Category: Uncategorized
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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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10 Things We Want You to Know—From Parents of Children with Pompe Disease
1. It’s okay to ask questions We want you to. We want you to try to understand and we want to raise awareness. It’s not rude to seek correct information or ask about our child’s situation. Feel free to ask questions. 2. It’s not going anywhere There is no cure. They don’t outgrow it. It’s…
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Story Spotlight: The Deidesheimer Family
The Deidesheimer family brought home baby number 2 in 2019. Evelyn “Evie” was only 7 days old when her mother received the heart-wrenching call. 5 missed calls and frantic voicemails from the pediatrician’s office was only the beginning of learning their bad news: Evie was diagnosed with Pompe Disease. There was panic in their pediatrician’s…
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Your Way is OK
There is no right or wrong way to cope with receiving this diagnosis. You can be in every stage of grief in a single day or live in one stage for weeks. Maybe you skip some stages entirely. Maybe you never make it past a single one. There is no itinerary to grief. There is…
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The “Gift” That Keeps on Giving; A Trojan Horse
Autosomal Recessive. In short, it means every child we create has a 25% chance of being affected by the disease they inherit from us. Every child. So while wrapping our heads around the diagnosis of our second child, it hit us—wait…our first child could have this too?! Yeap. Talk about a kick while you’re down.…
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Grief
Sometimes, my grief takes up only a moment of a day. Other times it’s a thief of the entire day. Sometimes I can sit with it calmly, and sometimes I wrestle it with everything I can muster. Many times it just sits lazily at my shoulders, or quietly down my cheek. It can be taunting…
Perspectives of The Pompe World 