The IPA is excited to announce that the international Pompe community has chosen April 15 as the annual International Pompe Day! The goal of International Pompe Day is to foster international awareness of Pompe Disease and the slogan for our day is "Together We Are Strong". The IPA encourages everyone to become involved to show how STRONG our Community is – both in numbers and in passion! There are several ways that you can participate:
- Upload a photo to the International Pompe Day website.
- Participate in the International Pompe Day Activities!
- Become a Supporter! Organizations are invited and encouraged to become Supporters of International Pompe Day by submitting their logo (or name) for publication on the International Pompe Day website. Please email your logo to InternationalPompeDay@worldpompe.org
- Buy Your Official International Pompe Day Merchandise! Merchandise is available at the International Pompe Day Shop on Cafe Press. The Shop is hosted by the Acid Maltase Deficiency Association and proceeds will go towards Pompe Disease Awareness.
International Pompe Day
To celebrate International Pompe Day on 15th April 2017, IPA has expanded the annual art contest to include any art form that shows off the talents of individuals living with Pompe and their family members. Choosing winners of the ToP Award will be a challenge in itself; but our aim is to celebrate the wide range of talents within the international Pompe community. All submissions will be displayed in a special section of the IPA website after the event.
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For Immediate Release
April 15, 2016 will be the Third Annual International Pompe Day. The International Pompe Association (IPA), with the support of the global Pompe community, launched International Pompe Day in 2014. The goal of International Pompe Day is to raise global awareness of Pompe disease, a rare neuromuscular condition that affects approximately 1 in 40,000 people around the world.
When we launched International Pompe Day, the Pompe Community selected “Together We Are Strong” as its motto. We believe that as a united community of patients, family members, friends, scientists, doctors, and industry partners we have accomplished, and can continue to accomplish, great things. Together we have seen a treatment for Pompe become a reality for most patients around the world, and working together we see new and better treatments on the horizon in the near future.
This year, as a global community we turn our attention and advocacy power to the importance of early diagnosis in Pompe disease. Unfortunately, many patients still go through a lengthy diagnostic odyssey before they are finally diagnosed. This must be changed to give Pompe patients around the world the best chance possible at preventing irreversible damage to their muscles.
Why is Early Diagnosis Important?
Pompe disease is a progressive, neuromuscular disease. While patients may not show symptoms for many years (sometimes even decades), the disease is present and active at birth. Multiple trials have shown that treatment with enzyme replacement therapy (ERT) can significantly alter the natural history of Pompe disease in patients. In short, it saves lives.
However, studies have also shown that a critical component of a successful outcome with ERT is the initiation of treatment before irreversible damage has occurred. The importance of early diagnosis is even more critical in Infantile-Onset patients. In fact, in “Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes,” the authors reported “we found that starting ERT even a few days earlier was associated with better biochemical responses and developmental outcomes” (http://amda-pompe.org/downloads/publications/Very_Early_Treatment_for_Infantile-Onset_Pompe_Disease_Contributes_to_Better_Outcomes.pdf)
The key to early initiation of treatment is early diagnosis. Without a diagnosis it is impossible to start treatment before irreversible damage has occurred. However, achieving an early diagnosis is complicated by the fact that symptoms of Pompe can occur at any age, and are often difficult to detect at first.
What are the Early Symptoms of Pompe disease?
The first (or early) symptoms of Pompe will often vary from person to person. It is important to remember that not all symptoms may be present, and that the severity and order of the symptoms may vary. Knowing and recognizing the early symptoms of Pompe disease is critical to achieving an early diagnosis.
In Infantile-Onset Pompe, the most common symptoms are related to poor muscle tone and heart involvement. Infants generally have poor muscle tone (i.e. are a “floppy baby”), fail to meet or maintain development milestones, have difficulty feeding (sucking, swallowing, or feeding in general), and have frequent chest infections. An enlarged heart is also seen in Infantile-Onset patients. These symptoms are typically seen in the first weeks, or months of life.
Late-Onset Pompe disease symptoms can present at any time from the age of 1 to 70 years old. In addition, the order the symptoms present can vary widely from patient to patient. If symptoms begin in childhood/young adulthood, the symptoms tend to worsen more quickly than if they present later in life. However, the most common early symptoms are similar regardless of when they present. These symptoms are: morning headaches/nausea; heavy breathing after mild/moderate exercise; difficulty breathing while lay flat; frequent chest infections that are difficult to overcome; failure to meet or maintain developmental milestones; poor performance in physical activities, difficulty gaining or maintaining a healthy weight; and difficulty with stairs, or getting off the floor.
A more detailed list and description of the early symptoms of Pompe disease can be found on the IPA website at http://worldpompe.org/index.php/pompe-disease/diagnosis#symptoms.
Once Pompe disease is suspected, there are a variety of quick and easy methods to diagnose (or rule out) Pompe disease. We have to get to the point where Pompe disease is suspected sooner, before irreversible muscular damage occurs.
How You Can Help
Pompe disease is so rare, most people have never heard of it. How can you recognize and diagnose a disease if you don’t know it exists? But we can all help to change that! Let’s show the world that “Together We Are Strong” and spread the word about the importance of Early Diagnosis for Pompe disease and how to recognize Pompe symptoms!
Flyers about the importance of early diagnosis have been created and translated into multiple languages for the patient community to use. Print some Flyers out and share and we will get the word out that Early Diagnosis is Key! The Flyers, and more information about Early Diagnosis of Pompe disease can be found at http://worldpompe.org/index.php/pompe-disease/diagnosis#flyers.
About Pompe Disease
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, is an inherited lysosomal storage disorder with an estimated frequency of 1 in 40,000 births. The disease is characterized by a total or partial deficiency of the enzyme acid α-glucosidase. Deficiency of acid α-glucosidase leads to accumulation of lysosomal glycogen in virtually all cells of the body, but the effects are most notable in muscle. Pompe disease is a spectrum disease with classic infantile onset at the severe end of the spectrum and the late onset at the other end of the spectrum. Disease symptoms may include: heart involvement; breathing problems; difficulty walking; inability to walk or stand; inability to raise the arms; muscle pain; fatigue; and scoliosis. Pompe disease causes severe disability and can be fatal when not treated in time.
About the IPA
The International Pompe Association (IPA) is an international federation of Pompe disease patient's groups that seeks to coordinate activities and share experience and knowledge between different groups and individual patient advocates from around the world. The IPA was founded in the Netherlands in 1999 and is the first, and only, international Pompe organization and serves as a model for other disease groups. There are currently sixty (60) countries that are affiliated with (or contacts for) the IPA. For more information on the International Pompe Association, please go to www.worldpompe.org
Also celebrating 10 years of treatment and International Pompe Day 2016...
Disclaimer: The IPA does not endorse any of the products, medications, treatments or information reported herein. Articles on the IPA web pages are intended for informational purposes, only. We strongly advise that you discuss all medications, treatments, and/or products with your physician.
The IPA would like to thank everyone who participated in the Third Annual International Pompe Day Art Contest! The participation level this year was the highest yet!
All of the judges expressed how much they enjoyed seeing everyone’s unique interpretation of “Together We Are Strong.”
The IPA is very excited to announce the winners in each category:
Chloe Mah (First place)
Finger painting by Chloe using many colors with each representing different stakeholders coming together to support people with Pompe disease.
Abdullah Hashim Amerat (Second place)
When we are together we can take off and do super things!
Jesse Walker (Third place)
My piece shows together we are strong because of the way the letters are drawn together to support each other to show Together We Are Strong. Even when one of us falls out of place, we still pick them up and help them fit in and stay strong.
For Immediate Release:
April 14, 2015
April 15th will mark the Second Annual International Pompe Day. The international Pompe community is comprised of Pompe patients, family members, friends, and partners from the scientific, medical, and industry communities. As a united force we have repeatedly shown over the years that “Together We Are Strong,” which is also our slogan for International Pompe Day.
In recognition of the Second Annual International Pompe Day, the International Pompe Association (IPA) would like everyone to take a moment and think about where we have been, where we are, and where we are going. Everything that has been accomplished has been because of our strength as a community, and it is our strength as a community that will see us to the next breakthrough in treatment and disease management.
The IPA and our affiliates have organized a variety of awareness activities to commemorate the Second Annual International Pompe Day. These include workshops, fundraisers, awareness campaigns, and an online Photo Gallery on the IPA website!
In addition to these activities, the IPA is excited to announce that April 15th (International Pompe Day) will serve as the “Launch Date” for the International Pompe Day Fundraiser: The Pause for Pompe.
The goal of the International Pompe Day fundraiser is to raise $50,000 (USD) to develop and produce a short film to raise awareness of Pompe disease. In particular, the need for access to therapy and the importance of early diagnosis will be emphasized. Studies have shown that early diagnosis and access to treatment results in the best long-term results for Pompe patients, and we believe that our short film will help future Pompe patients be diagnosed sooner by raising awareness of Pompe disease.
The “Pause for Pompe” challenges people to “Pause” (stay completely still) for 40 seconds. This 40-second Pause challenges participants to see what the most severely affected Pompe patients experience–the inability to move. It also represents the 1 in 40,000 people in the world that are affected by Pompe disease. So Pause for Pompe and donate to the IPA’s International Pompe Day Fundraiser so that future Pompe patients will no longer be forced to Pause!
For more information on the Pause for Pompe and to learn how you can participate, please visit the IPA website: www.worldpompe.org.
"Translational aspects are key elements of the rare disease field, and Pompe disease plays a major role model for the entire rare disease community. Linking international resources, researchers, clinicians, public money and industry together will provide superior treatment to all of our patients with harmonized standards of care around the world. I strongly support any networking that includes the national and international Pompe patient organizations. As we made great steps forward during the past decade, let´s celebrate the first annual International Pompe Day on April 15, 2014!"
Professor Benedikt Schoser
Friedrich-Baur Institute, Department of Neurology, Munich, Germany
"For the past twenty five years, I have studied the biochemistry, molecular genetics, and cell biology of Pompe disease. My work days are similar to those of most scientists - long hours, intellectual and experimental challenges that are both addictive and frustrating, tedious manuscript preparation, and worries concerning research funding. So what, you might ask, keeps me coming back to my laboratory each day? Hackneyed as it may sound, I have to disclose that it is the infusion of incentive to find better treatments for Pompe disease that I experience following my attendance at meetings that include patient presentations. No scientific talk or high of discovery so deeply inspires and motivates."
Dr. Nina Raben
Staff Scientist, Laboratory of Muscle Stem Cells and Gene Regulation, NIAMS, National Institutes of Health, Bethesda, MD, 20892, USA
"Duke has a long and dedicated history to Pompe research. To make great strides in the field and improve the lives of our patients, we need to build awareness and create partnerships among the researchers, patient organizations and industry. We are very excited to support and be a part of the first annual international Pompe day as we celebrate Together We Are Strong!"
Priya S. Kishnani, MD, MB BS
Duke University Medical Center, Durham, NC 27710, USA
"Together we are strong! - A better slogan for the first International Pompe Day could not have been chosen. Activities around Pompe disease either driven by patients, clinicians, scientists or industrial parties have always been focused on a common goal: understanding and combatting the disease in order to improve the life of patients. Patients are pressing doctors to diagnose and cure their disease, doctors put the pressure on scientists to come with brilliant solutions, and finally the pressure is laid on industrial parties to proof they can realize the 'unmet needs'. The magic with Pompe disease is that each party stands for its own case, collaborates but also quarrels with other parties, but at the end all parties adhere to the same common goal and achieve that goal. Together we are strong!- a very true message, worthwhile to be spread at this first International Pompe Day.
Arnold JJ Reuser
Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
The IPA is excited to announce that the international Pompe community has chosen April 15, 2014 as the first annual International Pompe Day!
The goal of International Pompe Day is to foster international awareness of Pompe Disease and the slogan for our day is "Together We Are Strong". The IPA encourages everyone to become involved in our inaugural International Pompe Day to show how STRONG our Community is – both in numbers and in passion!
There are several ways that you can participate!