Love, Marriage, Science and a Baby Carriage

Technology brings hope for having a healthy baby

I’m not going to lie to you: Writing this article is making me sweat. I’m going to talk to you about a topic that changed my life in the most profound, positive way, but I still feel scared to share it. 

I was diagnosed with myotonic muscular dystrophy (MMD, or DM) when I was 20 years old. I had been dating my now-husband, Cory, for about a year, and I knew that he was the one. While I was head-over-heels and floating on cloud nine, I also struggled with a deep sense of dread and responsibility. 

My dad has MMD, and I had no idea if I did; but I knew that if I was going to spend the rest of my life with Cory, he deserved to know early on what his future might look like, because we all know this disease can affect the spouse in a tremendous way. 

I told Cory before the DNA test that he needed to think about what he would do if it came back positive. I essentially tried to talk him out of being with me, because I didn’t want to possibly burden him decades down the road. 

Cory also wanted children, but if I had the disease, I knew I wouldn’t have them. After seeing how this disease affected my dad (and mom), there was no way I was taking the chance of passing it on to someone else. 

You’ve never met Cory, but I can assure you that at this point in the story, he’d interject that not being with me was never up for consideration. (Well, maybe when he found out that I didn’t actually like football, like I said I did when we first met, or maybe when he realized that I leave a pair of shoes in every room of the house, or maybe when he learned that I’m anxious and prone to worry; but muscular dystrophy? Not a chance.) 

We were engaged in May 2010, and spent that summer backpacking through Europe and planning a wedding. When we got married the following August, the thought of children seemed so far away that I had almost forgotten to worry about it. 

It was around the time of our engagement that I heard of a procedure called pre-implantation genetic diagnosis (PGD). It sounded space-agey and impossible to understand, but I knew that it might give us our one shot at giving MMD the big middle finger and taking control of our family’s future. 

By 2014, the late-night parties had been attended, the travel had happened, and I was surprised to find myself actually wanting a baby. It was a reality that I had distanced myself from, so as not to become too attached and disappointed, but PGD gave me hope. 

By that time, we had looked further into PGD and had found an in vitro fertilization (IVF) doctor in our area who was familiar with the process. 

I’m not a doctor, nor do I play one on TV, so bear with me when I explain PGD as an option for people with chromosomal diseases to have healthy biological children. 

The process started with a simple blood draw from me, and mouth swabs from my parents. All of that DNA was sent to a lab in Chicago, where they spent several weeks essentially developing a DNA map. 

I then went through the egg retrieval that any IVF patient would experience (appropriately, on Easter weekend). I admit, I felt like a bit of a back-alley junkie with all the needles and pills that overtook my bathroom during the weeks leading up to my retrieval, but that’s par for the course. 

The initial baby-making part happens in a lab. Never in a million years would I have guessed that my child would be created under fluorescent lab lights while I sat in a separate room recovering from anesthesia, but I’m essentially a Jetson. 

News came quickly that 18 eggs were retrieved and introduced to sperm, and not long after, we learned that nine survived until the day five biopsy. 

Then we waited. 

My biggest fear was that I would have no healthy embryos, but about a month later, we received news that five of the embryos were healthy! We were in business, folks, and we were overjoyed. 

At that point, I went through a typical IVF cycle and frozen embryo transfer. I got pregnant after our first transfer, and our healthy son was born in March 2015. 

I’m living a life that, eight years ago, I didn’t think could ever be a possibility. This story isn’t meant to be a parade of my good fortune, but to serve as a real message that my family is not an exception to the rule. While PGD is a complicated process and outrageously expensive, it’s a real, viable option for the average person. 

Do we have an outstanding loan for the procedure? You bet. But we’ll have no qualms telling our future teenage son, “You’re helping us pay for your college; we covered the conception bill.”

Colleen Nichols, 28, is a freelance writer and life coach in Richmond, Va., living with type 1 myotonic muscular dystrophy.


How Does it Work?

Preimplantation genetic diagnosis (PGD) is a procedure used by prospective parents who are trying to prevent a disease-causing genetic mutation from being passed on to their offspring.

Couples first go through in vitro fertilization (IVF), in which their sperm and egg cells are brought together in a laboratory dish. PGD then requires removing a cell from an IVF-produced embryo and testing it for the specific genetic mutation. An embryo that doesn’t show the mutation can be implanted in a woman’s uterus.

Families interested in fertility options should always consult with their MDA Care Center physician and health care team. The MDA Care Center team can also assist with finding a genetic counselor in their area if there isn’t one who is a member of the MDA Care Center team. Locate your nearest MDA Care Center at mda.org.

Editor’s note: MDA wants everyone in the community to have a space to share their personal stories. We also work to ensure our families receive information that helps keep them up-to-date on all available options. If you’d like to share your experience, send an email to QUEST@mdausa.org.

MDA Resource Center: We’re Here For You

Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.