A Normal Pregnancy
Being pregnant is such a happy time in your life. It is an indescribable feeling of love and joy, feeling your baby move. Love and dreams of the future of what my family would be, preoccupied my days. Dreams and expectations of reality. It may not be realistic but I’m a type A personality-the kind where there are expectations that are made and; when those expectations are not met, coping with the adjustment of the unmet expectation is a little more than daunting.
My previous three pregnancies have gone quite well, I experienced no new health issues. The only difference is that this pregnancy was unplanned and once the shock of that wore off, I was super excited to meet the beautiful face of what would be my fourth child.
This pregnancy had gone almost exactly the same as my previous, so I had no reason to think that this pregnancy would be any different. I went for a routine prenatal ultrasound on February 23 and thought nothing of it. The technician did not see anything troubling, just a sweet baby moving around and not cooperating with getting pictures done. I went home and thought nothing different. Life was great and predictable. Routine. There had been nothing that happened that gave me any clue as to there might have been something not typical about my baby.
Finding Out My Baby has Down Syndrome
A few days went by and I got a phone call from my family physician urging me to come immediately to the clinic. I was puzzled as to why and went in anyway with my two youngest children (the oldest was in school at the time). I arrived and was asked to take a seat in a large examination room. Being naïve, my first thought was, “This is not the usual examination room but I’ll take it. Gotta entertain these two kidlets somehow”. After a moment, my caring physician came in and had printed the results of the ultrasound. She sat down and told me that it was hard for her to tell me this, but that the results of the ultrasound showed a soft marker that would indicate that something may not be typical with the development of my child. That this marker might indicate that my child could have Down Syndrome.
Down Syndrome. This was a term that I had come in contact with before a long time ago. Actually almost 15 years ago, when I worked as a Behavioural Interventionist. So, I had some idea of what Down Syndrome was and having the medical training as a Nurse, I knew the biology of how this happened. But for me, the meaning of Down Syndrome was just that, a term. A what, a how, a manifestation. Nothing else.
Despite my not knowing what a quality of life of a person with Down Syndrome would present as, I knew that my decision would be to carry my baby to term.
(I came to this decision as a Nursing Student shadowing RNs in a NICU [Neonatal Intensive Care Unit]. During my learning opportunity, I met a beautiful preemie baby boy with a trisomy genetic disorder and I remember the Nurse telling me that I had to hold this baby because he was a rarity to see in a NICU. She quickly placed him in my arms and the moment I held him, [and this was before I had any children] I told myself that should I ever happen to have a child with a genetic disorder, I promise I would carry my child to term. [Talk about fate, and this was 10 years ago!])
My Doctor was supportive when I told her that I would like to find out more information and would like to seek a conclusive diagnosis as I am the type of person that needs to prepare. My doctor informed me she would refer me for an appointment to see a genetic counsellor at the Fetal Medicine Clinic.
Two days later, I was sitting at the Fetal Medicine Clinic with my husband, waiting to see our genetic counsellor. I remember being a bit nervous but was thoroughly prepared. I had looked up the soft markers that my baby had and I was not too concerned because they were not that alarming because typical pregnancies can have soft markers as well and that is not a definitive diagnosis for Down Syndrome. Also, my ultrasound interpretation at the bottom had the words “unlikely clinically significant” written on it. So needless to say, I was not too worried.
Markers on an ultrasound are areas of calcification on certain parts or organs of the fetus. These are graded from soft to hard, where soft means that those markers are less statistically correlated to a diagnosis of Down Syndrome compared to a hard marker would indicate a more statistical correlation of diagnosis of Down Syndrome. These are determined statistically from previous studies and outcomes. A definitive diagnosis cannot be made except by amniocentesis or birth. It is important to note that markers within themselves are not strong indicators of whether a fetus has Down Syndrome as these same markers show up in typical fetuses as well. So, basically get used to hearing a lot of statistics and no real answers as to what to expect with the health of your baby because not even the doctor really knows until baby is born. Ultrasounds can tell you an area of concern but not the degree nor severity of the concern. There is the Harmony Test which is statistically extremely accurate but again, not a concrete diagnosis. A lot of diagnosis is around how more statistically significant or likely or more correlated the particular test you have is. It is with this information, you are counselled on with a genetic counsellor so that you can make a more informed decision.
Raniga, S., Desai, P.D, & Parikh, H. (2006). Ultrasonographic soft markers of aneuploidy in second trimester: Are we lost? Medscape General Medicine. 8(1), 9. Retrieved from http://www.medscape.com/viewarticle/5 18149_1
Meeting the Genetic Counsellor
Our name was called and we went to meet with our genetic counsellor in a room where there was so much table and not enough chairs. The genetic counsellor closed the door and explained to us in a compassionate manner as to why we knew we were there. She went on to describe the ultrasound results and what tests were available that would give us the best statistical results of whether our baby had Down Syndrome or not. We were given the option of an amniocentesis if we would like, to which we declined because we did not want the additional risks of amniocentesis. We were also asked whether we would continue the pregnancy depending on the results of the tests we received. We were also asked this multiple of times in the last 2 days of finding out about our potential Down Syndrome Diagnosis. To make such a huge decision based on information given in 2 days, is not a long enough amount of time to absorb and think about what would be the best decision for you. It definitely is a stressful decision to make for anyone and being pressured to produce an answer almost immediately does not lend to making a well thought out, well-informed decision. Patients who find themselves in this situation really depend largely on the information and opinions from their health providers. Let me tell you that being a health care professional myself, did not make this decision any easier. Not even my experienced background could prepare me for making this decision, more so, with my equally stressed out husband.
Each time we were asked whether we would like to “continue the pregnancy”, “keep the baby”, “what our decision was”, etc., it felt like a jab in the stomach. As if the decision we made was the right one. Maybe there was something I was missing or maybe they are asking me this many times because they themselves did not see continuing the pregnancy as the best decision. Or maybe it was the best decision that I had made but they wanted to be sure. I can only imagine how others who do not have the background I do feel, and I felt pressured and even embarrassed sometimes with my decision. I felt like I had to shout on the rooftops that I was going to keep my baby.
I have read other stories from parents that have gone through similar situations that they have experienced this too, or often there is such a negative tone towards continuing a pregnancy with a diagnosis of Down Syndrome from health professionals, so I know I am not alone in feeling this way. Then you go to do your own research and find that the topic of Down Syndrome barely touches on what the quality or daily life is like, and you are bombarded with so much of the congenital comorbidities that go along with it. All this information is very scary and worrisome and you think the worst. You think that living with Down Syndrome must be a burden for the individual and those around them because majority of the medical information sounds so negative. Perhaps that is why the termination rate of a prenatal diagnosis of Down Syndrome pregnancy is very high. Most sources state anywhere between 80-96%.
Several months have gone by and I can say now that upon reflection, we were probably asked multiple times whether we were choosing to continue with our pregnancy because there is a determined amount of time that passes in which a late term abortion can be done. I can only hope that those that do choose that option are asked multiple times whether or not they would like to continue to terminate the pregnancy.
Whichever is the choice, it should be a well-informed decision that comes from a place of support with balanced views being presented irrespective and without bias. That means the health professionals’ approach to asking patients this should be the same for both choices and that the patients must have an open mind so that all information is considered.
It is good practice for all health care professionals to engage in a Values Clarification Exercise in which you reflect on your own values, morals, and ethics in a manner to ensure that you are not bias in your presentation of information because even the littlest amount, as simple as asking the question again, can give sway and change a decision. Not because of new information but because asking multiple times will create doubt in any situation. In short, health professionals, please just read the chart and instead of asking the question say, “I see that we are doing this procedure or based on your last visit you had indicated this and your decision is that. Do you have any questions or concerns? Is there any more information that you need? I know you have made a decision and for your comfort I want you to know should you want to revisit your decision for discussion, you may do so at any time. Any and all questions are welcome.” An approach as such would be doing your ethical due diligence.
We decided to get the Harmony Test because it was not as invasive and risky as the amniocentesis and yielded a statistically high accuracy rate (it tests fetal DNA circulating in the mother’s bloodstream via a simple intravenous blood draw from the mother). I must say that this test was more comfortable than what an amniocentesis would be but, there are multiple ways in which Down Syndrome can be diagnosed and it really requires a conversation with your physician and health providers to determine what would be your best approach.
I recall the feeling of negative anticipation and anxiety in the two days that followed after taking the Harmony Test. I decided to spend my two days researching Down Syndrome and trying to find evidence of positive aspects about it on the internet because the medical information I had was overwhelmingly depressing. My genetic counsellor Jasmine was really supportive in giving me information about the positive aspects of Down Syndrome and what life would be like for us.
After two days, I received the phone call I longed to hear. I remember clearly standing outside in the snow around the corner of the garage, hiding from the wind-chill, speaking on the phone with my genetic counsellor. Asking, confirming, and repeating, are you sure? What now? It wasn’t until I got off the phone with her and called my sister that the storm brewing inside me let out and I was incoherent, unable to stifle my cries to tell her what news I received. I was sad in the most terrible way. How could this happen to me? Why me? Why to my baby? What could I have done to change it? It’s my fault. The guilt of what could have been consumed me. After my loving sister was able to calm me down to the point that I could speak again, I realized that I was crying because every mother wants the very best for their child and the fact that this was not to be for my child was heartbreaking. It broke my heart that my baby would face difficulties in life, that most things that others take for granted would be a challenge for him. That his life would not be typical like my other children. It was in that moment that I realized that all my worries were selfish. I worried more about the differences in the world that my baby would face. Yes, they would be different from my other children, but is anyone’s life really free of differences and challenges? I am ashamed to even have thought that my biggest worry at that point was how others would perceive and receive me and my baby. Of all the worries and reasons to be sad, I was sad about this. Not that he may have medical challenges or it would take longer for him to learn the same things that typical children do. And to me, my reasons for being sad slowly went up in the sky like a balloon. My child would learn to coo, roll over, crawl, walk, and talk. He would do the same things other children do but it would be on a slower timeline and that was okay. He would face challenges but all children do, his would only be different and that is okay too. And in that everything that could go wrong in this pregnancy, didn’t. My baby is my baby no matter what and that I love him with all my heart and no diagnosis was going to change that. Because he is who he is and that is okay. My love for him will carry us through all the challenges life has and we will overcome life’s obstacles together. The same feelings I have for my other children.
It is important to note that although I had these feelings, I repeated the scenario and thoughts over and over again in my head. It took the rest of my pregnancy to come to terms with this because what was happening was that I was grieving the loss of what could have been a normal typical pregnancy and child and somehow I was guilty because I should have been able to change it. Even though at the same time I knew rationally, that there is nothing that I could have done to change the outcome because my child was a product of nature. Events I had no power over.
To Hope is to Cope: A Growing Love
One of the positive aspects of a special needs pregnancy is you get to see your baby every 1-2 weeks because of the necessary ultrasounds to assess for any impending changes of health status of your baby. They were not your routine ultrasound that most people get, these were hour long detailed ultrasounds. It was the first of those ultrasounds when I saw my baby yawn and saw his small button nose and chin, that I really felt confident in bonding and providing for him. From then on, I anxiously waited for the next ultrasound so I could see him again. See what is one of the four wee loves of my life.
For me, the grieving process stopped almost immediately after I gave birth because my mothering instincts took over. For a few months afterwards, I wondered what if things would have been different. What if my baby did not have Down Syndrome? I would then shake the thought away.
My baby with Down Syndrome is my most happiest baby I have ever had and he smiles way more than my other kids. His smile and laugh brings so much joy to me and I see glimpses of his personality everyday. He looks like his siblings and he has some of the same quarks as his siblings. When I try to imagine how he would be without Down Syndrome, I quickly shake the thought away. Now, that thought does not come up any more. He has brought so much untold joy I could not have possibly imagined. Not only me but all my family and I have seen positive changes in all of them. When I look at him, I do not see the Down Syndrome. I see my baby for whom I love very much and I would not have him any other way.
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