A What Now?

Photo cred to my talented and amazing friend @mrs.hambley

I’ve been pretty quiet about this because we don’t have much information but I think it’s time to talk about it. At 9:30 at night we got a text message from our Coroner explaining that he would like to speak with us about Beau’s genetic testing results. At first we were confused because he told us before it would be unlikely we would ever hear back about his genetic testing, because it is so rare that they find anything. With Ava three months old sleeping in her bassinet next to me we knew we wouldn’t be getting any sleep that night until we knew more. We demanded to speak with him right then to find out more. He went on to tell us that they found a variant in Beau’s genetics that they're unsure of the significance or meaning, or if it even relates to anything at all. He told us that it was called a genetic variant of uncertain significance. More specifically gene Myh7. I was probably as confused as you are by what that means.

In laypersons terms, they found a gene relating to Beau’s heart that they're not familiar with and haven’t seen before. The way I like to explain it better is, if you remember Angelina Jolie going through her double mastectomy, it was because she carried some thing called the BRCA gene which is a gene that is KNOWN to cause breast cancer or can lead to breast cancer (I’m not an expert so don’t @ me). The BRCA gene is a known variant of significance, whereas Beau’s genetic variant is unknown and could mean something or it could not.

He quickly gave us the lowdown at which point by that time it's like 10:30 at night. From there we found out we’d go through some testing at the heart institute. Then the Corner had said, “Oh well at least you don't have any other children right now so that wouldn't be a concern.” and we were like hold up, we actually do. So Ava is now implicated in all of this. She was born into something that she never asked for? As a mother I feel like I already couldn’t protect my son and now how do I protect her? Something also to note, when Ava was in utero she had a heart arrythmia along with some other issues. Nothing came of it after she was born though but it definitely weighs on me with this new information.

They first began by looking at all of your family history (which I have a couple of missing pieces, so that complicates things even more), and then scheduling appointments for us to have our hearts examined. Mario and I had our tests done in the Summer of 2022. We had heart monitors on for 72 hours, we've done echo scans on our hearts and a few other minor tests. This process has been on going for nearly a year with limited answers. Mine and Mario’s testing came back normal with plans to test every 2-3 years for maintenance and further monitoring. Ava recently has been scheduled with CHEO (our children’s hospital in Ottawa). She will be monitored for over three hours at the hospital and then leave with a heart monitor on for 72 hours …. and then we wait again for the results.

Now if you are anyone like me you might be thinking why not test all of our genetics and not just our hearts? Same girl, same! Apparently doing genetic testing when they don’t know the significance is not an option. The only way they would do it is if they knew what the variant meant or if there was cause to do so after our heart testing. It was also explained to us that anyone of us (you included) could be walking around with “miss spellings” in our genetic code and it could mean absolutely nothing.

Part of me feels like it's a blessing to potentially have some sort of answer and then be part of me has this fear of the unknown and I kind of wish we could've just remained “blissfully” unaware. I guess that's not reality and if we could have answers of course we we would want that.

This is probably going to be a much longer road ahead but with that being said maybe we'll find out some more information or maybe some other parents will be spared before they lose their child. I guess that's all I can really hope for.