Category: Uncategorized
-
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.…
-
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…
-
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…
-
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…
-
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 