Introducing Karen and Hannah

I hope you’ve enjoyed the first two posts in our blog series on Down Syndrome. Before I introduce you to Karen and Hannah, if you missed the previous posts you can read them here:

  1. Sam’s story
  2. Chantelle’s  (genetic counsellor) perspective

Now it’s Karen and Hannah’s turn! I am genuinely struck by how difficult the task has been for these mothers to document their pregnancy, processing and emotions so please take the time to read, learn, empathise… and then log in and encourage them. They are sharing their story in the hope that other expecting parents can feel less lonely.

This very special mom, Karen Dube studied at UCT with me in Cape Town many years ago 😉 She now lives in Canada with her husband Brandon, has 7 year old twins and little Hannah joined them last year. Hannah recently turned 1. This is Karen and Hannah’s story and I’m going to publish it in 3 parts so make sure you follow this blog to read part 2 & 3.

Down Syndrome Karen

Part 1: A story of prenatal testing: Expecting the unexpected

We’ve all heard the saying,

I’m just happy if my baby has ten fingers and ten toes.

It’s true that every pregnant woman hopes for a healthy baby and we probably convince ourselves that this is all we hope for. But if we were truly honest we would probably have to admit that what we nurture inside of us is far more than ‘just’ a healthy baby. We dream of so much more.

This was me, less than two years ago. I was pregnant with our baby #3. We had waited a long time before trying for another. My first pregnancy was a twin pregnancy and though everything went well, there was a lot of surprise and anxiety with a “higher” risk pregnancy. My boys are now 7 years old and are such awesome kids. This time, however, I hoped for only one baby. I hoped for a boring, typical pregnancy.

It was my routine 12 week ultrasound. I wasn’t even thinking about the purpose of this scan, other than to be able to see my baby. I was aware that there were important checks that the technician was looking for, but that was far from my thoughts. However, something during this ultrasound didn’t feel right, and I couldn’t shake off the uneasy feeling in my heart. I made a mental note of the measurement. 5.4mm. I didn’t know what this measurement meant. The technician completed her assessment, and abruptly told me we were finished and that I could leave. That was it. No explanation or reassurance. I walked to the front desk, got my picture and sat in the car for a few minutes. What just happened? I looked at the picture in my hand and I instantly knew something wasn’t right.

 

My family doctor wasn’t anticipating anything unusual with this ultrasound either. He hadn’t even ordered the blood work that is meant to correlate with this first trimester ultrasound. I had also not requested further prenatal testing. I am a healthy, under 35 years old that presented with very few potential risks. At the age of 33, a woman has a 1: 625 risk of having a child with Trisomy 21 (Down syndrome), and a 1: 286 risk of having a child with another type of chromosomal abnormality. Many chromosomal abnormalities result in early miscarriage, so the fact that this pregnancy was going well so far, made me feel like we were out of the risk period and I was excited to make my pregnancy announcement on Facebook after this scan. The first trimester ultrasound is a routine scan done between 10-14weeks gestation where various measurements, such as crown-to-rump length (CRL), general anatomical assessment for any obvious anomalies such as spina bifida, and the nuchal translucency scan can be performed. The nuchal translucency scan can only be performed in the window of the 11week-13week +6days gestation. The nuchal translucency is a collection of fluid beneath the fetal skin in the region of the neck and it is present in all fetuses in early pregnancy. The measurement of this fluid is normally less than 2.5mm. 95% of these scans will be negative. I didn’t know all of this, until I started searching google that evening. The panic set it. My numbers were way out of the normal range. What did this mean? No one had consulted me at the ultrasound and so I desperately called my family doctor in the morning. I was not able to reach him, and waited all day for his return call. He left a message on my phone. He assumed the radiologist had explained the increased risk associated with the nuchal scores that they had measured. The doctor’s office was closed early on Friday afternoons, and I was only able to track him down later that evening to explain what was going on. We would have to meet on the following Monday to discuss the results. My mother flew in from Vancouver to support us.

The radiographer’s report stated that my nuchal translucency score was abnormal, well over the 99th percentile, at 5.4mm and that there was additional evidence of possible cystic hygroma morphology, a risk of hydrops and thereby potentially poor fetal outcome. My recalculated risks for chromosomal abnormality was: 1:5 risk for Trisomy 21 (Down syndrome), 1:9 risk for Trisomy 18 (Edwards syndrome), and 1:122 risk for Trisomy 13 (Patau syndrome). Other than the nuchal score there were no other “soft” signs or markers for Trisomy 21 (Down syndrome) at this scan. Soft markers are observations such as small or absent nasal bone, smaller femur measurements, fluid on the kidneys amongst several other signs. Due to the severity of the nuchal score and their other clinical presentations they didn’t think it would likely be Down syndrome and they thought we should prepare ourselves for a more rare and fatal chromosomal abnormality. The outcome didn’t look good and all I could interpret from it was that we should prepare for the worst. My family doctor had no further insight nor comfort for me.

I was referred to Maternal Fetal Medicine at the University of Calgary. This is usually a team of specialized ultrasound technicians, periontologists, genetic counsellors, and obstetricians/ gynaecologists that can best manage higher risk pregnancies. It had been a week since the ultrasound and we found ourselves sitting at a table in clinical genetics. This is where I hoped to get answers, to hear how my risks were still low, perhaps there was technician error, or that this all would be resolved. I was in denial. The genetic counsellor explained the possible reasons for the large nuchal score:

  • A chromosomal abnormality or
  • A heart issue or
  • Delayed lymphatic development
  • Another unknown complication or that
  • Nothing was actually wrong.

She gave us our options for further testing. A procedure called the Chorionic Vilis Sampling (CVS) could be done right away, the doctor was in the building, and today was in fact the last day that they could perform this test on me (done before 14weeks gestation). Otherwise, we could wait until 18week gestation (5 weeks away) and we could do an Amniocentesis. Or we could do nothing and wait and hope. The past week had been unbearable, the unknown is far scarier. In some ways, I just wanted to ease my anxiety, so I accepted to do further testing right away without truly considering the ramifications of doing prenatal genetic testing. Within 10minutes I was in a surgical room, with local anaesthetic, while a long needle was used to take a sample of the chorionic villis that grows in the placenta. This sample of tissue contains blood from both mother and fetus and therefore the genetics of the fetus can be analysed. The technicians were kind and gentle. I was in shock, shivering and cold. They put warm towels on me and at the end they wished me good luck… Luck. It didn’t seem like luck had anything to do with it. A CVS or amniocentesis is an invasive procedure and does have a slight increased risk of miscarriage (1:100). So I went home to rest. Rest and weep.

They were able to perform a rapid test on the sample they obtained called FISH (an acronym for “fluorescence in situ hybridization”). Basically, it is a way to get faster preliminary results to a genetic test. They could get the results within 24 hours, with the complete results in 2 weeks. However, as it was a Thursday afternoon, the results would only be available on Monday, and Monday happened to be a public holiday, so we would have to wait until Tuesday. It was a long torturous weekend.

On Tuesday morning, my mom and I went to Starbucks after dropping my boys off at school. My phone rang. I went outside, standing by the drive-through in the cold, thinking whether I should sit or stand. This was it. On the line, the OB/GYN who performed my CVS didn’t start with any small talk.

“I’m sorry to tell you, the test was positive, your child has Down syndrome. I am sorry.” He paused.

 He then proceeded to ask me what I would like to do about it.
What I would like to do about it?! …What?!

I was in shock.

He may have continued to talk about the increased risk of miscarriage with Down syndrome, but that I should be happy it wasn’t one of the other fatal trisomy abnormalities. He may have talked about the expected spectrum of intellectual disability and the increased statistical risks of heart defects, gastro-intestinal complications, congenital cataracts, hearing loss, early onset Alzheimer’s …. but I couldn’t really hear him. I thanked him for calling me and that was it.

I was the one. The one in 625.

And all I could hear was “What would you like to do about it?”. 
 


I was in shock that I was asked that question. I wasn’t prepared for that. I couldn’t believe that here we were, sitting at the table in clinical genetics and then realize that this is where that decision was made for so many. A life or death decision was placed before us. Their role wasn’t to help us process the diagnosis right now. They wanted us to make a decision. This was a traumatic experience. In an odd way it felt like I’d already lost my baby. What I had expected was no longer. The image of a healthy baby with “ten fingers and ten toes”, the dream of the full life and potential was replaced with a diagnosis. My baby was replaced by a word. A diagnosis filled with uncertainty and statistics. A medical definition feels void of life. I started grieving.

Situations like these rock the foundations of who you are and what you believe in. I am fortunate to have a strong Faith and strong support system. My family came around us, carried us, kept my household functioning while Brandon and I began to process. We found rest and comfort in knowing who our God is. God reminded us of His goodness. That is all we needed to know. He is good. He would never leave us nor forsake us. This was enough for us.

In talking to other moms who’ve gone through similar diagnoses, it is evident that there are many similarities in the emotions that accompany processing a prenatal diagnosis. The time frame needed to process, however, can vary remarkably. I needed time. It took me about two months where I sought out psychological counselling and spent time feeling the various emotions. It really helped to identify and acknowledge that I was, in fact, grieving, and that I needed to process my sense of loss first, before even dealing with the diagnosis and decisions in our future. Giving myself permission to grieve helped to release me from the shame I felt in responding first out of fear rather than Faith. I was ashamed that I was grieving the losses rather than celebrating the life that still grew inside me. I tried reading blogs of other inspirational moms of children with Down syndrome, but at that time I still felt disconnected and alone because they were further along their journey than I. I couldn’t relate to the positive side yet. In hindsight I think having a prenatal diagnosis is difficult because you don’t have your baby in your arms. You can very easily feel disconnected from the pregnancy. This is a very confusing and scary emotion to have especially when you start to feel the bubbles and movements of your baby inside of you. But there was Hope.

God’s goodness and mercy started to breakthrough in our lives. We spend time just thinking about who He is, and what He has already done in our lives, and claimed His truth over our situation. He started to turn our mourning into joy. I began to reclaim the joy of this pregnancy and a new dream of my baby, a healthy baby with “ten fingers and ten toes” with a full and purposeful life began to grow…

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