April 15, 2022 marks the 9th annual International Pompe Day, designed to help raise awareness and education around Pompe disease. The slogan of International Pompe Day is “Together We Are Strong,” highlighting the collective strength of this community. According to the International Pompe Association, there is a crucial way you can get involved in raising awareness. How? If you are a member of the Pompe disease community, the International Pompe Association is asking you to record a video discussing strength, resilience, friendship, community, and life with Pompe disease.

How to Raise Awareness on International Pompe Day

This year, the International Pompe Association wants to highlight the strength and connection within this community. In part, the organization wants to show how friendship and connection play a role in strength and resilience in the face of life’s troubles. To do this, the association is asking that those with Pompe record videos under 5 minutes long. You may record a video speaking about living with Pompe disease, and how connection has made you stronger, with anybody — friends, family members, doctors, or even other members of the rare disease community. The association will highlight these videos on its Youtube page and website. To learn more about how to record and submit your videos, head to the International Pompe Association website.

Not ready to make a video? That’s okay! Here are a few other ways that you can get involved for International Pompe Day:

• Read and learn. For example, the International Pompe Day blog shares a variety of stories and information. Understanding the lived experiences of others can increase overall awareness and connection.
• Raise awareness on social media. Feel free to share your story – or a story from others – using hashtags like #InternationalPompeDay, #PompeDisease, and #PompeDiseaseAwareness.
• Donate. You can donate directly to organizations like the IPF, or even purchase items through this shop. The proceeds go to Pompe disease research and awareness.

What is Pompe Disease?

GAA gene mutations cause Pompe disease, a rare genetic disorder which causes progressive muscle weakness. Because of these gene mutations, the body cannot process glycogen, a type of complex sugar. As a result, glycogen accumulates in cells, causing impaired tissue, muscle, and organ function. An estimated 1 in 40,000 Americans has Pompe disease. Without treatment, this disorder can be dangerous and life-threatening.

There are also three major subsets of Pompe disease:

• Classic infantile-onset. In this form, which is considered to be the most severe, symptoms manifest within a few months following birth. Without treatment, this form can be fatal within 2 years. Symptoms include muscle weakness, poor muscle tone, failure to thrive, breathing difficulties, an enlarged liver, and heart defects.
• Non-classic infantile-onset. Within this subtype, symptoms manifest around 1 year old. This condition may be fatal by early childhood, despite a lowered risk of heart failure. Symptoms include delayed motor development, drooping upper eyelids, cardiomegaly, and progressive muscle weakness.
• Late-onset. Some experts use “late-onset” to describe whether patients’ hearts are affected. However, in general, late-onset Pompe disease appears from late childhood to adulthood, and is more mild than the other forms. Symptoms include progressive muscle weakness (especially in the legs and trunk) and, potentially, respiratory failure.

Learn more about Pompe disease here.