Newborn Screening for Pompe Has Changed the Playing Field
A columnist imagines a better world for future generations
I made it through another year living with late-onset Pompe disease. That puts me at four years on this journey. As 2023 kicks off, I’m starting year five. I’ll be another year older and hopefully wiser come St. Patrick’s Day.
We finished the holidays with a big surprise. Our son Bryan, and his wife, Olivia, had a special present enter this world on Christmas Day: our second grandbaby, Alayna. Her due date wasn’t until Jan. 3, so it came as a surprise. With two granddaughters now, Grandpa is feeling even older.
Our kids live in Spokane, Washington, where there is newborn screening for Pompe disease. Washington is among about 30 states that currently screen for Pompe disease, but more states are joining the effort. Newborn screening has really changed the playing field for the disease.
Pompe has such a wide range of symptoms and a large spectrum of generations being diagnosed, so receiving a diagnosis as a newborn is critical to managing treatment as soon as symptoms begin to manifest, if not sooner. It is key for newborns in order for them to survive their first six months of life, and to allow kids to save as much muscle as possible as they grow into adulthood.
Our granddaughter was fortunate not to have any gene mutations for the disease. However, after I received my diagnosis in 2018, I had my two biological boys tested. They were born in Washington in 1998 and 2005, but at the time, the state didn’t have newborn screening for Pompe yet. Genetic testing became available in 2019, however, and doctors discovered that my two boys are carriers for Pompe disease, with one gene mutation each.
If Washington had newborn screening when my first son was born, perhaps I could have been diagnosed sooner. Maybe I would have been able to start treatment sooner. Knowing earlier could have better prepared me for the future in terms of how I manage my rare disease.
Newborn screening for Pompe disease needs to be made available in all 50 states, not just for babies, but also for the parents as well. How many parents could be diagnosed with Pompe after finding out their child has it upon birth?
The playing field has never been better for the Pompe community. But it takes everyone to help get the word out. It will make a difference in this world to so many more people “On the Road to Pompe.”
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