Patient Blog Post Series: The Necessity of Genetic Counseling

The Necessity of Genetic Counseling

Editor’s note: The following article is a part of the National Society of Genetic Counselors’ new patient blog post series. Written by real patients, these stories share a glimpse into the sometimes complicated world of genetics and the role a genetic counselor can play in helping people navigate their healthcare. If you are an NSGC member and have a patient interested in sharing his or her genetic counseling experience, please email Jennie Szink at for more information.


Dara and Uriah Bacon

I grew up watching MacGyver.

So I know the value of creating a plan when you find yourself in an unexpected situation.

My original plan of action was this…we’d go in, meet with this genetic counselor once, take the blood test, she’d call us with negative test results and we’d never see her again.

Not that I expected her to be unpleasant.

I just expected her to be unnecessary.

Nothing could have been further from our truth.

Our genetic counselor is Jill Slamon, with the Vanderbilt Medical Center.  Our son’s diagnosis has made her a necessity in our lives.

We first met Jill when I was 32 weeks pregnant with our son, Uriah. Out of left field, a late ultrasound detected a soft mark for Down syndrome. After we were referred to her office, Jill educated us on the options for testing for the presence of an extra chromosome.

Two weeks later our results were back. Ever so gently, yet fully transparent, Jill shared the news that our unborn son had a 99.1 percent likelihood of having Down syndrome. Even though that phone conversation with Jill wasn’t easy, it was necessary in moving us forward. That conversation was the catalyst in creating a new plan of action for our family.

Fast-forward four weeks, and my husband Nick and I were walking into Vanderbilt Medical Center, ready to give birth to a down right awesome child.

Apart from immediate family, Jill was the only person allowed into our hospital room.  As luck would have it, she was sitting next to us when we got the news that Uriah had a rare type of Down Syndrome called translocation.

On the spot, Jill had to explain that specific diagnosis to us. In prior conversations, we had discussed the three types of Down syndrome. We needed to hear it again. Immediately.

In short, anyone with Down syndrome has an extra copy of chromosome 21. Ninety-five percent of all Down syndrome cases are Trisomy 21, meaning that third copy of chromosome 21 is present in all cells throughout the body. Mosaic Down syndrome happens when that third copy of chromosome 21 is present in some, not all, cells. Mosaic accounts for 1 percent of the cases.

Translocation accounts for the remaining 4 percent. In translocation, the additional chromosome 21 attaches itself to another chromosome. In Uriah’s case, he is a Translocation 14:21; his third copy of chromosome 21 is attached to chromosome 14.

Ninety-nine percent of Down syndrome cases are chance events. But about a third of translocation cases can be hereditary….

This is the part of our story when I explain that two people in my family have Down syndrome. An aunt and a second cousin once removed, both on my mother’s side of the family.

Jill was witnessing my grief yet again, as I jumped to the conclusion that I was the carrier of a translocation chromosome.

Blood test results two weeks later would confirm this. Though I don’t have Down syndrome, my second copy of chromosome 21 is attached to chromosome 14.

At that point, the thought of having more children wasn’t in the forefront of our minds, but we grieved nonetheless because of the implications this would have on future pregnancies.

Jill explained everything again, going deeper into information and percentages, as we wrapped our minds around it all.

Throughout the last four years, I’ve witnessed how completely vast and complicated genetics can be. Yet, given proper counseling, I continue to witness how applicable and understandable genetics can be as well.

Jill is someone we trust, can speak with openly, and ask the same questions over and over if we aren’t able to fully comprehend the information at first.

Above it all, we’ve learned that some of the most impactful things in life aren’t predictable, but necessary. And, we’ve experienced something else through the past four years – the joy of watching Uriah grow into a happy, active little boy.

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