Perspectives of The Pompe World

Newborn screening gave my family a “heads up.” 

Even on the bad days when I feel like this is all so heavy, I am still always grateful for that heads up. Grateful in the deepest and most desperate way. 

Every child deserves that heads up, but not all get it. 

The more severe end of this disease spectrum is known as infantile onset pompe disease. The disease progression is much more rapid and symptoms can be very severe. They need this heads up in a life or death kind of way. While I think that receiving any diagnosis like this is generally traumatic, regardless, it doesn’t compare to the degree of trauma experienced by the families who were left in the dark and desperately scrambling for answers. 

Last week I spoke with 9 mothers. These women took time to share their diagnostic stories with me and I have to be honest: it both humbled me, and gutted me. My heart was tender for several days after hearing these stories about very sick children and mothers who had to fight as they watched their baby deteriorate. The end of the spectrum of Pompe that I feared the most was their reality, and they didn’t even know it because their newborns were not screened. 

These mothers were dismissed by their pediatricians when they expressed concerns that something was not right. Time was wasted as they were assured that baby was fine and then sent back home. Some of them had to call 911 while their infant turned blue. Some had to get second and third opinions before finding a provider who would listen and look into their concerns. Some of them traveled far to find help. Some of them spent weeks with a hospitalized baby. Ventilators, tracheostomies, scary heart abnormalities, collapsed lungs, lifeless bodies and all the things that are a parents worst nightmare. Their children had become VERY sick by the time they were finally able to be correctly diagnosed with Pompe Disease, and by then some of the damage was done. And the very worst part was that it could have all been prevented. There is treatment available to slow disease progression and improve quality of life and it was not started as early as it should have been because their children were not screened.

When these mothers learned that there were states that screened newborns for Pompe Disease and that theirs did not, they described feeling livid. Enraged. Devastated. And later, bitter. 

I would be too. If we are being honest, I would have shown the ugliest side of me that exists, knowing how my state had failed my innocent and undeserving child. 

All in the name of saving the money it costs to test. 

There is a bit of a subtle disconnect between mothers like them and mothers like me. It isn’t malice or ill-willed, but the stories are different and there is a clear preference of which story you get to tell. One mother described feeling jealous of children who were diagnosed early and live without the limitations her child experiences. I think any of us would feel that way even if we weren’t willing to admit it. I look longingly at children who are “normal” and feel the same way. When I remind myself that our story could have been worse, its their stories that come to mind. The grass really can be greener when it comes to what we hope for our children. While we love them and can find pieces of the journey we are grateful for, we would still like for our child to have a better chance. Or at the very least, an equal chance. A heads up.

Those children are resilient, amazing and inspiring children. They defy the odds and make the world a better place with their courage and strength but at the end of the day, they still deserved the heads up. Their outcomes could have been much improved if they had, and any parent would be grateful for better outcomes.

Their stories are unfair, unfortunate and unjust. This part of their reality is devastating and tender, but their stories are not over. There will be countless children who will take their first breath and only days later get the life-saving “heads up” they deserve. All because of the fight their parents have fought for whatever good could possibly come out of a bad situation. 

There should be no more stories like this. These families deserve better. Newborn Screening should be performed on every child and these families won’t stop until that is a reality. I couldn’t be more grateful to work alongside them to bring awareness and see changes made to the system that failed them.