Perspectives of The Pompe World

It’s hard to find the hope when you are so engulfed with the news of a Pompe Disease diagnosis. I remember too well what those early days felt like and how I obsessively sought morsels of hope anywhere I could. My little girl was diagnosed in February of 2020 with Pompe, and in these 5 years, hope is exactly what I found. 

In February of 2020, only 20/50 states were screening newborns for Pompe Disease. Today, in 2025, 49/50 states will screen newborns in the US. Early intervention is drastically improving outcomes for children born with disease and this is all thanks to an increase in screening and early intervention. Because of this, Pompe Disease is no longer a death sentence.  

In February of 2020, Pompe Disease was estimated to affect 1:40,000 births. Due to the increase in newborn screening, it is now estimated that it affects closer to 1:18,000 births. Identifying the increased frequency is putting Pompe Disease on the rise in conversation, medical research, and advancements.

In February of 2020, Pompe Disease only had one treatment option. Considering only 5% of rare disease have any treatment options, this was still huge for hope. As of today, there are 3 treatment options and ongoing research, including gene therapy trials. The treatments are showing improved outcomes as they are quickly ironing out the kinks and enhancing the efficacy. 

In February of 2020, I had discovered only a handful of families online who were also affected by Pompe Disease. Today, I have encountered dozens upon dozens and have made lifelong friends within the community. My daughter has played alongside other children who she understands have Pompe like her. My husband has connected with other fathers who share similar experiences. And I have forged friendships with other mothers who know that part of my heart like looking into a mirror.

I went from feeling like I was on an island alone, to feeling supported, understood, and seen. I cannot say enough good about the community and relationships I’ve found.

5 years really isn’t much time at all and in these short few years, I’ve seen the Pompe Disease world grow and transform at impressive speeds. Science and determined families have propelled changes that are saving lives. In February of 2020, I could have never imagined how much would change by now, and how much hope I would find along the way. So many people are devoting their time and efforts to ensure that our future generations of Pompe affected families have better experiences and outcomes than those who came before them. 

As I read back on previous things I’ve shared, I’m elated to see how different it is now. I wish I could go back to my February 2020 self and tell her all the great things the next years are bringing. I wish I could show her how fast it will all change and how much hope there is to be found. I wish I could tell her to enjoy her baby and not be consumed with the fear of what’s to come, because what’s to come is so much better than I ever dreamed. 

There are still hard days and there are hard things to digest. It’s not perfect and there are hiccups and setbacks, but the forward momentum feels like sunlight on a tender heart. On the hard days, I think back to February of 2020, and I’m assured that there are better days ahead, and hope to be found.