The New Film Extraordinary Measures Sheds Light on Pompe Disease and the Struggle to Find Cures for Rare Diseases

Extraordinary Measures, a film starring Harrison Ford and Brendan Fraser, hits theaters today. It tells the story of John Crowley and his “race to find a cure for Pompe disease, a rare muscle disorder that threatened to kill two of his three children.”

Pompe disease affects about 5,000-10,000 people worldwide. Genzyme’s online Pompe Community describes Pompe as “a progressive, multisystemic, debilitating, and often fatal neuromuscular disorder.” The disease “is linked to an inherited deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which is responsible for the breakdown of glycogen inside the cells.” The disease affects patients of all ages and “is always characterized by progressive degeneration of skeletal muscles (proximal and respiratory) and, in infants, cardiac muscle.” The rate of progression varies, ranging from “a rapidly progressive course that is usually fatal by one year of age,” to a more variable but “still relentless, progressive course resulting in significant morbidity and often premature mortality.”

Genzyme chief executive Henri Termeer “hopes to use the film as an opportunity to educate the world about the efforts of hundreds of researchers, scientists, and others who are still working to perfect drug therapies for Pompe.” About 100 Genzyme employees plan to see the film together on opening day. Genzyme spokesperson Lori Gorski said “This is our lives played out on screen, and we want to experience it together.” The film is based on the book The Cure - How a Father Raised $100 Million and Bucked the Medical Establishment in a Quest to Save His Children, written by Geeta Anand.

The Crowley family also has a website that recounts the family’s story and the race to develop a treatment for Pompe disease. It also features links to The United Pompe Foundation, the Muscular Dystrophy Association, the Children’s Rare Disease Network, and other charitable organizations involved in the fight against Pompe disease.

John Crowley has also written his own book, a memoir titled Chasing Miracles: The Crowley Family Journey of Strength, Hope, and Joy. It tells the story of how “the Crowleys set out to do ‘whatever it takes’ against phenomenal odds to help Megan and Patrick first to survive, and then to thrive - and to keep their family, including oldest son John, Jr. together and their marriage strong.” It is scheduled to hit bookstores February 2. For regular updates about the Crowley family, the upcoming book, and more, you can follow John Crowley on Twitter.

Although Extraordinary Measures, by focusing on the Crowley family and their attempts to find a cure, will likely raise awareness about Pompe and other rare diseases, blogger Kevin O’Donnell says that the movie doesn’t tell the whole story of the heroic efforts by the international community of researchers, physicians, and others that led to the development of a treatment for this disease.

O’Donnell’s blog, Pompe Disease — The Real Story, started in April 2009 in part as a reaction to Geeta Anand’s The Cure. O’Donnell wrote that the book’s story about John Crowley was inspiring and that he (O’Donnell) liked and admired Crowley, the book “misses the main narrative out altogether, along with most of the important milestones in the development of enzyme replacement therapy. However the most glaring omission is the complete absence of any mention - any mention at all - of the role played by the international patient community in bringing about the availability of a treatment. The alliance between patient groups, researchers and industry is a model for the development of treatments for other rare diseases.”

Additional Resources

The Pompe Registry is “an ongoing, observational database that tracks the natural history and outcomes of patients with Pompe disease. All Pompe disease patients are eligible for enrollment irrespective of their treatment status, and all physicians managing patients with Pompe disease are encouraged to participate in the Pompe Registry.” Click here to visit the main Pompe Registry website.

The Pompe information page from The National Institute of Neurological Disorders and Stroke offers a brief overview of the disease, with information about treatment, prognosis, and ongoing research.

There are currently 11 open Pompe disease clinical studies (10 are actively recruiting new patients) listed at ClinicalTrials.gov.

Genzyme’s Lysosomal Learning website bills itself as “an online resource on lysosomal storage disorders.” Healthcare professionals will find “detailed clinical information on lysosomal storage disorders, including incidence, pathogenesis, diagnosis, treatment options, and more.”

This article from the Boston Globe recounts the story of a Costa Rican family’s efforts to obtain treatment for their daughter, who was stricken with Gauche disease. The family eventually took the Costa Rican government to court to force it to cover the $160,000 annual costs of treatment. The article does an excellent job of illuminating the tough choices that must be faced when families and governments must decide how to allocate scarce healthcare resources. It also explains how Genzyme has been able to get governments around the world to pay full price for treatments, which the company says is necessary in order to fund additional research for treatments for other rare diseases.