Pompe disease is a neuromuscular metabolic disorder caused by a deficiency of an enzyme used to break down glycogen. Glycogen is a stored form of sugar used for energy. Without the enzyme to break down glycogen, a myopathy results causing progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.
Pompe disease has historically been divided into three forms defined by age of onset and progression of symptoms. More recently there has been a trend to divide the disease into two groups: infantile onset (involving the massive enlargement of the heart) and late onset (no heart enlargement).
Infantile, or early onset, is noticed shortly after birth. Symptoms include severe lack of muscle tone, weakness, and enlarged liver and heart. Mental function is not affected. Development appears normal for the first weeks or months but slowly declines as the disease progresses. Swallowing may become difficult and the tongue may protrude and become enlarged. Most children die from respiratory or cardiac complications before 2 years of age.
Enter John Crowley, biotech executive and entrepreneur, and a man played by Brendan Fraser in the film "Extraordinary Measures," due for release nationwide on January 22, 2010. In 1998, two of Crowley's children were diagnosed with Pompe disease. To further research towards a cure of Pompe disease, Crowley took over as CEO of Novazyme. In 2001 Novazyme merged into Genzyme Corporation. In 2003, Crowley's children began receiving enzyme replacement therapy. The radical new therapy is credited with saving his children's lives.
The movie is based on a book by Geeta Anand entitled, "The Cure: How a Father Raised $100 Million - And Bucked the Medical Establishment - In a Quest to Save His Children," and stars Harrison Ford, Brendan Fraser and Keri Russell.
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John Crowley
John Crowley
Movie Review. From his working class roots, John Crowley has finally begun to taste success in corporate America. Supported by his beautiful wife Aileen and their three children, John is on the fast track. But just as his career is taking off, Crowley walks away from it all when his two youngest children, Megan and Patrick, are diagnosed with a fatal disease. With Aileen by his side, harnessing all of his skill and determination, Crowley teams up with a brilliant, but unappreciated and unconventional scientist, Dr. Robert Stonehill (Harrison Ford). Together they form a bio-tech company focused on developing a life-saving drug. One driven to prove himself and his theories, the other by a chance to save his children, this unlikely alliance eventually develops into mutual respect as they battle the medical and business establishments in a fight against the system and time. But, at the last minute, when it appears that a solution has been found, the relationship between the two men faces a final test - the outcome of which will affect the fate of John's children.
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