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  • Writer's pictureRachelle Jervis

Day 182

Updated: Jun 26, 2019

I had a preconception genetic test for two reasons: to determine if I was a carrier of the disorders that hurt Constance and to rule out/in the possibility of having a child that was biologically mine in the future.

My doctor and insurance company signed off on the Counsyl Foresight Carrier Screen. They test for 176 known genetic disorders.

Counsyl sent an email notifying me the results were ready and genetic counselors were standing by to walk me through them.

I logged in and clicked on the results page. As it loaded, my eyes tried to make sense of the words, “NEGATIVE; No increased reproductive risk to highlight.” The site played a video of a genetic counselor in a very official-looking lab coat. She explained that I am not at increased risk of giving my child any known genetic diseases.

The page ended with the text, “We did not detect a mutation that would increase the chances of a genetic disease in your children. Generally, when there is no increased reproductive risk, no further action is recommended. Your doctor has been notified of your results. You are not expected to take any further steps, but if you would still like to speak to a healthcare professional, you may schedule an appointment with a member of our clinical team.”

I am sure that I will eventually feel relief and joy that I can have another child. Now, I am feeling angry that Constance got dealt such a terrible hand.

I clicked the link to get the detailed gene-by-gene report. Eleven single-spaced pages of gene-by-gene notes with statuses opened. I was looking for any sign that I had even a slightly higher-than-average probability of having caused Constance’s autism or epilepsy. Less than 5% of brain tumors have any genetic link. None of those known abnormalities were present in Constance’s genetic tests when she was tested.

There are several genetic disorders, such as Angelman syndrome, which have specific gene associations and currently fall under the autism spectrum disorder diagnosis. Constance didn’t have any of those. The gene most commonly tied to other forms of autism and language disorders is FOXP2. It is located at 7q31.1 and is responsible for providing a specific protein in the brain for bonding neurons. Asperger’s and apraxia fall into this gene mutation category. The test I took doesn’t look at FOXP2 hereditability. It can only say that there isn’t any visible tier-two deletion on my seventh chromosome; which means I don’t have autism. If you’re reading this and I was aloof or rude to you, that was just me; I apologize.

I convulsed with grief-filled tears when I learned that I have a 1 in 1 million chance of giving birth to a child with epilepsy. My baby girl. I strain against the gag of tears. Every breath is a wave of pain and a punch to the heart. One in a million. Talk about losing the lottery. How could the poor thing be so unlucky?


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