Duchenne’s Muscular Dystrophy

By Elisa

Luck has never typically been on my side, but I thought things might be different, just this once…

I know a situation like ending a pregnancy doesn’t seem like a game of luck, but this time it felt like a game of just how unlucky someone can be. My (very first) pregnancy started very joyful, we were pregnant the same time as my husband and my siblings on both sides of the family. It was perfect, they would be cousins and so close in age, and multiple friends pregnant as well. I also had a village that was able to experience pregnancy, post-partum, and all the following stages of life together. Timing of this pregnancy became the luckiest thing to ever happen to me.

Next, my bloodwork and scans, everything normal, so normal! The luck continues… 

that was until I got the results from my genetic testing, I remember hearing my OB say, “you really aren’t required to do all this pre-testing if you don’t want to, it’s very precautionary but I don’t suspect any issues.” Wow, maybe I shouldn’t have gone through the trouble of getting genetic testing just to scare myself, but I knew I wanted to be prepared with any situation. I couldn’t have expected what was to come.

Positive carrier for DMD, Duchenne’s Muscular Dystrophy. Surely this won’t affect the fetus, I’m only a carrier and my husband is negative for everything! Nope. Here is where I felt most unlucky. DMD primarily is passed on from the mother’s affected X-chromosome and if affected, it only shows symptoms in boys. I, of course, was having a boy.

We went through a CVS sample collection and hoped for the best. There’s a 50% chance he is not affected. I tried to stay hopeful and instead of announcing my pregnancy at 14-15 weeks, I was hoping for a result I had no control over.

New Year’s Eve, I got the call, “so happy I was able to catch you before the end of the day!” OK, sounds hopeful enough, maybe this is good news. Nope. “So, the sample did test positive for DMD which I know is not what we wanted..” my whole world went black. I knew it was the beginning of the end.

After the result, I met with a pediatric neurologist who had many patients with DMD, none with the exact mutation I was carrying. The mutation is very unknown so the outcome could end up being anywhere from asymptomatic to DMD for the baby. Another layer was added to this decision of whether to keep the pregnancy. I of course, selfishly wanted to keep the pregnancy despite knowing the risks later in life and quality of life overall.

After lots of uncertainty and considerations, we ultimately decided in proceeding with a D & E procedure at 17 weeks.

If that wasn’t hard enough, my hospital and all the other hospital systems in my region either did not complete D & E’s or it was not covered by insurance. I also had this crazy feeling like, why am I carrying this baby if I know I will terminate? Making me want to get the procedure done as soon as possible. I had to go to an abortion clinic, feeling like I was the only person there who was ending a very much wanted pregnancy. I spent the day just wanting to get it over with.

Now, a few months have passed since the procedure and all the emotions I thought I would feel in the abortion clinic are coming to the surface now. I feel like I didn’t properly grieve what was happening until much later.

Currently, I am struggling a bit with all the people who are successfully having their babies that were supposed to grow up with mine. While I have so much love for my family and friends, I have a sense of anger and jealousy I was not expecting. All I can wish for is to try again either naturally (50% chance of testing negative for DMD) or via IVF.

Wish me luck!!!