Raising Awareness About Pompe Disease

Raising Awareness About Pompe Disease
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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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Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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