We had no idea what we were getting into. We had no idea we had just hit the lottery, secured the golden ticket and received an incredible gift we had never known we wanted. All we heard was there was something “wrong”.
Down Syndrome came into the picture at week 10. Much like other couples, we were asked what genetic tests (if any) we wanted to do. We went along with the California recommended NIPT test. This was a combo of my blood and the baby’s nuchal fold measurements to be taken at week 12. The week 12 appointment came quick. It was the day before my 31st birthday. I had never really paused to truly consider what the various outcomes could be. In my mind, I was more concerned with another miscarriage. We sat there watching the ultrasound tech take his nuchal measurements. She proclaimed early on that all measurements looked very normal, and then she paused and took one more measurement. I remember watching her and then watching the measurement (which was significantly higher than the previous) and then she went quiet. This was the first time I paused to consider a different outcome. We met with our OB right after the ultrasound and she confirmed my suspicions…we had an elevated chance, 1:54 , instead of the 1:800 chance (tied to my age) that our child had Down Syndrome. The odds were so small I originally brushed it off in the appointment. We chose to take the next California recommendation, another blood test that would give us the gender and be 97% accurate with the DS diagnosis. It was not until my husband and I got to the car that the possibility finally sunk in. All I could do was text my best friend and cry. I just wanted to hear that it would be ok. That our baby was going to be ok. Luckily my best friend new just what to say to talk me off the ledge and bring me away from the “what if’s”.
We tried our best to put this in the back of our minds for the next week and a half. We went about our lives with birthday parties and gatherings with friends and family. No one knew about our elephant in the room. Our news finally came on November 14, 2016. We were 14 weeks pregnant. I will never ever forget that phone call. I had just gotten off of a conference call at work and had the door to my office shut. I cannot remember the words our OB used on the call. All I knew was that our baby had DS and we could know the sex of the baby, if we would like. She did an incredible job of remaining impartial as to our next steps (continuing the pregnancy or not). All I could think was, “what the hell happened to the less than 2% chance of having DS?” I was crushed. Luckily my door was shut and I could have the conversation and process the information in private. I called my husband to deliver the news, knowing he was at work as well. We agreed to head home early to process the news together. I hung up the phone with him and my head started to swirl with a million questions. What is Down Syndrome, really? What does it mean for our baby? What kind of life could they have? Do I need to quit my job and find something less demanding so I can focus on our baby? What did I do wrong? Seriously though, what happened to that “less than 2% chance”? I called another good friend. She has an amazing child with special needs, an incredible job and still makes time for herself. I have always looked up to her and wondered how the heck she did it. She was the only person I knew who could possibly know what we were going through and could help me wrap my mind around our new path. True to her form, she immediately met up with me and talked me through how to process our news. There were no right or wrong answers. Once again, I just needed to hear that things would be ok.
I got home just before my husband and immediately broke out the laptop and did the worst thing possible. I started to Google Down Syndrome. First stop, “What causes Down Syndrome?” In the 45 minute drive it took to get home, I had convinced myself that I had done something wrong…ate the wrong food, used the wrong beauty product, lacking some vitamin in my diet. In my mind, it was my fault. We sat there searching the internet for any video clips, articles or pictures. We were craving a glimpse into our future and a reason why. We found little tidbits here and there, but nothing that really put our minds at ease. Mike had stopped by the OB office on his way home and picked up the envelope with the gender. He was supposed to look at the gender ahead of time to prepare for a reveal with his family. Mike would tell you this was one of the single most emotional moments for him. Finding out the gender helped both of us start to accept the DS diagnosis. It started to give shape to the future ahead and gave us more than just a diagnosis. It was a boy!!
That night we decided to tell my parents and my brother and his wife. They were difficult conversations. It was the blind leading the blind. All we knew was that we were moving forward with the pregnancy. The following weekend we met up with Mike’s family for a weekend away. This was supposed to be the grand gender reveal. Instead, I felt like we had brought a bomb to drop. We had spent the week leading up to the vacation researching DS. Each day we would discuss things we had found. We were better prepared for the conversation this time around and could frame the discussion a bit better.” While they could tell we were devastated, they still managed to show their unwavering support and excitement for our little boy. The conversation quickly changed to excitement for what he will be, not for what he wouldn’t.
A few weeks passed and I was still hung up on the fact the blood test only had 97% certainty, especially after having less than a 2% chance to begin with. I wasn’t in denial. I just needed the certainty. I struggle when in a place of limbo and uncertainty. Thanksgiving came and went and we had continued to keep our news to immediate family and a couple of close friends. We were not ready to have the conversations just yet. At week 17, we decided to do an amnio. This would give us the 99.9% certainty we needed. Around this time we also located our local Down Syndrome Association, DSAOC. We went to their Christmas gathering. I was so nervous. I felt like that night was going to give us the best possible chance at seeing what our future held. I had put so much pressure on myself. I had to love everything about that night. The night went well and I felt optimistic, yet still cautious, about our future.
It took us a solid month, to a month and a half to truly be ok with the DS diagnosis. It was so hard to talk about at first without getting emotional. I mourned the loss of what I had envisioned for our child. I wondered if we were being punished in some way for some bad karma…what for, I could not tell you. There were so many emotions running throughout those days and fear of not knowing what was in store for our child. Looking back, I know so many of these emotions are part of the normal grieving process and due to ignorance on the topic. I would have never made it through those weeks without an amazing husband and incredible friends. Even with all of this support, I still remember feeling lost and isolated. I felt like I could not get my arms around the situation. My mind just kept flashing to me treading water and just trying to keep my head above water.
At week 18 we flew to Maui to enjoy a pre-planned vacation that had turned into our baby-moon. On day one we received the call with the results of our amnio. Our baby had DS, more specifically, translocation. Once again, we found ourselves in the small percentage. Translocation DS occurs in about 3% of the DS community. It is also the only one that could be inherited. This opened us up to a whole new round of tests and questions. If we were carriers, would we ever have more children? How would we tell our family if we were carriers? We got home and did a blood test on ourselves and found out that we were not carriers. This had occurred purely by chance.
A cool thing happens after receiving a DS diagnosis. You get to see your baby all of the time! We had monthly ultrasounds to check growth and development. The big anatomy scan during week 20 was on December 23rd. This became another day we could never ever forget. During the ultrasound the doctor found a heart defect. We had read that these were common among babies with DS, so it was not a complete surprise. During this appointment, two days before Christmas, we were told he had a severe heart defect that could not be surgically repaired. He didn’t tell us specifics of what the defect was. We were told to start “considering our options” (aka abortion). Once again, we were devastated. I couldn’t stop crying. While DS made us nervous, we still wanted to move forward with every ounce of our being. How could there be no surgical options? We pushed a little harder and our specialist agreed to call in a cardiologist over the holidays for an emergency consultation. While the original DS diagnosis was hard, hearing your baby is not viable is a million times harder. For the next 4 days I could hardly function. I didn’t want to leave the house or celebrate Christmas. I felt intense guilt for any moment when I felt anything other than utter devastation. How could I celebrate the holidays when we might never meet our unborn child? How could this be possible? I could feel him moving all the time. Mike felt him move for the first time on Christmas morning. How could we be saying hello and goodbye at the same time?
On December 27th we met with our cardiologist. She took a detailed ultrasound of the heart and came to the conclusion that it would be fixable. We had never been so elated to hear about open heart surgery in our lives. I practically frolicked out of the office. We knew a tough road was ahead, but had heard so many families say how quick their little ones bounced back from the surgery. It almost sounded easy.
Once we knew the heart was fixable, it was time to publicly announce our pregnancy and details. Mike told his work and I told mine. They were hard conversations. It was hard to hear the words coming out. It made it all so real. Both of our works were incredibly supportive and we could not have been more grateful. These coworkers became our ongoing support through the rest of our pregnancy. I’m not sure if they will read this, but I hope they know how much their support kept us going. After numerous discussions, we decided social media would be the best route to announce the DS and heart diagnosis. It was too difficult (emotionally) to have this same conversation over and over again. It would be so hard to see their reactions of what to say next. We messaged a few close friends (all family was aware by this time) to alert them that we would be making an announcement and to please forgive us for not doing it in person. This was posted to Facebook when we were 22 weeks.
The support from family, friends and the community was overwhelming. We felt so incredibly lucky to be bringing a baby into this world. Over the rest of the pregnancy, we gained connections in the DS community. Every person we met talked about how amazing their lives were once it was touched with Down Syndrome (child, friend, family member, etc). As an outsider it still seemed difficult to imagine. How could something so amazing come from something that was so feared? If it was so amazing, why did so many people opt to abort after receiving the news? Still so many unanswered questions. 
On May 2, 2017 every answer I needed was given. We welcomed our sweet baby boy, Asher Cole. In an instant our lives changed in an unexplainable way. Suddenly the joy we had heard so much about was filling the room. The worries that had kept us up at night melted away. All we saw was our perfect baby boy. Once I met him, there was not one part of me that wished he did not have DS. He expanded my perception of what was perfect and where my priorities laid. His presence gave me a strength that I had never felt before and still does. We found ourselves in the exclusive club, amongst other parents of young children with DS. These are incredible families that become an extension of our immediate family. This community teaches you how to appreciate the differences and how to be a fierce advocate for your child. I don’t know where we would be without them.
For those of you pregnant and reading this hoping that you will someday feel the same. I get you. I was you. I hoped/craved so much to have the peace that others had with their diagnosis. What I later learned was to give myself grace and time. Give yourself the space to mourn the vision of the child you thought was coming. Don’t beat yourself up over the fact you are sad. It is so hard when society has trained you to fear DS. Find your local resources. They will bring you comfort and you can start to build your village. Most of all, celebrate. Even if you do not feel like it. Celebrate the moments when you have a good doctor’s appointment, times when you feel them move, having a baby shower, maternity photos, etc. And finally, have faith in the road ahead. All will be ok.
Asher is an incredible baby. We are often complimented on how adorable he is and how much he looks like my husband. He is truly my husband’s mini me. The first 3 months have been challenging due to his heart defect. Asher was diagnosed with a complete and balanced AVSD (AV Canal Defect). He went into full heart failure just short of one month old (very rare). He had his first open heart surgery just before he was 2 months old and his second just a few weeks later. He now has a mechanical valve and pacemaker (also extremely rare). Asher is one tough cookie. The doctors would joke that he is like a tank… life just keeps throwing him health complications and he just kept rolling. Thus his nickname, Tank. We had numerous nurses tell us how strong and resilient our DS kiddos are. I can tell you from firsthand experience, they did not lie. Tank has endured more in his 13 weeks of life than most will go through in their entire life. We just left the hospital less than a week ago and I am proud to report that he is doing amazingly well. He eats like a champ, can breast feed for some meals and is starting to hit developmental milestones early. I routinely laugh to myself about how worried I once was about DS.
Feel free to see our complete story from birth till now on Instagram: @Different_Kind_of_Perfect
Mike and Katie reside in Southern California with their son Asher and furbaby Finley. They have been happily married for almost 7 years and are 31/32 years old. Mike works full time as a Senior Corporate Accountant. Katie works full time as a Director of Sales and Marketing for a local hotel.
UPDATE: After writing this piece, Asher was admitted back into the hospital for complications as a result of a blood clot. He is currently undergoing treatment at CHLA, reach out to them on their instagram to offer your words of encouragement and prayers.
