When I was in second grade we had to do an “All about Me” book and under “What do you want to be when you grow up?” I wrote “A mom.” I remember my teacher suggesting I dream a little bigger (which annoyed me tremendously), but I obliged and wrote in “or a Dallas Cowboys Cheerleader” (I’ll assume that teacher wishes she had stuck with the whole mom thing). But, needless to say my entire life I dreamed of becoming a mother. Sure, I forgot the whole cheerleader thing and instead became a registered nurse, but the mom thing was always my ultimate goal.
When I met my now husband Dan I was eighteen, a freshman in college, excited about the new friends I was making and completely infatuated with the blonde hair, blue eyed quiet guy who played guitar and had a cartoon of Dave Matthews Band as his desktop screensaver. Over the next eight years Dan and I both grew into better versions of ourselves, sometimes together and sometimes apart. I worked my way through nursing school as a CNA, graduated and accepted a job as a registered nurse in the Intensive Care Unit of the community hospital I worked in. Dan finished his degree in accounting, started working as a tax accountant and earned a Master’s degree in taxation. We were married on a perfectly sunny day in September surrounded by the people we loved most in the world, spent 13 days being the happiest newlyweds in Greece, and then settled into our life as husband and wife.
Over the first year of our marriage Dan and I learned a lot about ourselves as individuals and as a couple. We learned I should always do the laundry and Dan should always wash the floors. We discovered we prefer going to the grocery store together, we’d rather stay in and order pizza on most weekends than go out and we both have a competitive side which comes out most often while watching Jeopardy. We found a great condo we loved, we enjoyed weekends away, we felt really confident in our life as a couple and we felt ready to bring a child into the world.
Dan was not as motivated to start our family as I was so we didn’t put too much pressure on ourselves the first year, I stopped taking birth control (which I had been on since I was 19 and was diagnosed with endometriosis) and we took our chances. But after seven months off birth control and one ridiculously expensive anniversary weekend away, we both agreed it was time to start really trying for Baby L. (A part of me did wonder why I hadn’t gotten pregnant, but I tried very hard to silence those voices in the back of my head saying there was a problem, mostly because I did not want to face that nagging feeling that something just didn’t feel right.)
So over the next few months Dan and I tried for a baby and I mentioned to my OB-GYN at my annual appointment in December we were actively trying to start our family. My doctor encouraged me start religiously using the ovulation kits I was using and to try to “pay more attention to my body.” I was walking out of the exam room when my physician stopped me in the hallway and casually asked if I was interested in getting some genetic screening done, something many people wait to do until after their pregnant, “just to be prepared, seeing you’re not pregnant yet.” I agreed, had my blood drawn and was on my way.
I should confess I did not think much about this testing, it was a formality in my mind. Dan and I had no family history of any genetic illness, I was only 27 years old and relatively healthy, this testing was a simply a box checked on our way to baby. That is until three weeks later when the doctor’s nurse called me and told me I tested as a carrier for Spinal Muscular Atrophy (SMA) and Dan should get tested. I was shocked by this and even though I told myself not to I found myself googling this genetic illness I had never heard of. What I found scared me: SMA is the leading cause of genetic death in children before the age of 2, 1 in 40 individuals is a carrier for the mutation, there is no treatment and no cure for SMA. And I, was a carrier.
I’ll fast-forward the three stressful weeks that passed between my results and Dan’s bloodwork, to a Monday in March when my doctor called me at 7:30 in the evening while I was finishing report at work, to a moment where I stood in the corner of a hallway in the intensive care unit and listened as my doctor explained my handsome, blonde hair, blue eyed, not quiet anymore husband was also a carrier for SMA and encouraged us to stop trying to conceive a baby naturally.
I’ve heard people say your life can change in an instant and I’m not being overly dramatic when I say ours did. I think one of the hardest thing I have ever done in my life was sit Dan down that evening and talk to him about our diagnosis. I felt an overwhelming sense of loss for something I never even had.
See my entire life I imagined my pregnancy a certain way: it involved joyfully telling my husband we were having a baby, I would create handwritten cards which on the outside would have all the names I’ve called my parents, brothers, sisters, in-laws, and on the inside have what our future child would call them….grandma, poppy, Auntie. (Another example “gold dress Meghan” she thought about things like this.) I imagined creating the nursery, I pictured the joy I would feel as a life grew inside me and the excitement Dan and I would feel over the nine months we would have happily preparing for our child. It took one instant standing in that hallway for me to lose those dreams and that is a loss that is difficult to describe.
The medical fact is SMA is a devastating disease. Dan and I have a 25% chance of having a child with SMA (Dan and I are both the third of four children, statistically if we were our parents us or one of our siblings would have SMA). If we do have a child with SMA they have a 60% chance of having SMA I which gives them an almost 100% chance of dying before the age of two. Children with SMA I and II very rarely live until adolescence, those that do have severe disabilities as SMA attacks the motor nerve cells in the spine taking away the ability to walk, talk, eat, and breath. While the length of life and quality of life varies based on type (SMA 0, I, II, III, or IV) there is currently no treatment and no cure.
Dan and I could take our chances and conceive naturally, but the testing to determine if our child has SMA while pregnant runs a 1 in 100 chance of miscarriage, would be available after I was already 3 months into our pregnancy and only tells us if the child has SMA and not which type. I do not know how someone makes a decision with this information. The testing alone could kill a healthy baby. The testing could not tell us if the child had SMA I and would have a short life filled with suffering or SMA III which means a longer life, but unknown disabilities. There is no way I can prepare myself for the horror of possibly feeling a child kick inside of me (I’ve never been pregnant, I have no idea how this feels) and being asked if I want to continue with my pregnancy. I try, but I cannot conceive how anyone makes these decisions. Dan and I are lucky though because we can conceivably never have to make these choices.
Science is an amazing thing and by using invitro fertilization and pre-genetic diagnosis (IVF with PGD) Dan and I can have healthy children. So after meeting with two genetic counselors, after talking over our options in detail with my OB-GYN, after choosing a fertility specialist who was well versed in IVF and PGD Dan and I decided the best decision we could make for ourselves and our future children would be IVF with PGD.
Let me take a moment to say something here. We made a decision we felt was best for us. I by no means think we made the only right decision. I have family members who upon hearing of our diagnosis said they would have ‘just not had children’, some told me they would have ‘taken their chances’, and my sister told me she would have adopted a child from Africa. Maybe those choices would have been the best for them. Maybe if they were actually in the position Dan and I are in they would have decided something else. I have no idea. What I do know is we chose this path in our journey. For better or for worse.