What is International Pompe day? What does it mean? It’s pretty simple. The International Pompe Association (IPA), with the support of the global Pompe community, launched International Pompe Day in 2014. Like many official days the goal is to raise awareness, in this case, of what is often a devastating disease.
This year, the global Pompe community is stressing the importance of early diagnosis. Pompe is a progressive disease. Not only is it progressive, but that damage has been shown to be substantially irreversible. Studies have shown that for the best clinical outcome it is important to start treatment before that irreversible damage has occurred.
Pompe disease is one of about 7,000 rare diseases. It affects 1 in 40,000 births. With rare disease, it’s common for it to take time to be diagnosed and Pompe is no exception. In my case, it took about four years. Many people live through an odyssey that takes much longer. Unfortunately, some patients are misdiagnosed and receive the wrong treatment, or no treatment at all. There are far too many rare diseases for doctors’ to recognize them all. As we move further into the world of genomics this will improve.
The very best opportunity to test for Pompe disease is through newborn screening. Pompe was added to the Recommended Universal Screening Panel in the US in March, 2015. It has been screened for in Taiwan for over ten years. CAP members voted to support newborn screening for Pompe in 2014 and in September of 2015 CAP submitted a nomination for Pompe disease to be considered for addition in Ontario’s newborn screening panel. That application is currently being reviewed.
It’s hard to emphasize how much it means to rare disease patients and families to connect with others. Being able to connect with others that ‘just get it’ is invaluable. I received this from a patient’s brother the other day and would like to take this opportunity to share it here.