We make choices every day. Simple choices like what to wear, what to eat, where to go. There are also bigger life choices related to our career, buying a house, starting a family. A lot of the time (or in my case, specifically), we choose to do what would make us happiest or what would make most sense at the time. In my life, it made sense to join the Air Force, to eventually get married, and to buy a house. I based those decisions off logic and a little love. The next step in my mind was to add a baby to our family.
Naturally, joint decisions come with the choice to have a baby. What names do we choose? How will we discipline? Which brands will we trust to keep our little one safe? There was a much bigger decision we needed to make, though. One that could potentially affect the quality and length of life for our future child.
Did we want to take the chance of passing on my genetic disorder to a baby?
If you’ve read any of my past posts, I’ve mentioned Fabry Disease. I inherited it from my father, and he inherited it from his mother. It is passed down on the X chromosome. The odds of passing this on are 50/50.
I have to admit, despite those odds, I still selfishly wanted to have a child. I looked at my life and how I didn’t view it as diminished or less-than because of this disease. It was very normal and, like anyone else, I had boundaries on what my body could handle. Not a big deal, right? Wrong. This disease affects males and females differently. Without getting too deep into the science of it all, the average lifespan for males is in the mid-50’s. Women have better odds and can live much longer lives, but there is no promise of that depending on the severity of the mutation inherited.
I did research to better understand my options. Many doctors suggested I undergo in vitro fertilization (IVF), but my insurance didn’t cover it and my husband and I couldn’t afford it out of pocket. Not being able to afford IVF also ruled out being able to afford an adoption. We were now at the option of possibly not having a child. My husband was fine with that as he already had a daughter from a previous marriage, but as much joy as she brought us, I still deeply yearned to experience carrying a child of my own.
This intense need to have a child not only stemmed from the annoying ticking of my biological clock, but from two previous miscarriages. Those losses heightened this primal motherhood demand that my brain and heart could not disregard.
In March of 2017, I found out I was pregnant again and this time, it stuck. I was elated. I was going to be a mother! Shortly thereafter, we found out it was going to be a boy. Our blended family would soon be complete with a daughter and a son. In all of my happiness, I hid a thought in the very back of my mind. Will I pass on Fabry to my child? That thought birthed more thoughts. How will I explain it to my son if I do pass it on? Do I tell him the life expectancy of males? Am I ready to deal with the guilt of passing it on? And even more morbid, Have I already killed my son?
It was too much to think about. I couldn’t torture myself with those thoughts. Modern medicine is amazing and I needed to trust that everything would be okay. And just like I prayed every night for a child, I prayed for a child free from this disease. I prayed and prayed and prayed.
There’s Always a “But”
When our son was born, all of the initial newborn screenings returned no alarming results. He was healthy, based on what the state of Alabama tests for, but Fabry Disease is still so rare that it is not included in the newborn screening in every state. We are fortunate to live near such a great medical community, that getting an appointment to test for this disease at Children’s of Alabama was easy. My two month old had his blood taken from the vein and as he cried, my heart broke. The pain of this test would either be the start of a long road ahead or the closing of a book I never wanted to read anyway.
The Last Chapter
“I have good news,” the doctor said to me this past April. “Your son tested negative for Fabry.” I was so relieved that I lost all composure and took a few minutes to let my body rid itself of the anxiety and fear it had been harboring for the past year since finding out I was pregnant. I cried. I thanked God. I spread the good news to family and friends.
My choice to have a child, knowing that I could’ve passed on a life-ending disease, was not easy. It may not have been smart. I know it’s not what others in the Fabry community have chosen for themselves. I will never take for granted how beyond lucky we are. I battled with the dark thoughts of having to explain to my son what this disease is and what it does to the body. Fortunately, I will never have to give life to them.
I ignored the odds. I made a choice based off love, and I can confidently say that this disease ends with me.