Finding Our Pompe Family, Thanks to the Odds

When you hear the word “family,” who do you think of?

Most people think of their immediate family and relatives, such as parents, siblings, grandparents, aunts, uncles, and cousins. However, this word means so much more to me. After a rare disease diagnosis, we often find others who are just like us. They become the family we never thought we’d have. 

My son, Cayden, was diagnosed with infantile-onset Pompe disease in 2018 via newborn screening. Pompe is a rare genetic disease caused by a mutation in the gene that provides instructions for the enzyme that breaks down glycogen, a complex sugar. Therefore, it has been labeled a glycogen-storage disease.

When we first found out, I had no clue how to react. For starters, I’d never even heard of the word Pompe, let alone the disease.

It felt as if we had received this diagnosis and nothing more. Doctors told me not to search the internet for answers, because most of the information is outdated and would only scare me. How could I listen to that? I wanted answers!

Shortly after looking up the disease, I could see why doctors told me not to. Thus began my search for others with Pompe. Getting the real, raw truth is so much more reassuring than reading the outdated information on the internet. 

When I found my first support group, it felt as if a huge weight had been lifted off my shoulders. After finding that one, it became clear that there were even more. I stayed quiet in the groups for some time, just sitting back and taking in all of this new information. I saw people post about their day-to-day lives and enzyme replacement infusions.

When a few weeks had gone by, I started to engage with others in the groups. Connecting with the families was amazing. They offered support, advice, and even gifts. I was in awe that other people were going through the same thing as my son and me. We now share our stories, victories, milestones, and so much more with one another.

I was so inspired by other people in Facebook groups that I created my own Facebook blog for my son, called Cayden’s Journey With Infant Pompe Disease.

Getting a rare disease diagnosis can be so scary that it’s easy to forget about the good that can come from it. I sometimes think about all of the people I would not know if it weren’t for Pompe disease. My life would be so much different without these special people in it. They got me through the first year, which was by far the hardest.

During that time, my son experienced many setbacks and complications that resulted in long hospital stays. Being trapped in a hospital hours away from my real family often made me uneasy. That’s when these Pompe moms really came in handy! They were there anytime I needed, via text or phone call — even if I just wanted to vent. 

I truly feel like the Pompe community is one big family. Near or far, they’re always there to support one another. It helps to have people in my corner that know exactly what it’s like to be in my shoes.

Nobody wants to battle a rare disease alone, and I am elated that we don’t have to.

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Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.