Beyond the Diagnosis of Down Syndrome

Part 2: A journey beyond the diagnosis: reclaiming the joy of pregnancy

Is there life and joy and hope beyond the diagnosis of Down Syndrome? After we had been given a prenatal diagnosis of Down Syndrome at 13 weeks in my pregnancy, my weeks became filled with close monitoring and regular ultrasounds. The periontologists performed almost weekly ultrasounds to track the fetus’ growth. They were concerned about the enlarged jugular veins and a fluid cyst that had developed behind the left lung, called a pleural effusion. They wanted to make sure the fluid cysts weren’t increasing as this could develop into fetal hydrops, a fatal condition for the fetus. Every week they gave me the

good today but let’s see what happens next week, you’re not out of the woods of losing this pregnancy” speech.

I was inundated with statistics about the possibility of additional complications, prognoses and predictions of quality of life. I was given information about support systems and associations available in Calgary. Researching Down syndrome brings a wealth of information. I found this overwhelming at first. At some point I had to stop myself from researching and looking at 1year, 5years, 10+ years down the road. I could only think about one step at a time – and not much beyond the diagnosis. I had to take things slow. I focused on my pregnancy and what I did have control over: being as healthy as I could. It is easy to feel lost when you are processing and trying to understand medical statistics and reading research articles.

At 18weeks gestation they started to perform fetal echocardiographs. This is a specialized ultrasound that can show the oxygenated and de-oxygenated blood flow through the fetal heart and thereby help cardiologists predict possible cardiac abnormalities. 50% of children with Down syndrome will have some form of heart defect. The heart is still very small at 18weeks, so they re-tested each week until they are able to see more clearly what was going on. At 20weeks the cardiologist confirmed her suspicion of an Atrioventricular Septal Defect (AVSD). This explained the fluid build up within the fetus, as the heart was inefficiently trying to move fluid throughout the body. This diagnosis didn’t come as a shock actually. Perhaps I was numb to it all, or perhaps I had assumed their statistical predictions to already be true. The good news from this ultrasound was that the pleural effusion was not present anymore and there were no other signs of anything ‘abnormal’. We were in the clear of fetal hydrops.

At 24weeks, I found myself on the uncomfortable examining table in the ultrasound booth. My technician was kind, and spoke gently to me, as she scanned over the fetus looking for anything new, anything ‘wrong’. I was used to this by now, every week I’d go in with a heavy heart as if preparing myself for some other news that would make my world fall apart again. However, something would cause a breakthrough in my heart and a shift in my thinking. Ever since my CVS was performed at 13weeks I could have known about the fetus’ gender. They had asked me if I wanted to know then but I was not ready. Today, I felt something press on my heart, I was ready to know, I wanted to know. Before all the prenatal diagnosis drama I had secretly dreamed of having a girl. I always tried not to put weight on this hope, but in the fragile state I was in, I guess I felt like I couldn’t face even the smallest disappointment. I was afraid. But today, the technician spoke to me with such empathy and kindness, that I felt safe enough to ask.

It is a girl.

This was the first time since my 12th week ultrasound that something positive, something normal was said about my baby. After all the conversations with all the specialists and all the medical terminology and assessments, I had lost sight that I was having a baby not a diagnosis.

Down Syndrome Hannah 2

She was no longer a fetus, a medical case study, a diagnosis, a list of statistics and a stereotype. She was a baby, my baby girl. And she was good. It was that moment that I decided to never let her identity be defined by her diagnosis. I am not denying her diagnosis, but I am not going to let it have the power to define who she is, and who she will be. It made me think about what we accept in our lives as truth. There is a difference between truth and facts. Somewhere along my pregnancy journey I had accepted the statistical facts as truth and that they had power over me and how I felt. This made my heart fertile for fear to grow. There is such power in our words, and so I decided to speak life and love over my baby and over myself. I chose to respond in love instead of fear. This would now define us. The way God sees us, and this Love would cast out the fear of the unknown. The fear of the future. The fear that comes with a diagnosis.

I was now ready to start to share my story and reach out to the supportive Down syndrome community around me. I contacted a mom who writes a blog and who does amazing work welcoming newly born babies with Down syndrome. It was so comforting to see that these families were real, happy, full of life and love. Their lives were still good, in fact their lives were quite “normal”. Yes, I had grieved the dream I felt I had lost when I was given a prenatal diagnosis, but now I realized I had not lost it at all. The joy and excitement in this pregnancy returned and we couldn’t wait to prepare and meet our baby girl.

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