In 2017, my husband and I had our first child. A sweet little boy we named Lincoln who was healthy, happy and perfect in our biased minds. He wasn’t quite two years old when we decided to try for a sibling. We proceeded without any idea that there was a 1 in 4 chance that his sibling would be born with something called Pompe Disease.
Margot was born in January of 2020 and was seemingly healthy, happy and perfect in our biased minds as well. Only 8 days after she was born, we learned differently. Kentucky is one of several states that screens newborns for a rare genetic disease called Pompe Disease (Glycogen Storage Disease Type II.) Our pediatrician called to tell us that her blood work from the hospital showed she may have it, and told us to report to our local children’s hospital to meet with a geneticist later that day.
I sat at our kitchen table as I hung up our phone and tried to tell my husband what they had just said. “She told me not to google it” I told him. I lasted about 40 minutes before I just had to look it up and my world crashed down in my kitchen as I read what I found. I still have the screenshots that stated untreated children do not crawl, walk, or survive to be 1 or 2 years of age.
I looked at her and thought “there has to be a mistake-shes perfect. They got it wrong.” She lied there sleeping in her blush pink sleeper with white polka dots, breathing easy and so peaceful; Surely, they messed up her blood work? The rest of the day felt like it lasted a week. We met with the geneticist who assured me there was no mistake and sent us to other departments for further testing and more labs. She got an echocardiogram, EKG, and several labs to determine what “degree” of Pompe Disease she had. Her father and I also sent our blood for testing as well to confirm her genetic mutations she inherited. What we did not know at this time was that Pompe Disease presents like a spectrum and that there are mild cases, severe cases and somewhere in between. We were sent home and told to cross our fingers for the milder end of the spectrum which would be “Late Onset Pompe Disease” and would indicate that she would present symptoms severe enough to require treatment a little later in life (childhood-adult.)
Over the next few weeks the phone rang often with updates based on incoming information and the bigger picture was confirmed to be a milder, Late Onset diagnosis. After believing that she would die before the age of two (thanks, google/s) we were elated to hear that her death would not be imminent. We had much to learn and lots of adjusting to do but at least we had some time.
This was our beginning of our journey with Margot’s diagnosis. Riddled with worry, confusion and heartache as we desperately tried to stay afloat in the sea of unknowns. It was truly the most traumatic thing I have experienced in my short 32 years of life. I will tell more about our story at a later time but this is the foundation, and the life event that eventually propelled me to jump headfirst into making a difference in the world of Pompe Disease.
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