Category: Uncategorized
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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,…
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Between Gratefulness and Grief
Two things can be true at the same time, even if they are conflicting. I’ve known this to be a reality at times, but getting this diagnosis for my child has been a constant balancing act between several equally-weighted truths. I am grateful for getting answers and getting them in a timely format. And I…
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Facing the Financial Side of Pompe Disease
A rare disease diagnosis changes so much about life. Many families will describe feeling as if their life was flipped upside down and changed forever. Aside from the fear of the health outcomes of the diagnosis itself, the other major stressor is the financial aspect of this diagnosis. It is inconceivably expensive to have a…
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A Journey to Home Infusions for Pompe Disease
One of the bright spots in a Pompe Disease diagnosis is that there is treatment. This is a weekly/biweekly infusion lasting an average of 6 hours, that replaces some of the enzyme that patients do not make enough of. This slows the disease progression down, but is not a cure. For some families, being at…
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To The Parents of a Newly Diagnosed Child
Firstly, I’m sorry for the news you’ve been given. I know that it feels like your world has come down into pieces by receiving your child’s diagnosis. Maybe you were completely caught off guard, or maybe you’ve known something wasn’t right—either way, I know this feels devastating all the same. So from the parents who…
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Since I Thought I’d Lose You
Since I thought I’d lose you, I am not the same. In both good ways, and in more complicated ways, I am changed as a parent. I am more afraid now. The fear that shook our lives has crept into every corner of my mind and takes the stage from time to time. Like I…
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To Those Who’ve Come Before Us
There are many special gifts exchanged between adults and children diagnosed with Pompe Disease. These two perspectives really highlight the spectrum of this disease and the importance of newborn screening. As a mother of a child diagnosed, the diagnosed adults meant so much to me. For my family, they offered a real life view of…
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Can’t Say For Certain
Every child with Pompe looks different. This has to be one of the most frustrating concepts about Pompe. Our doctors cannot and will not tell us exactly what we can expect in regard to disease presentation, age of onset, progression speed, or their response to treatment. So they make educated guesses. Based on the amount…
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Ready Or Not, Here it Comes
As a parents of a child with Pompe Disease, I am always watching my back. Pompe isn’t at the back of my mind—it’s the front too. This is most obvious when I notice something off about my child. Every minor thing I notice, I catch myself asking “is this Pompe?” That milestone that’s a little…
Perspectives of The Pompe World 