Echo's Trisomy21 Diagnosis

It was just another day, going to my pregnancy appointments. I was 20 weeks pregnant and went and had my 20 week anatomy scan. Basically when you are 20 weeks pregnant they do an in depth ultrasound and check everything from the basic anatomy of her body like making sure she has all four limbs along with ten fingers and ten toes, down to the complicated anatomy of her heart, making sure everything is pumping and flowing like it is supposed to. I went to my routine doctor visit afterward to talk about how everything looked in the ultrasound. Everything looked, and measured "perfectly" is the word they used in their charting. Except she had a little tiny light spot on her heart. They called it an echogenic intracardiac focus or an EIF. It is a small white spot seen in the baby’s heart during an ultrasound examination. EIFs are found in about 3–5% of normal pregnancies and cause no health problems. One of my midwives reassured me that these "spots" are pretty common and she sees them often, as the other midwife told me she has only seen this a handful of times in her 20+ years of practice. I was worried sick. No one wants to hear that something could be wrong with their baby. Because of what was seen in the ultrasound, the midwives chose to do a panorama prenatal blood screen. Keep in mind, I opted out of getting the routine genetic screening done at 14 weeks because for some reason I just did not feel like it was necessary. A panorama blood screen is able to detect any sort of genetic anomaly such as, trisomy 21. I still remember the day like it was yesterday when we got the results. I was at work when my midwife called me to let me know they had received them. I remember answering the phone and I already knew what she was going to tell me. "Your baby is high risk for Trisomy 21 or in other words, there is a 98% chance your baby is Down Syndrome."

What? Are you sure you called the right person? My baby?? There is no way. This has to be some sort of a mistake. Did they get my blood mixed up with someone else?

I have never had so many different emotions rush through my body at one time. I walked outside at work and cried. I cried hard. I called my mom and told her and cried some more. I called my fiancé Dalton and shared the news with him and he also thought there was no way. Not our baby. I cried for four days. At 24 years old, that is just not something that ever even crosses your mind let alone, that is not something any parent is prepared to hear. Dalton mentioned the other night that "you just never think that it could be you".

It wasn't yet a confirmed diagnosis of Down Syndrome. Following our blood test, we had an extensive amount of doctors appointments. I had to transfer my whole OB care from my midwife to a doctor due to having a high risk pregnancy. We traveled north for the majority of our doctor appointments and saw many, many, different doctors and specialists. It was a whirlwind of emotions because one doctor would tell us she isn't Down Syndrome but the next would tell us that she is. The only way to get a definite diagnosis is to get what is called an amniocentesis. This is an invasive procedure where they stick a fairly large needle through your stomach through your uterine wall and take a sample of the amniotic fluid. The risk of miscarriage after having an amniocentesis after fifteen weeks gestation is estimated to be 1 in 100. To Dalton and I, the risk of the procedure did not outweigh the unknown. We knew we were going to keep her regardless if she was Down Syndrome or not, even though we had been asked countless times, "are you going to keep her?"

Let's get real and raw here for a minute. When we first found out, we had feelings and thoughts cross our mind that are hard to admit. We were angry. We were scared. We tried to talk ourselves into believing that the test was wrong. We talked about adoption. ( I seriously have cried and been so ashamed of myself for even thinking that now that she is here) We felt like our world had been turned upside down. Talking to other moms who have kids with special needs helped me realize that the thoughts and feelings we had were totally normal and we were most definitely not alone and they also had similar thoughts and feelings when receiving such life changing news. We are real people with real and raw emotions. It made me realize that, 1) having those thoughts and feelings does not make you a bad person, and 2) there is a grieving process you have to go through. When you get pregnant you have these expectations of having a perfectly healthy baby and when you are told that your baby isn't what you expected, it makes you sad and it hits you like a ton of bricks. It is so important to allow yourself to grieve the child you thought you were having. Just make sure you pick yourself up, dust yourself off and remember that God is in control.

Fast forward a couple of months down the road. There were many restless nights wondering what our future would hold. I went back and forth battling with my mind whether or not she was Down Syndrome. At one point, I even made an appointment to have an amniocentesis and I called and cancelled the day I was supposed to go. I remember praying and asking God why he chose me to be her mother. I felt so inadequate to raise a child with special needs. I spent a lot of time on my knees angry with God. I even remember praying one night and asking her to be "normal" and after I got up the thought crossed my mind, "What even is normal?"

The month before she was born, I got my answer. I knew she was Down Syndrome. From many hours on my knees talking to God and the people he had placed in my life to reassure me that it was going to be okay and Dalton and I were chosen for this. She chose us and God chose us. And we chose her. I remember when I first found out I was pregnant, it was a month after we had miscarried our first baby. I had stopped at a gas station to get a drink and I was waiting in line to check out when I noticed this mom, with her daughter, who is Down Syndrome. I had a very unexplainable sensation come over me and the thought crossed my mind, "what if I have a child with Down Syndrome." I didn't think anything of it until now. Dalton had mentioned just the other night that it had crossed his mind several times growing up that he would have a kid with special needs. These small and simple things and thoughts are reminders to pay attention. God really is in every single detail of our lives.

We were really open with our friends and family, and even strangers about the possibility that she has Down Syndrome. I found comfort in telling people what was going on instead of trying to comprehend it all on my own. Some people, even medical professionals had very negative things to say to us. I had one woman tell me, "well hopefully it's just a fluke." Another one said, "what a bummer." I have learned that there is a very negative stigma around the word Down Syndrome. The one thing that bothered me the absolute worst is when I would share the news with someone, and they would say, "oh my gosh I am so sorry." I understand that people do not know what to say, but take it from me from experience, if you ever come across someone in shoes similar to ours, please, please, remind them how lucky they are. Remind them that they were cut out for this. Remind them that not everyone on earth gets the opportunity to have a small piece of heaven in their home. It was those people who helped me and comforted me the most. It was those people who helped me realize my world was not turned upside down, but in fact it had just been turned right side up. It was those people who reminded me who I was and that God would be with me every step of the way.

.November 14, 2020. Echo's birthday. Every fear I had of the unknown was immediately washed away when they laid her on my chest.

The joy I feel in the depths of my soul when I look into her eyes is unlike any other. She is different, she is unique, and she is beautiful all in her own way. There will only ever be one Echo. She has changed our lives for the better and already made us better people in ways we never would have had the opportunity to grow if we didn't have her. The road ahead of us is long, but we are ready for this journey. I am so glad that she chose us, and that God trusts us with her. He designed her perfectly and she is the most beautiful girl I have ever seen. I can't wait to watch her leave her "Echo" in this world. We feel like the luckiest mom and dad ever.

My advice to parents who receive a prenatal or a postnatal special needs diagnosis is to remember you were chosen for this, and there is no better person for the job. I want to share this little poem that was shared by a friend. It is written by a woman named Natalie Chaffinch, her Instagram is linked here . The poem is called "Chosen".

Chosen

You were chosen for this journey. You were handpicked to be the caretaker of someone who will touch the hearts and lives of many.

Your eyes will be open to a beautiful new world. A world that is far more innocent that the one you are familiar with. This precious world is the closest thing to Heaven here on earth.

You will become an advocate, a therapist, and a teacher. You will celebrate big for things that used to look small. You may not feel prepared but know that you are fully equipped with everything your child will need.

This journey will be part of your legacy.

"You were born for such a time as this"

Esther 4:14