Welcome to Friday Facts! here on the Knowledge Safari blog. Each Friday we aim to shine the light on a different segment of special needs. This week we are shining the light on Pompe Disease.
Have you ever heard of Pompe Disease? Chances are you might not have - it is a very rare genetic disease. But you might be hearing about it more - because of the movie that has just opened in most citites titled "Extraordinary Measures". The movie stars Harrison Ford and Brendan Fraser and is based on a true story about a man named John Crowley and his family.
The Crowely's have 2 daughters who have Pompe Disease, the book and the movie chronicle their lives.
What is Pompe Disease?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.
The above is taken from the National Neurological Disorder and Stroke Website.
Want to learn more? Helpful and interesting links:
An interview with author of "The Cure", Greeta Anand of the Wall Street Journal
Pompe Community
United Pompe Foundation
National Neurological and Stroke Website
Gilbert, AZ mom feels hopeful about son with Pompe Disease.
Have you seen the movie? What did you think? You can tell us here or REVIEW it on our site!
Do you know of any other Pompe Disease resources? Let us know we'll add them to our RESOURCES section on the site.
Have you ever heard of Pompe Disease? Chances are you might not have - it is a very rare genetic disease. But you might be hearing about it more - because of the movie that has just opened in most citites titled "Extraordinary Measures". The movie stars Harrison Ford and Brendan Fraser and is based on a true story about a man named John Crowley and his family.
The Crowely's have 2 daughters who have Pompe Disease, the book and the movie chronicle their lives.
What is Pompe Disease?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.
The above is taken from the National Neurological Disorder and Stroke Website.
Want to learn more? Helpful and interesting links:
An interview with author of "The Cure", Greeta Anand of the Wall Street Journal
Pompe Community
United Pompe Foundation
National Neurological and Stroke Website
Gilbert, AZ mom feels hopeful about son with Pompe Disease.
Have you seen the movie? What did you think? You can tell us here or REVIEW it on our site!
Do you know of any other Pompe Disease resources? Let us know we'll add them to our RESOURCES section on the site.
.JPG)
Posts
3 comments:
Thanks for the information. I haven't seen the movie yet, but I really want to. It looks like a bit of a tearjerker, though!
I saw the preview for that movie recently and burst into tears. Thanks for the links. I will check them out.
I haven't seen the movie yet, but I am planning to this week. I am definately taking tissues. My daughter has a metabolic disorder that is similar to Pompe Disease in many ways. It's great that you are trying to raise awareness!
Post a Comment