I stared at the pregnancy test for a long time. I could hardly believe what I saw. In fact, I didn’t believe it, and took two more tests just to be sure. They all read “pregnant.” I’d been longing for a second child, agonizing over it for months. But we struggled with the decision, wondering if it was even right for us to try. For my husband and I, it wasn’t as simple as just having another baby. When we learned I was pregnant again, we were excited, nervous, but most of all, relieved.
We decided not to learn the sex of our children before birth, and I was surprised to find that this was not common practice. Whenever someone would ask, "Do you know what you're having?" and I responded with "no," they always seemed genuinely surprised. More often than not, they were quick to follow this surprise up with some kind of well-meaning "as long as it's healthy" comment. I even found myself offering this answer before they had a chance to lower their raised eyebrows, because, let's face it, typically they were strangers and the sex of my baby is not their business. However, neither is that baby's health, because what if my unborn baby was not healthy?
My first child was born a big, beautiful and seemingly healthy baby girl. She had a calm and peaceful temperament (at least she finally did when we caved and gave her a soother), eyes always open and alert, taking in the world around her, and content in the arms of all our family and friends who came by to snuggle with her. As she grew and developed, she became a tiny ball of light and happiness, always smiling and cooing loud enough to make people turn and pay attention to her, greet her with a smile, and comment "what a beautiful baby." So when we learned that, at 15 months old, our perfect little girl had a rare chronic disease called cystinosis, it felt like all the light she had brought into my life had been eclipsed.
There had been signs along the way, perhaps glaringly obvious to some, but hidden from me by her beautiful smile. She was still wearing six month old clothes at a year old, but I figured she was so big to begin with that she was just slowing down. She was an extremely picky eater and had developed a declining interest in breastfeeding, but the doctors said we just had to keep offering her new food and eventually she'd come around. She was still the happy, content little girl who was hitting her developmental milestones (perhaps a little bit late, but all children are different) so I wasn't concerned when a doctor ordered some tests to see why she wasn't growing. Perhaps I was choosing to ignore those signs and stay in our perfect bubble, but as a first time parent I really didn't know what to expect or what was considered "normal."
Cystinosis is a recessive genetic disease, meaning that my husband and I are both carriers of one defective CTNS gene, something we did not know until my daughter’s diagnosis. She had a one in four chance of inheriting both of our faulty genes to get cystinosis. A 1-in-4 chance that our lives would totally change in the few seconds it took our doctor to utter that word. A 1-in-4 chance to live a life filled with constant monitoring, blood work, doctor visits, multiple specialists, a list of medications hanging on our fridge, and alarms for precise timing of her medications, even in the middle of the night. The heartache of knowing we had given this disease to our child and the fear of what her future might hold felt unbearable at times. As mothers we want to give our children everything, we want them to have every opportunity in this world and we want to shelter them from all the pain and harm we can. At the time of her diagnosis, it felt like I couldn't do any of that for her, like I had failed her.
But she was there to prove me wrong. It turns out that even at 15 months old, she not only remained a tiny ball of light and happiness, she also became a force of strength, determination and inspiration. It amazes me how someone so young can bring so much crazy hope into my life, even when things are at their darkest. Every day she proves to the world that no matter what life throws at her she will weather the storm and continue on with a smile on her face. Taking a page from her book, I realized that I can still be the strong, protective mama bear, the one who advocates on her behalf, who makes sure those opportunities stay open for her, and who loves her just as fiercely as ever.
But then there was the matter of having a second child, and in that decision, I was not the strong mother I wanted to be. The risk of passing cystinosis on to another child ate away at my resolve. I wanted another baby so badly, but to knowingly play those 1-in-4 odds was terrifying. It was not the thought of having another baby with cystinosis; my daughter proved early on that a child can still thrive with this disease. It was the guilt associated with knowing it was a possibility. What if one day that child grew to blame me for all the harm cystinosis might cause? Could I really handle that? Was I strong enough to take that blame and own it? Could I tell him that we played the odds on purpose?
In the end my accidental pregnancy felt like divine intervention. We were meant to have two children, no matter the medical hurdles that may come.
When I got to that stage of obvious pregnancy, the conversations with well-meaning strangers started up again.
Do you know what you're having?
No, we're keeping it a surprise.
Oh, well I suppose it doesn't really matter... As long as it's healthy.
This time the phrase cut into me every time someone said it. I know they meant no ill will and I tried to shrug it off as harmless banter, but I couldn't help but wonder exactly what that phrase implied. What if the baby isn't healthy? Is the love I have for my baby conditional? Will my life somehow become a sad story, filled with only pain and heartache? Will society view them as less acceptable, less beautiful, less worthy of love?
My son was born without cystinosis, though he is a carrier, like my husband and I. But the fact of the matter is.....whether or not a child is born perfectly healthy, the chances are high that their parents are going to love them just as deeply, their family will support them just as diligently, and there can still be happiness in their future.
Raising a child with a chronic medical condition is not easy. There are times when I wish I could bury my head in the sand, where I wish with all of my being that cystinosis did not reside in my perfect little girl. There is still darkness that creeps in from time to time but the light, love and joy that radiates from my two children and fills my heart with more peace and hope than I ever thought possible is worth every second of our time together.
So if you're ever asked whether you know the gender of your unborn baby, I have the perfect and most honest response, "No matter what, I will love them with all of my heart".
Written by Amanda Buck. Amanda is a mother to two beautiful children and began writing, after her daughter was diagnosed with the rare disease cystinosis. She started the blog Elsinosis: Living with Cystinosis to chronicle their story, advocate for her daughter and help other families in similar situations look for their silver linings. Her writing has appeared on The Mighty, Good Mother Project, The Love Letter Project, and she was a cast member of Vancouver's inaugural Listen To Your Mother Show. You can follow her family's story at www.elsinosis.com, on Facebook and on Instagram.
Image by Rebecca Hansen.
P.S. If this essay resonated with you, don’t miss our podcast episode on infertility