Kate Manger reflects on the unexpected moments, milestones, and lessons that have shaped her daughter’s journey with Pompe disease, from early treatment to growing curiosity and perseverance.
Transcript
There have been a lot of things about Caroline that have surprised me. You know, obviously, when we got the diagnosis, the future seemed bleak because she started showing symptoms within the first year of life and started her enzyme replacement therapy very early on.
We didn’t know if that meant that things would be escalated for her and that she would lose, you know, the ability to walk sooner rather than later. And so, I think in the back of our minds, when she was a baby, we just kind of held out hope that she would just be as average as she could be for as long as she could be.
And we just took every day as a blessing that she was still functioning as an average kid. When she was very, very little, she was slow to reach her milestones. She was almost 2 before she even started crawling, before she started walking.
We know that even then, the ability to walk was a blessing for her, because it doesn’t happen for a lot of Pompe patients. But it was happening because she was on the enzyme replacement therapy. So again, we just took it in stride.
When she got to maybe 4 or 5 years old, her interest in sports peaked. And she really wanted to do what her friends were doing and play soccer and join the swim team.
She was very clear that she wanted to be able to do the monkey bars before her older sister could, to be able to go from one end to the other without falling. Things that she would, she would create goals for herself and do them, and accomplish them.
And she knew that being physical was a challenge for her and would set those types of physical goals for herself and, and, and do them. Which really surprised me.
It surprised all of us, and we, we just encouraged it, and we tried to keep it going as much as we possibly could.
I will say, now that she’s 7, the biggest thing that surprises me is her learning and her, her willingness and eagerness to want to learn more about Pompe disease.
When we go to clinics or when we go to the doctor, and, and she has her tests, sometimes she’ll have a muscle ultrasound. She is just so curious about the results and what is happening. And what are these results going towards?
She’s currently part of a research study at Duke University. And so she wants to know what all of those tests are for, and what they’re going towards, and how those tests are helping other Pompe patients.
So she feels like her disease is good and doing some good for people, for other people with Pompe disease, which, as a 7-year-old, to have that outlook on something that you were born with, that you will have for the rest of your life, is miraculous, I think, and just, outstanding.