Leo’s Pompe Disease Journey

Baseball, soccer, golf – you name it, Leo wants to play it. And for the most part, he does.  

“Leo is sports-motivated,” says his mom, Anne. “Though I don’t think he quite understands he can’t do every one of them.”  

When he was an infant, Leo was diagnosed with Pompe disease, a rare disease that leads to weakened muscles and, in Leo’s case, use of a power chair to help him move and play. So, while football might not be in his future, Leo is able to play quite a few sports that have been adapted for different abilities. He even scored an honorary first home run at a 2023 Minnesota Twins game in partnership with Gillette.

Now 7 years old, Leo was born a happy baby with a great sleep schedule and a healthy appetite. When he reached three months, however, his parents Anne and Denis noticed a change. Leo would eat and then spit up. Changes to his formula didn’t help and he started to lose weight – quickly.  

At that point in time, Leo had been diagnosed with Torticollis and started receiving physical and occupational therapy at Gillette. It was during his third session that one of his therapists asked Anne and Denis if they had talked to Leo’s primary care doctor about their concerns with Leo.  

“She said, ‘I don’t want to scare you, but I think this could be something serious,’” Anne said, recalling that day.  

Things progressed quickly from there. Leo’s therapist connected with his pediatrician, who called Anne and Denis the next day. Preliminary testing didn’t show anything abnormal, but they didn’t answer any questions about Leo’s symptoms, either. With a referral in hand, Anne made an appointment with a Gillette neurologist. The neurologist took one look at Leo and recommended rushing him to the neonatal intensive care unit (NICU). 

Leo was in respiratory failure. He underwent testing right away. An echocardiogram was administered that showed his heart had enlarged to fill nearly 2/3 of his chest cavity, crushing his left lung. Leo was rushed to a pediatric cardiology unit for specialized care.  

It was during his four-month stay at his local children's hospital that the St. Martin family learned Leo had Pompe disease. Pompe is a rare disease that leads to a deficiency in an enzyme that breaks down glycogen in the body. As glycogen builds up in organs and tissues, they break down, leading to symptoms including weakened muscles, failure to thrive, trouble breathing, feeding problems, and respiratory system infections. 

Anne credits Gillette providers with running the tests and coordinating with Leo’s care team at his local hospital to make this diagnosis. Leo soon began an enzyme replacement drug that is very good at clearing out glycogen from the heart, but not as great when it comes to other muscles – including those in his legs. 

Leo eventually returned to Gillette for care. “Nobody at Gillette is scared by rare diseases,” says Anne. “A lot of other places haven’t seen or treated Pompe. They don’t understand it.” 

The St. Martins have found that not only does Gillette understand Pompe disease, Leo’s care team also understands and supports Leo’s need to move. His physical and occupational therapists helped get him into a power chair when he was just three, and they continue working with him, motivating him to make the impossible, possible. 

“At one point, we were told Leo would never make certain milestones,” Anne shared. “But Gillette never said ‘no’. He sits up on his own, talks (a lot!), does math, reads, and is so funny. He’s making friends, initiating play with his classmates, and getting invited to birthday parties. Working with Gillette, we’ve seen miracles happen.” 

The experience Leo’s family had navigating his Pompe disease diagnosis and care has inspired them to give back to families on a similar journey. Anne and Denis founded a nonprofit, Pompe Warrior Foundation, dedicated to research, education, and empowerment for individuals and families affected by Pompe disease and other lysosomal storage diseases.

They will be joining Gillette Children’s and other individuals and organizations at the Rare Disease Advocacy Day on Tuesday, March 5, 2024, at the Minnesota State Office Building. This event will provide individuals with lived experiences with rare diseases and policy makers to engage on the issues important to their community.