Extraordinary measures

Production and year: USA 2010 Genre: Drama Director: Tom Vanghaun Screenplay: Robert Nelson Jacobs Cast: Brendan Fraser, Harrison Ford Medical topic: Pompe disease Description: Glycogen storage diseases are a group of metabolic disorders. These include type II glycogen storage disease, also known as Pompe disease. It is caused by a congenital deficiency of the lysosomal enzyme alpha-1,4-glucosidase, also known as acid maltase. Although this enzyme’s role in glycogen breakdown appears to be minor, its deficiency has serious consequences. Glycogen accumulates in tissues—vacuoles filled with glycogen appear in the cells of the lungs, liver, heart, and other organs. These vacuoles impair the function of cells and entire organs. Based on true events, the film depicts the research process aimed at producing the enzyme needed to combat this, as yet incurable, disease. John Crowley (Frasier) takes on the task and reaches out to Dr. Stonehill (Ford), a theoretical scientist who has published a detailed description of the production process and the mechanism by which the enzyme will be absorbed by the human body. A battle begins for sponsors and to meet all the requirements for scientific research, and finally, dramatic decisions are made regarding the future of John’s children. I remember phrases from biochemistry textbooks—such as Bańkowski 2007—stating that there is no cure for Pompe disease. Now the situation is changing for the better. ;)