Perspectives of The Pompe World

This weekend, my family traveled to North Carolina to attend the annual Pediatric Pompe Conference put on by Duke University Pompe Team.

There was so much great information, inspiring stories, and educational points that alleviated a lot of confusion. However, as a way to generalize I want to simply share this:

There are big things in the works.

The research process is tedious and has many steps, so this takes time. But there are so many things in the works to improve the treatment for people with Pompe Disease. Even with hiccups along the way, the direction that treatment is taking is going to change this disease for the better.

We know SO much more now.

In comparison to just the last couple of decades, we have made leaps and bounds in learning. Screening, better technology, and the availability of treatment has given so much valuable information to the people working so hard for this disease. This is no longer a guaranteed death sentence like it was before. This is no longer as confusing as it once was.

Children are living full, “normal” lives outside of some special considerations.

Due to the increased newborn screening, treatment and monitoring is no longer delayed. This is allowing many of these children to participate in life as much as any other child. Right now in the US, there are 32 states who screen all newborns for Pompe disease. That number will continue to grow because there are people who are fiercely advocating for newborn screening for all.

Pompe is not as rare as we once thought.

Newborn screening has also shown that this occurs in more people than the 1:40,000 that was previously accepted. They now believe it could be as common as 1:9,000. This means that Pompe Disease and newborn screening will get the attention it needs to make even bigger strides and help even more people arrive to an early diagnosis and improved outcomes.

There are amazingly talented and intelligent people on our side.

They have taken events of the past very personally. The people whose lives were claimed by Pompe Disease are ingrained in their minds and they are determined to change the outcome for people. They are deeply devoted, inspired, and hungry to change the world of those who are diagnosed by this. They are taking much time from their lives to improve the lives of families like ours.

We’ve come back home feeling full of hope, inspired, and supported. It’s such a comforting thing to know how much hard work is going into this disease and how much love and support is shared among us all.

There is SO much hope for the future and I hope we can all remind ourselves of that on the hard days.