When you start thinking about having a family and especially when you become pregnant, you begin to dream about your future child – will she look like me? Will she inherit my intensity or be more laid back like her father? Be a teacher or an engineer? So many thoughts and hopes crowd your mind, but rarely do we ask ourselves if she will inherit a genetic disease.

This is probably because worrying about disease is not very much fun… besides, these days I need to worry about how I am going to keep my breakfast down and how I am going to stay awake through yet another meeting at work.

But then you visit your doctor and if your doctor is anything like mine, you get a big folder with 6,000 pages of information (ok, maybe not 6,000, but it’s a lot) about tests you’ve never heard of that are supposed to help tell if the baby is healthy.

One of those tests is for carrier screening. And in your spare time you’re supposed to figure out which of these tests, if any, you want to pursue. So instead of going through everything you tell yourself that you don’t have any family history, so there’s nothing to worry about, right?

The truth is, most of you are right. But… what if you’re wrong? As a genetic counselor, I’ve seen many families affected by genetic disease. Most of them are just like you and me – they don’t have any family history, no reason to suspect this would happen to them.

Nonetheless, because of an autosomal recessive condition (see sidebar) these unsuspecting families have been devastated by the loss of a child or must grapple with finding resources for children with intellectual or physical disability. My job is to encourage patients to think about what they would do with the results of a genetic test before they take it.

Fortunately, for carrier screening, there are lots of options. But my dirty secret is that when I had carrier screening, I wasn’t sure exactly what I would do if I found out I had a high risk. And this is what I do for a living. If it’s confusing for me, I can’t imagine how other women must feel. What I was sure of is that I wanted those options. I wanted the opportunity to make a plan and I didn’t want to be surprised.

In the end, I found out that I am a carrier of Niemann-Pick disease type C. Since I was positive for a condition, my husband also went in to get carrier screening to make sure he was not a carrier of the same condition. Luckily, he tested negative, so our risk to have a child with the condition is lower than one percent. I like those odds.

Knowing–really knowing and not just assuming–that my risk is low, not only for Niemann-Pick Type C, but for over a hundred other genetic diseases is comforting. So now I can get back to worrying about how I’m going to keep my breakfast down… and more importantly, what I will name my little girl when she enters this amazing world.

Reviewed by Kaylene Ready, MS, CGC

Kaylene Ready originally wrote this piece when she was a Myriad genetic counselor. She is a former Board of Directors for NSGC and is currently employed at Juniper Genomics.

Need help talking to your doctor about getting screened?

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What is an autosomal recessive condition?

An autosomal recessive condition is a genetic disorder that happens when a person inherits two copies of a changed gene—one from each parent. These genes are found on autosomes, which are the non-sex chromosomes. If someone has only one changed gene, they are called a “carrier” and usually don’t have symptoms. But if both parents are carriers of the same condition, there’s a chance their child will inherit both changed genes and have the disorder. Examples include cystic fibrosis and sickle cell disease. Carrier screening can help people understand their risks before or during pregnancy.