Newswise — During the weekend, a film called Extraordinary Measures, starring Harrison Ford and Brendan Fraser, debuted in theatres. Based on a true story, the film highlights a condition called Pompe disease. The main character, John Crowley, portrayed by Fraser, started a company in a quest to find a cure for two of his three children who were diagnosed with the disease.
Though rare, there are many individuals living with Pompe disease, including some in the Charlottesville, Virginia area. Shawn Lipinski, a certified genetic counselor in the Division of Medical Genetics at the University of Virginia Children’s Hospital, works with these patients.
“Along with other physicians here at UVA Health System, I care for six adults with this rare genetic disorder through our Lysosomal Storage Disease Treatment Program. The patients see us in genetics along with cardiologists, pulmonologists, physical therapists, and other specialists,” Lipinski says.
According to Lipinski, Pompe disease occurs in an estimated one out of every 40,000 individuals. It is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal hydrolase acid alpha-glucosidase, which breaks down glycogen. Without enough of this enzyme, patients experience an accumulation of glycogen in the body’s tissues. Cardiac and skeletal muscle tissues are affected primarily.
In the fatal infantile-onset form, the disease presents rapidly with hypotonia—a reduction in muscle tone—generalized muscle weakness and hypertrophic cardiomyopathy. Death usually occurs within one year of birth due to cardio-respiratory failure. The late- onset form of Pompe disease is clinically heterogeneous, with greater variation in age of symptom onset, clinical presentation and disease progression.
“Patients with Pompe disease often struggle to do every day tasks, use ambulatory devices such as canes and walkers and often need breathing support during the last few years of struggling with the disease,” says Lipinski. In the movie, Ford plays a scientist who helps develop an enzyme replacement therapy to help Crowley’s children and others with Pompe disease. In real-life, Crowley’s children are living lives he firmly believes have been extended due to the therapy. This same therapy has also given Lipinski’s patients positive stories of hope and survival.
“There is currently an enzyme replacement treatment that is available to patients on an expanded access protocol. The patients we see receive the treatment bi-weekly,” adds Lipinski.
“We hope that all patients with Pompe disease will be able to receive this medication once the treatment is approved by the FDA.”