Raising Awareness About Pompe Disease
Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Raising awareness about this rare genetic disease could mean more patients would benefit from earlier diagnosis and treatment. Here are some facts about Pompe disease, and efforts to make it more widely known.
What is Pompe disease?
Pompe disease is characterized by the abnormal buildup of a sugar molecule called glycogen inside cells. This buildup impairs the working of different organs and tissues, especially the heart, respiratory, and skeletal muscles.
Pompe disease symptoms can manifest shortly after birth, in which case the condition is called classic infantile-onset Pompe disease. They can also appear by the first year of life (non-classic infantile-onset Pompe disease) or later in life, any time from childhood to adulthood (late-onset Pompe disease).
Why is greater disease awareness important?
Like many other rare diseases, Pompe disease remains a severely under-diagnosed or misdiagnosed condition and one that is often misunderstood.
Most physicians and other healthcare professionals have little knowledge of the disease, which can resemble other disorders. As a result, many patients can go years without knowing the underlying cause of their symptoms.
The sooner a patient receives a diagnosis, the sooner treatment can begin. This can help maintain or improve their quality of life.
Greater awareness also tends to bring more research support, which could lead to new and better therapies, and possibly a cure.
What is International Pompe Day?
Awareness and education are crucial to increasing the recognition, diagnosis, understanding, and management of Pompe disease.
To that end, International Pompe Day takes place every year on April 15. On that day, advocates educate, heighten awareness, and raise funds for Pompe disease care and research.
Organized by the International Pompe Association, a federation of Pompe disease patient groups, the day is set aside to foster international awareness of the disease. The slogan for the day is “Together We Are Strong.” With a focus on new research and possible new treatments, the theme this year was “Hope for the future.”
The organization also created a blog as an outlet for patients, families, physicians, scientists, and industry representatives to express their “hopes” for Pompe disease. For example, one person hoped the community stays safe during the COVID-19 outbreak, while the Duke Pompe Disease Clinical and Research team voiced hope for its patients and study advancements. Also, a person in New Zealand hoped for a Pompe disease standard of care in her country.
Supporters also upload photos for posting on the International Pompe Day website and participate in activities taking place worldwide. Organizations globally, including the Pompe Support Network in the UK, also take part.
Last updated: Sept. 8, 2020
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