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 families all over the world.
Pompe Day is wrapping up soon for another year. It’s important to point out that for Pompe families, Pompe Day is 365 days long. We don’t get a day off, and it kinda sucks. For many of us, it took years, yes years, to get diagnosed. After being diagnosed, our health is overseen by a team of healthcare providers. Constant medical appointments, biweekly infusions that can take most of the day, and managing what can be quite severe symptoms are a huge burden on families. We can’t underestimate what that means and how patients’ and families’ lives are changed.
But, we are also fortunate. There are 7,000 rare diseases. Most of them have no treatment available, but Pompe has had for many years now. We’re still learning, so that treatment works better for some than others, but it has absolutely saved lives. A new version of that drug is being reviewed now, and is already available for US patients. There will be other treatment options soon, even one-time treatments via gene therapy. There are a number of clinical trials running so we have reason to be optimistic.
We are also part of an incredible global community. If you are newly diagnosed or have questions, contact us. You can also find us on social media @pompecanada.
There are many Pompe groups on Facebook. Here are a few:
You can also find many of us on Instagram or Twitter. Reach out, you’re not in this big ball o’ fun alone!