As the pit in my stomach grew, I begged the nurse for more information. What could possibly be wrong to warrant us to stop having unprotected sex immediately? I am not the expert, the nurse said, but the counselor is. So you’ll have to wait until tomorrow for more information.
As a nurse, she may deliver bad news throughout her day, but as a patient I only hear this once. I hung up the phone feeling desperate for comfort, as was Scott after I shared the call with him. We’re actively trying to have a baby Scott. Do I go to urgent care and what – ask them to take out last night’s efforts? My attempt at dark humor lifts the tension for a brief moment, until we realize the uncertainty of the situation. The heaviness carries into the evening, where we reached out to three people we knew who went through this process – none of which received a similar call. We sit in a somber silence only hoping the following work day will offer us distraction.
The clock seemed to drag, but it was finally time to head to the campsite. Our hearts pounded with nervousness and urgency as we scrambled to meet, find parking, set up our campsite, and connect to WiFi. At last, we sit back in our chairs with the laptop displaying a loading screen, our nerves subdue and a sense of calm fills the air – perhaps it was the realization that we were surrounded by nature in a place people go to escape the bustle of reality. The feeling was short-lived, though, as our hearts pick up the pace and the counselor starts the meeting.
She introduced herself as the genetic counselor for the testing company, and though she does not specialize in any specific disorder, she will leave us with resources to those who can. We nod in ignorance wondering what this insinuates.
And so she begins..
Lindsay, you are a carrier for Duchenne Muscular Dystrophy, an X-linked recessive disorder, meaning it primarily affects males and there is a 50% chance of you having an affected male.
She proceeds to explain that Duchenne Muscular Dystrophy is a muscular deteriorating genetic condition that weakens skeletal and ultimately heart muscles. The DMD gene is found on the X-chromosome and responsible for producing the muscle producing protein dystrophin. Since I have a mutation on the DMD gene on one of my X-chromosomes, and since males only have one X-chromosome, there is a 50% chance a male will inherit my mutated chromosome and be affected. She also adds that as a carrier, I impose a risk of developing cardiomyopathy and should see a cardiologist. The further she explained, the further I sank into my chair. She concluded the meeting by providing us with several resources for our next steps. We closed the laptop and looked at each other in disbelief.
Scott, who my mom has always described as salt of the earth, immediately gives comfort and reassurance. There could have been a mistake. This does not run in your family. Let’s get a second opinion. As he paces, continuing his validation, I pick up the phone and call my mom who was anxiously waiting for a follow-up.
Mom, this is bad. We are going to have a son with no muscles and I am going to have a heart att – before I could finish Scott grabs the phone. Hello, he says with a composure that is contrary to mine, that is not true. He begins to reiterate the call with the counselor. He explained there is a 25% chance of an affected male, a 25% chance of a non-affected male, a 25% chance of a carrier female, and a 25% chance of a non-carrier female. He explains the course of action the counselor recommends and reassures my mom with the resources provided. He then ends the call and looks at me – shaking his head forming a smirk – I love you, but we’re going to have to work on your comedic relief.
We decided that there was truly nothing we can do, and reminded ourselves that we were not even pregnant. Let’s dwell on the now, and as of now, we are camping and surrounded by nature’s beauty. The following few days were spent riding the golf cart with our dog, card games with his family, and comforting distractions from the news at the beginning of our trip.
It was only a matter of days until we were home and I began to read the pamphlets the counselor sent. One evening turned into two weeks of consuming everything pertaining to DMD. I read every article on the first several pages of Google. I watched endless YouTube videos of families documenting their journey. Duchenne Muscular Dystrophy became my most viewed hashtag on social media. We had no option but to use the internet for comfort, as there was nobody in our lives who could relate.
I turned to my acupuncturist R for comfort throughout our journey. I was seeing her biweekly and this appointment could not have been at a better time. Maybe she has had a patient who went through something similar. We begin each session with a brief moment to catch up, and though my expectations were low, she confirmed she had never experienced the situation we were in. We go back into the room and she begins the session by placing the needles in their precise locations starting at the top of my head, making her way to my torso, then down to my feet. She exits the room, leaving me in dimmed lighting with the radio playing sounds of waterfalls and serenity.
I lie back, set up for total relaxation, yet I felt a whirlwind of the consumed knowledge and worry spin above my head like a tornado out of control. I wanted to scream – I needed to scream. A tear rolls down my face. I can’t move – well, of course I can yell out and have R end the session, but that would be ridiculous. In fact, this is ridiculous.
We have spent the last year obsessing over infertility, and now, we have to worry about what happens if we become pregnant, if we have a boy, and if he has this genetic disorder. This is not how this is supposed to go. I know it, I feel it, like I have throughout my life with my intuition. Suddenly, lying there on the table, my thoughts begin to shift.
I close my eyes and recall the last thing R said before closing the door; Breath in for four, hold it for five, breath out for six. I begin her breathing technique, and following my exhale I softly whisper; Coralee, I need you. God, I need you. Please, be with us in these moments and show me that everything is going to be okay.
Another tear streams down my face. This is the first time I spoke to Coralee since college, almost ten years ago, and it feels like she’s been waiting for me all along. I am finally relaxed, I feel peace, and an unexpected emotion – I feel hope.
I rush home and share the details of my session with Scott. Let’s move forward with fertility treatments, I say. He agrees. From the beginning, Scott has always been supportive of whatever I want to do – whether it’s proceed with treatments or pause on testing. I trust that you will guide us, he says.
The next day I request a call from the doctor and when that happens, I ask him to proceed with his previous recommended course of action – ovulation induction treatment. I really discourage this, he says, giving the results of your genetic test I believe you are a better candidate for IVF. He then explains something called preimplantation genetic diagnosis (PGD), where embryos can be tested for genetic disorders before implanting. As he’s explaining, the familiar tornado returns, but instead of succumbing to the anxiety, I end it. I hear you, Doctor, but your genetic counselor told us there is a 25% chance of something bad happening. What if I told you there’s a 75% chance that everything will be okay? There’s an unexpected moment of silence on the other end, until he breaks it – – alright then. Let’s do this.
