Our Story: How Carrying a Genetic Disease Impacted Us Becoming Parents

I’ve had several people ask me to talk more in depth about Chandler’s and my journey to becoming parents in light of discovering as an adult that I carried a genetic disease. Part of this story was shared on the Mom Who Works Instagram page, which I highly recommend following. Full story below:

I am the carrier of a very rare and very horrible genetic disease. Most babies born with the disease do not live past the age of two. I found out about the potential of my being a carrier when I was 22 years old, just a few weeks before my wedding day. I don’t think I really comprehended the impact this information would have on my life. I was on cloud nine, consumed with wedding planning… nothing could bring me down. So, it was in one ear and out the other.

But after we returned from our honeymoon, the impact really started to sink in. You see, in each generation of one side of my family, a baby had lost his or her life here and there. I don’t say it that way to make light of it, but it just wasn’t all that uncommon in those days. It wasn’t until a family member in my generation lost her baby when he was just 10 months old, that an autopsy revealed this disease to be the cause.

[Side note: I’m not mentioning the name of the disease only because it’s very complicated and rare, and some of the information on the Internet is misleading. But, suffice to say, it’s a mitochondrial disease.]

Even though Chandler and I knew we didn’t want kids for a few years, we decided to proceed with genetic testing immediately. This would allow us to have all of the information upfront. I don’t think either of us regret this decision, but it certainly changed the course of our lives.

After meeting with genetic counselors for testing, I was confirmed as a carrier, meaning there was a chance I could have a healthy baby and a chance that I would have a baby with the disease. This development caused me to really struggle with whether or not I wanted kids. If one of our kids got the disease, our lives would be hospitals, heartache and a VERY untimely death. If they didn’t get it, but carried it, they’d have to go through everything we have gone through – the testing, the emotional turmoil.

To my knowledge, Chandler and I were the first people in my family to know about the disease BEFORE we decided to have children. This gave us a huge advantage, if you can call it that, but it also made the decision incredibly hard.

After years of putting off the decision, we finally decided we’d give it a try the natural way. After all, there were way more healthy babies born into my family than unhealthy. And I had a percentage breakdown of my odds.

[Side note: The “unnatural way” would have been a procedure that has never been performed in the United States. It would have been costly in and of itself, in addition to requiring at least one out-of-country trip.]

Once we got pregnant, I was classified as high-risk and my prenatal care included a lot of additional testing. We were hoping for a boy, because the disease is maternally inherited. So, if we had a boy who didn’t HAVE the disease, he also COULDN’T carry it. Meaning, it would end with him.

Prenatal testing looked good, but we were still so worried. The disease is so rare that the lab that analyzed the test results had NEVER tested for this disease before. We were so worried they didn’t know what they were supposed to be looking for. Luckily, we were also able to consult with the lead researcher of this type of disease, who works for a university in Australia.

We did everything we could, but we still wouldn’t know for sure if our baby had the disease until he was born and his umbilical cord blood was sent off for final testing. It was the longest few weeks of our lives – being so overjoyed with the arrival of our beautiful son; so tired from round-the-clock feedings; and, on top of that, the added pressure of not having confirmation our son wouldn’t die.

In the end (or, rather, the beginning), prenatal testing was correct – Brecken does not have the disease. I have never been more relieved in my life. I breathed a deep sigh of relief for the first time since I found out I was pregnant.

Now that I’m a mom, I have a better understanding of the unimaginable heartbreak of my family members who went through this without all the data Chandler and I had. I can’t imagine the deep loss they must have felt. I’m sure they still feel it. And it’s not fair. No pregnancy or infant loss is fair.

If you are in a similar situation and have any questions, please don’t hesitate to reach out. I probably won’t have the answers, but I’m happy to offer encouragement and support.

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