Category: Uncategorized
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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…
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Not Today, Pompe
Not today, Pompe. The majority of the time that phrase is used in the manner of triumph and strength. It’s with pride that I say it, knowing that Pompe isn’t getting us down. And some days, it’s dismiss. Not today, Pompe. Because today, I can’t. Because sometimes I feel exhausted and overwhelmed. Sometimes I feel…
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Village: Found
Thank you. Thank you to the people on who first breathed hope into me during my darkest days. You found me, or I found you, and I can’t help but feel like everything changed then. You knew. You knew how I felt, because you had felt that too. You knew what I feared, because those…
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An Open Letter to My Child With A Rare Disease
Firstly, I think you’re perfect. You are so loved, so cherished, and wanted. I don’t have to try harder to love you as you are. It is natural, unconditional, and you are NO less in my mind and heart. Anything I think I may want to change about you would be for your quality of…
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Pre-Appointment Jitters
You’d think after all these appointments we have had, and will always have, this wouldn’t be an issue. It has improved along the way as we have adjusted and learned, but they always find their way to me as I prepare for the appointment ahead. No amount of coaching myself settles me until I get…
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“Breaking” The News of Pompe Disease to Small Children
How am I going to tell them? It’s something I’ve wrestled with since the day my youngest was diagnosed. Her brother was only 2 years old then. How would I make a two year old understand what was happening inside his baby sister’s body? How could I explain it in a way that he understands…
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Fumbling Through the First Year Fog
That first year is the hardest. When you Google Pompe Disease and read something along the lines of how some kids don’t live to see their first birthday, it wrecks you. I remember thinking, “I’ve only got a year?” And I swear I don’t think I exhaled for the first time until we reached that…
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Why the Fuss?: Newborn Screening
What if in the midst of a parent’s worst nightmare you learn that something could have been done? The sick child you’ve brought into this world could have had treatment? Could have been helped? Could have lived? I’ve talked about it previously, but in honor of September being Newborn Screening Awareness Month, I really wanted…
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Pediatric Pompe Conference: A Reflection
This weekend, my family traveled to North Carolina to attend the annual Pediatric Pompe Conference put on by Duke University Pompe Team. There was so much great information, inspiring stories, and educational points that alleviated a lot of confusion. However, as a way to generalize I want to simply share this: There are big things…
Perspectives of The Pompe World 