Welcome to the International Pompe Association (IPA)
My sister, Helen Walker was diagnosed in 1990 with Pompe’s Disease. Little was known about this rare disease in Australia at that time. One morning Helen serendipitously happened to watch a TV interview with Professor John Hopwood on the research his group in Adelaide was doing on Glycogen Storage Diseases. She rang him the next day and had a long conversation. His interest in her situation resulted in a firm professional friendship between them. He informed her of his connections with the scientific work developing therapies at Erasmus University and at Sophia Children’s Hospital in Rotterdam.
John also arranged contact with three other known Pompe patients in Australia: Together they formed the Australian Pompes Association with Helen as President.
Through the Australian Diagnostic Service for Pompes Disease in Adelaide, Helen was able to inform managing physicians of the existence of the Association as new diagnoses were confirmed. Doctors were requested to inform their patients of the existence of the APA. And so the organisation grew in membership.
Helen’s gratitude and respect for John Hopwood and the research team in Adelaide was never forgotten. She owed so much for the success of her endeavours to this dedicated group and as a consequence she left a substantial amount from her estate to the South Australian Health and Medical Research Institute for future research.
I first met Professor Hopwood at Helen’s funeral in November 2012. John flew to Melbourne to speak at her funeral. Earlier this year he rang me to announce his imminent retirement and his wish to launch a memorial benevolent fund in honour of Helen at The Institute. He invited me to attend the launch and to speak. On May 10 this year I attended SAHMRI’s launch of the beneficiary fund called ‘The Walker Society’.
The establishment of the South Australian Health and Medical Research Institute (SAHMRI) began in 2007 when the South Australian Government commissioned the Review of Health and Medical Research in South Australia which recommended the establishment of a dedicated research institute for South Australia.
In response to this recommendation, the South Australian Government committed to establish SAHMRI in 2008, and the Federal Government allocated $200 million to build the research facility. In December 2009, SAHMRI was incorporated as the state’s first independent health and medical research institute.
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.
Download this Press Release (PDF, 475 kB)
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