We received the results of Becky’s genetic testing.
As we expected, Becky has Down syndrome.
Most of us have 46 chromosomes, 23 sets of 2. Becky has 47, with an extra copy of Chromosome 21. There are three types of Down syndrome. Becky has the most common type, which occurs 95-97% of the time. The genetic counselor referred to this as a straight or free trisomy 21. It is a random, genetic event and not an inherited condition. This type of Down syndrome happens sporadically and is most likely related to advanced maternal age.
Becky’s karyotype (her genetic map) shows that the third copy of Chromosome 21 is repeated in every cell of her body. There can be a trisomy, or third copy, of any chromosome. However, there are only a few trisomies that result in a viable pregnancy, albeit with significant variations in disabilities. Here is a picture of Becky’s special 21 chromosome:
I remained composed while the resident gave me the results. But, when she left, the tears flowed again. The emotion surprised me as I felt a range of feelings simultaneously. And I thought I had already dealt with this.
Strangely, I immediately felt relief. Relief that Becky does have Down syndrome. I’m beginning to feel it’s an incredible privilege that our family has been chosen to nurture and protect this unique life. I had this nagging fear that maybe Becky didn’t have Down syndrome. And I wondered how I would react if her test came back negative when we had already planned for it to be positive. This was such a small chance as almost improbable, but still I wondered. Hence my relief at the test results.
I cried because I was filled with a sense of dread at the unknown. Surgeries. Doctors’ appointments. Therapies. Special clinics. Fear of procedures and outcomes and the ultimate, unspeakable fear of her unexpectedly dying. Every day seems to bring something new with Becky. As the days turn into weeks, it sometimes feels like we will never leave the NICU for home.
I cried at the memory of some of my initial thoughts about Becky. Selfish thoughts focused on my own wants. My future. My plans. My dreams.
Mine. Mine. Mine.
I never imagined I would be pregnant at 46 or that I would potentially carry the pregnancy to term. I had plans. I had goals. I had crafted a new reality for myself now that all of my children would finally be in school. A baby wasn’t in this shiny future, and certainly not a special needs child.
Well, that future is mine no more. Truthfully, it never existed, save in the limited scope of my imagination.
I wish I had reacted with complete acceptance and grace. But I did the best I could. I needed to grieve the loss of my imagined future. I suppose this will be a continual process. I am grateful for the grief. And the tears. Together, they create space in my soul to accept Becky with all of her potential and limitations.
We haven’t been handed a definite future or a specific road map. Rather, we have a new travel companion. There is no clear path ahead for Becky, save for the steps she takes today. But we are here to take them with her, wherever those steps lead us.
Our family has been given a very special +1.
As the emotion washed over me, I grabbed for the flimsy hospital Kleenex. Holding Becky, I marveled at the spectrum of my reaction. Somehow, it was fitting to be alone in this profound life moment. With no one to talk to, I had to sit with myself, my +1 chromosome baby, and my rapidly coursing thoughts. Like a roulette ball spinning into place, my thoughts finally settled on a single place. And I pondered it long and hard: How can the human heart hold so much feeling and emotion all at once? My heart felt as if it could burst.
Over the past months, I have often felt like the Grinch, the grouchy Dr. Seuss character who bemoans the Who’s celebration of Christmas. At the story’s end, the Grinch realizes the true meaning of Christmas and zealously joins the celebration. Dr. Seuss summarizes this transformation:
“Well, in Whoville they say – that the Grinch’s small heart grew three sizes that day. And then – the true meaning of Christmas came through, and the Grinch found the strength of ten Grinches, plus two!”
I believe my heart has grown. I feel it swell every time I walk into the NICU. I can hardly gown up and sterilize my hands fast enough. My healing, post-partum body waddles as fast as it can down the long hallways, anxious to see Becky’s sweet little face and hold her struggling little body.
And so I rephrase Dr. Seuss’s words for my special +1 moment. The moment when the doctor confirmed our new life path:
“Well, in the NICU they say – that Kathleen’s small heart grew three sizes that day. And then – the true meaning of life came through, and Kathleen found the strength of ten Kathleens, plus two!”