Perspectives of The Pompe World

Got the diagnosis: check. Found the tribe: check

So now what?

Now we wait.

It’s funny because I’ve been a nurse since 2011 and I can’t tell you how many times I’ve mindlessly written “will continue to monitor” in a medical chart and now that phrase dictates my life in regards to the Pompe Disease diagnosis. I hate that phrase.

But, that’s the plan. Her heart was slightly enlarged but trended back to normal in her first year. The labs that were elevated came down some or stayed the same. Her sleep apnea has stayed mild and much of her muscular weakness is showing improvement with physical therapy. Mostly everything that was “off” was stable. So we wait until it’s worse, and then we start a biweekly infusion treatment that slows down the progression of her decline. Who knows when that will be. But there is no cure, only slowed progression and starting it too early can decrease it’s effectiveness later.

So we wait.

We try to keep her strength up with PT. We get lots of help from OT. We see genetics, cardiology, a pulmonologist, a GI specialist, an audiologist, an orthotist, and then of course our regular pediatrician as well and we all just watch and wait.

It’s the black cloud for many families like mine. The anticipation can just about rob you some days. When is it her turn? How much longer do we have before we cross that overwhelming bridge that is enzyme replacement therapy? We fear it even though it is life saving and such a blessing to even have as an option. We fear it because it’s another moment in our future that sobers us to our reality: its getting much worse, we should start slowing progression now. It’s feels as though that moment is accompanied by a proverbial stop watch. I guess it’s more the stop watch we fear than the treatment itself. For Infantile Onset, there is one starting line because diagnosis and treatment typically start together. For Late Onset, there are two: diagnosis now, then treatment later. And we find ourselves in this anxiety-inducing liminal space.

Sometimes I feel grateful for the time in between our starting lines and other times I think I wish I could just get it over with.

That’s where we are. At two she runs and jumps and plays. She is so smart and fierce and has no clue she has Pompe Disease. You wouldn’t have a clue either if you saw her and are not trained to catch her subtleties. We keep busier with medical stuff but other than that, she lives her best two year old life.

We just wait, and watch, and hope we are ready when it’s our turn to explore the next big step. Will continue to monitor.