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Genetic Testing: My Roller Coaster Ride

Tuesday morning started out especially exuberant. It was a gorgeous day and I was spending my last full day alone with my little girl during her big brother’s last day of preschool.

Tucked away in my purse was an order for a routine ultrasound and accompanying appointment card, given by my OB. It had been sitting there for a few weeks, and while I couldn’t wait to see our babe on the screen I was secretly stalling so that we might sneak a peek at the gender as well. Patience has eluded me my entire life. I’ve come to accept it.

As my daughter and I rode in the taxi over to the hospital, nothing was on my mind except for learning the sex of our third child. Check in was easy, aside from the pile of insurance paperwork and accompanying restless toddler. We were instructed to head down the hall to have a chat with the genetic counselor, as this was an elective screening, the Nuchal Translucency Test. I talked with her about my absence of worry over whether the baby has chromosomal abnormalities or not. This was my third child after all, and I’m only just barely 32 years old.

Zoe wasn’t able to come with me into the ultrasound room, so she sat with the nurses at the reception desk and-from what I remember — charmed them all with her wit and smiles.

“Baby is beautiful,” the ultrasound technician said in her thick Russian accent after a few moments glance at the screen. Tears seeped out of my eyes and ran down the sides of my face into puddles in my ears. How lucky are we? I thought. Three perfect babies. I’d never weeped before in an ultrasound, but this time was very different. I was alone watching my baby bouncing around in my womb, showing off two perfect legs, two perfect hands, twenty perfect digits and a teeny, darling little nose.

Eventually — after what seemed like the longest moment — she mentioned softly that she needed to bring in another technician to evaluate “something.” My euphoria dissipated immediately into a mushroom cloud of worry. The second technician confirmed the concerns of the first, telling me that a red flag had been raised given the thickness of space between the baby’s spine and exterior skin. “Three millimeters is considered to be abnormal, and the point in which we recommend further testing.” The thickness of the fold can be an indicator for chromosomal abnormalities, in most common cases Trisomy 21 –Down’s Syndrome. My tears quickly turned to waterfalls, and I couldn’t keep my face from distorting and my belly from heaving back the sobs. “How often do you see this in a person my age?” I asked her during a moment of clarity. “About two percent of the time,” she honestly answered. My world shattered. These are not good odds.

I was instructed to head back down to talk to the same genetic counselor we had just spoken to. I gathered Zoe and my things and made my way downstairs. I called my husband immediately, and as I pushed Zoe through the lobby of the hospital, I crumbled into a heap of choked words and muffled sobs as I told my husband that our baby might be “sick.” With the help of a Patient’s Advocate that happened upon us, we found the counselors office through the labyrinth of hospital doors and sterile, musty smells.

My husband rushed over to be with us and learn more about exactly what we were facing. “This procedure is not diagnostic,” the counselor explained. “This test basically gives us an idea based on the correlation between a thick nuchal fold and birth defects — how many cases we see like this, and how often they turn out to be ‘something.’” It’s the sickest game of odds that I’ve ever found myself playing. We quickly agreed to further testing, whether it be an amniocentesis or a CVS test. Again, patience is not one of my virtues, so for the sake of knowing I had to press on. We scheduled the CVS test for the following day.

I barely remember the following 24 hours. I sat down to watch my beloved Top Chef to numb my state of panic, yet all I heard out of the mouths of Padma and the chefs were the words “three millimeters,” “nuchal translucency,” “chromosomal abnormalities,” and “Down’s Syndrome.” I neither slept nor ate during these long hours, and could not for the life of me, or the benefit of my family, pull myself together. I felt as though everything I knew about myself was in question, the decision I would most likely have to make would determine my strength, and through it I would find out right away if I was a decent human being or not.

Am I strong enough to carry a child to term whose life is statistically not viable? Could we raise a child with Down’s Syndrome? How will this all affect our lives and ultimately the lives of our children?

I received the call to go in for the CVS test that afternoon, where they would remove part of my placenta to test living cells for chromosomal abnormalities. I went in confident and petrified at the same time, but mostly at peace knowing that we would have an answer to to the litany of questions that had plagued us for the past day. The test was painless if not a bit uncomfortable, and due to the timing of everything we would be fortunate to receive the news the following afternoon.

On my walk home from the procedure, I received a call from the genetic counselor. They had found another marker for Down’s Syndrome in the same ultrasound from the initial visit. The baby is apparently “missing” its nasal bone. “Your odds,” she confirmed, “for having a child with no birth defects or abnormalities are decreasing significantly.” The ground beneath me gave way.

I summoned every single ounce of strength I could muster simply to get through to the following day, vacillating between feeling confident no matter what the results may be, and letting the fear completely consume me. I called a babysitter to watch the kids for me the next day, as I knew I would be receiving a phone call that would change our lives forever, and I didn’t know whether or not I could handle it if I wasn’t alone.

I went to the local, skeevy yet completely, perfectly anonymous McDonald’s with an Us Weekly and my headphones and zoned out until I got the call at 5pm. He called at 4:40pm, and I flipped my dark sunglasses down from their perch on top of my head and, grasped my hands and answered.

“Hi Jessica”, the stern yet ever confident voice of my doctor spoke through my headphones.

“Your preliminary results are in from the CVS test. They were able to test 6 cells and found all 46 chromosomes in each one”.

“Your baby boy is ‘normal’ and healthy.”

I dropped the phone and buried my head in my arms. Absolutely unbelievable. I didn’t cry as I had expected myself to… my relief was far too overpowering. I spent the next hour sitting at McDonald’s calling my husband and relatives and sharing the miracle that I had just learned about our third child, our second son.

I felt as though I had lost the previous 48 hours of my life, but it was a price I was willing to pay and I am without a doubt, a different person as a result of this.

Will I elect to take this test the next time, hypothetically? I’m not so sure. The fact is that there are so, so many “false-positives” associated with this type of genetic testing, and it’s a very personal decision. I’m still sitting on a cloud of restrained elation, and looking forward to embracing the next 6 months with everything I’ve got — no matter what.

What doesn’t kill us only makes us stronger.

Don’t miss this mom’s story: “Our doctor said our baby would have Down’s Syndrome.”

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