Son’s Rare Genetic Disease Brings out the Best in Marlis O’Brien

Marlis O'Brien relied on numerous organizations for guidance after her young son was diagnosed with a rare disease. That experience inspired her to volunteer and be there for others who need help.

Looking back, the signs were there. Creases in his elbows and knees, eyes that appeared to always be looking down, trouble lifting his head and rolling over, frequent upper respiratory infections. But as first-time parents, Marlis O'Brien and her then-husband, Kevin, didn't have anything to compare their newborn son, Erik, with.

"His pediatrician kept telling us not to worry because every child develops differently, but around six months of age, they noticed Erik had some hypotonia and that he could do the splits with his legs and that his toes would touch his shin bones," Marlis tells us. "He just seemed to be very 'plastic,' for lack of a better word."

Initial test results were enough to get Erik referred to a geneticist and pediatric neurologist at Mayo Clinic Health System in La Crosse, Wisconsin, where Marlis works as a Training Center coordinator. More testing and examinations followed, as did multiple rounds of physical therapy, occupational therapy and speech therapy. Still, young Erik made little progress during the first two years of his life. "He wasn't even able to hold his own bottle or sit up on his own," Marlis says. "He was really falling behind." Then a new symptom appeared. "He started doing this strange thing where he'd turn his head and look out of the corner of his eyes, and his eyes looked like they were quivering," Marlis says.

At that point, Erik was referred to Mayo Clinic's Rochester campus, where Nancy Kuntz, M.D., then a Mayo pediatric neurologist, "took one look at him" and made a preliminary diagnosis. "She said, 'I think he has a neurotransmitter deficiency,'" Marlis says. "But she said it was going to take a spinal tap to be sure."

The test confirmed that Erik had been born with a rare genetic disease called pediatric neurotransmitter deficiency. So rare, in fact, that Marlis says Erik was one of just 24 other children in the world to receive the diagnosis. Fortunately, one of those 24 had also been diagnosed and treated by Dr. Kuntz, providing experience that would help guide Erik's care.

"She started him on a medication similar to what some Parkinson's disease patients take, and within just a few months, he was walking on his own and holding his own bottle," Marlis says. "He's continued to improve ever since."

Erik, now a junior in high school, isn't the only member of his family whose life was changed dramatically because of his diagnosis. Marlis recently told La Crosse's that having a front row seat to Erik's treatment journey has inspired her to volunteer her time and share her considerable life experiences with organizations like St. Clare Health Mission, the American Lung Association, and the Wisconsin Asthma Coalition. "He's made me a much better person," Marlis tells the station about Erik. "He's taught me to open my eyes to other people that might be struggling."

It's a decision that the station rewarded when it named Marlis its most recent "Jefferson Award" winner, an honor given to local unsung heroes. And although it's appreciated, Marlis tells us she could honestly do without the recognition. "I prefer to hide in the shadows and help out anonymously," she says. "I do, however, realize the importance of casting light on the fabulous organizations that have helped us."

You can help us by reading more of Marlis and Erik's story here. Then help us some more by sharing your comments below before using the social media tools atop this page to share this story with others.