The Day I Learned My Daughter Had Down Syndrome

Updated: Aug 21, 2019



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.

"This test in not conclusive," the doctor said sympathetically on the other end of the phone. "It did come back positive but there's still a chance that your daughter doesn't have Trisomy 21.

Somehow, I knew she did and with those simple words "the test came back positive", I was thrust into the world of Down Syndrome.


Looking back, I'm almost ashamed of how upset I was, of how hard I fought back the tears, the grief, the anger, the fear when I realized that she had Down Syndrome. I dread the day that my daughter will read these words and somehow think she's not good enough because I felt shattered from her Down Syndrome diagnosis.

While I realize that my reaction was one from ignorance, it still doesn't diminish the shame I feel looking back. While the grief was understandable from a point of ignorance, it is unnecessary from a point of knowledge.

While people with Down Syndrome do have unique health challenges, naturopathic medicine is more than capable of rising to those challenges. As I completed my studies in naturopathic medicine, I learned how to look for the root cause of illness, disease, and disorders. I also learned how the human body is so interconnected that treating one part while ignoring the whole was futile.


I began to introduce naturopathic medicine into my daughter's life and her health increased exponentially. Her intelligence expanded, her physical activity increased, and she began more vivacious and full of life.


A comprehensive health approach that includes both naturopathic and conventional medicine will allow for any individual with Down Syndrome to thrive.

While social acceptance for Down Syndrome is growing and academic research is shedding more light on the condition with each passing month, there's still a huge lag in clinical application of research findings when it comes to Down Syndrome.

This has to change. People with Down Syndrome not only deserve to be fully included in society, they deserve the best care available to ensure they reach their full potential.


I'm so grateful that my daughter was able to have access to naturopathic medicine where she was able to get the individualized whole person treatment all individuals with Down Syndrome deserve.

If you've just received a Down Syndrome diagnosis for your child whether prenatal or at birth (or even a few weeks after birth), I want to give you a big congratulations for your perfect little baby.

I also want you to know that you are not alone.

You might feel scared, overjoyed, angry, frustrated, blessed, sad, or confused. All of these feelings are ok. You might worry about your child's future, his safety, her health, his ability to fit in. That's ok too. You're in for a life changing adventure and while things will get hard, they will definitely be worth it!


How did you find out your child had Down Syndrome? Did you get a prenatal or post natal diagnosis? Let me know in the comments!


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