Our first daughter was born with an unbalanced translocation. Extraordinarily rare. Not much medical data on children born with this chromosomal imbalance, because most of these children are miscarried or stillborn, never making it to a live birth. But, our daughter did. And, she lived a beautiful life for 4 1/2 years, before a seizure, that came out of nowhere and lasted 2 hours, took her from us.
Not long before what would have been our daughter’s 5th birthday, her first birthday since her death, we found out we were pregnant. Two days after her birthday, it was clear that I was miscarrying the baby. I took the miscarriage very well, I think so anyway! It was nothing like losing a 4 1/2 year old child. I understood that it was my body’s way of letting go of a pregnancy that wasn’t healthy. I appreciated my body’s biological knowledge and competency.
A little less than a year later, we were pregnant again. I was full of hope. This time, I was nervous, so darned nervous, but still full of hope. This time it FELT different, like this baby was here to stay. We conceived spontaneously, without IVF. I wanted the prenatal blood test to see if this baby would have an unbalanced translocation. I secretly wished that if he/she did, my body would miscarry on it’s own.
In the meantime, during all of our conversations over that year about having more children, we joked. We joked that we wouldn’t know what to do with a typical child. We wouldn’t know how to give a child medicine if we didn’t have a g-tube. How could we sleep at night without a pulse-ox monitor?!?! We joked that we would be way more qualified to have another, special child, like a child with Down syndrome, than we would be to have a typically developing child.
When the blood test came back, the genetic counselor said something to the effect of, “The blood test is negative for an unbalanced translocation, BUT…” and I finished her sentence, “the baby has Down syndrome”? “Yes”. The baby had Down syndrome. And, quite honestly, I have no idea what the lady said after that. I don’t know if she said she was sorry, or if she had anything encouraging to say. I did finally ask if we were having a boy or a girl, to which she happily replied, “it’s a girl”!
I do remember, quite vividly, the counselor being floored about the test results. She didn’t think I was THAT old that Down syndrome would be so likely, especially considering I already had a child with a genetic condition and a miscarriage…you’d think there was a fully healthy egg in my body somewhere and she was surprised this wasn’t it! So was I, sort of! Listen, she didn’t say it that way to me, but that’s pretty much what she meant. She recommended an ultrasound to just be more certain of the diagnosis, and then CVS or amniocentesis to be positive, before making any “decisions” about the pregnancy. She wasn’t negative, but she wasn’t exactly positive either. She was perky and upbeat when delivering the news, so there was that. And, she said the test was 99% accurate.
I was scared. Scared out of my mind. I got an appointment ASAP! My mom went with me. We saw a doctor who had horrible bedside manner, who we never saw again! He said that the blood test was pretty accurate, 90 something percent, and with the ultrasound marker of the thick nuchal fold, it put the likelihood of Down syndrome up to 99%. The only way to be truly certain would be invasive testing. He said that he would only recommend CVS or amnio IF I was considering terminating. If I wasn’t considering terminating, then I should think the facts of the blood test were enough of a reason to think my child would have Down syndrome.
And, I don’t remember all of his exact words, but I can say that he was matter of fact, and he gave me the feeling that he thought I should terminate the pregnancy. He said nothing positive. He didn’t explain how he would monitor a pregnancy like this going forward. He didn’t educate me on the risks and/or complications that might present during the pregnancy. He didn’t share any educational material or resources about being the parent of a child with Down syndrome. He said NOTHING that was positive. He didn’t even share one of those stories, which I hate, but it would have been something, “THEY can grow up just fine, some even work at grocery stores”.
I was heartbroken.
Here is the thing, you’ve probably seen it online in articles or video clips, the worst thing to say when a Mom/Dad gets a Down syndrome diagnosis is, “I’m sorry”. But, the thing I felt the most, as a Mom who just received a Down syndrome diagnosis was, sorry. I felt sorry, sad, disappointed, angry, scared. And, my doctor didn’t do anything to allay any of my fears or boost me up with some positive feelings.
I’m a fight AND flight kind of girl.
I called an complained about the doctor (fight). And, I left that practice (flight), well, right after I discussed the things in a bit more detail with the genetic counselor. I decided that I wanted to KNOW. For. Sure. Not because I wanted to terminate my pregnancy, but because I wanted to KNOW how to prepare. You see, when Delainie came into this world, we had no idea that she would have any genetic issue. We were pretty much reactive for most of her life! I wanted to be proactive this time. I wanted to know if my child had Down syndrome, and if she did, I wanted to research the best doctors, get the best monitoring and make the best plans. I couldn’t do that if I didn’t really, KNOW. At least, not in my opinion.
So, I was referred to Maternal Fetal Medicine at JHU. I loved the doctor, nurses and sonogram technicians there. They always made us feel like we were just having a baby, a baby that might have a few hiccups along her health journey, so we’d need to keep close watch to help her if that happened. I had the CVS testing done. For me, I felt the risks were minimal. From the research I did and the discussions with the doctor and genetics, the likelihood of miscarriage was low, and in most cases, probably likely due to the fetus’s lack of strength and ability to even make it to term to begin with. So, I prayed. I prayed.
We went on a little beach vacation after the CVS test. I tried not to think about it. I tried to lift my heart up to God, to my Delainie in heaven. A few days after we got home, I got the call from the doctor’s office. Good news, the baby didn’t have an unbalanced translocation, she in fact, has my balanced translocation and she has an extra 21st chromosome, Trisomy 21, Down syndrome. I told the genetics counselor that I understood, I had no questions, I made my next appointment and I called my husband. I couldn’t reach him! I drove to my parents house and they opened the door and I cried! I cried. I talked to my husband on the phone and I have no idea how he took it, because I was too busy feeling sorry for myself.
I was sorry. I was that thing you are not supposed to say to a parent who just received a Down syndrome diagnosis. And, I think it’s because of my history. All I could think of is, “I cannot lose another child. I cannot live in hospitals again. How will I fight this world for her, I am still exhausted from my previous fights”. My sorriness had nothing to do with her and everything to do with my fear of loss and post traumatic stress.
I am not going to lie, I considered ALL options. I listened to the option about terminating the pregnancy and the option for not terminating. For me, I can only make decisions once I know the choices, I need to know them in order to feel 110% confident in my decision, even if I know the decision that I will make before the options are presented.
I thought that if we could see she had no brain or heart or was destined to death, through the close prenatal monitoring, I would consider, not necessarily would I act, but I would consider termination. But, to terminate just based on her diagnosis? NO. NO. NO. My husband and I were in agreement. We lifted our faith up from the pits of hell and prayed that this was all part of The Plan and we were taking steps for the future of our beautiful family.
Still, my biggest fear and obstacle? The fear of having another child with medical complexity and losing her. I did not think I could lose another child whom I grew to love with every fiber of my being. It would probably kill me if it happened again. And, my faith in God at that time wasn’t very strong at all. I didn’t care about cognitive delays. Good grief, babies who seem “typical” at birth end up having learning disabilities, among a myriad of other challenges, medical and mental.
Here is the thing, short of doing IVF with genetic testing and picking out your perfect little zygote, and even then, you can’t know what the future holds for your child, medically or mentally. We get what we get. And, I believe, more than that, we get what we are supposed to get.
I used to say, if God asked me, “Kelly, do you want this healthy child or this child with a lot of obscure medical issues”? I would have said, “the healthy child, God, thank you”. But, I am so glad he never asked, because I didn’t get to choose and I am grateful, because I would have chosen wrong. I was gifted Delainie and lived 4 1/2 beautiful years with her, I will always thank God for that wisdom.
This time, I got to choose. I KNEW our Sweet P would have Down syndrome, and I chose her. We chose her. God in his infinite wisdom, once again, picked the perfect child for us.