A Rare Disease Diagnosis

Liam Schroeder and his parents, Joan and Jon, are fighters – and that has made all the difference when Liam received a rare disease diagnosis.

When he was about 18 months old, Joan and Jon noticed Liam wasn’t talking much. He was also having trouble getting up from the floor, walking, and moving in ways that were typical of kids his age.

Joan and Jon consulted with Liam’s pediatrician, who put them in touch with a program in their home county that paired Liam with a physical therapist.

As the therapist and Liam worked to reach some missed milestones, the therapist noticed that it looked much more difficult for Liam to move his body than she expected. With permission, she reached out to Liam’s pediatrician to discuss testing and further treatment options.

A series of blood tests revealed a highly elevated marker for Muscular Dystrophy in Liam’s blood.

His pediatrician referred the family to Gillette Children’s, where they met with pediatric neurologist Jamie Eskuri, MD. After additional genetic testing, Dr. Eskuri officially diagnosed Liam with Duchenne Muscular Dystrophy (DMD) on December 21, 2021. Needless to say, it was a tough Christmas – but the family of three forged ahead.

“At that time, we had the mentality of, well, ‘we’ve got this’,” Joan remembers. “And so that’s how we approached things.”

Duchenne Muscular Dystrophy is a genetic neuromuscular disorder that causes progressive muscle loss and weakness. These symptoms lead to serious medical problems, especially with the heart and lungs. The condition primarily affects males.

At the time of Liam’s DMD diagnosis, the Schroeder family lived in a split-level home. They made the decision to move to a single-level house in the same community that would better accommodate Liam’s mobility needs.

Liam continued receiving care at Gillette, and in the summer of 2023, the Schroeders learned about Elevidys, a gene therapy treatment for Duchenne Muscular Dystrophy that had just been approved by the FDA. Working with Dr. Eskuri, Joan and Jon decided to see whether Liam would qualify for the treatment – and he did.

“It was an intense process – very, very stressful, challenging, and upsetting,” says Joan. “You apply to your insurance company, and then you need to jump through all these hoops.”

The Schroeders were denied the Elevidys treatment three or four times, despite checking every box and going through every test required by their insurance company. Joan and Jon connected with local news outlets and reached out to their local and state representatives to raise awareness and support.

Working with a family member who specializes in insurance litigation, Joan, an analytical chemist, and Jon, a librarian, wrote and sent a family letter to help plead Liam’s case. “I would image this is one of the only family letters they received with references and footnotes!” Joan laughs.

Their tenacity paid off. Liam was finally approved for the Elevidys treatment, a one-time, single infusion that, at an estimated cost of $3 million per dose, is one of the most expensive drugs in the world.

The drug’s impact was immediate. Within 24 hours of receiving the treatment, Liam’s words exploded (and he’s been “talking, talking, talking” ever since) and he helped his mom move rocks as part of a landscaping project at home. He runs, jumps, enjoys school, loves creating art, reading, and camping – all with a smile.

“He’s such a fighter,” Joan says. “I don’t think he knows that he’s a fighter. He just knows what he needs to do, and that’s the way he’s always been. He’s a happy-go-lucky kid.”