It's October and you know what that means? It's Down Syndrome Awareness Month!!! I couldn't be more excited because this means increased visibility for and education on one of the most common genetic abnormalities experienced by the human race, Trisomy 21.
As you may already know, I have a daughter with Down Syndrome and she is the one who started me on the journey to help people with Down Syndrome get as healthy as possible.
I thought that my first blog post of Down Syndrome Awareness Month would be a perfect time to tell our diagnosis story.
December 4th 2014 was the day my life changed forever.
I can remember lying in the doctor's office watching the screen as the sonographer moved the wand over my tiny pregnant belly. My then husband and I sat in hushed awe as we saw the tiny person on the grayscale screen. This baby was to be our second.
We had asked to know the sex of the child so we that we would be prepared. We wanted to start making a list of names and start buying the appropriate baby clothing. The sonographer seemed a little hurried and a bit disturbed but in my nausea mixed with bliss, I didn't notice.
Maybe that was because I was naive or maybe it was because I was 19 weeks pregnant and suffering from hyperemesis gravidarum, extreme nausea and vomiting due to pregnancy that a small percentage of women experience (but that's a story for another time). The sonographer completed the ultrasound and rushed from the room, forgetting to tell us the sex of our unborn child.
My then-husband made a remark about her rushing off so quickly and forgetting to tell us the sex. I assured him that she would tell us when she came back. Both my husband and I didn't even consider that there was something of concern to the ultrasound tech.
After a few minutes, she rushed back in and started scanning my abdomen again. My husband asked what was the sex. She mumbled "it's a girl. The doctor will be in to see you," and rushed out as quickly as she had come in once again. This time I think my husband was suspicious but I still didn't think that there was any issue.
We passed the time by discussing names. "Mora?" I asked. No he didn't like it. "How about Gabriella?" We had both liked the name Gabriel if the baby was a boy so maybe using the feminine version would be nice. He didn't like that one either.
"What if I shorten it then? What about Ella?" We both knew that we hit gold and Ella had her name.
By the time the doctor came in we had both forgot the strange behavior of the ultrasound technician. The maternal fetal medicine specialist introduced himself. I had been referred to an MFM because of my previous pregnancy where I had experienced not only HG (hyperemesis gravidarum) but pre-eclampsia and my son was diagnosed with intrauterine growth restriction (IUGR).
He then proceeded to perform the ultrasound himself, which I suddenly found strange. After a few minutes he put down the wand and sighed. "I'm sorry," he began gently. I was numb. Sorry about what? What could possibly be the problem?
"Your daughter has a heart condition called Tetralogy of-"
"Fallot?" I completed the sentence. "Yes," he responded a bit perplexed."How did you know that?" I was in shock and in my state of shock I automatically reverted to my clinical training. You see I was a student in naturopathic medical school at this time. I had just gone through my visceral anatomy class and was well aware of what Tetralogy of Fallot was and what it meant for my unborn daughter.
I explained to him how I knew and he then proceeded to tell me that she was small for her gestational age. I listened in shock not quite sure of what was to come next. The doctor then turned his attention to both my husband and me. "Unfortunately," he began. "It's my clinical opinion that your daughter, from her specific heart defect and her small size, has Down Syndrome."
I was speechless. My then husband shifted his weight forward. "How certain are you?" The doctor didn't mince words. "I've been doing this for over 20 years and from my experience I'm 99% certain but we won't know for sure without an amniocentesis. There is a 1 in 500 chance of a miscarriage though. I don't mean to rush you but you should consider making a decision because it's only legal to terminate in the state of Illinois up to 24 weeks."
After I refused the amniocentesis, the doctor offered a noninvasive cell free DNA blood test as an alternative. I gladly accepted. The test came back positive.