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Our Down Syndrome Diagnosis Story

"Our Down Syndrome Diagnosis Story"
Five years ago on Tuesday, October 24, 2017, I first heard the words that my unborn child was likely going to have Down syndrome. We had opted to do a non-invasive prenatal test which reveals your baby’s risk for genetic disorders as early as nine weeks. The baby's (placental) DNA is analyzed through a simple blood draw from the mother’s arm. I had that test done the week before during my normal OB doctor’s appointment, and the real reason we decided to do this test was so that we could find out the gender of our 3rd child extra early…we were both excited for the chance of perhaps having a girl after having 2 boys.
So on that Tuesday afternoon, I got a call from my doctor herself. I had been anxiously awaiting the news that the test results were in so we could do a gender reveal, but when my doctor was on the phone I knew something must be wrong. I was at work so I quickly walked away from my work area to a conference room. She told me that the results showed that our baby was high risk to have Trisomy 21. I felt so confused and didn’t want to believe it. I asked her what I should do next and she gave me my options – she could refer me to maternal fetal to see a specialist or I could terminate the pregnancy. She said was supportive of whatever we decided to do, and there for us when we were ready to talk. She was very sweet and comforting in that moment. We hung up and I was literally numb. I didn’t even find out the gender. A few hours later, I called the office back and they let me know that I was having another boy. I honestly felt super relieved with that news since it just felt a bit more familiar to me.
As you can imagine, my husband and I were in shock with this news. We were so hopeful that the results were somehow wrong. The rest of the week was super emotional and stressful for us as we tried to make sense of these results. We felt extreme anger, sadness, fear...and were mourning the loss of the normal baby we had been imagining would be joining our family.
We knew very little about Down syndrome and hadn’t even met anyone with Down syndrome. So as you might imagine, I had so many questions.
*Will this ruin our lives?
* Will my other kids be negatively affected?
*Will I have to quit my job?
*Will he be cute?
*Will he live with us forever?
Later that week on Friday, October 27, we had our first appointment with OSF Maternal Fetal. I had a notepage full of questions as we walked into that appointment and I titled the page “Day 4 of my Nightmare”. We learned a lot during that appointment in regard to further testing, what to expect with a higher risk pregnancy, termination statistics, and we even got some unsolicited advice from the doctor. She told us that she wouldn’t be able to do it, and if she had a child with Down Syndrome that they would be in an institution. That appointment was actually really pivotal for me personally though because we saw our baby boy in an ultrasound moving and kicking, and it gave me the strong reminder that I needed that this baby was still the baby that Omar and I had created and that I had been carrying for 10 weeks. He was my tiny son that was moving around inside me and relying on his momma for love, protection, and nourishment. That ultrasound was what I needed to move forward and know that we were going to be just fine regardless of the diagnosis. After that appointment, we headed to a bakery to get some special cookies and then bought some balloons so that we could announce the gender of our son.
On Monday, October 30 we drove up to Chicago to do a more invasive diagnostic test called CVS or Chorionic Villus Sampling so we could find out with 100% certainty if the baby would have Down Syndrome. This testing does come with some risks, but we needed to know. During that appointment, we first met with a genetic counselor and she let us know that the termination rate for their hospital was 98% for those patients that got a prenatal diagnosis of Down syndrome. That statistic has stuck with me forever…that is here in the US at Northwest Memorial Hospital in Chicago, IL.
The genetic counselor called me with the test results on November 8, which confirmed that our baby did have 3 copies of his 21st chromosome. I still have that voicemail on my phone. By the time we got these results, we had already started learning a lot about Down syndrome and had begun connecting to other families that had children with Down syndrome both locally and via social media.
Each year on this date, I go down memory lane remembering all the emotions and the many highs and lows that came with Cruz’s diagnosis and my pregnancy with Cruz. I went on to have a pretty normal pregnancy and Cruz was born full term on May 6, 2018. You all know how amazing Cruz is now and that he has changed our lives for the better. He also opened our hearts to special needs adoption, which led us to find our daughter, Livia. I hope that by sharing how awesome they both are and other facts about Down syndrome, that I can teach people that Down syndrome isn’t a scary death sentence or a nightmare. It isn’t all rainbows and sunshine but parenting any child can be tough and challenging. I think as they get older, we will have our share of hard times but there will be even more good times.
I also hope that the termination rates for those with a prenatal diagnosis with Down syndrome will go down and that medical professionals will continue to learn that the way the diagnosis is delivered is so important and should include accurate information along with opportunities to connect with other parents that have children with Down syndrome.
And finally to circle back to answer those questions that I asked myself when I initially got Cruz’s diagnosis.
*Will this ruin our lives? Absolutely not! Actually having Cruz – Down syndrome and all has made our lives so much better than we could have been imagined!
*Will my other kids be negatively affected? No! – although they are young, I can already see how having a brother with special needs is going to make them more protective over him but also more inclusive of others that may be different.
*Will I have to quit my job? I haven’t yet. Our employer Caterpillar and our management teams have provided us a lot of flexibility in order to make sure we attend all of the extras that come along with Cruz and now Livia. So thankful for that!!
*Will he be cute? Haha wasn’t that a funny question! I mean could he be any cuter!!
*Will he live with us forever? We don’t know the answer to this question yet, but what I do know is that I would 100% be okay with that. I would love it if he did, but we also know that we are going to give him as many opportunities that we can to let him learn and explore the world and live his life so if he wants to live on his own than we will also proudly support him in that decision also.