It takes “Extraordinary Measures” to promote Pompe Disease awareness
Sometimes, it takes a blockbuster movie like Extraordinary Measures, in theaters now, to increase public awareness of a rare and neglected genetic disease. The movie, which stars Brendan Fraser, Keri Russell and Harrison Ford, is inspired by the story of John and Aileen Crowley, who have two children with Pompe disease. In the 1990’s, John Crowley collaborated with a scientist named William Canfield in an ongoing effort to develop treatment for Pompe disease.
Pompe disease (also known as Glycogen Storage Disease Type II) affects an estimated 1 in 40,000 people in the United States and is caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. Pompe disease is caused by mutations in a gene called GAA and is inherited in an autosomal recessive manner, which means that two mutated gene copies, one from each parent, are necessary to cause the disease.
Myozyme®, developed in part and manufactured by Genzyme, is currently the only approved treatment for Pompe disease. Last week, however, the LA Times wrote that researchers at the University of Florida reported progress in identifying a treatment to help patients in late stages of the disease breathe without the assistance of a ventilator.
In truth, there are thousands of families like the Crowleys nationwide, each fighting to bring attention to a rare genetic disease that affects a loved one. These families have found heroes at research institutions, foundations and biotech companies working tirelessly to develop treatments for such diseases. Unfortunately, these efforts usually fall short of developing effective treatments and, too often, another brave individual eventually passes away.
If you or someone you know is a rare genetic disease advocate, please share your story in the comments below (or email us at heroes@accessdna.com). We are committed to promoting disease awareness in order to help improve disease management and treatment options. We would love to work with you.
