April 15th, 2020 will be the 7th annual International Pompe Day, a day of recognition and fostering awareness around Pompe disease organized by the International Pompe Association. Like many rare diseases, Pompe disease doesn’t receive much attention in research or medicine, meaning that treatment options for patients living with it are limited. However, this community has possible breakthroughs just over the horizon, and this year’s theme for International Pompe Day will be “Hope for the Future.”
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 of Pompe disease 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.
The International Pompe Association is asking for community members to participate this year by expressing their hope for the future.
Want to participate in International Pompe Day? Here’s how:
- Take a photo of yourself or a loved one featuring the color green.
- Send an email to firstname.lastname@example.org that includes:
- a subject that will be the title of your post
- body text that will be the text for the post, which should express your hope for the future
- attached photo
- Name, country of origin, and age
The post, if accepted, will be uploaded to the blog ipompeday.blogspot.com, which will go live on April 15th.
To learn more about the event, click here.