Scientists also hope someday to deliver gene therapy without dangerous brain surgery. But that will require evading the blood-brain barrier—an amazing roadblock God designed to keep viruses and other germs out of the brain.
Another hurdle is cost. Gene therapies can run into the millions of dollars. Drugmakers say they want to make sure people get needed treatments. How that happens remains to be seen.
Meanwhile, Rylae-Ann and Rian keep improving. Rian is playing, walking, and learning to talk. Four-year-old Rylae-Ann is running, swimming, reading, and riding horses. “So many amazing things that doctors once said were impossible,” says Wei.
November 13, 2019, is important in Rylae-Ann’s household. It’s the day an 18-month-old who could barely move received an experimental gene treatment. Her parents call it “reborn day.”
Why? The brain is humans’ most complex and mysterious organ. God even created it with its own defense system. Imagine thinking of the reviving of this amazing organ as being “reborn.” Consider how this points toward our spiritual need for being “born again”! (John 3:3)
