Category: Uncategorized
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Late Onset Limbo
I recall very vividly the moment they had confirmed that my daughter had Late Onset Pompe Disease. We had prayed incessantly for days that it was late instead of infantile onset. That diagnosis gave us time. (Or so we thought.) The spectrum aspect of this particular disease is a thief. In many cases, families received…
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Sorry, Not Sorry
I’m sorry. I’m sorry I am not always the mother who takes this in stride. I know that’s what people hope to see. I am aware that my weaker moments make others uncomfortable and bring the mood down. It’s heavy-I get that. But I don’t have the energy to avoid my reality in order to…
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The ugly side of invisible illness
“She looks so normal.” I hear. I know that. Thank you? I’m never quite sure how to respond. Do I take this as a compliment or defend her deviations? This phrase conflicts comfort and discouragement. We hope for our children to stand out in ways that do not cast a spotlight on illness or disability.…
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Early Diagnosis: A blessing and a thief
Newborn screening saved us a lot of time and heartbreak. Early detection is vital to a care plan and improves outcomes drastically. As much as I feel pulled to advocate for the newborn screening, there’s a catch.As much as I am “drop-to-my-knees-grateful” for knowing about what our future will hold with this disease, I’m also…
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Will Continue to Monitor
Got the diagnosis: check. Found the tribe: check So now what? Now we wait. It’s funny because I’ve been a nurse since 2011 and I can’t tell you how many times I’ve mindlessly written “will continue to monitor” in a medical chart and now that phrase dictates my life in regards to the Pompe Disease…
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Desperate Times: Find Your Tribe
The beginning stages of diagnosis of a rare disease is truly a desperate time. Desperate for answers. Desperate for understanding. Desperate for a miracle. Just desperate in so many senses of the word. So, what did I do? I traded sleep for the internet in my fresh postpartum state. I inhaled any information I had…
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Our Story
In 2017, my husband and I had our first child. A sweet little boy we named Lincoln who was healthy, happy and perfect in our biased minds. He wasn’t quite two years old when we decided to try for a sibling. We proceeded without any idea that there was a 1 in 4 chance that…
Perspectives of The Pompe World 