According to a story from Pompe Disease News, April 15th will be recognized as the eighth annual International Pompe Day. This day is meant to spread awareness about Pompe disease among the general public and in the broader medical field. The International Pompe Association (IPA) chose this year’s theme as “Pompe Around The World,” with the slogan “Together We Are Strong.”
About Pompe Disease
Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of a certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.
Get Involved
For this year’s awareness day, the IPA is asking for patients to send in pictures–along with a brief description about themselves– via email to [email protected]. Make sure to include your age, name, and the country where you live. Click here for more detailed instructions.
These images will then be posted to the International Pompe Day blog, which goes live on the 15th. Organizations can also opt to demonstrate their support of the event by sending an email with their logo and name to [email protected].
The Acid Maltase Deficiency Association is also hosting an online store (found here) where supporters can purchase clothing and other items featuring the “Together We Are Strong” slogan. All revenue from the sales of these items will support the Pompe disease community.
