January 2022
This is Margot.
She is almost two years old from Kentucky.
She loves to swing, paint, and keep up with her 4-year-old brother.
When she was born, there were no concerns. We went home and adjusted to our new life with baby number two. 8 days later, we received a call saying her newborn screen had flagged positive for Pompe Disease. This call was followed by so many appointments, so many tests/labs, and so many tears.
She was confirmed to have Late Onset Pompe Disease. While we were devastated, we learned that this whole scenario could have been much worse. She’s been closely monitored by an amazing teams of doctors ever since. There is still so much unknown about what her future will look like but we are optimistic. The fear that came from uncertainty about her quality of life was replaced with hope and celebrations of the smallest victories. She has no clue about her disease and lives determined to keep up. She runs, climbs, dances, wrestles and all the other things children her age enjoy.
Newborn screening saved us a lot of confusion and worry because we are able to watch closely with a plan in our back pocket. We do anxiously await for the day she may need to start ERT but try to take everything one day at a time, as we’ve been advised to do. We aren’t in the dark about what is occurring inside her body and that’s truly been a blessing.
She inspires us daily and is stronger than she knows. We hope she will keep that determination with her through all of her days.
