Perspectives of The Pompe World

Firstly, I’m sorry for the news you’ve been given. I know that it feels like your world has come down into pieces by receiving your child’s diagnosis. Maybe you were completely caught off guard, or maybe you’ve known something wasn’t right—either way, I know this feels devastating all the same. So from the parents who have found themselves in your shoes, this is what we want you to know.

Google is not your friend.

Because Pompe Disease is rare, much of the information that search engines will offer you is outdated. It told us our children would not live to see 1 or 2. It fails to mention the incredible improvements in life expectancy, the treatments, and the vast differences in presentation over the spectrum. Google won’t paint you a clear picture of what life with this could look like, which leads me to me next point:

Find the others.

Many of us in this community are very vocal and work hard for awareness. We share our stories, updates in science, raise funding, or present educational information. And there is no one better to learn about what this looks like than the people who live it. It won’t look the same for us all, but each perspective is important. We are just a message, email, or text away. Most of us are more than willing to talk with you and answer your questions. We can link you to others who are geographically close to you or whose stories are much like your own. There are many Facebook pages, support groups, and newsletters that will connect you with others. Find your tribe and you will find the support you need while you make sense of the way life may look now. We are here for you and ready to pay it forward the way others did for us during our darkest days.

This is not your fault.

You did not know what your genetics would bring to your child. Just like you didn’t know what their eye color would be or if they’d have your nose—you couldn’t have predicted this. This is not something that is typically screened for when doing regular genetic testing. The guilt you feel is a dead end and you are not to blame for something you could not control or anticipate. Your child will not blame you any more than you blame whatever family member might have passed the carrier status to you. Don’t let that guilt eat at you.

You’ve been given answers, not a sentence.

I know it feels like a sentence but it’s not. Many people go years undiagnosed and untreated because they are searching for a correct diagnosis. During this time the disease is progressing untreated. The quicker you have answers, the quicker you can receive what you need so that the outcomes are drastically improved. People have devoted their lives to ensuring every person gets those answers early because it is crucial to the quality of life for people with this disease. Only a small percentage of us get that opportunity. Early diagnosis is a gift—in its own twisted way.

There are better days ahead.

The beginning feels like the worst day of your life, but please know that everything you fear is the worst case scenario and rarely the actuality. Thanks to ERT and ongoing research, the future of this disease is so hopeful. Science has made amazing strides in only a few short years and the trajectory is promising. Don’t let your fear of the future ruin your experiences with your child because the future is full of hope. One day you’ll look back to this moment in time and be so grateful that life doesn’t look much like you were afraid it would. Many of us really regret the way this diagnosis robbed us of joy in the beginning. This is not a death sentence—this does not automatically mean your child is going to be severely affected. You’re going to find the hope that you so desperately need and you are not alone. Despite all the bumps in the road this diagnosis can deliver, it’s going to be okay.

My favorite resource is the Day 1 Guide created by people in the pompe community. It is up to date, simplified information to help you through the diagnostic process and can be found at:

http://www.pompeinformation.org

I’d also like to mention several Facebook groups that are helpful in getting glimpses of people who live with Pompe Disease:

Hope Travels, Cure Pompe, Pompe Strong, On a Mission for Margot, Marshall’s Mountain, Grant’s Giants, The Eve of Better Days, Winnie the Warrior, Cayden’s Journey with Infant Pompe Disease, Sully’s Strength, Macie’s Mission, Our Adventures with Jake and Jordan-Pompe Warriors, and Willo’s Pompe Journey.