Perspectives of The Pompe World

It is a vulnerable thing to know that as a medically complex person, or parent of one, our healthcare providers are our lifeline. We lay our hearts in their hands and humbly ask them to help us. Many aspects of life depends on their knowledge and judgement, so finding one who we trust is irrefutably…

The rare disease community is vastly diverse. So many of our members have gifts that work to improve this journey in various ways. Some use their story and voice to provoke change with legislators, and some educate and spread awareness about the disease. Some advocate for accessibility and resources, and some of us network to…

Recently, in the US, the presidential administration ordered to cut funding drastically for medical research. This sent a wave of panic throughout the science and medical community who have dedicated their lives to advancing and improving the lives affected by disease. While there’s no argument that everyone receiving federal funding for anything should be frugal,…

It’s hard to find the hope when you are so engulfed with the news of a Pompe Disease diagnosis. I remember too well what those early days felt like and how I obsessively sought morsels of hope anywhere I could. My little girl was diagnosed in February of 2020 with Pompe, and in these 5…

In past I’ve spoken about the “late onset limbo” and how hard that can be. We have the diagnosis, we know that the progression is happening, and we know ERT is in the future, though we don’t know when.  We watch and wait our turn.  One of the harder things I’ve had to come to…