Perspectives of The Pompe World

“Carrier status” is something that comes up in this community often. That’s because of the nature of Pompe Disease being Autosomal Recessive. As you can see, that means that children born of those parents have a 25% chance of having the disease (inheriting 2 mutations) and a 50% chance of being a carrier (inheriting 1 mutation.) 

When our second child was diagnosed at just a little over a week old, we learned that this was because she inherited the mutation I have, and the one her father has. The geneticist delivered this hard news to us and then had to also let us know that if her older brother has not already been tested, he would need to be. Time stood still once more as we considered that he had a 25% chance of having Pompe too. 

Fortunately, we learned that he was screened as a newborn in 2017 in our state and did not have the disease. While we were absolutely relieved, we also understood that he still has a 50% chance of being a carrier. So what does this mean? 

It means, he may be a carrier just like myself and his father. We went our entire lives until that point having zero idea that we were carriers. And we only learned we were when we had a child who was diagnosed. So carrier status usually has little significance until family planning is considered. Since he was only 2 years old at that point, we knew he would not be having his own children any time soon, and decided to wait to find out. In the moment, we felt like his sister’s diagnosis was so much to digest, and we just didn’t want to add something else to worry about if it wasn’t a priority. 

In some cases, the carrier status can decrease GAA levels in a way that they can present mild symptoms aligned with Pompe Disease. But other than that, it’s just important to know that a carrier could have an affected child if their partner is also a carrier. This means that when our son grows up and wants to have children of his own, he will have to test himself and his partner. From there, they will decide on how to proceed with planning their family. 

Many disease follow an autosomal recessive pattern and it’s important to know if you carry mutations for diseases like Pompe. A study done in 2015 estimated that on average, most people carry at least one to two mutations for genetic diseases (Science Daily, 2015,) so knowing which ones you and your partner carry could be beneficial for future family planning. 

References: https://www.sciencedaily.com/releases/2015/04/150408100522.htm#:~:text=Humans%20carry%20an%20average%20of,inherited%2C%20according%20to%20new%20estimates.