Perspectives of The Pompe World

In past I’ve spoken about the “late onset limbo” and how hard that can be. We have the diagnosis, we know that the progression is happening, and we know ERT is in the future, though we don’t know when. 

We watch and wait our turn. 

One of the harder things I’ve had to come to terms with is feeling settled with less monitoring. While it’s good news when a care team feels that the appointment frequency can be less, it’s also incredibly anxiety inducing. The fear of catching the decline late never leaves the back of your mind when you understand the way the disease works. 

I have found myself juggling the nuance of clinical exposure, and the sense of security with frequent monitoring. As with many things, it’s just not black and white. Too little monitoring could be medical neglect, but too much can be unnecessary stress for a child as well. It’s all a part of the late onset limbo that I just can’t find a way to get settled and assured with. 

When children are monitored with this disease, it includes blood work, specimen collection, imaging, and clinical assessments. While not all aspects are invasive, it’s still stressful for some children to be in a clinical environment. My child happens to be one who has struggled with the anxiety of the clinical environment and this has really caused me to reflect on medical necessity. Fortunately for us, her rate of progression is favorable. Many families within this community do not have this rate of progression as a luxury and so the monitoring necessity is more clear in regard to necessary frequency. 

In our position, we have gradually stepped back from the frequency of monitoring as we have learned over the years that this is progressing slowly for her. This shift has been very hard for us as parents because we fear we may be doing too little. But we also fear doing too much. And not one provider can give us a standard right answer for the best amount of monitoring. Some days, I feel content with our clinical participation and other days I fear we could be missing something important. We still do not know when she will require ERT and they still can’t give us a clear answer for that. Our desire to give her the most normal life we can while still managing the disease proactively puts us at odds at times. I often think that if time between appointments shows we have waited too long, the guilt could break me. But I also think I should know longer feel such hysterics when the trend of her progression is a steady trickle. 

I hope that shedding light on this internal struggle can give insight to parents like us. I hope that others can understand that we aren’t lazy if we aren’t monitoring as frequently as others. And we aren’t over-clinicalizing our children if we are monitoring more frequently. We just aren’t sure and we are afraid to make the wrong call. Not all providers are as knowledgeable or thorough as others and there is no standard because the care plan for Pompe patients is just as much of a spectrum as the disease itself. 

At the end of the day, we are trying to find the balance. We are all trying to come to terms with just how much space Pompe Disease needs to take up in our lives. That is going to look different from person to person, and family to family, and we are all just trying our best to navigate a care plan efficiently and effectively.