Category: Uncategorized
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How Can I Contribute to Advancements with Pompe Disease?
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…
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Isolation Amidst the Attack on Progress and Hope
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,…
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Five Year Reflection and Groundbreaking Change for Pompe Disease
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…
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Seeking Balance in Necessity: Monitoring Frequency for Pompe Disease
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…
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Carrier Status: What Does It Mean?
“Carrier status” is something that comes up in this community often. That’s because of the nature of Pompe Disease being Autosomal Recessive. As you can see, that means that children born of those parents have a 25% chance of having the disease (inheriting 2 mutations) and a 50% chance of being a carrier (inheriting 1…
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A Full-hearted Thank You after The Pompe Family Meet Up 2024
I’ve seen some amazing things grow in less than ideal conditions. One of those things is the community that forms under unfortunate circumstance. I’ve expressed my gratitude toward having this community for nearly 5 years now and that gratitude only continues to grow each year. Something about Pompe Disease just feels less scary when you…
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An Open Letter to My Child(ren) Without Pompe Disease
I’d like to start by saying, I am so proud of you. Getting your sibling’s Pompe Disease diagnosis and living with all it entails was hard for all of us, and the way you navigate it makes me swell with pride. This experience entails a lot of hard feelings and you’ve shown so much resilience…
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A Simplified Explanation of Pompe Disease
Pompe Disease is far from a simple disease. It is complex, involves multiple body systems, and can present in varying ways. This makes it incredibly difficult to understand. People affected or parents of affected children devote much time and energy into understanding it better. A way to spread awareness for this is to tell and…
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The Ugly Side of Advocating
A disease which is not well understood by the majority has its disadvantages at each turn. It’s not realistic to expect that people who have never heard of this to understand all that it entails, and while I understand that, it’s still hard. This reality propels you into a position that requires grit, grind, and…
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Appreciation of the Pompe Community
Pompe Disease doesn’t discriminate. The variety of ages, locations, cultures, backgrounds, and disease severity is quite the range and only gets more diverse the more that it’s getting diagnosed. Among the sea of differences, one monumental thing is shared, and that is the diagnosis. Some have Pompe Disease, some have children and family with it,…
Perspectives of The Pompe World 