Newborn screening detected Pompe disease and changed our lives forever
At first I was overwhelmed and frightened, but now I am grateful
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I still remember the phone call as if it were frozen in time. It was mid-morning, and I was in bed feeding my newborn, Caroline. With the shades slightly drawn, just a sliver of light crept in, letting us both cozy up and drift off. Caroline was only a week old, and we were still living in that hazy bubble of sleepless nights, baby scents, and the quiet awe of welcoming a new life into our home.
As my eyes grew heavy, my phone suddenly lit up the room, startling us both. The caller ID looked like the doctor’s office. I answered, completely unaware that my life was about to shift in the most monumental way, altering our family’s trajectory forever.
The woman on the line introduced herself as calling from the state of Illinois. She explained that my daughter had been flagged for a lysosomal storage disorder — specifically, Pompe disease.
At the time, I didn’t realize she’d been “flagged” through newborn screening. Each state in the U.S. offers a public health program that screens newborns for a range of diseases and disorders, many with a single blood test — usually a heel prick — within the first 24 hours after birth. The sample goes to a lab for analysis. Not every state tests for the same conditions, and Pompe disease was only added to Illinois’ screening panel in 2015.
“What do you mean she’s been flagged?” I asked the woman. “And lyso what?”
She asked if I had been contacted by the pediatrician or a geneticist yet, and I said no. I honestly wasn’t even sure what a geneticist was. She assured me I would receive more follow-up calls and kindly told me not to panic. She added that it only meant they needed to do a few more tests for confirmation.
A few seconds later, a genetic counselor called, repeating the same information but stressing not to look up anything online for fear of misinformation.
Keeping my head on a swivel
I looked down at Caroline — so small, so still. Tears stung my eyes, and my heart pounded as confusion and fear swept over me. I called my husband, Dave, at work — panicked, sobbing, and desperately searching for answers. I typed “Pompe disease” (spelling it as “Pompeii”) into my phone and tried to recall everything I’d just been told.
The first thing I read online was: death within the first year of life. I tried to relay everything to Dave, but the more I read, the more I cried, and the more my mind went blank. He took the first train home and found me sobbing in the dimly lit room, still clutching Caroline.
It took a month of testing and waiting to receive the official diagnosis of Pompe disease. We felt helpless, asking as many questions as we could — sometimes the same ones over and over. It was overwhelming, exhausting, and daunting.
We still had our regular lives to live, though. We had work, activities, and the biggest thing of all: Caroline’s 2-year-old sister, who had no idea anything was happening.
The first year of Caroline’s life was a complete blur to me. I still have a challenging time recounting the timeline. As any Pompe parent knows, there are countless tests, appointments, and doctors — not to mention the search for support groups, explaining a disease I’m still trying to comprehend to my friends and family, and finding balance for myself. My head was on a swivel.
After evaluations, doctors decided to start Caroline on enzyme replacement therapy at 11 months old. She spent her first birthday in the infusion center.
Caroline is now 7. With each milestone, she may have been a bit delayed, but she always managed to make it. Over time, Pompe disease became part of our vocabulary, then part of our routine, and eventually, part of our family’s identity. It doesn’t define Caroline, but it does shape her journey. It has taught us patience, resilience, and how to celebrate victories others might overlook. Each of Caroline’s milestones carries extra weight and meaning.
Sometimes I think back to that semi-lit room, holding her tightly, all swaddled up. When I look at her now, I’m overwhelmed — not with fear, but with gratitude. I’m so thankful for the early detection from newborn screening, the dedicated team of doctors, the existence of enzyme replacement therapy, and the rare community we’ve found.
Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.
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