Pompe Disease and the Real Story Behind Dr. Stonehill, John Crowley, and ‘Extraordinary Measures’

“Don’t hope for a miracle. Make one,” is the powerful tag line from “Extraordinary Measures,” a 2010 dramatic film starring Brendan Fraser, Harrison Ford, and Keri Russell.

John Crowley delivered the keynote address at the 2026 MDA Clinical & Scientific Conference.

The movie is inspired by the true story of John and Aileen Crowley, a couple whose lives take a turn when their two youngest children are diagnosed with Pompe disease, a rare and often fatal genetic disorder that causes progressive weakness in the heart and skeletal muscles. With the clock ticking, Crowley (portrayed by Brendan Fraser) becomes a man with a mission and teams up with Dr. Robert Stonehill (played by Harrison Ford), an unconventional scientist who may have a theoretical solution to slow the progression of Pompe. Together, they face a series of challenges, including clinical trials, corporate interests, and the intricacies of medical bureaucracy. The movie showcases the lengths to which parents will go to save their children.

John Crowley, the real-life father depicted in the movie, delivered this year’s keynote address at the 2026 MDA Clinical & Scientific Conference, the largest global gathering of neuromuscular clinicians, researchers, industry partners, advocacy organizations, and community members. John is currently the President and CEO of the Biotechnology Innovation Organization (BIO), an advocacy organization representing biotech companies, industry leaders, and biotech associations in the United States and around the globe. His journey to becoming a biotech leader started after his children were diagnosed with Pompe.

In his speech, John acknowledged that the movie was a fictionalized version of his family’s story. But he assured the audience that it rang true in essential details that have helped raise awareness of rare diseases like Pompe — and of the challenges of developing therapies.

“In many ways, the film ‘Extraordinary Measures’ was a vehicle for our family to be a proxy for the many families, children, and adults living and thriving in the world of rare diseases,” he told the audience at MDA’s conference. “And to show, in one family’s journey, what it takes to live, to thrive, to navigate a very complex system to make newer and better medicines.”

This exposure has given John and his family a platform to speak for the neuromuscular community. “It was an honor for our family. It gave us a vehicle to go to Washington and advocate through new legislative pathways for rare diseases to highlight the importance of accessibility,” he said.

How the Crowleys’ story began

Pompe disease, also known as acid maltase deficiency (AMD), is caused by mutations in the GAA gene, which carries genetic instructions to make an enzyme called acid maltase, or acid alpha-glucosidase (GAA). The body uses this enzyme to break down glycogen, a stored form of sugar used by the cells for energy. Muscle cells, including those of the heart and respiratory system, rely on glycogen to power movement. Mutations in the GAA gene reduce or eliminate the GAA enzyme, leading to the accumulation of glycogen inside the cells. Without treatment, the glycogen eventually builds to toxic levels, causing muscle damage.

There are two types of Pompe disease: infantile-onset (symptoms appear by age 1) and late-onset (symptoms appear in adults or children over age 1). The age of onset and severity of the disease are both related to the degree of enzyme deficiency.

John and Aileen Crowley’s two youngest children, , were diagnosed with infantile-onset Pompe in 1998, when Megan was 15 months old and Patrick was an infant. They were told the children would not live to age 2.

“We went through a lot of emotions — the grief, the denial, the anger — and then we settled on determination,” John says.

In his drive to save his children, John left his position as a marketing executive at the large biopharmaceutical company and co-founded the biotech startup Novazyme Pharmaceuticals with William Canfield, MD, PhD, a glycobiologist from the University of Oklahoma Health Sciences Center. They on an experimental treatment for Pompe disease.

“For us, drug research was very personal, and it was not only about making a great medicine to save our children and the lives of other people living with Pompe — it was to do it as quickly as possible,” John says.

A real life-saving treatment

In “Extraordinary Measures,” hope for the Crowleys came from Dr. Stonehill in the form of a groundbreaking enzyme replacement therapy (ERT), which slowed the progression of the disease, allowing the children’s muscles, especially the heart and lungs, to function better. While Dr. Stonehill is fictional (scroll down to Where are they now? to learn more), ERT is not.

ERT works by introducing a version of the missing GAA enzyme into the bloodstream to help break down the buildup of glycogen. Treatment with ERT has been shown to extend life expectancy; however, ERT is not a cure.

There are currently three ERTs approved by the US Food and Drug Administration (FDA) for patients with Pompe disease:

• Alglucosidase alfa (Lumizyme or Myozyme) is approved to treat both types of Pompe at any age.
• Avalglucosidase alfa (Nexviazyme) is approved to treat late-onset Pompe in people ages 1 year and older.
• The combination therapy cipaglucosidase alfa-atga (Pombiliti™) + miglustat (Opfolda™) is an advanced ERT option available for adults with late-onset Pompe.

Where are they now?

The character of Dr. Stonehill is actually a composite, incorporating the characteristics and efforts of various researchers, including Dr. Canfield (John’s partner at Novazyme) and MDA Board Member Barry Byrne, MD, PhD, who is Associate Chair of Pediatrics and Director of the Powell Gene Therapy Center at the University of Florida. Both physicians are prominent figures in the field of Pompe research, and their work has been instrumental in advancing the understanding and treatment of the disease.

“I had the good fortune to meet John Crowley at a National Institutes of Health meeting soon after Megan and Patrick were diagnosed,” Dr. Byrne recalls. “Completely by chance, I was seated with John and Bill Canfield at lunch, and we learned of the pioneering work Bill was doing to enhance the effectiveness of GAA through protein engineering. My lab helped establish the basis for enhanced activity of highly phosphorylated GAA. I have been delighted to continue productive collaborations with a variety of sponsors to improve the lives of those living with Pompe disease.”

John’s entrepreneurship at Novazyme (later acquired by Genzyme Corporation) directly led to the approval of the first ERT drug for Pompe in 2006. He then founded two other biotech companies that focused on developing treatments for rare genetic disorders before becoming the President and CEO of BIO.

Megan and Patrick are adults who continue to defy the odds thanks to their parents’ determination and love and the miracles of modern medicine. Megan, 30, earned a master’s degree and is a social worker at the Make-a-Wish Foundation. Patrick, 28, works in a flower shop staffed by people with disabilities.

The mission continues

The treatment landscape in Pompe has vastly changed since Megan and Patrick’s diagnoses.

“The day of a patient being diagnosed with Pompe disease and a doctor telling the family or the patient, ‘I’m sorry, there’s nothing we can do’ — that’s no longer acceptable. Now it’s, ‘We have options. Let me discuss what these options are with you,’” John says.

However, his mission is not over. Researchers are continuing to refine ERT and explore new ways of treating Pompe.

“A number of new modalities for treating Pompe disease are on the horizon and actively being investigated, including improved central nervous system-targeted therapies, gene editing, and gene therapy that will target the musculature and brain,” Dr. Byrne says.

The role of patients and families in the development of therapies is also changing. “Twenty-five years ago, patients were not viewed as part of the ecosystem of drug development,” John says. “They were the ones who needed the medicine, and after a medicine was approved, then a biotech company would be engaged. Now, that paradigm has completely shifted. Parents, families, and patients are involved in the very early days of research, oftentimes providing that early funding. They’re involved in the design of clinical trials.”

John Crowley, with assistance from the Hollywood stars who helped tell his family’s story, has been instrumental in bringing about this shift. Increasingly, families and people living with rare diseases are at the forefront of efforts to develop treatments and search for cures.