The Genetic Lowdown

The most terrifying mental triad of my life: Images of my baby dying, having a monstrous needle stuck into my stomach, and the horror of what the results will surely yield. My emotions are completely ungovernable. I just want to leave. I want to stand up, hastily pushing aside my paper blanket, fling open the door, and march my way down the hall, through the waiting room, and out the door, waving to Bobby Flay on my way out. Before my imagined liberation takes roots, a knock at the door reaffirms this confinement. Dr. Bates returns with a youthful woman who is donning a pencil skirt, button down silk shirt, and simple bracelet.

“Jason and Laura, this is Jaime. She’s a genetic counselor, and she will spend some time with you explaining the situation and what your options are.” Dr. Bates leaves again. Jaime grabs a chair, pulls up to the exam table as Jason returns to his chair.

 “Hi guys,” Jaime tries to sound casual. I don’t covet her position, having to talk about such melancholy topics with grieved couples. “I’d like to say first off that I’m very sorry for your news. I know this is very difficult. There is a lot of information being thrown at you, and I’m sure it is hard to understand all that is going on. It’s my job to try and clarify what is potentially going on, and what your options are from here.” She extracts a folder, containing some genetic-type charts. As much as I do not want to talk about this, listening to her structured talk helps me bring my mind to a calmer place. Pulling out a squiggly chart she states, “This isn’t something you both have to understand completely, but I just wanted to give you an idea of how chromosomes and genes function. That will help you understand what may be potentially going on with your baby.”

The information feels massive. I scramble to take it all in. “Each chromosome is numbered. Each number should contain a pair of chromosomes. Sometimes, instead of having two of the same number, there may be an extra chromosome, making it more of a trio. This is the case with Trisomy 13, 18, and 21 which is more commonly known as Down’s Syndrome. Sometimes a chromosome could be missing altogether, although the fetus isn’t likely to survive this situation.” Forcing my eyes from the floor, I refocus on Jaime. Her blue eyes desperately trying to soften, trying to comfort us. “And finally, the most rare cause of these kinds of abnormalities that your little one could have deals with the genes that make up the chromosomes. Each number chromosome could have a correct pair, but if a gene within the chromosome is screwed up, that can cause big problems.” My head is clouded by an information overload.

“What does this mean for us?” I say what we both are thinking.

 Jaime goes on, factually. “Think of the genes as building blocks that make up each chromosome string. If there is a corrupted gene in the string, we can certainly see these kinds of major abnormalities. This kind of corruption can be completely random, just a fluke. That’s how we would classify an abnormal number of chromosomes as well. The chance of us seeing these ‘flukes’ in a subsequent pregnancy of yours would be less than 1%. However, and this is the most rare scenario, if both of you are carrying a recessive corrupted gene, and you both passed it down to the fetus, this could also cause major abnormalities. This is extremely unlikely, since you would both have to be carriers of this mutated gene, and you would both have had to pass it on. The bad news with this scenario is that if you both are carriers, the likelihood of this happening each pregnancy would be 25%.” We are in biology class. We sit. We listen. We are in no way taking all this in.

Wow. Wow, wow, wow. This could have been our fault. For the thousandth time today, we are defeated. Jaime knows this. Jaime works hard to ground us. “If we do the amniocentesis, we can weigh your options of what to do next.”

What to do next. Immediate thoughts consume me, I have no consideration for what to do next. A slow inhale burns my nostrils. My lungs slowly inflate. Between pursed lips, the air lets go. We have to do something next. We have to make decisions after this test is over. I cannot wish and hope hard enough to make these decisions retreat.

Dr. Bates returns to give us the run-down of what to do next. If there ever was a time I thought I could not be more dumbfounded, this is it. And if there ever was a time I was wrong, this is it.