Pompe Disease Has Huge If Not Fatal Effects On One’s Heart… There Are Resources Out There To Better Understand This Disease

Pompe disease is a rare neuromuscular genetic disorder that affects approximately 5,000 to 10,000 people world wide. It occurs in babies, children, and adults who inherit a defective gene from each parent. The disease manifestations can vary greatly from one person to the next.

I have to admit, until I was contacted to write about Pompe disease, I had only heard it mentioned once or twice in nursing school. It is one of those diseases that you will come across once through out your entire clinical career. This disease has devastating ramifications on both the patient, and the family that has to live with it on a daily basis.

Progressive muscle weakness is the most common symptom in both the infantile-onset and late-onset Pompe disease. The muscles used for breathing and generalized movement are the most affected. In infant-onset the heart is severely affected. When muscles that perfuse your body tissue of oxygen are compromised, there are huge effects that occur in domino fashion. Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.

Why is this information important to you? You never know who might be searching for a diagnosis. Either a friend of a friend, or that neighbor down the street’s granddaughter. Knowledge is power, especially when it comes to a gravely devastating disease like this.

It is important to understand the way that genes are transferred from one generation to the next. Our ancestors directly affect what we become and how our lives will ultimately pan out health wise. There is research going on everyday to further understand, treat and ultimately cure Pompe disease.

If you or someone you know is affected by Pompe disease, know you are not alone. There are resources and communities out there to help you with every facet of your life. Pompe community is a great place to start…

• United Pompe Foundation
• The website of the Pompe’s Group of the Association for Glycogen Storage Disease (UK)
• International Pompe Association – A federation of Pompe disease patient’s groups world-wide.
• Genzyme’s Pompe Information site
• FDA Approval News for Myozyme
• Canadian Association of Pompe

via Pompe Community
Wiki External Links
National Institute of Neurological Disorders And Stroke